| 17,20-lyase deficiency, isolated | 2 | May 17, 2018 |
| 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | 20 | May 17, 2018 |
| 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial | 10 | May 17, 2018 |
| 2-aminoadipic 2-oxoadipic aciduria | 3 | Apr 21, 2021 |
| 21-HYDROXYLASE POLYMORPHISM | 3 | Apr 29, 2013 |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 10 | Apr 6, 2016 |
| 3-Methylglutaconic aciduria type 2 | 14 | Mar 21, 2022 |
| 3-Methylglutaconic aciduria type 3 | 4 | Jun 17, 2020 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 13 | Jun 20, 2016 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 10 | Jul 27, 2021 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 7 | Oct 4, 2016 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 10 | Oct 4, 2016 |
| 3-methylglutaconic aciduria type 1 | 10 | Nov 16, 2021 |
| 3-methylglutaconic aciduria type 5 | 2 | Aug 2, 2017 |
| 3-methylglutaconic aciduria type 8 | 4 | Jul 20, 2017 |
| 3-methylglutaconic aciduria type 9 | 6 | Jan 14, 2022 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 10 | Nov 17, 2021 |
| 3-methylglutaconic aciduria, type VIIB | 15 | Aug 11, 2022 |
| 3M syndrome 1 | 5 | Jun 30, 2021 |
| 3M syndrome 2 | 6 | Apr 8, 2019 |
| 3M syndrome 3 | 3 | Jul 6, 2021 |
| 3MC syndrome 1 | 5 | Aug 4, 2016 |
| 3MC syndrome 2 | 6 | Sep 13, 2013 |
| 3MC syndrome 3 | 3 | Apr 13, 2017 |
| 46,XX ovarian dysgenesis-short stature syndrome | 3 | Apr 11, 2022 |
| 46,XX sex reversal 2 | 3 | Aug 3, 2016 |
| 46,XX sex reversal 4 | 2 | Apr 23, 2021 |
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 5 | Aug 3, 2015 |
| 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | 5 | Oct 7, 2020 |
| 46,XY sex reversal 1 | 20 | May 23, 2019 |
| 46,XY sex reversal 10 | 3 | Aug 3, 2016 |
| 46,XY sex reversal 11 | 5 | Apr 27, 2020 |
| 46,XY sex reversal 2 | 1 | Aug 10, 2016 |
| 46,XY sex reversal 3 | 14 | Apr 23, 2021 |
| 46,XY sex reversal 5 | 2 | May 16, 2017 |
| 46,XY sex reversal 6 | 6 | Jul 17, 2017 |
| 46,XY sex reversal 7 | 2 | Oct 7, 2020 |
| 46,XY sex reversal 9 | 3 | Dec 12, 2017 |
| 46,XY true hermaphroditism, SRY-related | 1 | May 9, 2017 |
| 46,xx sex reversal 5 | 2 | Jun 2, 2020 |
| 5-Oxoprolinase deficiency | 3 | Dec 5, 2013 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 7 | Oct 21, 2016 |
| 8q24.3 microdeletion syndrome | 7 | Dec 21, 2018 |
| ABCA1 polymorphism | 1 | Oct 30, 2019 |
| ABCD syndrome | 1 | Sep 27, 2016 |
| ABO blood group system | 5 | Nov 18, 2014 |
| ABeta amyloidosis, Arctic type | 1 | Apr 2, 2013 |
| ABeta amyloidosis, Iowa type | 1 | Dec 11, 2019 |
| ABeta amyloidosis, Italian type | 1 | May 17, 2018 |
| ABeta amyloidosis, dutch type | 1 | Apr 2, 2013 |
| ABetaA21G amyloidosis | 1 | May 17, 2018 |
| ABri amyloidosis | 1 | Nov 11, 2014 |
| ACCES syndrome | 8 | Jul 14, 2022 |
| ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF | 1 | Aug 12, 2020 |
| ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 3 | 4 | Oct 22, 2024 |
| ACTH-independent adrenal Cushing syndrome, somatic | 1 | Dec 28, 2020 |
| ACTH-independent macronodular adrenal hyperplasia 1 | 3 | Sep 26, 2017 |
| ACTH-independent macronodular adrenal hyperplasia 2 | 8 | Jun 30, 2022 |
| ACTININ, ALPHA-3 POLYMORPHISM | 1 | May 14, 2021 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 8 | Feb 24, 2021 |
| ADRB2 POLYMORPHISM | 1 | May 3, 2019 |
| ADRENAL INSUFFICIENCY, NR5A1-RELATED | 2 | Feb 16, 2018 |
| ADULT i BLOOD GROUP PHENOTYPE | 2 | May 6, 2015 |
| ADULT syndrome | 6 | Jan 5, 2018 |
| ADan amyloidosis | 1 | Nov 11, 2014 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 5 | Dec 8, 2020 |
| AHUS, SUSCEPTIBILITY TO, 7 | 5 | Jul 24, 2015 |
| AICA-ribosiduria | 4 | Sep 24, 2020 |
| ALBUMIN ASOLA | 1 | Jul 18, 2019 |
| ALBUMIN B | 1 | Jun 6, 2012 |
| ALBUMIN BAZZANO | 1 | Sep 9, 2014 |
| ALBUMIN CASEBROOK | 1 | Jul 18, 2019 |
| ALBUMIN CASERTA | 1 | Jul 18, 2019 |
| ALBUMIN CASTEL DI SANGRO | 1 | Jul 18, 2019 |
| ALBUMIN COARI I | 1 | Jul 18, 2019 |
| ALBUMIN DUBLIN | 1 | Jul 18, 2019 |
| ALBUMIN FUKUOKA 1 | 1 | Jul 18, 2019 |
| ALBUMIN HAWKES BAY | 1 | Jul 18, 2019 |
| ALBUMIN HERBORN | 1 | Jul 18, 2019 |
| ALBUMIN HIROSHIMA 1 | 1 | Jul 18, 2019 |
| ALBUMIN HIROSHIMA 2 | 1 | Jul 18, 2019 |
| ALBUMIN IOWA CITY 1 | 1 | Jul 18, 2019 |
| ALBUMIN KOMAGOME 2 | 1 | Jul 18, 2019 |
| ALBUMIN LARINO | 1 | Jul 18, 2019 |
| ALBUMIN MALMO-10 | 1 | Jul 18, 2019 |
| ALBUMIN MALMO-47 | 1 | Jul 18, 2019 |
| ALBUMIN MALMO-5 | 1 | Jul 18, 2019 |
| ALBUMIN MALMO-95 | 1 | Jul 18, 2019 |
| ALBUMIN MEXICO 2 | 1 | Jul 18, 2019 |
| ALBUMIN NAGASAKI 2 | 1 | Jul 18, 2019 |
| ALBUMIN NAGASAKI 3 | 1 | Jul 18, 2019 |
| ALBUMIN NAGOYA | 1 | Jul 18, 2019 |
| ALBUMIN NASKAPI | 1 | Jun 6, 2012 |
| ALBUMIN ORTONOVO | 1 | Jul 18, 2019 |
| ALBUMIN OSAKA 1 | 1 | Jul 18, 2019 |
| ALBUMIN PARKLANDS | 1 | Jul 18, 2019 |
| ALBUMIN REDHILL | 1 | Jul 18, 2019 |
| ALBUMIN ROMA | 1 | Jul 18, 2019 |
| ALBUMIN RUGBY PARK | 1 | Jul 18, 2019 |
| ALBUMIN SONDRIA | 1 | Jul 18, 2019 |
| ALBUMIN TAGLIACOZZO | 1 | Jun 6, 2012 |
| ALBUMIN TOCHIGI | 1 | Jul 18, 2019 |
| ALBUMIN TORINO | 1 | Jul 18, 2019 |
| ALBUMIN TRADATE 2 | 1 | Jul 18, 2019 |
| ALBUMIN VANCOUVER | 1 | Jun 6, 2012 |
| ALBUMIN VANVES | 1 | Jul 18, 2019 |
| ALBUMIN VENEZIA | 1 | Jul 18, 2019 |
| ALBUMIN VIBO VALENTIA | 1 | Jul 18, 2019 |
| ALBUMIN YANOMAMA 2 | 1 | Jul 18, 2019 |
| ALDH18A1-related de Barsy syndrome | 9 | Mar 13, 2023 |
| ALDH9A1*2 POLYMORPHISM | 1 | Jun 18, 2012 |
| ALG1-congenital disorder of glycosylation | 7 | Apr 16, 2019 |
| ALG11-congenital disorder of glycosylation | 9 | Aug 14, 2020 |
| ALG12-congenital disorder of glycosylation | 9 | May 21, 2020 |
| ALG2-congenital disorder of glycosylation | 3 | Apr 6, 2022 |
| ALG3-congenital disorder of glycosylation | 5 | Mar 27, 2017 |
| ALG6-congenital disorder of glycosylation 1C | 6 | Jan 2, 2020 |
| ALG8 congenital disorder of glycosylation | 8 | Mar 2, 2022 |
| ALG9 congenital disorder of glycosylation | 4 | Oct 3, 2022 |
| ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM | 1 | Sep 14, 2012 |
| ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM | 1 | Sep 14, 2012 |
| ALPHA-2-MACROGLOBULIN POLYMORPHISM | 5 | Jun 23, 2021 |
| ALZHEIMER DISEASE 17, SUSCEPTIBILITY TO | 2 | Sep 25, 2024 |
| ALZHEIMER DISEASE, EARLY-ONSET, SUSCEPTIBILITY TO | 1 | Aug 6, 2019 |
| ALZHEIMER DISEASE, SUSCEPTIBILITY TO | 2 | Dec 16, 2020 |
| AMED syndrome, digenic | 4 | Feb 12, 2021 |
| AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM | 1 | Dec 21, 2012 |
| AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF | 1 | Aug 16, 2019 |
| AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA | 1 | Jan 6, 2021 |
| ANE syndrome | 1 | Oct 30, 2017 |
| ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb | 8 | Oct 3, 2024 |
| ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | 1 | Apr 25, 2018 |
| ANGIOTENSIN I-CONVERTING ENZYME INSERTION/DELETION POLYMORPHISM | 1 | Mar 18, 2022 |
| ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | 1 | Jan 26, 2017 |
| ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE | 1 | Jan 26, 2017 |
| ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | 1 | Jan 30, 2017 |
| ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE | 1 | Jan 26, 2017 |
| ANTICHYMOTRYPSIN BOCHUM 1 | 1 | Jul 23, 2010 |
| ANTICHYMOTRYPSIN BONN 1 | 1 | Jul 23, 2010 |
| ANTICHYMOTRYPSIN ISEHARA 1 | 1 | Jul 23, 2010 |
| ANTICHYMOTRYPSIN ISEHARA 2 | 1 | Jul 23, 2010 |
| ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM | 1 | Jul 23, 2010 |
| APHASIA, PRIMARY PROGRESSIVE, SUSCEPTIBILITY TO | 1 | Aug 6, 2019 |
| APOB POLYMORPHISM IN SIGNAL PEPTIDE | 1 | Apr 12, 2013 |
| APOE2 VARIANT | 1 | Jun 27, 2022 |
| APOE2-DUNEDIN | 1 | Jan 10, 2018 |
| APOE3 ISOFORM | 1 | Jan 10, 2018 |
| APOE3 VARIANT | 1 | Nov 22, 2019 |
| APOE3(-)-FREIBURG | 1 | Aug 5, 2016 |
| APOE4 VARIANT | 1 | Jun 27, 2022 |
| APOE4(+) | 1 | Nov 22, 2019 |
| APOE4(-)-FREIBURG | 1 | Feb 15, 2017 |
| APOE5 VARIANT | 2 | Nov 22, 2019 |
| APOH POLYMORPHISM | 1 | Jun 24, 2011 |
| APOLIPOPROTEIN A-I (BALTIMORE) | 1 | Aug 19, 2019 |
| APOLIPOPROTEIN A-I (GIESSEN) | 1 | Aug 19, 2019 |
| APOLIPOPROTEIN A-I (MARBURG) | 1 | Aug 19, 2019 |
| APOLIPOPROTEIN A-I (MILANO) | 1 | May 28, 2021 |
| APOLIPOPROTEIN A-I (MUNSTER3B) | 1 | Sep 11, 2017 |
| APOLIPOPROTEIN A-I (MUNSTER3C) | 1 | Sep 11, 2017 |
| APOLIPOPROTEIN A-I (MUNSTER4) | 1 | Aug 19, 2019 |
| APOLIPOPROTEIN A-I (NORWAY) | 1 | Aug 19, 2019 |
| APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA) | 1 | Oct 14, 2009 |
| APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 | 1 | Jul 16, 2012 |
| APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 | 1 | Jul 16, 2012 |
| APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3 | 1 | Jul 16, 2012 |
| APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*5 | 1 | Jul 16, 2012 |
| APOLIPOPROTEIN C-II (AFRICAN) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II (AUCKLAND) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II (BARI) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II (HAMBURG) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II (PADOVA) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II (PARIS) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II (SAN FRANCISCO) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II (ST. MICHAEL) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II (TORONTO) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II (WAKAYAMA) | 1 | Jul 8, 2008 |
| APOLIPOPROTEIN C-II VARIANTS, MOLECULAR DEFECT UNKNOWN | 1 | Aug 12, 2020 |
| APOLIPOPROTEIN(a), TYPE C POLYMORPHISM | 1 | Jun 19, 2019 |
| APOLIPOPROTEIN(a), TYPE D POLYMORPHISM | 1 | Jun 19, 2019 |
| APOLIPOPROTEINS A-I AND C-III, COMBINED DEFICIENCY OF | 1 | Aug 19, 2019 |
| APP POLYMORPHISM | 1 | Apr 2, 2013 |
| APRT deficiency, Japanese type | 1 | Sep 20, 2012 |
| ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA | 1 | Jun 8, 2016 |
| ARYLSULFATASE A POLYMORPHISM | 1 | Nov 7, 2018 |
| AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b) | 1 | Feb 5, 2018 |
| AUTOIMMUNE DISEASE WITH SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS | 1 | Nov 12, 2024 |
| AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY | 3 | Jun 17, 2021 |
| Aarskog syndrome | 12 | Aug 31, 2021 |
| Abacavir hypersensitivity | 1 | Apr 25, 2017 |
| Abdominal obesity-metabolic syndrome 3 | 2 | Jun 6, 2017 |
| Abdominal obesity-metabolic syndrome 4 | 3 | Oct 11, 2019 |
| Abetalipoproteinaemia | 9 | Mar 6, 2019 |
| Ablepharon macrostomia syndrome | 1 | Nov 15, 2019 |
| Abnormal anterior chamber morphology | 1 | Sep 19, 2019 |
| Abnormal hemoglobin | 1 | Mar 28, 2013 |
| Abortive cerebellar ataxia | 5 | Jan 2, 2018 |
| Abruzzo-Erickson syndrome | 1 | Mar 26, 2020 |
| Absence seizure | 2 | Apr 30, 2018 |
| Acampomelic campomelic dysplasia | 3 | Jul 16, 2019 |
| Acampomelic campomelic dysplasia with autosomal sex reversal | 1 | Sep 2, 2014 |
| Acanthocytosis due to band 3 HT | 1 | Nov 13, 2017 |
| Acatalasemia, japanese type | 2 | Mar 14, 2013 |
| Acatalasia | 1 | Mar 14, 2013 |
| Accelerated tumor formation, susceptibility to | 1 | Nov 26, 2019 |
| Acetyl-CoA: carboxylase deficiency | 3 | Jan 31, 2024 |
| Achalasia-alacrima syndrome | 2 | Mar 10, 2021 |
| Acheiropodia | 1 | Sep 11, 2014 |
| Achondrogenesis type II | 4 | Mar 2, 2017 |
| Achondrogenesis, type IA | 6 | Apr 12, 2021 |
| Achondrogenesis, type IB | 5 | Apr 6, 2015 |
| Achondroplasia | 5 | Oct 19, 2017 |
| Achromatopsia 2 | 11 | Apr 19, 2022 |
| Achromatopsia 3 | 5 | Sep 8, 2011 |
| Achromatopsia 4 | 4 | Oct 2, 2017 |
| Achromatopsia 5 | 14 | Mar 15, 2019 |
| Achromatopsia 6 | 1 | Dec 28, 2020 |
| Achromatopsia 7 | 6 | Aug 13, 2015 |
| Acid alpha-glucosidase, allele 2 | 1 | Mar 16, 2011 |
| Acid alpha-glucosidase, allele 4 | 1 | Oct 18, 2016 |
| Acne inversa, familial, 1 | 6 | Jul 14, 2021 |
| Acne inversa, familial, 2 | 7 | Dec 1, 2017 |
| Acne inversa, familial, 3 | 1 | Jun 28, 2022 |
| Acquired hemoglobin H disease | 2 | Mar 5, 2021 |
| Acquired immunodeficiency syndrome, delayed progression to | 1 | Mar 28, 2013 |
| Acquired immunodeficiency syndrome, rapid progression to | 1 | Sep 15, 2016 |
| Acquired immunodeficiency syndrome, slow progression to | 1 | Feb 7, 2011 |
| Acquired partial lipodystrophy | 4 | Feb 27, 2020 |
| Acquired polycythemia vera | 1 | Jan 12, 2022 |
| Acquired susceptibility to long QT syndrome 1 | 1 | Feb 3, 2017 |
| Acral peeling skin syndrome | 6 | Sep 27, 2016 |
| Acrocallosal syndrome | 5 | Dec 15, 2017 |
| Acrocapitofemoral dysplasia | 3 | Nov 30, 2022 |
| Acrocephalosyndactyly type I | 4 | Aug 10, 2018 |
| Acrodermatitis continua suppurativa of Hallopeau | 8 | Dec 16, 2020 |
| Acrodysostosis 1 with or without hormone resistance | 4 | Aug 4, 2016 |
| Acrodysostosis 2 with or without hormone resistance | 10 | Dec 28, 2020 |
| Acroerythrokeratoderma | 9 | Feb 26, 2021 |
| Acrofacial dysostosis Cincinnati type | 4 | Jan 5, 2024 |
| Acrokeratosis verruciformis of Hopf | 2 | Nov 15, 2012 |
| Acromelic frontonasal dysostosis | 1 | Feb 8, 2018 |
| Acromesomelic dysplasia 1, Maroteaux type | 5 | Nov 18, 2021 |
| Acromesomelic dysplasia 2B | 4 | Apr 3, 2020 |
| Acromesomelic dysplasia 2C, Hunter-Thompson type | 1 | Apr 3, 2020 |
| Acromesomelic dysplasia 3 | 4 | Apr 6, 2022 |
| Acromesomelic dysplasia 4 | 2 | Jan 18, 2022 |
| Acromicric dysplasia | 5 | Jan 4, 2018 |
| Acroosteolysis-keloid-like lesions-premature aging syndrome | 2 | Feb 9, 2024 |
| Actin accumulation myopathy | 8 | Apr 2, 2021 |
| Action myoclonus-renal failure syndrome | 7 | Jun 21, 2018 |
| Actn3 deficiency | 1 | May 14, 2021 |
| Acute febrile neutrophilic dermatosis | 2 | Mar 3, 2021 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 6 | Aug 23, 2017 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 9 | Oct 11, 2019 |
| Acute intermittent porphyria | 40 | Oct 31, 2020 |
| Acute lymphoid leukemia | 6 | Nov 2, 2021 |
| Acute megakaryoblastic leukemia | 1 | Nov 19, 2012 |
| Acute myeloid leukemia | 26 | Jan 12, 2022 |
| Acyl-CoA dehydrogenase 9 deficiency | 8 | Dec 13, 2018 |
| Acyl-CoA oxidase deficiency | 8 | Aug 31, 2020 |
| Adams-Oliver syndrome 1 | 2 | Sep 20, 2013 |
| Adams-Oliver syndrome 2 | 7 | Nov 26, 2018 |
| Adams-Oliver syndrome 3 | 2 | Sep 10, 2012 |
| Adams-Oliver syndrome 4 | 5 | Dec 17, 2020 |
| Adams-Oliver syndrome 5 | 8 | Nov 26, 2018 |
| Adams-Oliver syndrome 6 | 6 | Feb 13, 2018 |
| Addison disease, susceptibility to | 1 | Oct 27, 2011 |
| Adenine phosphoribosyltransferase deficiency | 8 | Aug 3, 2015 |
| Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic | 1 | Jan 23, 2018 |
| Adenoma, cortisol-producing | 1 | Apr 29, 2013 |
| Adenomatous polyposis coli with congenital cholesteatoma | 1 | Apr 4, 2013 |
| Adenosine deaminase 2 allozyme | 1 | Nov 15, 2012 |
| Adenosine kinase deficiency | 3 | Oct 10, 2016 |
| Adenylosuccinate lyase deficiency | 8 | Dec 11, 2017 |
| Adermatoglyphia | 4 | Mar 14, 2019 |
| Adiponectin deficiency | 2 | May 10, 2023 |
| Adrenocortical adenoma | 1 | Nov 28, 2012 |
| Adrenocortical carcinoma, pediatric | 2 | Nov 6, 2018 |
| Adrenocortical tumor, somatic | 3 | Aug 4, 2016 |
| Adrenoleukodystrophy | 24 | Feb 21, 2017 |
| Adult hypophosphatasia | 4 | Apr 14, 2015 |
| Adult polyglucosan body neuropathy | 5 | Apr 26, 2017 |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Mar 18, 2016 |
| Adult-onset proximal spinal muscular atrophy, autosomal dominant | 1 | Jul 26, 2013 |
| Advanced sleep phase syndrome 1 | 1 | Aug 21, 2019 |
| Advanced sleep phase syndrome 2 | 2 | Jun 9, 2016 |
| Advanced sleep phase syndrome 3 | 1 | Aug 21, 2019 |
| Advanced sleep phase syndrome, familial, 4 | 1 | Aug 23, 2022 |
| Aerodigestive tract cancer, squamous cell, alcohol-related, protection against | 1 | Jun 4, 2018 |
| Agammaglobulinemia 10, autosomal dominant | 5 | Jan 25, 2022 |
| Agammaglobulinemia 2, autosomal recessive | 3 | Jun 13, 2016 |
| Agammaglobulinemia 3, autosomal recessive | 2 | Nov 2, 2010 |
| Agammaglobulinemia 4, autosomal recessive | 1 | May 1, 2013 |
| Agammaglobulinemia 5, autosomal dominant | 1 | Jun 4, 2020 |
| Agammaglobulinemia 6, autosomal recessive | 2 | Jan 10, 2017 |
| Agammaglobulinemia 7, autosomal recessive | 1 | Jul 1, 2019 |
| Agammaglobulinemia 8, autosomal dominant | 1 | Apr 12, 2022 |
| Agammaglobulinemia 8b, autosomal recessive | 2 | Apr 13, 2022 |
| Agammaglobulinemia 9, autosomal recessive | 5 | Jan 18, 2022 |
| Age related macular degeneration 1 | 1 | Nov 13, 2015 |
| Age related macular degeneration 11 | 1 | May 5, 2016 |
| Age related macular degeneration 12 | 1 | Sep 5, 2014 |
| Age related macular degeneration 14 | 4 | Aug 12, 2016 |
| Age related macular degeneration 15 | 1 | Jan 7, 2014 |
| Age related macular degeneration 2 | 1 | Sep 11, 2017 |
| Age related macular degeneration 4 | 6 | Jun 11, 2019 |
| Age related macular degeneration 5 | 1 | Dec 8, 2016 |
| Age related macular degeneration 6 | 1 | Nov 1, 2016 |
| Age related macular degeneration 7 | 1 | Feb 18, 2015 |
| Age related macular degeneration 8 | 2 | Oct 22, 2013 |
| Age-related macular degeneration | 1 | Jun 29, 2017 |
| Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 7 | Jun 26, 2020 |
| Agenesis of the corpus callosum with peripheral neuropathy | 10 | Sep 15, 2016 |
| Agnathia-otocephaly complex | 4 | Nov 21, 2018 |
| Aicardi-Goutieres syndrome 1 | 5 | Jan 22, 2021 |
| Aicardi-Goutieres syndrome 1, autosomal dominant | 2 | Oct 18, 2017 |
| Aicardi-Goutieres syndrome 2 | 2 | Oct 5, 2016 |
| Aicardi-Goutieres syndrome 3 | 2 | Oct 18, 2017 |
| Aicardi-Goutieres syndrome 4 | 6 | Sep 14, 2018 |
| Aicardi-Goutieres syndrome 5 | 11 | Sep 6, 2018 |
| Aicardi-Goutieres syndrome 6 | 10 | Oct 14, 2019 |
| Aicardi-Goutieres syndrome 7 | 10 | May 31, 2023 |
| Aicardi-Goutieres syndrome 8 | 1 | Aug 16, 2021 |
| Aicardi-Goutieres syndrome 9 | 6 | Aug 16, 2021 |
| Al Kaissi syndrome | 4 | Oct 2, 2017 |
| Al-Gazali syndrome | 3 | Apr 27, 2020 |
| Al-Raqad syndrome | 4 | Jul 29, 2019 |
| Alacrima, achalasia, and intellectual disability syndrome | 6 | Feb 18, 2022 |
| Alagille syndrome due to a JAG1 point mutation | 13 | Mar 2, 2022 |
| Alagille syndrome due to a NOTCH2 point mutation | 2 | Jul 27, 2012 |
| Aland island eye disease | 1 | Nov 16, 2010 |
| Alazami-Yuan syndrome | 2 | Sep 23, 2016 |
| Alcohol dependence | 5 | Feb 12, 2021 |
| Alcohol dependence, susceptibility to | 1 | Dec 11, 2019 |
| Alcohol sensitivity, acute | 1 | Feb 12, 2021 |
| Alcoholism, susceptibility to | 3 | Aug 12, 2016 |
| Aldosterone to renin ratio, increased | 2 | Apr 29, 2009 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 2 | Oct 14, 2013 |
| Aldosterone-producing adrenal adenoma, somatic | 2 | Apr 25, 2017 |
| Alexander disease | 13 | Apr 16, 2019 |
| Alfadhel syndrome | 2 | Dec 15, 2023 |
| Alkaline ceramidase 3 deficiency | 1 | Nov 10, 2017 |
| Alkaptonuria | 10 | May 8, 2015 |
| Alkuraya-Kucinskas syndrome | 6 | Jan 11, 2018 |
| Allan-Herndon-Dudley syndrome | 11 | Jun 15, 2017 |
| Allergic rhinitis, susceptibility to | 1 | Jun 26, 2020 |
| Alloalbuminemia | 2 | Jul 18, 2019 |
| Alopecia universalis congenita | 4 | Sep 11, 2019 |
| Alopecia-intellectual disability syndrome 1 | 1 | Feb 15, 2022 |
| Alopecia-intellectual disability syndrome 4 | 7 | Feb 10, 2022 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 15 | Mar 5, 2021 |
| Alpha trait thalassemia | 1 | Oct 13, 2016 |
| Alpha-1-antitrypsin deficiency | 1 | Jul 15, 2016 |
| Alpha-2-plasmin inhibitor deficiency | 3 | Jul 5, 2012 |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 | Feb 3, 2009 |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 3 | Sep 18, 2013 |
| Alpha-N-acetylgalactosaminidase deficiency type 3 | 1 | Feb 3, 2009 |
| Alpha-fetoprotein deficiency | 2 | Aug 5, 2016 |
| Alpha-fetoprotein, hereditary persistence of | 2 | Jan 3, 2018 |
| Alpha-methylacyl-CoA racemase deficiency | 1 | Jan 24, 2017 |
| Alpha-thalassemia, Dutch type | 5 | Oct 13, 2016 |
| Alpha-thalassemia, Hmong type | 1 | Mar 28, 2013 |
| Alpha-thalassemia, zf type | 1 | Mar 28, 2013 |
| Alpha-thalassemia-2, nondeletional | 1 | Mar 28, 2013 |
| Alstrom syndrome | 8 | Nov 1, 2019 |
| Alternating hemiplegia of childhood 1 | 2 | Nov 10, 2021 |
| Alternating hemiplegia of childhood 2 | 9 | Apr 7, 2017 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 6 | Jun 5, 2020 |
| Alzahrani-Kuwahara syndrome | 3 | Apr 19, 2021 |
| Alzheimer disease | 2 | Feb 22, 2022 |
| Alzheimer disease 18 | 2 | Feb 28, 2017 |
| Alzheimer disease 19 | 1 | Oct 12, 2016 |
| Alzheimer disease 2 | 1 | Jun 27, 2022 |
| Alzheimer disease 3 | 27 | Jun 28, 2022 |
| Alzheimer disease 3, protection against, due to APOE3-Christchurch | 1 | Nov 25, 2019 |
| Alzheimer disease 4 | 9 | Feb 1, 2017 |
| Alzheimer disease 9 | 2 | Apr 25, 2016 |
| Alzheimer disease familial 3, with spastic paraparesis | 1 | May 12, 2017 |
| Alzheimer disease type 1 | 13 | Feb 14, 2019 |
| Alzheimer disease, early-onset, with cerebral amyloid angiopathy | 1 | Apr 2, 2013 |
| Alzheimer disease, familial, 3, with spastic paraparesis and apraxia | 2 | May 12, 2017 |
| Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | 2 | May 12, 2017 |
| Alzheimer disease, familial, 3, with unusual plaques | 2 | May 12, 2017 |
| Alzheimer disease, familial, with spastic paraparesis and unusual plaques | 3 | Jun 28, 2022 |
| Alzheimer disease, late-onset, susceptibility to | 2 | Mar 12, 2015 |
| Alzheimer disease, protection against | 2 | Sep 6, 2016 |
| Amegakaryocytic thrombocytopenia, congenital, 2 | 5 | Aug 28, 2023 |
| Amelocerebrohypohidrotic syndrome | 8 | Sep 13, 2019 |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 4 | Aug 3, 2017 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 4 | Apr 1, 2015 |
| Amelogenesis imperfecta hypomaturation type 2A3 | 4 | Dec 3, 2014 |
| Amelogenesis imperfecta hypomaturation type 2A4 | 5 | Oct 5, 2017 |
| Amelogenesis imperfecta hypomaturation type 2A5 | 3 | Oct 10, 2017 |
| Amelogenesis imperfecta type 1A | 3 | Nov 7, 2018 |
| Amelogenesis imperfecta type 1C | 1 | Aug 3, 2017 |
| Amelogenesis imperfecta type 1E | 11 | Jan 18, 2022 |
| Amelogenesis imperfecta type 1F | 2 | Nov 22, 2016 |
| Amelogenesis imperfecta type 1G | 9 | May 25, 2022 |
| Amelogenesis imperfecta type 1H | 4 | Feb 13, 2015 |
| Amelogenesis imperfecta type 2A1 | 2 | Apr 1, 2015 |
| Amelogenesis imperfecta type 3B | 1 | Aug 5, 2017 |
| Amelogenesis imperfecta, IIa 1K | 2 | Oct 26, 2022 |
| Amelogenesis imperfecta, hypomaturation type, IIa6 | 3 | Nov 21, 2016 |
| Amelogenesis imperfecta, type 1E, with snow-capped teeth | 2 | Jan 14, 2022 |
| Amelogenesis imperfecta, type 1J | 5 | Aug 15, 2019 |
| Amelogenesis imperfecta, type 3A | 13 | Jun 19, 2018 |
| Amelogenesis imperfecta, type 3C | 3 | Apr 11, 2019 |
| Aminoacylase 1 deficiency | 7 | Jan 9, 2018 |
| Aminoglycoside-induced deafness | 6 | Jun 4, 2022 |
| Amish lethal microcephaly | 1 | Feb 10, 2012 |
| Amyloidosis, hereditary systemic 1 | 43 | Jun 21, 2019 |
| Amyloidosis, hereditary systemic 5 | 3 | Oct 13, 2016 |
| Amyloidosis, hereditary systemic 6 | 1 | May 20, 2024 |
| Amyloidosis, primary localized cutaneous, 1 | 5 | Mar 7, 2017 |
| Amyloidosis, primary localized cutaneous, 2 | 1 | Apr 7, 2018 |
| Amyloidosis, primary localized cutaneous, 3 | 6 | Mar 27, 2018 |
| Amyotrophic lateral sclerosis 1, autosomal recessive | 3 | Aug 15, 2016 |
| Amyotrophic lateral sclerosis 22 with frontotemporal dementia | 1 | Jan 30, 2015 |
| Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | 1 | Jan 6, 2021 |
| Amyotrophic lateral sclerosis 27, juvenile | 6 | Mar 14, 2023 |
| Amyotrophic lateral sclerosis 28 | 1 | Aug 2, 2023 |
| Amyotrophic lateral sclerosis 6, autosomal recessive | 1 | Jun 23, 2017 |
| Amyotrophic lateral sclerosis type 1 | 33 | Sep 26, 2019 |
| Amyotrophic lateral sclerosis type 10 | 12 | Jun 30, 2021 |
| Amyotrophic lateral sclerosis type 11 | 3 | Oct 5, 2016 |
| Amyotrophic lateral sclerosis type 12 | 4 | Jan 5, 2021 |
| Amyotrophic lateral sclerosis type 15 | 6 | Feb 4, 2015 |
| Amyotrophic lateral sclerosis type 16 | 2 | Dec 17, 2015 |
| Amyotrophic lateral sclerosis type 18 | 4 | Jul 10, 2019 |
| Amyotrophic lateral sclerosis type 19 | 2 | Nov 6, 2013 |
| Amyotrophic lateral sclerosis type 2, juvenile | 4 | Feb 21, 2020 |
| Amyotrophic lateral sclerosis type 20 | 2 | Nov 5, 2013 |
| Amyotrophic lateral sclerosis type 21 | 4 | Dec 2, 2021 |
| Amyotrophic lateral sclerosis type 22 | 5 | Jan 30, 2015 |
| Amyotrophic lateral sclerosis type 23 | 3 | Jan 30, 2018 |
| Amyotrophic lateral sclerosis type 4 | 3 | Oct 18, 2017 |
| Amyotrophic lateral sclerosis type 5 | 6 | May 17, 2019 |
| Amyotrophic lateral sclerosis type 6 | 10 | Dec 23, 2020 |
| Amyotrophic lateral sclerosis type 8 | 2 | Aug 11, 2016 |
| Amyotrophic lateral sclerosis type 9 | 10 | Mar 18, 2019 |
| Amyotrophic lateral sclerosis, susceptibility to | 7 | Apr 16, 2018 |
| Amyotrophic lateral sclerosis, susceptibility to, 13 | 1 | Oct 31, 2019 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 4 | Feb 28, 2018 |
| Amyotrophic lateral sclerosis, susceptibility to, 25 | 4 | Mar 29, 2018 |
| Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to | 1 | May 8, 2017 |
| Amyotrophic neuralgia | 4 | May 23, 2016 |
| Analbuminemia | 6 | Jun 3, 2021 |
| Analbuminemia Baghdad | 1 | May 4, 2021 |
| Anaphylotoxin inactivator deficiency | 3 | Sep 23, 2024 |
| Anauxetic dysplasia 1 | 5 | Mar 21, 2017 |
| Anauxetic dysplasia 2 | 5 | Apr 10, 2017 |
| Anauxetic dysplasia 3 | 2 | May 1, 2020 |
| Andersen Tawil syndrome | 12 | Sep 26, 2012 |
| Androgen insensitivity, partial, with breast cancer | 1 | Apr 1, 2013 |
| Androgen resistance syndrome | 30 | Nov 1, 2019 |
| Anemia, congenital dyserythropoietic, type IIIb | 3 | Aug 11, 2023 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 15 | Oct 11, 2024 |
| Anemia, sideroblastic, 5 | 2 | Sep 17, 2021 |
| Anencephaly | 1 | Jul 22, 2021 |
| Anencephaly 2 | 1 | Jul 23, 2021 |
| Aneurysm, intracranial berry, 12 | 1 | Sep 13, 2021 |
| Aneurysm-osteoarthritis syndrome | 10 | Jun 17, 2016 |
| Angelman syndrome | 10 | Mar 15, 2018 |
| Angioedema, hereditary, 4 | 2 | Aug 3, 2021 |
| Angioedema, hereditary, 5 | 1 | Jun 9, 2021 |
| Angioedema, hereditary, 6 | 2 | Jun 9, 2021 |
| Angioedema, hereditary, 7 | 1 | Jun 8, 2021 |
| Angioedema, hereditary, 8 | 1 | Oct 13, 2021 |
| Angiofibroma, somatic | 2 | Nov 28, 2012 |
| Angiotensin i-converting enzyme, benign serum increase | 1 | Aug 5, 2016 |
| Anhaptoglobinemia | 3 | Oct 7, 2016 |
| Aniridia 1 | 16 | Jan 26, 2017 |
| Aniridia 3 | 1 | Oct 3, 2016 |
| Aniridia, atypical | 1 | Sep 26, 2016 |
| Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 4 | Oct 14, 2018 |
| Annular epidermolytic ichthyosis | 1 | Oct 29, 2021 |
| Anonychia | 8 | Sep 20, 2019 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 17 | Dec 26, 2019 |
| Anterior segment anomalies and cataract | 1 | Sep 19, 2019 |
| Anterior segment dysgenesis 3 | 7 | Jun 21, 2017 |
| Anterior segment dysgenesis 4 | 2 | Jan 26, 2017 |
| Anterior segment dysgenesis 6 | 6 | Jul 21, 2021 |
| Anterior segment dysgenesis 7 | 4 | Jan 26, 2017 |
| Anterior segment dysgenesis 8 | 3 | Dec 18, 2019 |
| Antidepressant drug treatment, accelerated response to | 1 | Jul 7, 2011 |
| Antigen in Scianna blood group system | 1 | Nov 23, 2016 |
| Antisocial behavior, susceptibility to | 1 | Apr 30, 2018 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 10 | Jul 17, 2017 |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 3 | Aug 9, 2018 |
| Aortic aneurysm, familial thoracic 10 | 4 | Oct 24, 2016 |
| Aortic aneurysm, familial thoracic 11, susceptibility to | 2 | Jan 6, 2018 |
| Aortic aneurysm, familial thoracic 12 | 5 | Apr 5, 2022 |
| Aortic aneurysm, familial thoracic 4 | 4 | May 27, 2021 |
| Aortic aneurysm, familial thoracic 6 | 5 | Oct 26, 2017 |
| Aortic aneurysm, familial thoracic 7 | 3 | Dec 23, 2019 |
| Aortic aneurysm, familial thoracic 8 | 1 | May 23, 2019 |
| Aortic aneurysm, familial thoracic 9 | 2 | May 22, 2015 |
| Aortic arch interruption | 1 | Sep 13, 2016 |
| Aortic valve disease 1 | 4 | Feb 5, 2020 |
| Aortic valve disease 2 | 5 | Dec 18, 2019 |
| Aortic valve disease 3 | 2 | Jul 9, 2019 |
| Aplasia cutis congenita | 1 | Sep 12, 2019 |
| Aplasia cutis-enamel dysplasia syndrome | 5 | Apr 18, 2024 |
| Aplastic anemia | 3 | Dec 1, 2016 |
| Aplastic anemia, susceptibility to | 2 | Mar 19, 2021 |
| Apocrine gland secretion, variation in | 2 | Feb 28, 2011 |
| Apolipoprotein A-I deficiency | 2 | Aug 19, 2019 |
| Apolipoprotein C-III, nonglycosylated | 1 | Jun 8, 2011 |
| Apolipoprotein c-III deficiency | 5 | Jan 25, 2018 |
| Apolipoprotein c-ii variant | 1 | Jul 8, 2008 |
| Apparent mineralocorticoid excess | 11 | Oct 21, 2016 |
| Apparent mineralocorticoid excess, mild | 2 | Oct 21, 2016 |
| Arginase deficiency | 12 | Jul 1, 2019 |
| Arginine:glycine amidinotransferase deficiency | 5 | Jun 11, 2020 |
| Argininosuccinate lyase deficiency | 7 | Nov 22, 2021 |
| Ariboflavinosis | 2 | Mar 7, 2018 |
| Armfield syndrome | 5 | Aug 27, 2020 |
| Aromatase deficiency | 10 | Mar 19, 2019 |
| Aromatase excess syndrome | 3 | Aug 4, 2016 |
| Arrhinia with choanal atresia and microphthalmia syndrome | 9 | Feb 27, 2017 |
| Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | 6 | Sep 22, 2023 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 11 | Jun 12, 2023 |
| Arrhythmogenic right ventricular dysplasia 1 | 2 | Apr 14, 2017 |
| Arrhythmogenic right ventricular dysplasia 10 | 9 | May 10, 2017 |
| Arrhythmogenic right ventricular dysplasia 11 | 3 | Sep 3, 2013 |
| Arrhythmogenic right ventricular dysplasia 12 | 1 | May 3, 2021 |
| Arrhythmogenic right ventricular dysplasia 13 | 2 | Feb 20, 2014 |
| Arrhythmogenic right ventricular dysplasia 5 | 2 | Sep 28, 2018 |
| Arrhythmogenic right ventricular dysplasia 8 | 4 | Jun 13, 2018 |
| Arrhythmogenic right ventricular dysplasia 9 | 4 | Jan 29, 2020 |
| Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair | 1 | Nov 14, 2014 |
| Arrhythmogenic right ventricular dysplasia, familial, 14 | 2 | Jun 23, 2020 |
| Arrhythmogenic right ventricular dysplasia, familial, 15 | 2 | Jun 26, 2023 |
| Arterial calcification, generalized, of infancy, 1 | 14 | Jun 28, 2021 |
| Arterial calcification, generalized, of infancy, 2 | 8 | Jun 18, 2018 |
| Arterial tortuosity syndrome | 6 | Jan 31, 2019 |
| Arterial tortuosity-bone fragility syndrome | 4 | Aug 2, 2024 |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 6 | Jul 30, 2020 |
| Arthrogryposis multiplex congenita 2, neurogenic type | 1 | Jul 31, 2020 |
| Arthrogryposis multiplex congenita 3, myogenic type | 3 | Jul 30, 2020 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 2 | Jul 30, 2020 |
| Arthrogryposis multiplex congenita 5 | 4 | May 12, 2022 |
| Arthrogryposis multiplex congenita 6 | 10 | May 28, 2021 |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 1 | Mar 1, 2021 |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 2 | Jan 2, 2019 |
| Arthrogryposis, distal, IIa 11 | 1 | Aug 25, 2022 |
| Arthrogryposis, distal, type 12 | 4 | Oct 19, 2023 |
| Arthrogryposis, distal, type 1A | 1 | May 17, 2019 |
| Arthrogryposis, distal, type 1B | 2 | Aug 22, 2019 |
| Arthrogryposis, distal, type 1C | 4 | Apr 13, 2022 |
| Arthrogryposis, distal, type 2B2 | 2 | May 17, 2019 |
| Arthrogryposis, distal, type 2B3 | 6 | May 20, 2019 |
| Arthrogryposis, distal, type 2B4 | 3 | May 17, 2019 |
| Arthrogryposis, distal, with impaired proprioception and touch | 8 | May 23, 2019 |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 9 | Aug 18, 2022 |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 7 | Aug 18, 2022 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 6 | Sep 11, 2018 |
| Arts syndrome | 4 | Sep 23, 2016 |
| Arylsulfatase A pseudodeficiency | 5 | Nov 7, 2018 |
| Arylsulfatase a pseudodeficiency, intermediate | 1 | Oct 11, 2016 |
| Arylsulfatase a pseudodeficiency, severe | 1 | Oct 11, 2016 |
| Arylsulfatase a, allele a | 1 | Nov 7, 2018 |
| Aspartate aminotransferase, serum level of, quantitative trait locus 1 | 1 | Sep 29, 2015 |
| Aspartylglucosaminuria | 10 | Nov 7, 2018 |
| Aspartylglucosaminuria, finnish type | 1 | May 5, 2015 |
| Aspergillosis, susceptibility to | 2 | Nov 7, 2018 |
| Asphyxiating thoracic dystrophy 2 | 6 | Nov 9, 2020 |
| Asphyxiating thoracic dystrophy 3 | 21 | Jun 19, 2018 |
| Asphyxiating thoracic dystrophy 4 | 4 | Jun 18, 2018 |
| Asphyxiating thoracic dystrophy 5 | 3 | May 2, 2022 |
| Asthma and nasal polyps | 1 | Nov 29, 2021 |
| Asthma, aspirin-induced, susceptibility to | 2 | Nov 29, 2021 |
| Asthma, diminished response to antileukotriene treatment in | 1 | May 3, 2019 |
| Asthma, nasal polyps, and aspirin intolerance | 1 | Mar 26, 2019 |
| Asthma, protection against | 1 | Oct 5, 2006 |
| Asthma-related traits, susceptibility to, 1 | 1 | May 30, 2007 |
| Asthma-related traits, susceptibility to, 2 | 1 | Aug 4, 2016 |
| Asthma-related traits, susceptibility to, 5 | 2 | Feb 27, 2019 |
| Asthma-related traits, susceptibility to, 7 | 1 | Nov 12, 2018 |
| Astrocytoma, low-grade, somatic | 1 | Mar 17, 2022 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 5 | May 3, 2017 |
| Ataxia - oculomotor apraxia type 4 | 5 | Oct 8, 2020 |
| Ataxia - telangiectasia variant | 6 | Sep 16, 2016 |
| Ataxia and polyneuropathy, adult-onset | 1 | Jan 29, 2019 |
| Ataxia and retinitis pigmentosa with isolated vitamin E deficiency | 1 | Jul 27, 2007 |
| Ataxia with oculomotor apraxia type 3 | 1 | Mar 3, 2021 |
| Ataxia, Friedreich-like, with isolated vitamin E deficiency | 6 | Mar 24, 2017 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 9 | Nov 6, 2012 |
| Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | 4 | Jun 8, 2021 |
| Ataxia, progressive seizures, mental deterioration, and hearing loss | 1 | Oct 1, 2002 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 7 | Sep 26, 2016 |
| Ataxia-pancytopenia syndrome | 4 | Dec 10, 2020 |
| Ataxia-telangiectasia syndrome | 14 | Sep 16, 2016 |
| Ataxia-telangiectasia without immunodeficiency | 2 | Sep 16, 2016 |
| Ataxia-telangiectasia-like disorder 1 | 6 | Dec 16, 2019 |
| Ataxia-telangiectasia-like disorder 2 | 1 | Apr 6, 2021 |
| Ateleiotic dwarfism | 4 | Sep 15, 2015 |
| Atelis syndrome 1 | 5 | Jan 9, 2023 |
| Atelis syndrome 2 | 3 | Feb 16, 2023 |
| Atelosteogenesis type I | 3 | Jun 5, 2019 |
| Atelosteogenesis type II | 5 | Mar 22, 2019 |
| Atelosteogenesis type III | 2 | Jun 5, 2019 |
| Athabaskan severe combined immunodeficiency | 1 | Sep 14, 2016 |
| Atherosclerosis, susceptibility to | 2 | May 3, 2019 |
| Atransferrinemia | 4 | Sep 2, 2016 |
| Atrial conduction disease | 4 | Apr 23, 2019 |
| Atrial fibrillation, familial, 10 | 7 | Nov 7, 2018 |
| Atrial fibrillation, familial, 11 | 6 | Apr 29, 2014 |
| Atrial fibrillation, familial, 12 | 1 | Jan 21, 2022 |
| Atrial fibrillation, familial, 13 | 2 | Aug 26, 2013 |
| Atrial fibrillation, familial, 14 | 2 | Sep 1, 2020 |
| Atrial fibrillation, familial, 15 | 1 | May 5, 2014 |
| Atrial fibrillation, familial, 16 | 4 | Apr 26, 2017 |
| Atrial fibrillation, familial, 17 | 2 | Sep 1, 2020 |
| Atrial fibrillation, familial, 18 | 1 | Dec 28, 2016 |
| Atrial fibrillation, familial, 3 | 5 | Feb 3, 2017 |
| Atrial fibrillation, familial, 4 | 1 | Feb 17, 2017 |
| Atrial fibrillation, familial, 6 | 2 | Apr 17, 2014 |
| Atrial fibrillation, familial, 7 | 6 | Aug 26, 2016 |
| Atrial fibrillation, familial, 8 | 1 | Nov 17, 2023 |
| Atrial fibrillation, familial, 9 | 1 | Sep 26, 2012 |
| Atrial fibrillation, somatic | 1 | Jun 20, 2011 |
| Atrial septal defect 2 | 8 | Sep 6, 2016 |
| Atrial septal defect 3 | 1 | Apr 17, 2018 |
| Atrial septal defect 4 | 3 | Mar 26, 2020 |
| Atrial septal defect 5 | 2 | Oct 6, 2016 |
| Atrial septal defect 6 | 3 | Oct 15, 2009 |
| Atrial septal defect 7 | 11 | Sep 13, 2016 |
| Atrial septal defect 8 | 2 | Feb 28, 2017 |
| Atrial septal defect 9 | 1 | Dec 10, 2012 |
| Atrial standstill 1, digenic | 2 | Nov 7, 2018 |
| Atrial standstill 2 | 1 | Apr 17, 2014 |
| Atrichia with papular lesions | 6 | Mar 31, 2021 |
| Atrioventricular septal defect 4 | 2 | Sep 6, 2016 |
| Atrioventricular septal defect 5 | 1 | Dec 10, 2012 |
| Atrioventricular septal defect and common atrioventricular junction | 2 | Jun 13, 2017 |
| Atrioventricular septal defect, partial, with heterotaxy syndrome | 1 | Jan 6, 2016 |
| Atrioventricular septal defect, somatic | 2 | Sep 13, 2016 |
| Atrioventricular septal defect, susceptibility to, 2 | 4 | Jan 6, 2016 |
| Atrophia bulborum hereditaria | 16 | Mar 11, 2021 |
| Attention deficit-hyperactivity disorder 8 | 1 | Jul 13, 2022 |
| Attention deficit-hyperactivity disorder, susceptibility to | 2 | Feb 20, 2017 |
| Attention deficit-hyperactivity disorder, susceptibility to, 7 | 1 | May 10, 2011 |
| Atypical Rett syndrome | 2 | Feb 26, 2018 |
| Atypical glycine encephalopathy | 3 | Jan 19, 2017 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 2 | Jun 28, 2021 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 4 | Aug 10, 2016 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 6 | Mar 31, 2021 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 6 | Mar 20, 2018 |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 3 | Sep 1, 2016 |
| Au-Kline syndrome | 9 | Jul 20, 2023 |
| Auditory neuropathy | 1 | Aug 4, 2011 |
| Auditory neuropathy, autosomal dominant 2 | 1 | May 23, 2023 |
| Auditory neuropathy, autosomal dominant 3 | 1 | Apr 8, 2022 |
| Auditory neuropathy, autosomal recessive, 1 | 6 | Aug 31, 2018 |
| Auditory neuropathy-optic atrophy syndrome | 4 | Oct 12, 2017 |
| Aural atresia, congenital | 2 | Feb 16, 2015 |
| Auriculocondylar syndrome 1 | 3 | Oct 16, 2024 |
| Auriculocondylar syndrome 2 | 10 | Mar 9, 2015 |
| Auriculocondylar syndrome 3 | 2 | Aug 4, 2016 |
| Auriculocondylar syndrome 4 | 1 | Sep 27, 2023 |
| Auroneurodental syndrome | 1 | Jun 5, 2024 |
| Autism | 1 | Jan 3, 2020 |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 6 | May 16, 2022 |
| Autism spectrum disorder due to AUTS2 deficiency | 4 | Apr 6, 2022 |
| Autism, severe | 1 | Apr 30, 2018 |
| Autism, susceptibility to, 1 | 1 | May 20, 2011 |
| Autism, susceptibility to, 10 | 2 | Feb 4, 2016 |
| Autism, susceptibility to, 15 | 3 | Dec 23, 2021 |
| Autism, susceptibility to, 16 | 1 | Dec 27, 2013 |
| Autism, susceptibility to, 17 | 3 | Jul 10, 2012 |
| Autism, susceptibility to, 19 | 1 | Feb 25, 2013 |
| Autism, susceptibility to, 20 | 3 | May 14, 2020 |
| Autism, susceptibility to, 5 | 7 | Jan 2, 2019 |
| Autism, susceptibility to, 9 | 1 | Nov 14, 2013 |
| Autism, susceptibility to, X-linked 1 | 1 | Dec 27, 2017 |
| Autism, susceptibility to, X-linked 2 | 3 | Aug 20, 2021 |
| Autism, susceptibility to, X-linked 3 | 3 | Feb 26, 2018 |
| Autism, susceptibility to, X-linked 4 | 3 | Sep 12, 2016 |
| Autism, susceptibility to, X-linked 5 | 2 | Jul 5, 2017 |
| Autoimmune disease, multisystem, infantile-onset, 2 | 2 | May 27, 2020 |
| Autoimmune disease, multisystem, infantile-onset, 3 | 3 | Jun 28, 2023 |
| Autoimmune disease, susceptibility to, 1 | 1 | Jun 24, 2021 |
| Autoimmune disease, susceptibility to, 6 | 4 | Dec 7, 2010 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 20 | Sep 8, 2022 |
| Autoimmune interstitial lung disease-arthritis syndrome | 7 | Oct 29, 2024 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 6 | Oct 29, 2021 |
| Autoimmune lymphoproliferative syndrome type 2A | 2 | Dec 2, 2016 |
| Autoimmune lymphoproliferative syndrome type 2B | 1 | Mar 23, 2022 |
| Autoimmune lymphoproliferative syndrome type 4 | 4 | Mar 9, 2022 |
| Autoimmune lymphoproliferative syndrome, type 1a | 17 | May 15, 2015 |
| Autoimmune lymphoproliferative syndrome, type 1b | 1 | Nov 11, 2014 |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 6 | Nov 8, 2021 |
| Autoimmune polyglandular syndrome type 1, autosomal dominant | 1 | Jan 21, 2022 |
| Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia | 2 | Jan 21, 2022 |
| Autoimmune thyroid disease, susceptibility to, 3 | 5 | Sep 1, 2016 |
| Autoinflammation with arthritis and dyskeratosis | 2 | Sep 30, 2019 |
| Autoinflammation with arthritis and vasculitis | 3 | Aug 1, 2024 |
| Autoinflammation with episodic fever and immune dysregulation | 2 | Apr 25, 2024 |
| Autoinflammation with episodic fever and lymphadenopathy | 4 | Apr 29, 2020 |
| Autoinflammation with pulmonary and cutaneous vasculitis | 1 | Mar 29, 2023 |
| Autoinflammation, immune dysregulation, and eosinophilia | 3 | Aug 29, 2022 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 2 | Mar 24, 2020 |
| Autoinflammatory disease, X-linked | 4 | May 27, 2022 |
| Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | 7 | Jul 12, 2023 |
| Autoinflammatory disease, systemic, with vasculitis | 4 | May 16, 2023 |
| Autoinflammatory syndrome with immunodeficiency | 4 | Jun 17, 2021 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 9 | Apr 8, 2022 |
| Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | 3 | Apr 8, 2022 |
| Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | 3 | Apr 29, 2022 |
| Autonomic nervous system dysfunction | 1 | Apr 18, 2013 |
| Autosomal dominant Alport syndrome | 2 | Jan 31, 2019 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2M | 3 | Aug 25, 2020 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 5 | Aug 20, 2019 |
| Autosomal dominant Kenny-Caffey syndrome | 2 | Jun 2, 2017 |
| Autosomal dominant Parkinson disease 1 | 5 | Dec 22, 2014 |
| Autosomal dominant Parkinson disease 4 | 1 | Dec 30, 2010 |
| Autosomal dominant Parkinson disease 8 | 8 | Oct 25, 2017 |
| Autosomal dominant Robinow syndrome 1 | 4 | Apr 24, 2015 |
| Autosomal dominant Robinow syndrome 2 | 6 | Aug 11, 2016 |
| Autosomal dominant Robinow syndrome 3 | 5 | Apr 4, 2016 |
| Autosomal dominant aplasia and myelodysplasia | 2 | Mar 31, 2021 |
| Autosomal dominant auditory neuropathy 1 | 2 | Apr 22, 2022 |
| Autosomal dominant centronuclear myopathy | 5 | Apr 14, 2021 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 3 | Nov 25, 2019 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 6 | Jan 30, 2019 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 4 | Apr 16, 2018 |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 | Aug 24, 2017 |
| Autosomal dominant distal renal tubular acidosis | 6 | Aug 28, 2020 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 6 | Mar 21, 2019 |
| Autosomal dominant hypocalcemia 1 | 21 | Feb 21, 2017 |
| Autosomal dominant hypocalcemia 2 | 5 | Sep 22, 2021 |
| Autosomal dominant hypophosphatemic rickets | 2 | Nov 16, 2010 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 7 | May 14, 2021 |
| Autosomal dominant isolated somatotropin deficiency | 13 | Nov 1, 2019 |
| Autosomal dominant keratitis | 1 | Jun 16, 2015 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 5 | Jan 16, 2020 |
| Autosomal dominant lamellar ichthyosis | 3 | Aug 26, 2020 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 10 | Aug 9, 2022 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 2 | Sep 27, 2018 |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 2 | Sep 27, 2018 |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 3 | Jul 17, 2020 |
| Autosomal dominant mitochondrial myopathy with exercise intolerance | 2 | Aug 25, 2022 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 3 | Sep 10, 2018 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2 | Jan 11, 2017 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 2 | Apr 19, 2018 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 7 | Jan 17, 2018 |
| Autosomal dominant nonsyndromic hearing loss 1 | 3 | Nov 25, 2019 |
| Autosomal dominant nonsyndromic hearing loss 10 | 4 | Sep 20, 2019 |
| Autosomal dominant nonsyndromic hearing loss 11 | 4 | Jul 19, 2017 |
| Autosomal dominant nonsyndromic hearing loss 12 | 9 | Jun 13, 2018 |
| Autosomal dominant nonsyndromic hearing loss 13 | 2 | May 17, 2017 |
| Autosomal dominant nonsyndromic hearing loss 15 | 10 | Aug 7, 2024 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Jun 25, 2018 |
| Autosomal dominant nonsyndromic hearing loss 20 | 8 | Aug 5, 2016 |
| Autosomal dominant nonsyndromic hearing loss 21 | 1 | Mar 31, 2022 |
| Autosomal dominant nonsyndromic hearing loss 22 | 3 | Aug 20, 2018 |
| Autosomal dominant nonsyndromic hearing loss 23 | 2 | Aug 16, 2019 |
| Autosomal dominant nonsyndromic hearing loss 25 | 2 | May 12, 2021 |
| Autosomal dominant nonsyndromic hearing loss 27 | 2 | Apr 22, 2022 |
| Autosomal dominant nonsyndromic hearing loss 28 | 2 | Jan 7, 2014 |
| Autosomal dominant nonsyndromic hearing loss 2A | 9 | Nov 22, 2019 |
| Autosomal dominant nonsyndromic hearing loss 2B | 2 | Jun 13, 2017 |
| Autosomal dominant nonsyndromic hearing loss 30 | 1 | Feb 16, 2024 |
| Autosomal dominant nonsyndromic hearing loss 36 | 4 | Jan 30, 2023 |
| Autosomal dominant nonsyndromic hearing loss 3A | 8 | May 6, 2020 |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 | May 26, 2022 |
| Autosomal dominant nonsyndromic hearing loss 40 | 2 | May 12, 2015 |
| Autosomal dominant nonsyndromic hearing loss 41 | 2 | Sep 2, 2014 |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 | Jan 8, 2018 |
| Autosomal dominant nonsyndromic hearing loss 48 | 6 | Oct 11, 2016 |
| Autosomal dominant nonsyndromic hearing loss 4A | 5 | Oct 11, 2016 |
| Autosomal dominant nonsyndromic hearing loss 4B | 2 | Apr 30, 2019 |
| Autosomal dominant nonsyndromic hearing loss 5 | 5 | Oct 1, 2021 |
| Autosomal dominant nonsyndromic hearing loss 50 | 2 | Jun 15, 2014 |
| Autosomal dominant nonsyndromic hearing loss 56 | 2 | Feb 7, 2014 |
| Autosomal dominant nonsyndromic hearing loss 6 | 7 | Sep 2, 2020 |
| Autosomal dominant nonsyndromic hearing loss 64 | 1 | Apr 4, 2013 |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 | Apr 4, 2019 |
| Autosomal dominant nonsyndromic hearing loss 66 | 1 | Jul 30, 2019 |
| Autosomal dominant nonsyndromic hearing loss 67 | 2 | Apr 30, 2015 |
| Autosomal dominant nonsyndromic hearing loss 68 | 2 | Jun 18, 2020 |
| Autosomal dominant nonsyndromic hearing loss 69 | 2 | Aug 31, 2016 |
| Autosomal dominant nonsyndromic hearing loss 7 | 2 | Feb 12, 2020 |
| Autosomal dominant nonsyndromic hearing loss 70 | 1 | Feb 18, 2021 |
| Autosomal dominant nonsyndromic hearing loss 9 | 9 | Aug 29, 2018 |
| Autosomal dominant omodysplasia | 1 | Feb 1, 2019 |
| Autosomal dominant optic atrophy classic form | 11 | Aug 18, 2016 |
| Autosomal dominant osteopetrosis 1 | 3 | May 11, 2021 |
| Autosomal dominant osteopetrosis 2 | 2 | Sep 4, 2018 |
| Autosomal dominant palmoplantar keratoderma and congenital alopecia | 1 | Oct 20, 2017 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 19 | Oct 6, 2010 |
| Autosomal dominant rhegmatogenous retinal detachment | 2 | May 16, 2017 |
| Autosomal dominant sensory ataxia 1 | 1 | Jan 5, 2022 |
| Autosomal dominant sideroblastic anemia | 2 | Jul 12, 2017 |
| Autosomal dominant slowed nerve conduction velocity | 1 | Aug 15, 2019 |
| Autosomal dominant striatal neurodegeneration type 1 | 3 | Jun 7, 2016 |
| Autosomal dominant vitreoretinochoroidopathy | 3 | Oct 19, 2016 |
| Autosomal dominant wooly hair | 2 | Jul 20, 2017 |
| Autosomal recessive Alport syndrome | 10 | Jan 31, 2019 |
| Autosomal recessive DOPA responsive dystonia | 11 | Jul 16, 2021 |
| Autosomal recessive Dejerine-Sottas syndrome | 9 | Mar 9, 2018 |
| Autosomal recessive Kenny-Caffey syndrome | 1 | Nov 29, 2016 |
| Autosomal recessive Parkinson disease 14 | 6 | Jul 19, 2017 |
| Autosomal recessive Robinow syndrome | 7 | Aug 8, 2019 |
| Autosomal recessive agammaglobulinemia 1 | 5 | Sep 9, 2013 |
| Autosomal recessive amelia | 2 | Aug 4, 2020 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 11 | Sep 20, 2019 |
| Autosomal recessive ataxia, Beauce type | 10 | Jul 11, 2019 |
| Autosomal recessive axonal neuropathy with neuromyotonia | 7 | Apr 29, 2017 |
| Autosomal recessive bestrophinopathy | 4 | Oct 19, 2016 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 7 | Sep 17, 2018 |
| Autosomal recessive complex spastic paraplegia type 9B | 3 | Jan 11, 2016 |
| Autosomal recessive congenital ichthyosis 1 | 39 | Aug 4, 2016 |
| Autosomal recessive congenital ichthyosis 10 | 6 | Jun 10, 2019 |
| Autosomal recessive congenital ichthyosis 11 | 4 | Jan 18, 2022 |
| Autosomal recessive congenital ichthyosis 2 | 13 | Jun 10, 2019 |
| Autosomal recessive congenital ichthyosis 3 | 8 | May 5, 2015 |
| Autosomal recessive congenital ichthyosis 4A | 5 | Oct 19, 2016 |
| Autosomal recessive congenital ichthyosis 4B | 8 | Apr 21, 2022 |
| Autosomal recessive congenital ichthyosis 5 | 5 | Jan 17, 2013 |
| Autosomal recessive congenital ichthyosis 6 | 4 | Jan 17, 2013 |
| Autosomal recessive congenital ichthyosis 8 | 1 | Jan 17, 2013 |
| Autosomal recessive congenital ichthyosis 9 | 2 | Apr 11, 2018 |
| Autosomal recessive cutis laxa type 2B | 7 | Dec 16, 2016 |
| Autosomal recessive cutis laxa type 2C | 2 | Mar 22, 2019 |
| Autosomal recessive cutis laxa type 2D | 2 | Mar 27, 2017 |
| Autosomal recessive distal spinal muscular atrophy 1 | 9 | Oct 10, 2016 |
| Autosomal recessive distal spinal muscular atrophy 2 | 1 | Nov 24, 2015 |
| Autosomal recessive dyskeratosis congenita 4 | 5 | Jul 7, 2022 |
| Autosomal recessive early-onset Parkinson disease 23 | 5 | Dec 20, 2019 |
| Autosomal recessive early-onset Parkinson disease 6 | 14 | Sep 18, 2018 |
| Autosomal recessive early-onset Parkinson disease 7 | 6 | Dec 8, 2017 |
| Autosomal recessive hypophosphatemic bone disease | 10 | Mar 16, 2016 |
| Autosomal recessive infantile epilepsy | 1 | Nov 25, 2013 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 25 | Jun 18, 2018 |
| Autosomal recessive juvenile Parkinson disease 2 | 21 | Sep 7, 2017 |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | 10 | Aug 8, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 10 | Sep 26, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 16 | Jun 24, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 6 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 7 | Sep 27, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 9 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 5 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 2 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 9 | Sep 26, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 4 | Apr 17, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 3 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 6 | Sep 27, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 5 | Jun 6, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 2 | Sep 30, 2016 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 2 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 3 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2R1 | 7 | Oct 4, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 8 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 2 | Sep 25, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 2 | Mar 22, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2X | 6 | Aug 25, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | 1 | Sep 26, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 6 | Jul 5, 2024 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 3 | Aug 19, 2016 |
| Autosomal recessive multiple pterygium syndrome | 9 | Mar 1, 2017 |
| Autosomal recessive nonsyndromic hearing loss 101 | 1 | Jun 6, 2014 |
| Autosomal recessive nonsyndromic hearing loss 102 | 1 | Oct 1, 2019 |
| Autosomal recessive nonsyndromic hearing loss 103 | 1 | Jan 15, 2015 |
| Autosomal recessive nonsyndromic hearing loss 104 | 1 | Aug 12, 2015 |
| Autosomal recessive nonsyndromic hearing loss 12 | 7 | Oct 4, 2016 |
| Autosomal recessive nonsyndromic hearing loss 124 | 6 | Apr 23, 2024 |
| Autosomal recessive nonsyndromic hearing loss 15 | 6 | Nov 9, 2020 |
| Autosomal recessive nonsyndromic hearing loss 16 | 3 | Oct 18, 2016 |
| Autosomal recessive nonsyndromic hearing loss 18A | 2 | Nov 25, 2019 |
| Autosomal recessive nonsyndromic hearing loss 18B | 3 | Feb 10, 2015 |
| Autosomal recessive nonsyndromic hearing loss 1A | 24 | May 7, 2020 |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 | May 26, 2022 |
| Autosomal recessive nonsyndromic hearing loss 2 | 6 | May 21, 2019 |
| Autosomal recessive nonsyndromic hearing loss 22 | 4 | Feb 18, 2014 |
| Autosomal recessive nonsyndromic hearing loss 23 | 3 | Feb 13, 2013 |
| Autosomal recessive nonsyndromic hearing loss 24 | 4 | Sep 17, 2013 |
| Autosomal recessive nonsyndromic hearing loss 25 | 4 | Aug 9, 2010 |
| Autosomal recessive nonsyndromic hearing loss 26 | 1 | Aug 6, 2021 |
| Autosomal recessive nonsyndromic hearing loss 28 | 8 | Nov 27, 2017 |
| Autosomal recessive nonsyndromic hearing loss 29 | 6 | Apr 6, 2015 |
| Autosomal recessive nonsyndromic hearing loss 3 | 12 | Jan 2, 2013 |
| Autosomal recessive nonsyndromic hearing loss 30 | 3 | Aug 22, 2012 |
| Autosomal recessive nonsyndromic hearing loss 31 | 2 | Aug 14, 2015 |
| Autosomal recessive nonsyndromic hearing loss 32 | 7 | Aug 6, 2018 |
| Autosomal recessive nonsyndromic hearing loss 35 | 3 | Jan 18, 2018 |
| Autosomal recessive nonsyndromic hearing loss 36 | 2 | Oct 22, 2019 |
| Autosomal recessive nonsyndromic hearing loss 37 | 3 | Nov 11, 2010 |
| Autosomal recessive nonsyndromic hearing loss 39 | 3 | Sep 19, 2012 |
| Autosomal recessive nonsyndromic hearing loss 4 | 17 | Sep 21, 2018 |
| Autosomal recessive nonsyndromic hearing loss 42 | 4 | Oct 5, 2016 |
| Autosomal recessive nonsyndromic hearing loss 44 | 1 | Jul 9, 2014 |
| Autosomal recessive nonsyndromic hearing loss 48 | 3 | Aug 4, 2016 |
| Autosomal recessive nonsyndromic hearing loss 49 | 5 | Mar 8, 2022 |
| Autosomal recessive nonsyndromic hearing loss 53 | 3 | Dec 18, 2015 |
| Autosomal recessive nonsyndromic hearing loss 59 | 7 | Dec 23, 2019 |
| Autosomal recessive nonsyndromic hearing loss 6 | 6 | Oct 19, 2016 |
| Autosomal recessive nonsyndromic hearing loss 61 | 3 | Jul 17, 2020 |
| Autosomal recessive nonsyndromic hearing loss 63 | 5 | Jun 2, 2015 |
| Autosomal recessive nonsyndromic hearing loss 66 | 1 | Apr 13, 2022 |
| Autosomal recessive nonsyndromic hearing loss 67 | 6 | Oct 23, 2024 |
| Autosomal recessive nonsyndromic hearing loss 68 | 2 | Oct 19, 2017 |
| Autosomal recessive nonsyndromic hearing loss 7 | 4 | Sep 8, 2018 |
| Autosomal recessive nonsyndromic hearing loss 70 | 3 | Jul 11, 2022 |
| Autosomal recessive nonsyndromic hearing loss 74 | 2 | Oct 29, 2020 |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 | Nov 6, 2014 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Jan 7, 2013 |
| Autosomal recessive nonsyndromic hearing loss 79 | 5 | Aug 30, 2013 |
| Autosomal recessive nonsyndromic hearing loss 8 | 7 | Oct 4, 2016 |
| Autosomal recessive nonsyndromic hearing loss 84A | 2 | Sep 7, 2017 |
| Autosomal recessive nonsyndromic hearing loss 84B | 3 | Apr 4, 2017 |
| Autosomal recessive nonsyndromic hearing loss 86 | 2 | Apr 4, 2019 |
| Autosomal recessive nonsyndromic hearing loss 88 | 1 | Aug 24, 2021 |
| Autosomal recessive nonsyndromic hearing loss 89 | 2 | Mar 1, 2021 |
| Autosomal recessive nonsyndromic hearing loss 9 | 9 | Sep 4, 2018 |
| Autosomal recessive nonsyndromic hearing loss 91 | 1 | Jul 28, 2014 |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 | Oct 26, 2012 |
| Autosomal recessive nonsyndromic hearing loss 97 | 1 | Jan 23, 2020 |
| Autosomal recessive nonsyndromic hearing loss 98 | 1 | Nov 6, 2018 |
| Autosomal recessive omodysplasia | 7 | May 1, 2017 |
| Autosomal recessive optic atrophy, OPA7 type | 1 | Sep 26, 2014 |
| Autosomal recessive osteopetrosis 1 | 7 | Jul 13, 2018 |
| Autosomal recessive osteopetrosis 2 | 3 | Oct 8, 2019 |
| Autosomal recessive osteopetrosis 4 | 4 | Sep 4, 2018 |
| Autosomal recessive osteopetrosis 5 | 3 | Sep 10, 2018 |
| Autosomal recessive osteopetrosis 6 | 1 | Sep 4, 2018 |
| Autosomal recessive osteopetrosis 7 | 5 | Sep 5, 2018 |
| Autosomal recessive osteopetrosis 8 | 2 | Jul 1, 2014 |
| Autosomal recessive polycystic kidney disease | 9 | Oct 20, 2017 |
| Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | 1 | Mar 25, 2014 |
| Autosomal recessive proximal renal tubular acidosis | 5 | Jun 20, 2024 |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 5 | Oct 7, 2016 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 7 | Nov 4, 2020 |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 5 | Mar 23, 2021 |
| Autosomal recessive spastic paraplegia type 76 | 4 | May 9, 2016 |
| Autosomal recessive spastic paraplegia type 78 | 5 | Feb 1, 2017 |
| Autosomal recessive spinocerebellar ataxia 10 | 7 | Jan 4, 2022 |
| Autosomal recessive spinocerebellar ataxia 11 | 1 | Jul 30, 2018 |
| Autosomal recessive spinocerebellar ataxia 12 | 2 | Jul 21, 2017 |
| Autosomal recessive spinocerebellar ataxia 13 | 3 | Nov 18, 2020 |
| Autosomal recessive spinocerebellar ataxia 14 | 3 | Mar 23, 2021 |
| Autosomal recessive spinocerebellar ataxia 15 | 1 | Sep 11, 2020 |
| Autosomal recessive spinocerebellar ataxia 16 | 11 | Aug 11, 2021 |
| Autosomal recessive spinocerebellar ataxia 17 | 3 | Aug 24, 2016 |
| Autosomal recessive spinocerebellar ataxia 18 | 4 | Mar 6, 2018 |
| Autosomal recessive spinocerebellar ataxia 2 | 4 | Oct 12, 2016 |
| Autosomal recessive spinocerebellar ataxia 20 | 8 | Jul 24, 2020 |
| Autosomal recessive spinocerebellar ataxia 7 | 3 | May 4, 2016 |
| Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | 2 | Jul 22, 2019 |
| Autosomal systemic lupus erythematosus type 16 | 1 | Jan 10, 2012 |
| Avascular necrosis of femoral head, primary, 1 | 3 | Mar 2, 2017 |
| Avascular necrosis of femoral head, primary, 2 | 1 | Mar 3, 2017 |
| Avellino corneal dystrophy | 1 | Feb 11, 2020 |
| Axenfeld-Rieger syndrome type 1 | 10 | Jun 4, 2018 |
| Axenfeld-Rieger syndrome type 3 | 5 | Jun 21, 2017 |
| Axial spondylometaphyseal dysplasia | 8 | Jul 17, 2018 |
| Axillary odor | 1 | Feb 28, 2011 |
| Ayme-Gripp syndrome | 6 | Feb 10, 2016 |
| Azoospermia, obstructive, with nephrolithiasis | 1 | Mar 23, 2021 |
| Azorean disease | 1 | Nov 1, 2019 |
| B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 4 | Nov 4, 2021 |
| B-cell non-Hodgkin lymphoma | 1 | Mar 14, 2013 |
| B4GALT1-congenital disorder of glycosylation | 3 | Mar 2, 2021 |
| BAK PLATELET-SPECIFIC ANTIGEN | 1 | Apr 13, 2021 |
| BAND 3 MEMPHIS | 1 | Nov 13, 2017 |
| BAP1-related tumor predisposition syndrome | 10 | Oct 10, 2019 |
| BARDET-BIEDL SYNDROME 2/6, DIGENIC | 6 | Feb 12, 2018 |
| BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS | 2 | May 12, 2016 |
| BCHE Cynthiana | 1 | Apr 24, 2018 |
| BCHE Johannesburg | 1 | Apr 24, 2018 |
| BCHE Newfoundland | 1 | Jul 9, 2016 |
| BCHE, H variant | 1 | Apr 24, 2018 |
| BCHE, J variant | 1 | Apr 24, 2018 |
| BCHE, flouride 1 | 1 | Apr 24, 2018 |
| BCHE, fluoride 2 | 1 | Apr 24, 2018 |
| BDV syndrome | 4 | Dec 2, 2021 |
| BECKER NEVUS SYNDROME, SOMATIC, MOSAIC | 1 | Aug 9, 2023 |
| BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC | 1 | Aug 9, 2023 |
| BECKER NEVUS, SOMATIC, MOSAIC | 1 | Aug 11, 2023 |
| BENTA disease | 4 | Aug 22, 2017 |
| BETA-GLUCOPYRANOSIDE TASTING | 1 | Dec 11, 2019 |
| BETA-THALASSEMIA INTERMEDIA, DOMINANT | 1 | Dec 12, 2017 |
| BETA-THALASSEMIA, ASHKENAZI JEWISH TYPE | 1 | Dec 12, 2017 |
| BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE | 6 | Jul 15, 2024 |
| BF*FA/S | 1 | Oct 30, 2017 |
| BLEOMYCIN HYDROLASE POLYMORPHISM | 1 | Nov 23, 2009 |
| BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | 11 | Jun 29, 2018 |
| BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | 7 | Mar 28, 2018 |
| BLOOD GROUP ERIK | 1 | Apr 8, 2013 |
| BLOOD GROUP, SID SYSTEM | 4 | Dec 15, 2021 |
| BLOOD GROUP--FROESE | 1 | Aug 4, 2016 |
| BLOOD GROUP--LUTHERAN INHIBITOR | 7 | Sep 5, 2013 |
| BLOOD GROUP--LUTHERAN NULL | 4 | Aug 28, 2018 |
| BLOOD GROUP--OK | 1 | Jan 18, 2012 |
| BLOOD GROUP--WALDNER TYPE | 1 | Sep 15, 2016 |
| BLOOD GROUP--WRIGHT ANTIGEN | 1 | Mar 15, 2013 |
| BNAR syndrome | 4 | Aug 4, 2021 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | 5 | Mar 28, 2018 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 20 | May 7, 2019 |
| BOMBAY PHENOTYPE, DIGENIC | 2 | Dec 19, 2018 |
| BRAIN MALFORMATION RENAL SYNDROME | 4 | Sep 16, 2024 |
| BREAST CANCER, PROTECTION AGAINST | 1 | Sep 20, 2016 |
| BRONCHIECTASIS AND NASAL POLYPOSIS | 4 | Oct 17, 2024 |
| Bacteremia, susceptibility | 1 | Jun 20, 2020 |
| Bacteremia, susceptibility to, 2 | 1 | Dec 8, 2011 |
| Bailey-Bloch congenital myopathy | 5 | Jun 4, 2020 |
| Baller-Gerold syndrome | 3 | Jun 11, 2021 |
| Bamforth-Lazarus syndrome | 4 | Jan 30, 2023 |
| Band heterotopia of brain | 4 | Jul 9, 2018 |
| Baraitser-Winter syndrome 1 | 9 | Mar 8, 2018 |
| Baraitser-winter syndrome 2 | 6 | Aug 5, 2016 |
| Baralle-Macken syndrome | 2 | Apr 9, 2021 |
| Barber-Say syndrome | 3 | Nov 15, 2019 |
| Bardet-Biedl syndrome 1 | 6 | Dec 16, 2014 |
| Bardet-Biedl syndrome 1, modifier of | 3 | Oct 27, 2014 |
| Bardet-Biedl syndrome 1/7, digenic | 2 | Oct 16, 2014 |
| Bardet-Biedl syndrome 10 | 6 | Apr 3, 2018 |
| Bardet-Biedl syndrome 11 | 1 | Mar 10, 2022 |
| Bardet-Biedl syndrome 12 | 5 | Dec 1, 2017 |
| Bardet-Biedl syndrome 12, modifier of | 1 | Mar 30, 2018 |
| Bardet-Biedl syndrome 13 | 4 | Sep 23, 2016 |
| Bardet-Biedl syndrome 14 | 1 | Oct 27, 2014 |
| Bardet-Biedl syndrome 14, modifier of | 1 | Aug 9, 2016 |
| Bardet-Biedl syndrome 15 | 3 | May 2, 2024 |
| Bardet-Biedl syndrome 16 | 4 | Oct 21, 2016 |
| Bardet-Biedl syndrome 17 | 4 | May 2, 2024 |
| Bardet-Biedl syndrome 18 | 2 | May 2, 2024 |
| Bardet-Biedl syndrome 19 | 4 | May 2, 2024 |
| Bardet-Biedl syndrome 2 | 9 | Apr 25, 2017 |
| Bardet-Biedl syndrome 20 | 5 | Aug 5, 2021 |
| Bardet-Biedl syndrome 22 | 3 | Oct 21, 2021 |
| Bardet-Biedl syndrome 3 | 5 | Sep 3, 2020 |
| Bardet-Biedl syndrome 4 | 4 | May 18, 2020 |
| Bardet-Biedl syndrome 5 | 6 | Aug 25, 2017 |
| Bardet-Biedl syndrome 6 | 7 | Aug 25, 2020 |
| Bardet-Biedl syndrome 7 | 3 | Oct 16, 2014 |
| Bardet-Biedl syndrome 8 | 4 | Oct 16, 2014 |
| Bardet-Biedl syndrome 9 | 8 | Jun 20, 2017 |
| Bardet-biedl syndrome 1/10, digenic | 1 | Apr 3, 2018 |
| Bardet-biedl syndrome 1/2, digenic | 3 | Apr 25, 2017 |
| Bardet-biedl syndrome 2/4, digenic | 2 | Apr 25, 2017 |
| Bardet-biedl syndrome 21 | 2 | Sep 25, 2019 |
| Bardet-biedl syndrome 6/10, digenic | 1 | Apr 3, 2018 |
| Barrett esophagus/esophageal adenocarcinoma | 3 | Jan 3, 2020 |
| Bartsocas-Papas syndrome 1 | 5 | May 26, 2021 |
| Bartsocas-Papas syndrome 2 | 1 | May 26, 2021 |
| Bartter disease type 1 | 10 | Mar 2, 2017 |
| Bartter disease type 2 | 10 | Oct 13, 2017 |
| Bartter disease type 3 | 7 | May 12, 2016 |
| Bartter disease type 4A | 8 | Mar 3, 2021 |
| Bartter disease type 4B | 2 | Oct 16, 2009 |
| Bartter disease type 5 | 5 | Sep 23, 2016 |
| Bartter syndrome with hypocalcemia | 4 | Feb 21, 2017 |
| Bartter syndrome, type 3, with hypocalciuria | 2 | May 12, 2016 |
| Basal cell carcinoma, somatic | 8 | Oct 11, 2019 |
| Basal cell carcinoma, susceptibility to, 7 | 1 | Aug 30, 2016 |
| Basal cell nevus syndrome 1 | 11 | Jun 12, 2024 |
| Basal cell nevus syndrome 2 | 2 | May 17, 2023 |
| Basal ganglia calcification, idiopathic, 4 | 2 | Aug 24, 2016 |
| Basal ganglia calcification, idiopathic, 5 | 5 | Aug 14, 2017 |
| Basal ganglia calcification, idiopathic, 6 | 4 | Jun 9, 2015 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 9 | Jun 24, 2019 |
| Basal ganglia calcification, idiopathic, 8, autosomal recessive | 8 | Mar 30, 2020 |
| Basal ganglia calcification, idiopathic, 9, autosomal recessive | 6 | Apr 16, 2024 |
| Basal laminar drusen | 4 | Jun 11, 2019 |
| Basan syndrome | 2 | Mar 14, 2019 |
| Basilicata-Akhtar syndrome | 6 | Aug 7, 2022 |
| Beaded hair | 10 | Nov 2, 2017 |
| Beare-Stevenson cutis gyrata syndrome | 3 | Aug 10, 2018 |
| Beck-Fahrner syndrome | 9 | Jun 16, 2020 |
| Becker muscular dystrophy | 14 | May 8, 2018 |
| Becker muscular dystrophy, atypical | 3 | Jul 3, 2017 |
| Beckwith-Wiedemann syndrome | 9 | Oct 26, 2017 |
| Benign concentric annular macular dystrophy | 3 | Sep 10, 2021 |
| Benign familial hematuria | 2 | Jan 31, 2019 |
| Benign hereditary chorea | 6 | Mar 9, 2018 |
| Benign paroxysmal tonic upgaze of childhood with ataxia | 5 | Apr 30, 2024 |
| Benign recurrent intrahepatic cholestasis type 1 | 3 | Oct 29, 2016 |
| Benign recurrent intrahepatic cholestasis type 2 | 2 | Nov 30, 2016 |
| Bent bone dysplasia syndrome 1 | 2 | Sep 6, 2016 |
| Bent bone dysplasia syndrome 2 | 2 | Oct 13, 2022 |
| Benzene toxicity, susceptibility to | 1 | Oct 2, 2012 |
| Bernard-Soulier syndrome type C | 6 | Aug 25, 2017 |
| Bernard-Soulier syndrome, type A1 | 3 | Mar 28, 2013 |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 2 | Mar 28, 2013 |
| Bernard-Soulier syndrome, type B | 2 | Oct 4, 2010 |
| Beryllium disease, chronic, susceptibility to | 1 | Oct 7, 2009 |
| Beta thalassemia intermedia | 1 | Dec 12, 2017 |
| Beta zero thalassemia | 54 | Aug 3, 2021 |
| Beta-2-adrenoreceptor agonist, reduced response to | 2 | Aug 4, 2016 |
| Beta-D-mannosidosis | 9 | Aug 3, 2015 |
| Beta-Knossos-thalassemia | 1 | Dec 12, 2017 |
| Beta-Malay-thalassemia | 1 | Dec 12, 2017 |
| Beta-Showa-Yakushiji thalassemia | 1 | Dec 12, 2017 |
| Beta-aminoisobutyric acid, urinary excretion of | 1 | Jun 1, 2017 |
| Beta-hexosaminidase a, pseudodeficiency of | 1 | Nov 29, 2012 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 10 | Feb 29, 2024 |
| Beta-plus-thalassemia | 44 | Jul 16, 2019 |
| Beta-plus-thalassemia, dominant | 1 | Dec 12, 2017 |
| Beta-thalassemia, lermontov type | 1 | Dec 12, 2017 |
| Beta-thalassemia-X-linked thrombocytopenia syndrome | 2 | Dec 20, 2016 |
| Bethlem myopathy 1A | 7 | Aug 15, 2016 |
| Bethlem myopathy 1B | 4 | Aug 25, 2017 |
| Bethlem myopathy 1C | 6 | Jul 15, 2024 |
| Bethlem myopathy 2 | 5 | Jun 14, 2023 |
| Bietti crystalline corneoretinal dystrophy | 9 | Sep 26, 2015 |
| Bifunctional peroxisomal enzyme deficiency | 7 | Sep 17, 2013 |
| Bilateral frontoparietal polymicrogyria | 13 | Sep 12, 2023 |
| Bilateral microtia-deafness-cleft palate syndrome | 1 | Apr 20, 2018 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 1 | Sep 9, 2019 |
| Bile acid conjugation defect 1 | 5 | Dec 14, 2021 |
| Bile acid malabsorption, primary, 1 | 2 | Aug 13, 2021 |
| Bile acid malabsorption, primary, 2 | 1 | Aug 13, 2021 |
| Biliary, renal, neurologic, and skeletal syndrome | 3 | Oct 4, 2021 |
| Bilirubin, serum level of, quantitative trait locus 1 | 3 | Jan 3, 2018 |
| Biotin-responsive basal ganglia disease | 7 | Dec 14, 2017 |
| Biotinidase deficiency | 13 | Aug 6, 2020 |
| Bipolar affective disorder, susceptibility to | 1 | May 10, 2011 |
| Birbeck granule deficiency | 1 | Aug 15, 2018 |
| Birk-Barel syndrome | 3 | Jan 25, 2023 |
| Birt-Hogg-Dube syndrome | 9 | May 23, 2023 |
| Bjornstad syndrome with mild mitochondrial complex III deficiency | 2 | Jan 17, 2017 |
| Bladder cancer, transitional cell, somatic | 1 | Feb 6, 2013 |
| Blau syndrome | 8 | Jun 12, 2018 |
| Bleeding disorder, platelet-type, 13, susceptibility to | 3 | Mar 3, 2015 |
| Bleeding disorder, platelet-type, 21 | 6 | Apr 25, 2017 |
| Bleeding disorder, platelet-type, 22 | 1 | Jun 11, 2019 |
| Bleeding disorder, platelet-type, 24 | 3 | May 3, 2013 |
| Bleeding disorder, platelet-type, 25 | 3 | Aug 28, 2023 |
| Bleeding disorder, vascular-type | 1 | Feb 16, 2024 |
| Blepharocheilodontic syndrome 1 | 4 | Sep 21, 2017 |
| Blepharocheilodontic syndrome 2 | 3 | Sep 20, 2017 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 4 | Feb 1, 2021 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 7 | Aug 18, 2020 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Apr 18, 2017 |
| Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome | 1 | Apr 17, 2012 |
| Blepharophimosis-impaired intellectual development syndrome | 5 | Apr 30, 2021 |
| Blepharospasm | 1 | May 18, 2018 |
| Blistering, acantholytic, of oral and laryngeal mucosa | 1 | Mar 9, 2021 |
| Blood group, Dombrock system | 5 | Oct 23, 2014 |
| Blood group, ER | 5 | Jan 26, 2023 |
| Blood group, Gerbich system | 3 | Oct 13, 2016 |
| Blood group, Junior system | 7 | Apr 3, 2018 |
| Blood group, P1PK system, P(k) phenotype | 4 | Feb 7, 2013 |
| Bloom syndrome | 4 | Sep 30, 2016 |
| Blue color blindness | 3 | Aug 30, 2010 |
| Body mass index quantitative trait locus 10 | 1 | Nov 6, 2017 |
| Body mass index quantitative trait locus 12 | 1 | Nov 11, 2015 |
| Body mass index quantitative trait locus 18 | 1 | Apr 20, 2016 |
| Body mass index quantitative trait locus 4 | 1 | Nov 11, 2015 |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 9 | Nov 16, 2017 |
| Bohring-Opitz syndrome | 8 | Aug 16, 2022 |
| Bombay phenotype | 2 | Dec 19, 2018 |
| Bone fragility with contractures, arterial rupture, and deafness | 2 | May 13, 2015 |
| Bone marrow failure and diabetes mellitus syndrome | 1 | Sep 22, 2022 |
| Bone marrow failure syndrome 3 | 6 | Jan 30, 2019 |
| Bone marrow failure syndrome 4 | 2 | Sep 13, 2018 |
| Bone marrow failure syndrome 5 | 2 | May 18, 2020 |
| Bone marrow failure syndrome 6 | 1 | Aug 11, 2021 |
| Bone mineral density quantitative trait locus 1 | 1 | Mar 14, 2013 |
| Bone mineral density quantitative trait locus 12 | 1 | Dec 16, 2011 |
| Bone mineral density quantitative trait locus 15 | 3 | Feb 26, 2013 |
| Bone mineral density quantitative trait locus 17 | 1 | Nov 10, 2021 |
| Bone mineral density quantitative trait locus 18 | 3 | Sep 20, 2017 |
| Bone mineral density variation quantitative trait locus | 3 | Apr 4, 2013 |
| Bone osteosarcoma | 4 | Nov 21, 2017 |
| Boomerang dysplasia | 2 | Jun 5, 2019 |
| Borjeson-Forssman-Lehmann syndrome | 11 | Feb 17, 2017 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 9 | Mar 30, 2021 |
| Bosley-Salih-Alorainy syndrome | 3 | Aug 27, 2020 |
| Bothnia retinal dystrophy | 1 | Jul 16, 2009 |
| Boudin-Mortier syndrome | 4 | Sep 24, 2021 |
| Bowen-Conradi syndrome | 1 | Mar 15, 2012 |
| Brachycephaly, trichomegaly, and developmental delay | 2 | Aug 11, 2017 |
| Brachydactyly type A1 | 15 | Sep 26, 2024 |
| Brachydactyly type A1C | 1 | Mar 20, 2013 |
| Brachydactyly type A1D | 2 | Mar 4, 2016 |
| Brachydactyly type B1 | 7 | Aug 8, 2019 |
| Brachydactyly type B2 | 3 | Mar 15, 2019 |
| Brachydactyly type C | 5 | Apr 3, 2020 |
| Brachydactyly type D | 2 | May 2, 2016 |
| Brachydactyly type E | 2 | May 2, 2016 |
| Brachydactyly type E2 | 4 | Apr 24, 2018 |
| Brachydactyly-arterial hypertension syndrome | 6 | Dec 28, 2020 |
| Brachydactyly-syndactyly syndrome | 1 | Feb 22, 2022 |
| Brachydactyly-syndactyly-oligodactyly syndrome | 1 | Aug 12, 2016 |
| Brachyolmia-amelogenesis imperfecta syndrome | 9 | May 11, 2018 |
| Brachyrachia (short spine dysplasia) | 2 | Sep 7, 2021 |
| Braddock-carey syndrome 2 | 1 | Jul 30, 2022 |
| Bradyopsia | 3 | Apr 24, 2023 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 7 | Jun 21, 2019 |
| Brain dopamine-serotonin vesicular transport disease | 6 | Dec 11, 2023 |
| Brain malformations with or without urinary tract defects | 3 | Oct 30, 2017 |
| Brain pseudoatrophy, reversible, valproate-induced, susceptibility to | 1 | Nov 2, 2016 |
| Brain small vessel disease 1 with or without ocular anomalies | 16 | Mar 21, 2019 |
| Brain small vessel disease 3 | 4 | Aug 15, 2019 |
| Brain tumor-polyposis syndrome 2 | 2 | Apr 4, 2013 |
| Brain-lung-thyroid syndrome | 5 | Feb 2, 2022 |
| Branched-chain keto acid dehydrogenase kinase deficiency | 4 | Jan 23, 2024 |
| Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | 6 | Jan 4, 2023 |
| Branchiooculofacial syndrome | 7 | Nov 2, 2018 |
| Branchiootic syndrome 1 | 4 | Sep 19, 2019 |
| Branchiootic syndrome 3 | 3 | Dec 5, 2014 |
| Branchiootorenal syndrome 1 | 10 | Sep 19, 2019 |
| Branchiootorenal syndrome 2 | 4 | Sep 13, 2016 |
| Branchiootorenal syndrome with cataract | 1 | Dec 5, 2014 |
| Breast adenocarcinoma | 11 | Mar 9, 2022 |
| Breast cancer, early-onset | 2 | Apr 19, 2019 |
| Breast cancer, invasive, susceptibility to | 1 | Nov 19, 2014 |
| Breast cancer, post-chemotherapy poor survival in | 1 | Oct 2, 2012 |
| Breast cancer, susceptibility to | 14 | Jul 9, 2019 |
| Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | 1 | Nov 5, 2012 |
| Breast ductal adenocarcinoma | 1 | Dec 16, 2009 |
| Breast lobular carcinoma | 1 | Sep 21, 2017 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 41 | Oct 6, 2021 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 14 | Jan 14, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 7 | Aug 21, 2019 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 6 | Aug 21, 2019 |
| Breasts and/or nipples, aplasia or hypoplasia of, 2 | 1 | Sep 10, 2014 |
| British HPFH | 1 | Dec 11, 2017 |
| Brittle cornea syndrome 1 | 4 | Nov 28, 2012 |
| Brittle cornea syndrome 2 | 6 | Jun 4, 2018 |
| Brody myopathy | 10 | Jan 26, 2022 |
| Bronchiectasis with or without elevated sweat chloride 1 | 7 | Sep 12, 2018 |
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | 2 | Aug 6, 2021 |
| Bronchiectasis with or without elevated sweat chloride 2 | 3 | Sep 17, 2018 |
| Bronchiectasis with or without elevated sweat chloride 3 | 2 | Sep 12, 2018 |
| Brooke-Spiegler syndrome | 5 | Aug 21, 2017 |
| Brown oculocutaneous albinism | 1 | Feb 13, 2018 |
| Brown-Vialetto-van Laere syndrome 1 | 9 | Apr 8, 2021 |
| Brown-Vialetto-van Laere syndrome 2 | 7 | Sep 23, 2020 |
| Bruck syndrome 1 | 8 | Apr 19, 2017 |
| Bruck syndrome 2 | 4 | Aug 28, 2015 |
| Brugada syndrome 1 | 16 | Sep 1, 2020 |
| Brugada syndrome 2 | 4 | Jun 4, 2015 |
| Brugada syndrome 3 | 2 | Aug 5, 2016 |
| Brugada syndrome 4 | 2 | Sep 30, 2014 |
| Brugada syndrome 5 | 1 | Sep 29, 2016 |
| Brugada syndrome 6 | 1 | Sep 19, 2018 |
| Brugada syndrome 7 | 1 | Apr 26, 2017 |
| Brugada syndrome 8 | 2 | Jan 12, 2017 |
| Brugada syndrome 9 | 3 | Apr 12, 2017 |
| Brunet-Wagner neurodevelopmental syndrome | 4 | Jan 19, 2022 |
| Brunner syndrome | 4 | Apr 30, 2018 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 7 | Feb 1, 2022 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 5 | Feb 2, 2022 |
| Budd-Chiari syndrome, susceptibility to | 1 | Feb 12, 2019 |
| Budd-Chiari syndrome, susceptibility to, somatic | 1 | Jan 12, 2022 |
| Buratti-Harel syndrome | 5 | May 13, 2021 |
| Burkitt lymphoma | 4 | Feb 14, 2019 |
| Buruli ulcer, susceptibility to | 1 | Jan 30, 2017 |
| Butyrylcholinesterase activity | 1 | Apr 24, 2018 |
| Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type | 1 | Apr 24, 2018 |
| C syndrome | 2 | Aug 22, 2011 |
| C1Q deficiency | 5 | Sep 28, 2017 |
| C1Q deficiency 2 | 2 | Sep 28, 2017 |
| C1Q deficiency 3 | 2 | Oct 18, 2017 |
| C2 deficiency, type I | 1 | Jun 7, 2012 |
| C2 deficiency, type II | 2 | Jun 7, 2012 |
| C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE | 1 | Jul 6, 2012 |
| C3 deficiency | 3 | Aug 12, 2020 |
| C3 glomerulonephritis | 2 | Mar 30, 2021 |
| C3HEX, ability to smell | 2 | Oct 24, 2016 |
| C3S/C3F POLYMORPHISM | 1 | Aug 12, 2020 |
| C6 A/B POLYMORPHISM | 1 | Mar 23, 2011 |
| C6 deficiency, subtotal | 1 | Mar 23, 2011 |
| C7 and C6 deficiency, combined subtotal | 1 | Feb 11, 2020 |
| CARASIL syndrome | 7 | Jun 14, 2017 |
| CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM | 1 | Jun 18, 2019 |
| CARBONIC ANHYDRASE II VARIANT | 3 | Aug 3, 2016 |
| CARNEY COMPLEX, TYPE I | 1 | Feb 29, 2024 |
| CARNITINE PALMITOYLTRANSFERASE IA POLYMORPHISM | 1 | May 27, 2020 |
| CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY | 3 | May 20, 2021 |
| CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM | 1 | Feb 21, 2014 |
| CBL-related disorder | 4 | Apr 28, 2017 |
| CCDC115-CDG | 2 | Jun 21, 2019 |
| CCR5 POLYMORPHISM, AFRICAN-AMERICAN | 1 | Mar 28, 2013 |
| CCR5 POLYMORPHISM, ORIENTAL 1 | 1 | Mar 28, 2013 |
| CCR5 POLYMORPHISM, ORIENTAL 2 | 1 | Oct 10, 2016 |
| CCR5 PROMOTER POLYMORPHISM | 1 | Mar 28, 2013 |
| CEBALID syndrome | 7 | Feb 14, 2020 |
| CEDNIK syndrome | 5 | May 23, 2022 |
| CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT | 1 | Dec 4, 2017 |
| CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | 4 | Jan 17, 2020 |
| CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC | 3 | Oct 5, 2021 |
| CERULOPLASMIN BELFAST | 1 | Apr 7, 2011 |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF (1 family) | 1 | Dec 7, 2015 |
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS | 2 | Mar 9, 2018 |
| CHARGE syndrome | 15 | Jun 26, 2017 |
| CHIME syndrome | 4 | Oct 5, 2016 |
| CHOLECYSTOKININ A RECEPTOR POLYMORPHISM | 2 | Jun 23, 2006 |
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 | 3 | Sep 27, 2024 |
| CIDEC-related familial partial lipodystrophy | 1 | May 21, 2013 |
| CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS | 1 | Oct 29, 2019 |
| CILIARY NEUROTROPHIC FACTOR POLYMORPHISM | 1 | Aug 17, 2012 |
| CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 | 1 | Dec 20, 2012 |
| CK syndrome | 2 | May 4, 2012 |
| CLAPO syndrome | 5 | Oct 5, 2021 |
| CLOVES syndrome | 4 | Oct 5, 2021 |
| COACH syndrome 1 | 6 | Aug 9, 2016 |
| COACH syndrome 2 | 4 | Dec 3, 2020 |
| COACH syndrome 3 | 2 | Dec 1, 2020 |
| CODAS syndrome | 4 | Feb 28, 2019 |
| CODON 72 POLYMORPHISM | 1 | Nov 26, 2019 |
| COG1 congenital disorder of glycosylation | 2 | Mar 26, 2017 |
| COG4-congenital disorder of glycosylation | 4 | Jun 29, 2015 |
| COG5-congenital disorder of glycosylation | 11 | Jul 9, 2020 |
| COG6-congenital disorder of glycosylation | 5 | Mar 5, 2018 |
| COG7 congenital disorder of glycosylation | 2 | Mar 26, 2017 |
| COG8-congenital disorder of glycosylation | 4 | Jul 7, 2020 |
| COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA | 2 | Mar 29, 2019 |
| COL6A5 POLYMORPHISM | 1 | May 27, 2020 |
| COLLAGEN TYPE III POLYMORPHISM | 1 | Jun 20, 2012 |
| COLTON BLOOD GROUP POLYMORPHISM | 1 | Jul 22, 2011 |
| COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM | 1 | Mar 23, 2011 |
| CONE-ROD DYSTROPHY, AIPL1-RELATED | 1 | Mar 14, 2013 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD | 1 | Nov 13, 2024 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | 1 | Mar 26, 2017 |
| CONGENITAL MYOPATHY 25 | 4 | Sep 26, 2024 |
| CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC | 1 | Aug 11, 2023 |
| CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC | 5 | Aug 11, 2023 |
| CPT1A ARCTIC VARIANT | 1 | May 27, 2020 |
| CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | 3 | Apr 19, 2017 |
| CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE | 1 | Sep 1, 2017 |
| CYBA POLYMORPHISM | 1 | May 31, 2018 |
| CYP2A6*12A | 1 | Sep 6, 2017 |
| CYP2A6*3 | 1 | Sep 6, 2017 |
| CYP2A6*4A | 1 | Sep 6, 2017 |
| CYP2A6, V2 | 1 | Sep 6, 2017 |
| CYP2C8 HAPLOTYPE POLYMORPHISM | 1 | Jun 20, 2018 |
| CYP2C8 POLYMORPHISM | 2 | Jun 20, 2018 |
| CYP2E1*5B ALLELE | 1 | Dec 20, 2012 |
| CYP2E1*6 ALLELE | 1 | Dec 20, 2012 |
| CYP3A4 PROMOTER POLYMORPHISM | 1 | Aug 30, 2013 |
| CYSTATHIONINE BETA-SYNTHETASE POLYMORPHISM | 1 | Jul 18, 2017 |
| Ca/Tu ALLOANTIGEN POLYMORPHISM | 1 | Dec 30, 2010 |
| Café-au-lait macules with pulmonary stenosis | 3 | Mar 4, 2020 |
| Calcitonin polymorphism | 1 | Sep 25, 2012 |
| Calcium oxalate urolithiasis | 2 | Jul 20, 2016 |
| Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | 2 | Jun 27, 2019 |
| Calvarial doughnut lesions-bone fragility syndrome | 1 | Jun 27, 2019 |
| Campomelic dysplasia with autosomal sex reversal | 7 | Aug 3, 2016 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 6 | Jan 11, 2019 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 2 | Jul 20, 2016 |
| Camptomelic dysplasia | 6 | Aug 3, 2016 |
| Camptosynpolydactyly, complex | 1 | Jan 11, 2022 |
| Cancer progression and tumor cell motility | 1 | Aug 8, 2018 |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | 1 | Oct 19, 2021 |
| Candidiasis, familial, 6 | 1 | Jun 22, 2015 |
| Candidiasis, familial, 8 | 1 | Mar 10, 2015 |
| Candidiasis, familial, 9 | 3 | Jul 6, 2015 |
| Capillary infantile hemangioma | 4 | Sep 24, 2018 |
| Capillary malformation | 1 | Dec 23, 2019 |
| Capillary malformation-arteriovenous malformation 1 | 5 | Nov 26, 2018 |
| Capillary malformation-arteriovenous malformation 2 | 10 | Nov 27, 2018 |
| Carbamazepine hypersensitivity | 1 | Jul 1, 2014 |
| Carbonic anhydrase I deficiency | 1 | Dec 1, 2009 |
| Carbonic anhydrase I, Guam | 1 | Dec 1, 2009 |
| Carcinoid tumor of intestine | 1 | Jul 24, 2019 |
| Carcinoma of colon | 42 | Mar 17, 2022 |
| Carcinoma of pancreas | 13 | Mar 9, 2022 |
| Carcinoma, adrenocortical, androgen-secreting | 1 | Apr 29, 2013 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 5 | Jul 21, 2021 |
| Cardiac arrhythmia, ankyrin-B-related | 4 | Sep 2, 2016 |
| Cardiac conduction defect, nonprogressive | 1 | Nov 9, 2016 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 6 | Mar 31, 2022 |
| Cardiac valvular defect, developmental | 3 | May 16, 2017 |
| Cardiac valvular dysplasia 2 | 4 | Sep 30, 2022 |
| Cardiac valvular dysplasia, X-linked | 6 | Jul 17, 2019 |
| Cardiac, facial, and digital anomalies with developmental delay | 4 | Oct 31, 2018 |
| Cardiac-urogenital syndrome | 5 | Mar 5, 2019 |
| Cardioacrofacial dysplasia 1 | 1 | Dec 28, 2020 |
| Cardioacrofacial dysplasia 2 | 4 | Dec 28, 2020 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 8 | Oct 23, 2020 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 4 | Oct 23, 2020 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 1 | Oct 23, 2020 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 3 | Jun 24, 2021 |
| Cardiofaciocutaneous syndrome 1 | 11 | Sep 12, 2018 |
| Cardiofaciocutaneous syndrome 2 | 7 | Jul 23, 2019 |
| Cardiofaciocutaneous syndrome 3 | 5 | Apr 21, 2020 |
| Cardiofaciocutaneous syndrome 4 | 5 | Sep 16, 2016 |
| Cardiofacioneurodevelopmental syndrome | 3 | Jun 1, 2022 |
| Cardiomyopathy and Deafness | 1 | Oct 10, 2016 |
| Cardiomyopathy, apical hypertrophic, and neuropathy | 1 | Nov 2, 2016 |
| Cardiomyopathy, dilated, 100 | 1 | Feb 15, 2023 |
| Cardiomyopathy, dilated, 1LL | 3 | Dec 2, 2016 |
| Cardiomyopathy, dilated, 1MM | 4 | Jul 29, 2019 |
| Cardiomyopathy, dilated, 2D | 7 | Jun 6, 2021 |
| Cardiomyopathy, dilated, 2E | 2 | Aug 18, 2021 |
| Cardiomyopathy, dilated, 2F | 3 | Feb 10, 2022 |
| Cardiomyopathy, dilated, 2G | 4 | May 26, 2022 |
| Cardiomyopathy, dilated, 2H | 2 | Mar 8, 2023 |
| Cardiomyopathy, dilated, 2I | 3 | Aug 3, 2023 |
| Cardiomyopathy, dilated, 2K | 5 | Jul 15, 2024 |
| Cardiomyopathy, dilated, 2c | 3 | Nov 15, 2018 |
| Cardiomyopathy, dilated, 2j | 4 | Nov 28, 2023 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 6 | Nov 22, 2016 |
| Cardiomyopathy, familial hypertrophic 27 | 4 | Jul 12, 2018 |
| Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | 5 | Apr 25, 2017 |
| Cardiomyopathy, familial hypertrophic, 28 | 3 | Jun 25, 2021 |
| Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | 2 | Feb 8, 2023 |
| Cardiomyopathy, familial hypertrophic, 30, atrial | 1 | Feb 28, 2024 |
| Cardiomyopathy, familial hypertrophic, 4, susceptibility to | 1 | May 16, 2013 |
| Cardiomyopathy, familial restrictive, 1 | 6 | Sep 6, 2016 |
| Cardiomyopathy, familial restrictive, 3 | 2 | Nov 3, 2010 |
| Cardiomyopathy, familial restrictive, 4 | 1 | Nov 4, 2016 |
| Cardiomyopathy, familial restrictive, 5 | 3 | Jun 26, 2023 |
| Cardiomyopathy, familial restrictive, 6 | 2 | Jul 14, 2021 |
| Cardiomyopathy, fatal | 1 | Apr 23, 2012 |
| Cardiomyopathy, fatal infantile | 1 | Apr 23, 2012 |
| Cardiomyopathy, hypertrophic, midventricular, digenic | 3 | Nov 7, 2016 |
| Cardiomyopathy, hypertrophic, mitochondrial | 1 | Oct 27, 2011 |
| Cardiomyopathy, idiopathic dilated, mitochondrial | 1 | Oct 27, 2011 |
| Cardiomyopathy, infantile hypertrophic | 1 | Nov 2, 2016 |
| Cardiomyopathy, mitochondrial | 1 | Sep 14, 2001 |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 4 | Sep 8, 2020 |
| Cardiospondylocarpofacial syndrome | 5 | Feb 4, 2022 |
| Carey-Fineman-Ziter syndrome 2 | 1 | Jul 1, 2022 |
| Carney complex - trismus - pseudocamptodactyly syndrome | 1 | May 22, 2019 |
| Carney complex, type 1 | 8 | Apr 29, 2019 |
| Carney-Stratakis syndrome | 4 | Nov 5, 2021 |
| Carnitine acylcarnitine translocase deficiency | 9 | Aug 6, 2019 |
| Carnitine palmitoyl transferase 1A deficiency | 11 | Aug 12, 2016 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 10 | Mar 15, 2018 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 5 | Dec 29, 2016 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 6 | Mar 15, 2018 |
| Carpal tunnel syndrome 1 | 1 | Dec 3, 2012 |
| Carpal tunnel syndrome 2 | 2 | Jan 19, 2021 |
| Carpenter syndrome | 1 | Apr 15, 2017 |
| Cataract 1 multiple types | 8 | Dec 11, 2013 |
| Cataract 10 multiple types | 2 | Aug 26, 2019 |
| Cataract 11 multiple types | 1 | Jan 26, 2017 |
| Cataract 11, posterior polar | 2 | Jan 26, 2017 |
| Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities | 1 | Jan 26, 2017 |
| Cataract 12 multiple types | 2 | May 28, 2013 |
| Cataract 13 with adult I phenotype | 3 | May 6, 2015 |
| Cataract 14 multiple types | 9 | Aug 9, 2016 |
| Cataract 15 multiple types | 3 | Jun 12, 2013 |
| Cataract 16 multiple types | 4 | Sep 15, 2016 |
| Cataract 17 multiple types | 4 | Jun 5, 2017 |
| Cataract 18 | 6 | Jun 13, 2013 |
| Cataract 19 multiple types | 3 | Jul 5, 2023 |
| Cataract 2, Coppock-like | 1 | Apr 26, 2013 |
| Cataract 2, multiple types | 5 | Dec 2, 2016 |
| Cataract 20 multiple types | 3 | Jan 31, 2019 |
| Cataract 21 multiple types | 4 | Aug 6, 2018 |
| Cataract 22 multiple types | 2 | Aug 8, 2014 |
| Cataract 23 | 3 | Oct 20, 2017 |
| Cataract 3 multiple types | 2 | May 2, 2017 |
| Cataract 30 | 3 | Apr 30, 2021 |
| Cataract 31 multiple types | 2 | Jul 22, 2013 |
| Cataract 33 | 3 | May 9, 2017 |
| Cataract 34 multiple types | 2 | Jan 6, 2018 |
| Cataract 36 | 2 | May 11, 2017 |
| Cataract 38 | 1 | Oct 5, 2016 |
| Cataract 39 multiple types | 2 | Aug 5, 2019 |
| Cataract 4 multiple types | 7 | Aug 5, 2019 |
| Cataract 40 | 2 | Dec 4, 2020 |
| Cataract 41 | 1 | Sep 4, 2020 |
| Cataract 43 | 1 | Feb 15, 2021 |
| Cataract 44 | 4 | Feb 10, 2022 |
| Cataract 45 | 1 | Jan 27, 2017 |
| Cataract 46 juvenile-onset | 1 | Feb 13, 2020 |
| Cataract 48 | 3 | May 6, 2019 |
| Cataract 49 | 1 | Oct 27, 2021 |
| Cataract 5 multiple types | 4 | May 6, 2013 |
| Cataract 50 with or without glaucoma | 1 | Feb 20, 2023 |
| Cataract 6 multiple types | 4 | May 7, 2013 |
| Cataract 6, age-related cortical | 1 | May 7, 2013 |
| Cataract 9 multiple types | 6 | Sep 15, 2016 |
| Cataract 9, autosomal recessive | 1 | Sep 15, 2016 |
| Cataract 9, multiple types, with microcornea | 3 | Sep 3, 2021 |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 6 | Jul 31, 2019 |
| Cataracts, congenital, with late-onset corneal dystrophy | 1 | Jun 16, 2015 |
| Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | 1 | Jun 23, 2023 |
| Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | 1 | Jun 23, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 10 | Jan 13, 2022 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 3 | Aug 4, 2016 |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 3 | Feb 28, 2020 |
| Catecholaminergic polymorphic ventricular tachycardia 4 | 2 | Oct 6, 2016 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 7 | Sep 16, 2021 |
| Catel-Manzke syndrome | 6 | Jan 14, 2015 |
| Catifa syndrome | 1 | Feb 6, 2020 |
| Caudal duplication | 1 | Feb 17, 2017 |
| Caudal regression sequence | 1 | Aug 23, 2011 |
| Cavernous malformations of CNS and retina | 1 | Jan 20, 2012 |
| Cayman type cerebellar ataxia | 2 | Nov 3, 2021 |
| Celiac disease, susceptibility to, 3 | 2 | Sep 5, 2020 |
| Celiac disease, susceptibility to, 4 | 1 | Jan 5, 2009 |
| Cenani-Lenz syndactyly syndrome | 8 | Jan 17, 2018 |
| Central centrifugal cicatricial alopecia | 1 | May 26, 2022 |
| Central core myopathy | 12 | Feb 27, 2023 |
| Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | 1 | Aug 26, 2021 |
| Central hypoventilation syndrome, congenital, 3 | 1 | Sep 21, 2021 |
| Central hypoventilation syndrome, late-onset | 1 | Aug 26, 2021 |
| Central precocious puberty 1 | 1 | Aug 11, 2016 |
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 7 | Nov 4, 2024 |
| Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | 5 | Oct 21, 2021 |
| Cerebellar ataxia, cataract, and diabetes mellitus | 1 | Feb 18, 2009 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 11 | Aug 29, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 2 | Aug 24, 2017 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 5 | Aug 5, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 5 | Nov 13, 2023 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Jan 9, 2019 |
| Cerebellar ataxia-hypogonadism syndrome | 6 | Jun 26, 2015 |
| Cerebellar atrophy with seizures and variable developmental delay | 5 | Jul 22, 2019 |
| Cerebellar atrophy, developmental delay, and seizures | 2 | Sep 26, 2019 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 3 | Mar 29, 2016 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 9 | Feb 24, 2022 |
| Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | 1 | Feb 22, 2022 |
| Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | 5 | Jun 24, 2021 |
| Cerebellar, ocular, craniofacial, and genital syndrome | 5 | Jun 18, 2019 |
| Cerebellar-facial-dental syndrome | 4 | Jan 23, 2015 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 13 | Oct 4, 2021 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 4 | Sep 21, 2016 |
| Cerebral arteriovenous malformation | 2 | Mar 6, 2018 |
| Cerebral cavernous malformation 1 | 9 | Mar 21, 2019 |
| Cerebral cavernous malformation 2 | 15 | Aug 4, 2023 |
| Cerebral cavernous malformation 3 | 6 | Mar 10, 2021 |
| Cerebral folate transport deficiency | 4 | Dec 15, 2020 |
| Cerebral infarction, susceptibility to | 1 | Sep 17, 2012 |
| Cerebral palsy, spastic quadriplegic, 2 | 1 | Nov 27, 2017 |
| Cerebral palsy, spastic quadriplegic, 3 | 3 | Feb 15, 2024 |
| Cerebro-costo-mandibular syndrome | 5 | Apr 13, 2017 |
| Cerebrooculofacioskeletal syndrome 1 | 5 | Dec 8, 2016 |
| Cerebrooculofacioskeletal syndrome 2 | 2 | Apr 25, 2017 |
| Cerebrooculofacioskeletal syndrome 3 | 2 | Mar 19, 2020 |
| Cerebrooculofacioskeletal syndrome 4 | 2 | Feb 9, 2015 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 13 | Sep 9, 2020 |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 2 | Feb 10, 2017 |
| Cerebroretinal microangiopathy with calcifications and cysts 3 | 1 | May 10, 2023 |
| Cernunnos-XLF deficiency | 8 | Aug 8, 2024 |
| Ceroid lipofuscinosis, neuronal, 3, protracted | 3 | Mar 20, 2020 |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 3 | Sep 2, 2022 |
| Ceroid lipofuscinosis, neuronal, 6A | 13 | Dec 1, 2021 |
| Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 5 | Dec 1, 2021 |
| Cervical cancer | 2 | Jul 20, 2016 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 5 | Sep 26, 2016 |
| Char syndrome | 7 | Oct 17, 2016 |
| Charcot-Marie-Tooth Disease, axonal, type 2GG | 4 | Oct 15, 2021 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 22 | Jun 22, 2017 |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 1 | Aug 21, 2013 |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 4 | Dec 10, 2019 |
| Charcot-Marie-Tooth disease X-linked recessive 5 | 6 | Sep 23, 2016 |
| Charcot-Marie-Tooth disease axonal type 2C | 8 | Sep 7, 2021 |
| Charcot-Marie-Tooth disease axonal type 2CC | 2 | Jun 24, 2016 |
| Charcot-Marie-Tooth disease axonal type 2F | 3 | Dec 16, 2011 |
| Charcot-Marie-Tooth disease axonal type 2K | 11 | Oct 18, 2016 |
| Charcot-Marie-Tooth disease axonal type 2L | 1 | Jan 24, 2013 |
| Charcot-Marie-Tooth disease axonal type 2N | 4 | Jan 5, 2022 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Apr 16, 2018 |
| Charcot-Marie-Tooth disease axonal type 2P | 4 | Nov 9, 2016 |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 | Jan 7, 2022 |
| Charcot-Marie-Tooth disease axonal type 2S | 6 | Oct 10, 2016 |
| Charcot-Marie-Tooth disease axonal type 2T | 8 | Oct 6, 2016 |
| Charcot-Marie-Tooth disease axonal type 2U | 2 | Aug 20, 2019 |
| Charcot-Marie-Tooth disease axonal type 2V | 1 | Jul 29, 2015 |
| Charcot-Marie-Tooth disease axonal type 2X | 5 | May 17, 2019 |
| Charcot-Marie-Tooth disease axonal type 2Z | 3 | Jan 11, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | Aug 25, 2020 |
| Charcot-Marie-Tooth disease dominant intermediate C | 4 | Feb 3, 2022 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Mar 7, 2018 |
| Charcot-Marie-Tooth disease dominant intermediate E | 6 | Mar 11, 2015 |
| Charcot-Marie-Tooth disease dominant intermediate F | 2 | Mar 7, 2018 |
| Charcot-Marie-Tooth disease recessive intermediate A | 5 | Oct 18, 2016 |
| Charcot-Marie-Tooth disease recessive intermediate B | 2 | Aug 20, 2019 |
| Charcot-Marie-Tooth disease recessive intermediate C | 4 | Apr 17, 2018 |
| Charcot-Marie-Tooth disease recessive intermediate D | 1 | May 25, 2016 |
| Charcot-Marie-Tooth disease type 1B | 18 | Nov 27, 2018 |
| Charcot-Marie-Tooth disease type 1C | 5 | Jun 8, 2020 |
| Charcot-Marie-Tooth disease type 1D | 2 | Sep 10, 2024 |
| Charcot-Marie-Tooth disease type 1E | 3 | Apr 27, 2015 |
| Charcot-Marie-Tooth disease type 1F | 4 | Mar 6, 2018 |
| Charcot-Marie-Tooth disease type 2A1 | 2 | Mar 25, 2021 |
| Charcot-Marie-Tooth disease type 2A2 | 14 | Sep 16, 2016 |
| Charcot-Marie-Tooth disease type 2B | 4 | Sep 7, 2016 |
| Charcot-Marie-Tooth disease type 2B1 | 1 | Mar 11, 2022 |
| Charcot-Marie-Tooth disease type 2B2 | 3 | May 8, 2020 |
| Charcot-Marie-Tooth disease type 2D | 5 | Nov 16, 2020 |
| Charcot-Marie-Tooth disease type 2E | 6 | Mar 6, 2018 |
| Charcot-Marie-Tooth disease type 2I | 4 | Mar 9, 2018 |
| Charcot-Marie-Tooth disease type 2J | 4 | Mar 9, 2018 |
| Charcot-Marie-Tooth disease type 2R | 3 | Sep 26, 2019 |
| Charcot-Marie-Tooth disease type 2Y | 2 | Sep 14, 2016 |
| Charcot-Marie-Tooth disease type 4A | 3 | Oct 18, 2016 |
| Charcot-Marie-Tooth disease type 4B1 | 5 | Aug 15, 2017 |
| Charcot-Marie-Tooth disease type 4B2 | 5 | Oct 16, 2009 |
| Charcot-Marie-Tooth disease type 4B3 | 3 | Sep 27, 2016 |
| Charcot-Marie-Tooth disease type 4C | 8 | Aug 12, 2020 |
| Charcot-Marie-Tooth disease type 4D | 3 | May 29, 2014 |
| Charcot-Marie-Tooth disease type 4E | 1 | Nov 27, 2018 |
| Charcot-Marie-Tooth disease type 4F | 6 | Jul 10, 2015 |
| Charcot-Marie-Tooth disease type 4G | 1 | Apr 27, 2017 |
| Charcot-Marie-Tooth disease type 4H | 7 | Mar 3, 2021 |
| Charcot-Marie-Tooth disease type 4J | 8 | Oct 5, 2016 |
| Charcot-Marie-Tooth disease type 4K | 3 | Oct 23, 2020 |
| Charcot-Marie-Tooth disease, axonal, IIa 2II | 6 | Oct 7, 2022 |
| Charcot-Marie-Tooth disease, axonal, Type 2HH | 2 | Oct 21, 2021 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 7 | Jun 1, 2023 |
| Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 | 1 | Jan 12, 2021 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 3 | Apr 29, 2019 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 | Sep 16, 2021 |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 1 | Oct 18, 2016 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1H | 5 | Mar 2, 2022 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 4 | Feb 14, 2022 |
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 3 | Jan 16, 2019 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 3 | Nov 3, 2022 |
| Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia | 2 | Aug 25, 2020 |
| Charcot-Marie-Tooth disease, dominant intermediate G | 2 | Jan 7, 2022 |
| Charcot-Marie-Tooth disease, type 1a, autosomal recessive | 1 | Apr 21, 2015 |
| Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | 1 | Sep 15, 2016 |
| Charcot-Marie-Tooth disease, type IA | 6 | May 15, 2019 |
| Charcot-marie-tooth disease, axonal, type 2DD | 5 | Jun 28, 2018 |
| Charlevoix-Saguenay spastic ataxia | 11 | Aug 18, 2015 |
| Chediak-Higashi syndrome, adult type | 3 | Jun 7, 2012 |
| Chediak-Higashi syndrome, childhood type | 7 | Jun 7, 2012 |
| Chilblain lupus | 2 | Oct 18, 2017 |
| Chilblain lupus 2 | 1 | Sep 6, 2018 |
| Child syndrome | 6 | May 4, 2012 |
| Childhood apraxia of speech | 2 | Jun 15, 2020 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 8 | Jul 13, 2022 |
| Childhood hypophosphatasia | 8 | Apr 14, 2015 |
| Childhood onset GLUT1 deficiency syndrome 2 | 9 | Mar 25, 2017 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Aug 31, 2018 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 5 | Apr 27, 2022 |
| Chitayat syndrome | 1 | Feb 21, 2017 |
| Chitotriosidase deficiency | 4 | May 23, 2016 |
| Chloramphenicol resistance | 2 | May 26, 1993 |
| Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 8 | Aug 3, 2022 |
| Cholestanol storage disease | 13 | Apr 8, 2010 |
| Cholestasis, intrahepatic, of pregnancy, 1 | 2 | Oct 29, 2016 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 7 | Oct 18, 2017 |
| Cholestasis, progressive familial intrahepatic, 10 | 11 | May 20, 2022 |
| Cholestasis, progressive familial intrahepatic, 11 | 1 | May 10, 2022 |
| Cholestasis, progressive familial intrahepatic, 12 | 2 | Aug 18, 2022 |
| Cholestasis, progressive familial intrahepatic, 4 | 7 | Mar 30, 2021 |
| Cholestasis, progressive familial intrahepatic, 5 | 3 | Jul 27, 2016 |
| Cholestasis, progressive familial intrahepatic, 6 | 1 | Aug 13, 2021 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 7 | Dec 15, 2021 |
| Cholestasis, progressive familial intrahepatic, 8 | 4 | Dec 16, 2021 |
| Cholestasis, progressive familial intrahepatic, 9 | 6 | Apr 27, 2022 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 3 | Dec 16, 2021 |
| Cholesteryl ester storage disease | 4 | May 26, 2021 |
| Chondrocalcinosis 2 | 5 | Sep 12, 2019 |
| Chondrocalcinosis 2, sporadic | 1 | Sep 12, 2019 |
| Chondrodysplasia Blomstrand type | 5 | Jul 1, 2021 |
| Chondrodysplasia punctata 2 X-linked dominant | 10 | Sep 20, 2018 |
| Chondrodysplasia punctata 2, X-linked dominant, atypical | 1 | Sep 20, 2018 |
| Chondrodysplasia with joint dislocations, gPAPP type | 4 | Jan 20, 2015 |
| Chondrodysplasia-pseudohermaphroditism syndrome | 2 | Dec 3, 2020 |
| Chondrosarcoma | 2 | Jul 24, 2020 |
| Chopra-Amiel-Gordon syndrome | 5 | Sep 13, 2021 |
| Chorea, childhood-onset, with psychomotor retardation | 1 | Aug 9, 2016 |
| Chorea-acanthocytosis | 10 | Dec 18, 2019 |
| Choroid plexus carcinoma | 1 | Nov 6, 2018 |
| Choroid plexus papilloma | 1 | Apr 9, 2013 |
| Choroidal dystrophy, central areolar 2 | 4 | Jun 30, 2020 |
| Choroidal dystrophy, central areolar, 1 | 1 | Sep 3, 2019 |
| Choroideremia | 9 | Jun 12, 2017 |
| Choroideremia, Salla type | 1 | Jun 12, 2017 |
| Christianson syndrome | 7 | Aug 20, 2021 |
| Chromophobe renal cell carcinoma | 3 | Feb 9, 2021 |
| Chromosome 2q32-q33 deletion syndrome | 7 | Aug 18, 2023 |
| Chromosome 2q37 deletion syndrome | 2 | Oct 11, 2018 |
| Chronic atrial and intestinal dysrhythmia | 1 | Jan 23, 2015 |
| Chronic granuloma and hemolytic anemia | 1 | May 24, 2017 |
| Chronic infantile neurological, cutaneous and articular syndrome | 3 | Oct 15, 2018 |
| Chronic myelogenous leukemia, BCR-ABL1 positive | 2 | Aug 2, 2019 |
| Chronic recurrent multifocal osteomyelitis 3 | 1 | Aug 2, 2023 |
| Chudley-McCullough syndrome | 6 | Aug 13, 2015 |
| Chuvash polycythemia | 12 | Feb 9, 2021 |
| Chylomicron retention disease | 8 | Jun 11, 2018 |
| Ciliary dyskinesia, primary, 36, X-linked | 2 | Feb 8, 2017 |
| Ciliary dyskinesia, primary, 37 | 2 | Jun 2, 2023 |
| Ciliary dyskinesia, primary, 38 | 5 | Jul 31, 2018 |
| Ciliary dyskinesia, primary, 39 | 4 | Dec 21, 2018 |
| Ciliary dyskinesia, primary, 40 | 8 | Jan 29, 2020 |
| Ciliary dyskinesia, primary, 41 | 1 | May 28, 2019 |
| Ciliary dyskinesia, primary, 42 | 4 | Dec 13, 2019 |
| Ciliary dyskinesia, primary, 43 | 4 | Dec 13, 2019 |
| Ciliary dyskinesia, primary, 44 | 4 | Feb 24, 2020 |
| Ciliary dyskinesia, primary, 45 | 4 | Mar 5, 2020 |
| Ciliary dyskinesia, primary, 46 | 1 | Jul 14, 2021 |
| Ciliary dyskinesia, primary, 47, and lissencephaly | 5 | Aug 6, 2021 |
| Ciliary dyskinesia, primary, 48, without situs inversus | 2 | Sep 15, 2022 |
| Ciliary dyskinesia, primary, 49, without situs inversus | 7 | Jan 12, 2023 |
| Ciliary dyskinesia, primary, 50 | 6 | Apr 28, 2023 |
| Ciliary dyskinesia, primary, 51 | 2 | Jun 27, 2023 |
| Ciliary dyskinesia, primary, 52 | 5 | Nov 7, 2023 |
| Ciliary dyskinesia, primary, 53 | 3 | Dec 1, 2023 |
| Ciliopathy | 2 | Oct 8, 2021 |
| Cirrhosis, cryptogenic | 3 | Aug 6, 2003 |
| Cirrhosis, noncryptogenic, susceptibility to | 1 | Jun 27, 2003 |
| Citrullinemia type I | 17 | Oct 17, 2016 |
| Citrullinemia type II | 7 | Nov 10, 2016 |
| Citrullinemia, mild | 2 | Oct 17, 2016 |
| Clark-Baraitser syndrome | 7 | Apr 15, 2020 |
| Classic Hodgkin lymphoma | 1 | Sep 8, 2010 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 27 | Nov 7, 2018 |
| Classic dopamine transporter deficiency syndrome | 6 | Jul 9, 2018 |
| Classical galactosemia, homozygous Duarte-type | 1 | Mar 19, 2019 |
| Clear cell carcinoma of kidney | 4 | Sep 4, 2020 |
| Cleft lip/palate-ectodermal dysplasia syndrome | 4 | Jul 19, 2022 |
| Cleft palate with ankyloglossia | 9 | Mar 26, 2020 |
| Cleft palate with or without ankyloglossia, X-linked | 1 | Mar 26, 2020 |
| Cleft palate, proliferative retinopathy, and developmental delay | 1 | Oct 28, 2020 |
| Cleidocranial dysostosis | 12 | Nov 8, 2019 |
| Cleidocranial dysplasia 1, forme fruste, dental anomalies only | 1 | Oct 24, 2022 |
| Cleidocranial dysplasia 1, forme fruste, with brachydactyly | 1 | Nov 8, 2019 |
| Cleidocranial dysplasia 2 | 5 | Oct 24, 2022 |
| Clopidogrel response | 1 | May 14, 2018 |
| Clubfoot | 2 | Dec 3, 2018 |
| Cobalamin C disease | 10 | Nov 19, 2021 |
| Cobblestone lissencephaly without muscular or ocular involvement | 4 | Oct 14, 2021 |
| Cockayne syndrome type 1 | 5 | Jan 27, 2022 |
| Cockayne syndrome type 2 | 8 | Apr 20, 2018 |
| Cocoon syndrome | 1 | Jun 16, 2021 |
| Codeine response | 1 | Jun 7, 2012 |
| Coenzyme Q10 deficiency, primary, 1 | 5 | Aug 10, 2016 |
| Coenzyme Q10 deficiency, primary, 3 | 2 | Mar 27, 2015 |
| Coenzyme q10 deficiency, primary, 9 | 1 | Jan 25, 2021 |
| Coffin-Lowry syndrome | 19 | Aug 20, 2021 |
| Coffin-Siris syndrome 1 | 12 | May 9, 2019 |
| Coffin-Siris syndrome 10 | 6 | Feb 2, 2023 |
| Coffin-Siris syndrome 11 | 5 | Feb 19, 2020 |
| Coffin-Siris syndrome 12 | 5 | May 20, 2021 |
| Coffin-Siris syndrome 5 | 2 | Apr 11, 2017 |
| Coffin-Siris syndrome 6 | 7 | Dec 14, 2017 |
| Coffin-Siris syndrome 7 | 5 | Jun 28, 2018 |
| Coffin-Siris syndrome 8 | 5 | Apr 5, 2019 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 3 | Sep 1, 2021 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Mar 29, 2019 |
| Cohen syndrome | 16 | Dec 20, 2019 |
| Cohen-Gibson syndrome | 4 | Jul 17, 2017 |
| Colchicine resistance | 1 | Apr 4, 2013 |
| Cold-induced sweating syndrome 1 | 9 | May 1, 2018 |
| Cold-induced sweating syndrome 2 | 4 | May 1, 2018 |
| Cole-Carpenter syndrome 1 | 1 | Apr 6, 2015 |
| Cole-Carpenter syndrome 2 | 10 | Jul 27, 2019 |
| Coloboma of optic nerve | 1 | Sep 26, 2016 |
| Coloboma, ocular, autosomal dominant | 10 | Mar 1, 2024 |
| Coloboma, ocular, autosomal recessive | 1 | Aug 18, 2014 |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 4 | Aug 15, 2017 |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 5 | Sep 9, 2019 |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 3 | Oct 18, 2016 |
| Colon adenocarcinoma | 1 | Dec 16, 2009 |
| Colon cancer, advanced | 1 | Jun 23, 2014 |
| Colon cancer, susceptibility to | 1 | Jan 4, 2011 |
| Colorectal cancer with chromosomal instability, somatic | 2 | Sep 13, 2019 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 30 | Nov 15, 2022 |
| Colorectal cancer, hereditary nonpolyposis, type 6 | 3 | Aug 4, 2016 |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 7 | Aug 16, 2019 |
| Colorectal cancer, protection against | 1 | Aug 7, 2017 |
| Colorectal cancer, sporadic, susceptibility to | 1 | Apr 20, 2018 |
| Colorectal cancer, susceptibility to | 2 | Nov 4, 2019 |
| Colorectal cancer, susceptibility to, 1 | 3 | Apr 20, 2011 |
| Colorectal cancer, susceptibility to, 10 | 3 | Feb 17, 2017 |
| Colorectal cancer, susceptibility to, 12 | 1 | Sep 9, 2015 |
| Colorectal cancer, susceptibility to, 3 | 1 | Aug 17, 2017 |
| Colostrum secretion | 1 | Feb 28, 2011 |
| Colton-null phenotype | 1 | Feb 5, 2018 |
| Combined PSAP deficiency | 3 | Oct 26, 2021 |
| Combined deficiency of sialidase AND beta galactosidase | 5 | Jun 25, 2021 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 9 | Aug 12, 2020 |
| Combined immunodeficiency due to CD3gamma deficiency | 3 | Feb 26, 2015 |
| Combined immunodeficiency due to DOCK8 deficiency | 11 | Oct 18, 2022 |
| Combined immunodeficiency due to GINS1 deficiency | 4 | Jan 10, 2018 |
| Combined immunodeficiency due to LRBA deficiency | 6 | May 9, 2017 |
| Combined immunodeficiency due to MALT1 deficiency | 2 | Apr 18, 2020 |
| Combined immunodeficiency due to ORAI1 deficiency | 4 | Oct 20, 2016 |
| Combined immunodeficiency due to OX40 deficiency | 1 | Jun 3, 2016 |
| Combined immunodeficiency due to STIM1 deficiency | 5 | Feb 2, 2017 |
| Combined immunodeficiency due to STK4 deficiency | 3 | Aug 20, 2018 |
| Combined immunodeficiency due to ZAP70 deficiency | 4 | Mar 14, 2019 |
| Combined immunodeficiency due to moesin deficiency | 2 | Dec 20, 2016 |
| Combined immunodeficiency due to partial RAG1 deficiency | 4 | May 4, 2021 |
| Combined immunodeficiency with faciooculoskeletal anomalies | 2 | Apr 22, 2021 |
| Combined immunodeficiency with skin granulomas | 8 | May 4, 2021 |
| Combined immunodeficiency, X-linked | 2 | Dec 16, 2011 |
| Combined low LDL and fibrinogen | 1 | May 16, 2023 |
| Combined malonic and methylmalonic acidemia | 10 | Jul 20, 2023 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 4 | Dec 10, 2020 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 5 | Jul 29, 2021 |
| Combined oxidative phosphorylation defect type 11 | 6 | Dec 21, 2016 |
| Combined oxidative phosphorylation defect type 13 | 12 | Aug 11, 2022 |
| Combined oxidative phosphorylation defect type 14 | 6 | Dec 21, 2023 |
| Combined oxidative phosphorylation defect type 15 | 8 | Dec 13, 2018 |
| Combined oxidative phosphorylation defect type 17 | 4 | Jun 24, 2021 |
| Combined oxidative phosphorylation defect type 2 | 1 | Feb 8, 2018 |
| Combined oxidative phosphorylation defect type 20 | 10 | Jul 13, 2020 |
| Combined oxidative phosphorylation defect type 21 | 12 | Apr 1, 2024 |
| Combined oxidative phosphorylation defect type 23 | 6 | Mar 11, 2022 |
| Combined oxidative phosphorylation defect type 24 | 11 | May 28, 2019 |
| Combined oxidative phosphorylation defect type 25 | 2 | Jun 23, 2015 |
| Combined oxidative phosphorylation defect type 26 | 4 | Jun 1, 2022 |
| Combined oxidative phosphorylation defect type 27 | 5 | Mar 17, 2022 |
| Combined oxidative phosphorylation defect type 30 | 2 | Sep 10, 2019 |
| Combined oxidative phosphorylation defect type 4 | 3 | Dec 5, 2016 |
| Combined oxidative phosphorylation defect type 7 | 2 | Jul 19, 2017 |
| Combined oxidative phosphorylation defect type 8 | 3 | Jul 1, 2015 |
| Combined oxidative phosphorylation defect type 9 | 2 | Aug 26, 2019 |
| Combined oxidative phosphorylation deficiency 19 | 1 | Apr 12, 2017 |
| Combined oxidative phosphorylation deficiency 22 | 1 | Jul 17, 2020 |
| Combined oxidative phosphorylation deficiency 28 | 4 | Nov 20, 2020 |
| Combined oxidative phosphorylation deficiency 29 | 1 | Feb 19, 2016 |
| Combined oxidative phosphorylation deficiency 32 | 4 | Sep 16, 2017 |
| Combined oxidative phosphorylation deficiency 33 | 6 | Aug 16, 2018 |
| Combined oxidative phosphorylation deficiency 34 | 1 | Feb 12, 2018 |
| Combined oxidative phosphorylation deficiency 35 | 12 | Feb 5, 2024 |
| Combined oxidative phosphorylation deficiency 36 | 3 | May 3, 2018 |
| Combined oxidative phosphorylation deficiency 37 | 3 | Feb 22, 2019 |
| Combined oxidative phosphorylation deficiency 38 | 1 | Apr 8, 2019 |
| Combined oxidative phosphorylation deficiency 39 | 6 | Apr 19, 2019 |
| Combined oxidative phosphorylation deficiency 40 | 5 | Apr 11, 2020 |
| Combined oxidative phosphorylation deficiency 41 | 2 | Apr 10, 2020 |
| Combined oxidative phosphorylation deficiency 42 | 1 | Apr 11, 2020 |
| Combined oxidative phosphorylation deficiency 43 | 2 | Apr 12, 2022 |
| Combined oxidative phosphorylation deficiency 44 | 6 | May 1, 2020 |
| Combined oxidative phosphorylation deficiency 45 | 1 | Jul 28, 2020 |
| Combined oxidative phosphorylation deficiency 46 | 1 | Jul 29, 2020 |
| Combined oxidative phosphorylation deficiency 47 | 2 | Jul 28, 2020 |
| Combined oxidative phosphorylation deficiency 48 | 4 | Sep 17, 2020 |
| Combined oxidative phosphorylation deficiency 49 | 1 | Sep 23, 2020 |
| Combined oxidative phosphorylation deficiency 50 | 1 | Sep 23, 2020 |
| Combined oxidative phosphorylation deficiency 51 | 6 | Dec 14, 2023 |
| Combined oxidative phosphorylation deficiency 52 | 1 | Jun 16, 2021 |
| Combined oxidative phosphorylation deficiency 53 | 7 | Jul 9, 2021 |
| Combined oxidative phosphorylation deficiency 54 | 7 | Mar 11, 2024 |
| Combined oxidative phosphorylation deficiency 55 | 11 | Feb 21, 2022 |
| Combined oxidative phosphorylation deficiency 56 | 6 | Nov 27, 2022 |
| Combined oxidative phosphorylation deficiency 57 | 3 | Jan 6, 2023 |
| Combined oxidative phosphorylation deficiency 59 | 4 | Dec 4, 2023 |
| Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor | 1 | Dec 19, 2012 |
| Complement component 4a deficiency | 1 | Apr 13, 2012 |
| Complement component 5 deficiency | 4 | Sep 15, 2016 |
| Complement component 6 deficiency | 5 | Apr 30, 2022 |
| Complement component 7 deficiency | 10 | Feb 11, 2020 |
| Complement component 9 deficiency | 6 | May 21, 2015 |
| Complement component C1s deficiency | 2 | Oct 13, 2016 |
| Complement factor b deficiency | 2 | Jun 28, 2021 |
| Complex cortical dysplasia with other brain malformations 1 | 5 | Sep 22, 2016 |
| Complex cortical dysplasia with other brain malformations 2 | 2 | Aug 29, 2017 |
| Complex cortical dysplasia with other brain malformations 3 | 2 | Aug 29, 2017 |
| Complex cortical dysplasia with other brain malformations 4 | 3 | Jun 29, 2018 |
| Complex cortical dysplasia with other brain malformations 5 | 3 | Sep 23, 2021 |
| Complex cortical dysplasia with other brain malformations 6 | 3 | Jan 5, 2018 |
| Complex cortical dysplasia with other brain malformations 7 | 8 | Jun 21, 2016 |
| Complex lethal osteochondrodysplasia | 2 | Apr 11, 2018 |
| Compton-North congenital myopathy | 2 | Apr 11, 2024 |
| Conduction system disorder | 3 | Jan 12, 2017 |
| Cone dystrophy 1, X-linked | 1 | Jan 13, 2023 |
| Cone dystrophy 3 | 3 | Dec 15, 2017 |
| Cone dystrophy 4 | 1 | Mar 15, 2019 |
| Cone dystrophy 5, X-linked | 1 | Dec 10, 2010 |
| Cone dystrophy with supernormal rod response | 12 | May 11, 2018 |
| Cone monochromatism | 4 | Jan 14, 2015 |
| Cone-rod dystrophy 10 | 2 | May 5, 2015 |
| Cone-rod dystrophy 11 | 3 | Nov 1, 2016 |
| Cone-rod dystrophy 12 | 3 | Jun 30, 2020 |
| Cone-rod dystrophy 13 | 2 | May 21, 2015 |
| Cone-rod dystrophy 14 | 3 | Apr 12, 2016 |
| Cone-rod dystrophy 15 | 3 | Mar 30, 2023 |
| Cone-rod dystrophy 16 | 3 | Sep 25, 2019 |
| Cone-rod dystrophy 18 | 4 | Jul 7, 2015 |
| Cone-rod dystrophy 19 | 5 | Mar 16, 2020 |
| Cone-rod dystrophy 2 | 6 | Oct 17, 2016 |
| Cone-rod dystrophy 20 | 3 | Sep 16, 2019 |
| Cone-rod dystrophy 21 | 5 | Jul 31, 2015 |
| Cone-rod dystrophy 22 | 2 | Sep 21, 2021 |
| Cone-rod dystrophy 23 | 2 | Feb 16, 2023 |
| Cone-rod dystrophy 24 | 2 | Apr 21, 2023 |
| Cone-rod dystrophy 3 | 14 | Jun 30, 2020 |
| Cone-rod dystrophy 5 | 1 | Jul 21, 2008 |
| Cone-rod dystrophy 6 | 5 | Apr 4, 2018 |
| Cone-rod dystrophy 7 | 1 | Jun 7, 2012 |
| Cone-rod dystrophy 9 | 5 | Apr 22, 2015 |
| Cone-rod dystrophy and hearing loss 1 | 13 | Oct 30, 2024 |
| Cone-rod dystrophy and hearing loss 2 | 8 | Sep 9, 2024 |
| Cone-rod synaptic disorder syndrome, congenital nonprogressive | 5 | Jul 29, 2020 |
| Cone-rod synaptic disorder, congenital nonprogressive | 4 | May 22, 2015 |
| Congenital absence of salivary gland | 5 | May 24, 2019 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 6 | Jul 17, 2017 |
| Congenital adrenal hypoplasia, X-linked | 29 | Aug 10, 2016 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 9 | Jul 22, 2015 |
| Congenital afibrinogenemia | 12 | Mar 29, 2018 |
| Congenital amegakaryocytic thrombocytopenia 1 | 8 | Aug 21, 2020 |
| Congenital anomalies of kidney and urinary tract 1 | 6 | Jan 9, 2019 |
| Congenital anomalies of kidney and urinary tract 2 | 3 | Mar 26, 2020 |
| Congenital anomalies of kidney and urinary tract 3 | 1 | Jan 9, 2019 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 7 | Apr 26, 2018 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 4 | Aug 6, 2021 |
| Congenital bile acid synthesis defect 1 | 5 | Feb 1, 2018 |
| Congenital bile acid synthesis defect 2 | 5 | Apr 10, 2015 |
| Congenital bile acid synthesis defect 3 | 2 | Mar 9, 2021 |
| Congenital bile acid synthesis defect 4 | 2 | Jan 24, 2017 |
| Congenital bile acid synthesis defect 5 | 1 | Oct 27, 2015 |
| Congenital bile acid synthesis defect 6 | 3 | Nov 15, 2023 |
| Congenital brain dysgenesis due to glutamine synthetase deficiency | 3 | Nov 16, 2018 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 | Feb 16, 2017 |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 5 | Mar 11, 2021 |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 | Feb 5, 2008 |
| Congenital central hypoventilation | 12 | Aug 26, 2021 |
| Congenital cerebellar hypoplasia | 4 | Jan 23, 2020 |
| Congenital contractural arachnodactyly | 9 | Feb 19, 2014 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 6 | Jul 31, 2022 |
| Congenital defect of folate absorption | 10 | Jun 15, 2015 |
| Congenital diarrhea 5 with tufting enteropathy | 7 | Dec 18, 2017 |
| Congenital diarrhea 6 | 1 | May 25, 2012 |
| Congenital diarrhea 7 with exudative enteropathy | 7 | Nov 30, 2022 |
| Congenital disorder of deglycosylation | 8 | Mar 3, 2022 |
| Congenital disorder of deglycosylation 2 | 5 | Mar 31, 2022 |
| Congenital disorder of glycosylation type 1E | 7 | Apr 4, 2017 |
| Congenital disorder of glycosylation type Ir | 3 | May 19, 2022 |
| Congenital disorder of glycosylation with defective fucosylation 1 | 4 | Feb 20, 2019 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 3 | Feb 22, 2019 |
| Congenital disorder of glycosylation, type 2v | 9 | Sep 11, 2021 |
| Congenital disorder of glycosylation, type IAA | 1 | Oct 20, 2021 |
| Congenital disorder of glycosylation, type ICC | 2 | Sep 9, 2019 |
| Congenital disorder of glycosylation, type IIbb | 2 | Oct 19, 2023 |
| Congenital disorder of glycosylation, type IIq | 2 | Mar 26, 2017 |
| Congenital disorder of glycosylation, type IIr | 2 | Apr 21, 2020 |
| Congenital disorder of glycosylation, type IIw | 1 | Sep 10, 2021 |
| Congenital disorder of glycosylation, type IIy | 2 | Mar 8, 2023 |
| Congenital disorder of glycosylation, type IIz | 1 | Jan 23, 2023 |
| Congenital disorder of glycosylation, type Ibb | 2 | Jan 24, 2018 |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 7 | Jan 20, 2022 |
| Congenital disorder of glycosylation, type iit | 5 | May 21, 2020 |
| Congenital dyserythropoietic anemia type 4 | 1 | Feb 11, 2014 |
| Congenital dyserythropoietic anemia type type 1B | 2 | Jun 27, 2019 |
| Congenital dyserythropoietic anemia, type I | 7 | Feb 11, 2014 |
| Congenital dyserythropoietic anemia, type II | 6 | Jul 11, 2018 |
| Congenital dyserythropoietic anemia, type III | 2 | Mar 16, 2022 |
| Congenital fibrosis of extraocular muscles type 1 | 6 | Aug 10, 2012 |
| Congenital generalized lipodystrophy type 1 | 12 | Jun 27, 2023 |
| Congenital generalized lipodystrophy type 2 | 14 | Dec 17, 2020 |
| Congenital generalized lipodystrophy type 3 | 2 | Feb 14, 2023 |
| Congenital generalized lipodystrophy type 4 | 9 | Jun 27, 2023 |
| Congenital glucose-galactose malabsorption | 3 | Jul 19, 2021 |
| Congenital heart defects and ectodermal dysplasia | 2 | Feb 24, 2017 |
| Congenital heart defects and skeletal malformations syndrome | 5 | Nov 11, 2021 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 6 | Feb 2, 2018 |
| Congenital heart defects, multiple types, 1, X-linked | 2 | Feb 13, 2020 |
| Congenital heart defects, multiple types, 2 | 5 | Apr 2, 2021 |
| Congenital heart defects, multiple types, 4 | 7 | Jun 2, 2020 |
| Congenital heart defects, multiple types, 5 | 4 | Mar 16, 2018 |
| Congenital heart defects, multiple types, 6 | 1 | Apr 18, 2018 |
| Congenital heart defects, multiple types, 7 | 5 | Jun 25, 2020 |
| Congenital heart defects, multiple types, 8, with or without heterotaxy | 5 | Dec 10, 2021 |
| Congenital heart defects, multiple types, 9 | 5 | Mar 22, 2023 |
| Congenital hereditary endothelial dystrophy of cornea | 8 | Dec 29, 2016 |
| Congenital hyperammonemia, type I | 11 | Oct 19, 2018 |
| Congenital hypomyelinating neuropathy 1, autosomal dominant | 1 | Nov 27, 2018 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 5 | Jul 15, 2019 |
| Congenital hypotrichosis with juvenile macular dystrophy | 2 | Nov 21, 2017 |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 2 | May 25, 2018 |
| Congenital insensitivity to pain-hypohidrosis syndrome | 5 | Nov 7, 2019 |
| Congenital isolated adrenocorticotropic hormone deficiency | 5 | Mar 8, 2018 |
| Congenital lactase deficiency | 3 | Oct 15, 2008 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 7 | Oct 23, 2020 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 14 | Jul 24, 2012 |
| Congenital malabsorptive diarrhea 4 | 2 | Jul 31, 2012 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 8 | May 26, 2020 |
| Congenital microvillous atrophy | 17 | Jun 3, 2022 |
| Congenital multicore myopathy with external ophthalmoplegia | 14 | Oct 11, 2021 |
| Congenital muscular dystrophy due to LMNA mutation | 5 | Mar 11, 2022 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 3 | May 21, 2015 |
| Congenital muscular dystrophy due to partial LAMA2 deficiency | 5 | Oct 8, 2018 |
| Congenital muscular dystrophy with cataracts and intellectual disability | 9 | Oct 13, 2022 |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy | 4 | Apr 29, 2021 |
| Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 1 | Aug 10, 2016 |
| Congenital muscular hypertrophy-cerebral syndrome | 6 | Apr 14, 2020 |
| Congenital myasthenic syndrome 10 | 11 | Mar 17, 2023 |
| Congenital myasthenic syndrome 11 | 13 | Apr 12, 2019 |
| Congenital myasthenic syndrome 12 | 8 | May 17, 2019 |
| Congenital myasthenic syndrome 13 | 5 | Apr 12, 2017 |
| Congenital myasthenic syndrome 14 | 2 | Feb 16, 2017 |
| Congenital myasthenic syndrome 15 | 2 | Oct 5, 2020 |
| Congenital myasthenic syndrome 16 | 4 | May 9, 2023 |
| Congenital myasthenic syndrome 17 | 2 | Jan 17, 2018 |
| Congenital myasthenic syndrome 18 | 1 | Aug 4, 2020 |
| Congenital myasthenic syndrome 19 | 5 | Jul 28, 2021 |
| Congenital myasthenic syndrome 1A | 7 | Feb 16, 2017 |
| Congenital myasthenic syndrome 20 | 5 | Oct 7, 2016 |
| Congenital myasthenic syndrome 21 | 2 | Dec 6, 2016 |
| Congenital myasthenic syndrome 2A | 2 | Apr 24, 2015 |
| Congenital myasthenic syndrome 2C | 2 | Mar 1, 2017 |
| Congenital myasthenic syndrome 3A | 1 | Mar 1, 2017 |
| Congenital myasthenic syndrome 3B | 5 | Mar 1, 2017 |
| Congenital myasthenic syndrome 3C | 2 | Mar 1, 2017 |
| Congenital myasthenic syndrome 4A | 5 | Nov 7, 2018 |
| Congenital myasthenic syndrome 4B | 5 | Aug 5, 2016 |
| Congenital myasthenic syndrome 4C | 12 | Aug 5, 2016 |
| Congenital myasthenic syndrome 5 | 10 | Apr 27, 2015 |
| Congenital myasthenic syndrome 7 | 5 | Aug 6, 2021 |
| Congenital myasthenic syndrome 8 | 3 | Oct 27, 2020 |
| Congenital myasthenic syndrome 9 | 5 | Apr 11, 2019 |
| Congenital myopathy 10b, mild variant | 8 | Mar 10, 2023 |
| Congenital myopathy 11 | 5 | Jul 26, 2022 |
| Congenital myopathy 15 | 2 | Dec 22, 2022 |
| Congenital myopathy 18 | 11 | Mar 10, 2023 |
| Congenital myopathy 20 | 4 | Apr 7, 2023 |
| Congenital myopathy 21 with early respiratory failure | 4 | Apr 18, 2023 |
| Congenital myopathy 22A, classic | 6 | May 9, 2023 |
| Congenital myopathy 22B, severe fetal | 3 | May 9, 2023 |
| Congenital myopathy 23 | 7 | Feb 28, 2017 |
| Congenital myopathy 2b, severe infantile, autosomal recessive | 7 | Mar 10, 2023 |
| Congenital myopathy 2c, severe infantile, autosomal dominant | 10 | Mar 10, 2023 |
| Congenital myopathy 4A, autosomal dominant | 9 | Mar 6, 2023 |
| Congenital myopathy 4B, autosomal recessive | 4 | Jun 2, 2016 |
| Congenital myopathy with internal nuclei and atypical cores | 1 | Aug 29, 2017 |
| Congenital myopathy with reduced type 2 muscle fibers | 2 | May 8, 2019 |
| Congenital myotonia, autosomal dominant form | 9 | May 27, 2022 |
| Congenital myotonia, autosomal recessive form | 14 | Jun 21, 2019 |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 2 | Mar 13, 2018 |
| Congenital nongoitrous hypothyroidism 6 | 5 | Sep 6, 2016 |
| Congenital nonprogressive myopathy with Moebius and Robin sequences | 5 | Jan 7, 2019 |
| Congenital ocular coloboma | 1 | Dec 7, 2016 |
| Congenital plasminogen activator inhibitor type 1 deficiency | 2 | Aug 24, 2016 |
| Congenital primary aphakia | 3 | Jan 6, 2018 |
| Congenital prothrombin deficiency | 11 | May 31, 2018 |
| Congenital reticular ichthyosiform erythroderma | 7 | Sep 8, 2021 |
| Congenital secretory diarrhea, chloride type | 9 | Jul 23, 2021 |
| Congenital secretory sodium diarrhea 3 | 7 | Jun 27, 2019 |
| Congenital secretory sodium diarrhea 8 | 8 | Nov 18, 2020 |
| Congenital sensory neuropathy with selective loss of small myelinated fibers | 2 | Jul 15, 2021 |
| Congenital short bowel syndrome | 1 | Mar 10, 2022 |
| Congenital short bowel syndrome, X-linked | 1 | Nov 7, 2018 |
| Congenital short bowel syndrome, autosomal recessive | 4 | Mar 10, 2022 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 6 | Jul 13, 2015 |
| Congenital stationary night blindness 1A | 6 | May 10, 2010 |
| Congenital stationary night blindness 1B | 8 | Jun 17, 2015 |
| Congenital stationary night blindness 1C | 10 | Apr 29, 2015 |
| Congenital stationary night blindness 1D | 5 | Feb 13, 2018 |
| Congenital stationary night blindness 1E | 7 | Jun 29, 2015 |
| Congenital stationary night blindness 1F | 4 | May 13, 2019 |
| Congenital stationary night blindness 1G | 2 | Feb 7, 2018 |
| Congenital stationary night blindness 1H | 3 | Aug 12, 2016 |
| Congenital stationary night blindness 2A | 5 | Jul 20, 2015 |
| Congenital stationary night blindness autosomal dominant 1 | 3 | Oct 2, 2012 |
| Congenital stationary night blindness autosomal dominant 2 | 1 | Oct 4, 2012 |
| Congenital stationary night blindness autosomal dominant 3 | 2 | Oct 7, 2016 |
| Congenital stationary night blindness, type 2A, severe | 1 | Nov 16, 2010 |
| Congenital stromal corneal dystrophy | 4 | May 11, 2018 |
| Congenital vertical talus | 1 | Apr 10, 2014 |
| Conotruncal anomaly face syndrome | 2 | Nov 7, 2019 |
| Conotruncal heart malformations | 1 | Jun 6, 2014 |
| Constitutional megaloblastic anemia with severe neurologic disease | 2 | Aug 4, 2016 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 7 | Feb 27, 2020 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 4 | Feb 27, 2020 |
| Coproporphyria | 10 | May 22, 2020 |
| Coproporphyria, digenic | 1 | May 22, 2020 |
| Cornea plana 2 | 6 | Apr 21, 2016 |
| Corneal dystrophy, Fuchs endothelial, 1 | 3 | Dec 14, 2017 |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 | Oct 31, 2019 |
| Corneal dystrophy, Fuchs endothelial, 4 | 4 | Dec 29, 2016 |
| Corneal dystrophy, Fuchs endothelial, 6 | 3 | Jan 23, 2023 |
| Corneal dystrophy, Fuchs endothelial, 8 | 2 | Nov 13, 2013 |
| Corneal dystrophy, Meesmann, 1 | 8 | Feb 4, 2020 |
| Corneal dystrophy, Meesmann, 2 | 3 | Feb 4, 2020 |
| Corneal dystrophy, lattice type 3A | 2 | Feb 7, 2020 |
| Corneal dystrophy, posterior polymorphous, 4 | 2 | Jan 12, 2022 |
| Corneal dystrophy, punctiform and polychromatic pre-descemet | 1 | May 16, 2022 |
| Corneal dystrophy-perceptive deafness syndrome | 8 | Dec 29, 2016 |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 4 | Mar 13, 2020 |
| Cornelia de Lange syndrome 1 | 13 | Oct 22, 2020 |
| Cornelia de Lange syndrome 3 | 9 | Apr 13, 2020 |
| Cornelia de Lange syndrome 4 | 11 | Aug 2, 2021 |
| Cornelia de Lange syndrome 5 | 6 | Jun 21, 2018 |
| Cornelia de Lange syndrome 6 | 4 | Dec 15, 2023 |
| Coronary artery disease, autosomal dominant 2 | 4 | Feb 14, 2022 |
| Coronary artery disease, autosomal dominant, 1 | 1 | Oct 18, 2010 |
| Coronary artery disease, development of, in HIV | 1 | Jun 22, 2017 |
| Coronary artery disease, modifier of | 1 | Jun 22, 2017 |
| Coronary artery disease, resistance to | 1 | Sep 5, 2014 |
| Coronary artery disease, severe, susceptibility to | 1 | Jan 10, 2018 |
| Coronary artery disease, susceptibility to | 3 | May 27, 2015 |
| Coronary artery disease/myocardial infarction | 3 | Oct 9, 2017 |
| Coronary artery spasm 1, susceptibility to | 2 | Mar 12, 2015 |
| Coronary artery spasm 2, susceptibility to | 1 | Sep 14, 2012 |
| Coronary artery spasm 3, susceptibility to | 1 | Feb 21, 2014 |
| Coronary heart disease, susceptibility to, 5 | 1 | Nov 27, 2019 |
| Coronary heart disease, susceptibility to, 6 | 1 | Nov 27, 2019 |
| Coronary heart disease, susceptibility to, 7 | 1 | Apr 4, 2013 |
| Corpus callosum agenesis-abnormal genitalia syndrome | 1 | Aug 23, 2016 |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | 1 | Aug 21, 2021 |
| Cortical dysplasia, complex, with other brain malformations 10 | 4 | Nov 26, 2019 |
| Cortical dysplasia, complex, with other brain malformations 11 | 6 | Dec 8, 2022 |
| Cortical dysplasia, complex, with other brain malformations 12 | 5 | Apr 7, 2023 |
| Cortical dysplasia, complex, with other brain malformations 9 | 3 | Nov 5, 2018 |
| Cortical dysplasia-focal epilepsy syndrome | 10 | Dec 23, 2021 |
| Corticosteroid-binding globulin deficiency | 3 | Jun 1, 2011 |
| Corticosterone 18-monooxygenase deficiency | 5 | Sep 18, 2013 |
| Corticosterone methyloxidase type 2 deficiency | 4 | Apr 29, 2009 |
| Cortisone reductase deficiency 1 | 6 | Mar 25, 2016 |
| Cortisone reductase deficiency 2 | 3 | Mar 30, 2021 |
| Costello syndrome | 13 | Apr 27, 2017 |
| Costello syndrome, severe | 1 | Aug 3, 2020 |
| Cowden syndrome | 2 | Jul 11, 2018 |
| Cowden syndrome 1 | 26 | Jun 28, 2018 |
| Cowden syndrome 3 | 2 | Jul 24, 2019 |
| Cowden syndrome 4 | 1 | Oct 10, 2014 |
| Cowden syndrome 5 | 7 | Apr 13, 2017 |
| Cowden syndrome 6 | 2 | Oct 10, 2014 |
| Cowden syndrome 7 | 2 | Sep 23, 2019 |
| Coxopodopatellar syndrome | 10 | Aug 4, 2020 |
| Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | 3 | Aug 16, 2023 |
| Craniodiaphyseal dysplasia, autosomal dominant | 2 | Jan 17, 2018 |
| Cranioectodermal dysplasia 1 | 10 | Dec 22, 2021 |
| Cranioectodermal dysplasia 2 | 9 | Mar 30, 2018 |
| Cranioectodermal dysplasia 3 | 1 | Aug 9, 2019 |
| Cranioectodermal dysplasia 4 | 5 | Apr 27, 2023 |
| Craniofacial anomalies and anterior segment dysgenesis syndrome | 1 | Aug 24, 2019 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 3 | Jan 29, 2021 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | 1 | Jul 20, 2022 |
| Craniofacial dysplasia - osteopenia syndrome | 3 | Jul 7, 2022 |
| Craniofacial microsomia 1 | 4 | Feb 26, 2022 |
| Craniofacial microsomia 2 | 4 | Jul 13, 2023 |
| Craniofacial-deafness-hand syndrome | 1 | Mar 15, 2013 |
| Craniofacial-skeletal-dermatologic dysplasia | 1 | Apr 1, 2013 |
| Craniofrontonasal syndrome | 12 | Sep 19, 2016 |
| Craniolenticulosutural dysplasia | 3 | May 4, 2022 |
| Craniometadiaphyseal osteosclerosis with hip dysplasia | 3 | Oct 26, 2023 |
| Craniometaphyseal dysplasia, autosomal dominant | 7 | Sep 12, 2019 |
| Craniometaphyseal dysplasia, autosomal recessive | 1 | Jul 10, 2015 |
| Cranioosteoarthropathy | 1 | Jul 23, 2020 |
| Craniosynostosis 2 | 2 | May 11, 2017 |
| Craniosynostosis 4 | 7 | Nov 1, 2016 |
| Craniosynostosis 5, susceptibility to | 2 | Jan 2, 2018 |
| Craniosynostosis 6 | 1 | Jan 15, 2020 |
| Craniosynostosis 7 | 1 | Feb 15, 2021 |
| Craniosynostosis and dental anomalies | 5 | Aug 31, 2011 |
| Craniosynostosis, nonclassifiable autosomal dominant | 1 | Apr 1, 2013 |
| Craniosynostosis, nonsyndromic unicoronal | 1 | Sep 6, 2016 |
| Craniosynostosis-anal anomalies-porokeratosis syndrome | 5 | Jan 24, 2023 |
| Craniotubular dysplasia, Ikegawa type | 2 | Jan 27, 2022 |
| Creatine transporter deficiency | 10 | Jan 6, 2020 |
| Crigler-Najjar syndrome type 1 | 12 | Dec 11, 2017 |
| Crigler-Najjar syndrome, type II | 8 | Jan 3, 2018 |
| Crohn disease-associated growth failure, susceptibility to | 1 | Jan 8, 2021 |
| Cromer blood group system | 2 | Aug 30, 2017 |
| Crouzon syndrome | 17 | Aug 9, 2018 |
| Crouzon syndrome-acanthosis nigricans syndrome | 1 | Oct 20, 2017 |
| Cryohydrocytosis | 3 | Aug 27, 2020 |
| Cryptorchidism | 6 | Aug 14, 2015 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 3 | Jul 26, 2019 |
| Curly hair, ankyloblepharon, nail dysplasia syndrome | 2 | May 26, 2021 |
| Currarino triad | 10 | Jun 19, 2018 |
| Curry-Hall syndrome | 4 | Apr 10, 2017 |
| Curry-Jones syndrome | 1 | Oct 11, 2019 |
| Cutaneous mastocytosis | 4 | Jun 6, 2019 |
| Cutaneous porphyria | 21 | May 29, 2019 |
| Cutis laxa with osteodystrophy | 4 | Apr 28, 2017 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 8 | Nov 8, 2017 |
| Cutis laxa, X-linked | 6 | Nov 3, 2020 |
| Cutis laxa, autosomal dominant 1 | 7 | Jan 10, 2020 |
| Cutis laxa, autosomal dominant 2 | 1 | Sep 26, 2019 |
| Cutis laxa, autosomal dominant 3 | 3 | Oct 19, 2015 |
| Cutis laxa, autosomal recessive, type 1A | 3 | Feb 28, 2017 |
| Cutis laxa, autosomal recessive, type 1B | 10 | Feb 22, 2022 |
| Cutis laxa, autosomal recessive, type 1d | 4 | Apr 5, 2024 |
| Cutis laxa, autosomal recessive, type 2E | 4 | Feb 14, 2022 |
| Cyanosis, transient neonatal | 5 | Aug 18, 2020 |
| Cyclical neutropenia | 5 | Sep 2, 2016 |
| Cyclical vomiting syndrome | 1 | Sep 11, 2017 |
| Cyp3a4-v | 1 | Aug 30, 2013 |
| Cystathioninuria | 4 | Oct 19, 2016 |
| Cystic disease of lung | 5 | Mar 12, 2024 |
| Cystic fibrosis | 2 | Feb 13, 2013 |
| Cystic fibrosis | 132 | Aug 6, 2021 |
| Cystic leukoencephalopathy without megalencephaly | 6 | May 15, 2015 |
| Cystic parathyroid adenoma | 1 | Nov 28, 2012 |
| Cystinosis, atypical nephropathic | 3 | Aug 23, 2017 |
| Cystinuria | 24 | Mar 2, 2017 |
| Cytochrome c oxidase I deficiency | 2 | Sep 17, 2018 |
| Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | 4 | Mar 29, 2019 |
| D,L-2-hydroxyglutaric aciduria | 6 | Nov 29, 2018 |
| D-2-hydroxyglutaric aciduria 1 | 7 | Nov 19, 2021 |
| D-2-hydroxyglutaric aciduria 2 | 2 | Aug 20, 2018 |
| D-Glyceric aciduria | 3 | Jan 4, 2018 |
| DDX41-related hematologic malignancy predisposition syndrome | 6 | Oct 4, 2016 |
| DE SANCTIS-CACCHIONE SYNDROME | 1 | Oct 20, 2016 |
| DEGCAGS syndrome | 5 | Aug 18, 2021 |
| DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT | 7 | Jul 12, 2018 |
| DEJERINE-SOTTAS SYNDROME, SPORADIC | 1 | Mar 9, 2018 |
| DELTA-ZERO-THALASSEMIA | 1 | Dec 12, 2017 |
| DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES | 2 | May 22, 2023 |
| DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES | 3 | Jul 21, 2022 |
| DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS | 4 | May 20, 2022 |
| DIEGO BLOOD GROUP ANTIGEN | 1 | Aug 4, 2016 |
| DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME | 16 | Jun 26, 2024 |
| DK1-congenital disorder of glycosylation | 6 | Mar 27, 2017 |
| DNA ligase IV deficiency | 5 | Jul 16, 2014 |
| DNA topoisomerase I, camptothecin-resistant | 2 | Aug 15, 2011 |
| DOCK2 deficiency | 5 | Sep 16, 2016 |
| DOORS syndrome | 5 | Apr 4, 2019 |
| DOPAMINE RECEPTOR D4 POLYMORPHISM | 1 | Feb 20, 2017 |
| DPAGT1-congenital disorder of glycosylation | 6 | Apr 12, 2017 |
| DPM3-congenital disorder of glycosylation | 2 | Oct 9, 2018 |
| DRUG METABOLISM, ALTERED, CES1-RELATED | 2 | Jul 24, 2018 |
| DRUG METABOLISM, ALTERED, CYP2C8-RELATED | 1 | Jun 20, 2018 |
| DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE | 2 | Dec 11, 2017 |
| DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE | 1 | Dec 11, 2017 |
| DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM | 1 | Aug 10, 2015 |
| DYRK1A-related intellectual disability syndrome | 5 | Apr 1, 2022 |
| DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II | 1 | Jun 20, 2012 |
| DYSTONIA 1, TORSION, MODIFIER OF | 1 | Nov 11, 2020 |
| Dalmatian hypouricemia | 6 | Oct 23, 2015 |
| Danon disease | 13 | May 26, 2022 |
| Darier disease, acral hemorrhagic type | 2 | Nov 15, 2012 |
| Darier disease, segmental | 2 | Nov 15, 2012 |
| De la Chapelle dysplasia | 1 | Mar 22, 2019 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 6 | Jan 12, 2016 |
| Deafness dystonia syndrome | 9 | Dec 17, 2019 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 9 | Dec 13, 2021 |
| Deafness, X-linked 5 | 5 | Sep 19, 2016 |
| Deafness, Y-linked 2 | 1 | Apr 16, 2019 |
| Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 | 2 | Oct 7, 2016 |
| Deafness, autosomal dominant, with peripheral neuropathy | 1 | Jul 2, 2015 |
| Deafness, autosomal recessive 12, modifier of | 1 | Dec 2, 2016 |
| Deafness, autosomal recessive 26, modifier of | 1 | Oct 1, 2021 |
| Deafness, autosomal recessive 36, without vestibular involvement | 1 | Aug 26, 2019 |
| Deafness, cataract, impaired intellectual development, and polyneuropathy | 1 | Jun 1, 2021 |
| Deafness, congenital heart defects, and posterior embryotoxon | 1 | Mar 2, 2022 |
| Deafness, congenital, and adult-onset progressive leukoencephalopathy | 4 | Mar 2, 2021 |
| Deafness, digenic, GJB2/GJB3 | 3 | Jun 13, 2017 |
| Deafness, digenic, GJB2/GJB6 | 3 | May 26, 2022 |
| Deafness, mitochondrial, modifier of | 1 | Aug 23, 2017 |
| Deafness, neurosensory autosomal recessive 21 | 3 | Jun 13, 2018 |
| Deafness, sensorineural, with neurologic features | 1 | Mar 19, 2013 |
| Deafness, with smith-magenis syndrome | 1 | Jan 2, 2013 |
| Deafness, without vestibular involvement, autosomal dominant | 4 | Aug 26, 2019 |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 6 | Apr 17, 2023 |
| Deafness-intellectual disability, Martin-Probst type syndrome | 1 | Oct 28, 2021 |
| Deafness-lymphedema-leukemia syndrome | 5 | Sep 3, 2013 |
| Debrisoquine, poor metabolism of | 6 | Aug 12, 2016 |
| Debrisoquine, ultrarapid metabolism of | 1 | Jun 7, 2012 |
| Decreased circulating IgG2 concentration | 1 | Aug 11, 2015 |
| Deeah syndrome | 4 | Feb 8, 2022 |
| Deep venous thrombosis, protection against | 1 | Jul 24, 2020 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 8 | Jun 11, 2020 |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2 | Aug 18, 2015 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 13 | Apr 27, 2020 |
| Deficiency of acetyl-CoA acetyltransferase | 16 | Oct 3, 2016 |
| Deficiency of alpha-mannosidase | 7 | Aug 23, 2017 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 8 | Jun 24, 2021 |
| Deficiency of beta-ureidopropionase | 9 | Aug 24, 2022 |
| Deficiency of bisphosphoglycerate mutase | 4 | Jul 17, 2020 |
| Deficiency of butyryl-CoA dehydrogenase | 16 | Oct 5, 2011 |
| Deficiency of butyrylcholinesterase | 4 | Apr 24, 2018 |
| Deficiency of ferroxidase | 6 | Mar 14, 2024 |
| Deficiency of galactokinase | 6 | Apr 27, 2020 |
| Deficiency of guanidinoacetate methyltransferase | 7 | Jun 23, 2022 |
| Deficiency of hyaluronoglucosaminidase | 3 | Mar 1, 2022 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 6 | May 8, 2015 |
| Deficiency of iodide peroxidase | 15 | Oct 10, 2016 |
| Deficiency of isobutyryl-CoA dehydrogenase | 5 | Jun 19, 2019 |
| Deficiency of malonyl-CoA decarboxylase | 8 | Apr 20, 2020 |
| Deficiency of phosphoserine phosphatase | 3 | Oct 10, 2016 |
| Deficiency of ribose-5-phosphate isomerase | 3 | Jun 21, 2019 |
| Deficiency of steroid 11-beta-monooxygenase | 16 | Feb 22, 2022 |
| Deficiency of transaldolase | 5 | Jun 15, 2020 |
| Dehydrated hereditary stomatocytosis 2 | 3 | Dec 11, 2015 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 9 | Oct 21, 2019 |
| Dejerine-Sottas disease | 1 | Jun 22, 2017 |
| Dejerine-sottas neuropathy, autosomal dominant | 2 | Nov 27, 2018 |
| Delayed puberty, self-limited | 3 | Nov 11, 2021 |
| Delayed sleep phase syndrome, susceptibility to | 2 | May 25, 2017 |
| Delpire-McNeill syndrome | 4 | Nov 10, 2020 |
| Delta-0-thalassemia | 1 | Dec 12, 2017 |
| Delta-beta-thalassemia | 1 | Jul 25, 2018 |
| Delta-plus-thalassemia | 1 | Dec 12, 2017 |
| Dementia, Lewy body, susceptibility to | 2 | Sep 4, 2020 |
| Dengue fever, protection against | 1 | Mar 9, 2012 |
| Dent disease type 1 | 7 | Jun 22, 2021 |
| Dent disease type 2 | 5 | Aug 6, 2021 |
| Dentatorubral-pallidoluysian atrophy | 1 | Oct 31, 2019 |
| Dentici-Novelli neurodevelopmental syndrome | 4 | May 20, 2022 |
| Denticles | 2 | May 5, 2016 |
| Dentin dysplasia, type I, with extreme microdontia and misshapen teeth | 2 | May 5, 2016 |
| Dentinogenesis imperfecta type 2 | 6 | Oct 7, 2016 |
| Dentinogenesis imperfecta type 3 | 1 | Oct 7, 2016 |
| Dermatitis, atopic, 2, susceptibility to | 4 | Feb 10, 2017 |
| Dermatofibrosarcoma protuberans | 1 | Oct 25, 2013 |
| Dermatofibrosis lenticularis disseminata | 4 | Jun 22, 2020 |
| Dermatofibrosis lenticularis disseminata, isolated | 2 | Jun 22, 2020 |
| Dermatopathia pigmentosa reticularis | 1 | Jan 13, 2022 |
| Desbuquois dysplasia 1 | 16 | Oct 19, 2020 |
| Desbuquois dysplasia 2 | 11 | Nov 7, 2019 |
| Desmin-related myofibrillar myopathy | 18 | Aug 29, 2020 |
| Desmoid disease, hereditary | 4 | Feb 23, 2021 |
| Desmoid tumor caused by somatic mutation | 2 | Mar 20, 2020 |
| Desmoplastic/nodular medulloblastoma | 1 | Dec 19, 2012 |
| Desmosterolosis | 6 | Jul 31, 2015 |
| Deuteranomaly | 4 | Jan 14, 2015 |
| Developmental and epileptic encephalopathy 100 | 6 | Mar 10, 2022 |
| Developmental and epileptic encephalopathy 101 | 2 | Mar 25, 2022 |
| Developmental and epileptic encephalopathy 102 | 5 | May 25, 2022 |
| Developmental and epileptic encephalopathy 103 | 6 | Jun 15, 2022 |
| Developmental and epileptic encephalopathy 104 | 4 | Jul 26, 2022 |
| Developmental and epileptic encephalopathy 105 with hypopituitarism | 3 | Aug 12, 2022 |
| Developmental and epileptic encephalopathy 106 | 1 | Sep 7, 2022 |
| Developmental and epileptic encephalopathy 108 | 5 | Nov 10, 2022 |
| Developmental and epileptic encephalopathy 109 | 4 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy 110 | 3 | Dec 7, 2022 |
| Developmental and epileptic encephalopathy 111 | 2 | Sep 20, 2023 |
| Developmental and epileptic encephalopathy 113 | 2 | Mar 25, 2024 |
| Developmental and epileptic encephalopathy 114 | 3 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy 115 | 4 | Apr 9, 2024 |
| Developmental and epileptic encephalopathy 116 | 1 | Apr 30, 2024 |
| Developmental and epileptic encephalopathy 6B | 3 | May 17, 2021 |
| Developmental and epileptic encephalopathy 89 | 9 | Dec 10, 2021 |
| Developmental and epileptic encephalopathy 91 | 6 | Mar 15, 2021 |
| Developmental and epileptic encephalopathy 92 | 5 | Mar 15, 2021 |
| Developmental and epileptic encephalopathy 93 | 6 | Nov 3, 2022 |
| Developmental and epileptic encephalopathy 94 | 10 | Apr 14, 2021 |
| Developmental and epileptic encephalopathy 96 | 2 | May 28, 2021 |
| Developmental and epileptic encephalopathy 97 | 3 | Nov 12, 2021 |
| Developmental and epileptic encephalopathy 98 | 3 | Nov 10, 2021 |
| Developmental and epileptic encephalopathy 99 | 3 | Nov 10, 2021 |
| Developmental and epileptic encephalopathy, 1 | 9 | Aug 23, 2021 |
| Developmental and epileptic encephalopathy, 11 | 10 | Oct 19, 2020 |
| Developmental and epileptic encephalopathy, 12 | 7 | Oct 12, 2023 |
| Developmental and epileptic encephalopathy, 13 | 9 | Dec 3, 2020 |
| Developmental and epileptic encephalopathy, 14 | 6 | Oct 20, 2020 |
| Developmental and epileptic encephalopathy, 15 | 2 | Jan 22, 2021 |
| Developmental and epileptic encephalopathy, 16 | 9 | Apr 30, 2024 |
| Developmental and epileptic encephalopathy, 17 | 4 | Oct 21, 2020 |
| Developmental and epileptic encephalopathy, 18 | 12 | Jan 7, 2022 |
| Developmental and epileptic encephalopathy, 19 | 4 | Jan 21, 2021 |
| Developmental and epileptic encephalopathy, 2 | 14 | Apr 1, 2022 |
| Developmental and epileptic encephalopathy, 21 | 2 | Dec 11, 2020 |
| Developmental and epileptic encephalopathy, 23 | 4 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 24 | 8 | Sep 8, 2021 |
| Developmental and epileptic encephalopathy, 25 | 9 | Oct 7, 2021 |
| Developmental and epileptic encephalopathy, 26 | 3 | Oct 12, 2020 |
| Developmental and epileptic encephalopathy, 27 | 2 | Oct 15, 2020 |
| Developmental and epileptic encephalopathy, 28 | 7 | Oct 15, 2020 |
| Developmental and epileptic encephalopathy, 29 | 4 | Mar 2, 2022 |
| Developmental and epileptic encephalopathy, 3 | 3 | Oct 8, 2020 |
| Developmental and epileptic encephalopathy, 30 | 5 | Oct 23, 2020 |
| Developmental and epileptic encephalopathy, 31A | 6 | Apr 26, 2023 |
| Developmental and epileptic encephalopathy, 31B | 3 | Apr 26, 2023 |
| Developmental and epileptic encephalopathy, 32 | 4 | Oct 26, 2020 |
| Developmental and epileptic encephalopathy, 33 | 1 | Dec 3, 2020 |
| Developmental and epileptic encephalopathy, 34 | 3 | Oct 23, 2020 |
| Developmental and epileptic encephalopathy, 35 | 4 | Oct 23, 2020 |
| Developmental and epileptic encephalopathy, 36 | 6 | Aug 26, 2022 |
| Developmental and epileptic encephalopathy, 37 | 4 | Oct 23, 2020 |
| Developmental and epileptic encephalopathy, 38 | 3 | Oct 23, 2020 |
| Developmental and epileptic encephalopathy, 39 | 4 | Oct 28, 2022 |
| Developmental and epileptic encephalopathy, 4 | 8 | Nov 22, 2022 |
| Developmental and epileptic encephalopathy, 40 | 1 | Nov 20, 2020 |
| Developmental and epileptic encephalopathy, 41 | 4 | Nov 19, 2020 |
| Developmental and epileptic encephalopathy, 42 | 3 | Nov 19, 2020 |
| Developmental and epileptic encephalopathy, 43 | 6 | Nov 11, 2022 |
| Developmental and epileptic encephalopathy, 44 | 11 | Nov 19, 2020 |
| Developmental and epileptic encephalopathy, 45 | 3 | Nov 10, 2020 |
| Developmental and epileptic encephalopathy, 46 | 4 | Nov 19, 2020 |
| Developmental and epileptic encephalopathy, 47 | 1 | Nov 29, 2021 |
| Developmental and epileptic encephalopathy, 48 | 6 | Nov 19, 2020 |
| Developmental and epileptic encephalopathy, 49 | 4 | Nov 19, 2020 |
| Developmental and epileptic encephalopathy, 5 | 6 | Oct 17, 2023 |
| Developmental and epileptic encephalopathy, 50 | 5 | Nov 11, 2020 |
| Developmental and epileptic encephalopathy, 51 | 7 | Feb 19, 2024 |
| Developmental and epileptic encephalopathy, 52 | 4 | Oct 9, 2020 |
| Developmental and epileptic encephalopathy, 53 | 4 | Nov 11, 2020 |
| Developmental and epileptic encephalopathy, 54 | 3 | Nov 11, 2020 |
| Developmental and epileptic encephalopathy, 55 | 2 | Nov 11, 2020 |
| Developmental and epileptic encephalopathy, 56 | 3 | Dec 3, 2020 |
| Developmental and epileptic encephalopathy, 57 | 6 | Dec 4, 2020 |
| Developmental and epileptic encephalopathy, 58 | 1 | Nov 9, 2020 |
| Developmental and epileptic encephalopathy, 59 | 3 | Nov 11, 2020 |
| Developmental and epileptic encephalopathy, 60 | 3 | Nov 17, 2020 |
| Developmental and epileptic encephalopathy, 61 | 3 | Feb 22, 2021 |
| Developmental and epileptic encephalopathy, 62 | 3 | Nov 17, 2020 |
| Developmental and epileptic encephalopathy, 63 | 3 | Nov 17, 2020 |
| Developmental and epileptic encephalopathy, 64 | 5 | Nov 17, 2020 |
| Developmental and epileptic encephalopathy, 65 | 10 | Nov 17, 2020 |
| Developmental and epileptic encephalopathy, 66 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 67 | 1 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 68 | 4 | Nov 24, 2020 |
| Developmental and epileptic encephalopathy, 69 | 6 | Aug 31, 2022 |
| Developmental and epileptic encephalopathy, 7 | 6 | Oct 13, 2020 |
| Developmental and epileptic encephalopathy, 70 | 3 | Nov 25, 2020 |
| Developmental and epileptic encephalopathy, 71 | 3 | Nov 25, 2020 |
| Developmental and epileptic encephalopathy, 72 | 2 | Nov 25, 2020 |
| Developmental and epileptic encephalopathy, 73 | 2 | Nov 25, 2020 |
| Developmental and epileptic encephalopathy, 74 | 3 | Nov 25, 2020 |
| Developmental and epileptic encephalopathy, 75 | 7 | Nov 25, 2020 |
| Developmental and epileptic encephalopathy, 76 | 8 | Nov 25, 2020 |
| Developmental and epileptic encephalopathy, 77 | 6 | Jan 26, 2021 |
| Developmental and epileptic encephalopathy, 78 | 5 | Nov 25, 2020 |
| Developmental and epileptic encephalopathy, 79 | 3 | Nov 25, 2020 |
| Developmental and epileptic encephalopathy, 8 | 2 | Oct 6, 2020 |
| Developmental and epileptic encephalopathy, 80 | 6 | Oct 20, 2020 |
| Developmental and epileptic encephalopathy, 81 | 5 | Oct 7, 2020 |
| Developmental and epileptic encephalopathy, 82 | 4 | Oct 11, 2020 |
| Developmental and epileptic encephalopathy, 83 | 1 | Oct 21, 2020 |
| Developmental and epileptic encephalopathy, 84 | 7 | Oct 7, 2020 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 9 | Dec 1, 2020 |
| Developmental and epileptic encephalopathy, 86 | 1 | Oct 7, 2020 |
| Developmental and epileptic encephalopathy, 87 | 5 | Oct 18, 2022 |
| Developmental and epileptic encephalopathy, 88 | 1 | Mar 3, 2021 |
| Developmental and epileptic encephalopathy, 9 | 8 | Dec 7, 2020 |
| Developmental and epileptic encephalopathy, 90 | 4 | Jan 18, 2023 |
| Developmental and epileptic encephalopathy-107 | 3 | Sep 13, 2022 |
| Developmental delay and seizures with or without movement abnormalities | 2 | Jan 24, 2018 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Dec 14, 2021 |
| Developmental delay with dysmorphic facies and dental anomalies | 2 | Apr 28, 2021 |
| Developmental delay with hypotonia, myopathy, and brain abnormalities | 3 | Mar 9, 2023 |
| Developmental delay with or without dysmorphic facies and autism | 5 | Feb 18, 2020 |
| Developmental delay with or without epilepsy | 3 | Oct 17, 2023 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 3 | May 22, 2023 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | 6 | Nov 12, 2021 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | 3 | Sep 30, 2022 |
| Developmental delay with variable intellectual disability and dysmorphic facies | 2 | Nov 2, 2022 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 9 | May 20, 2019 |
| Developmental delay with variable neurologic and brain abnormalities | 2 | Jan 12, 2022 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 5 | Oct 7, 2022 |
| Developmental delay, dysmorphic facies, and brain anomalies | 2 | Oct 9, 2023 |
| Developmental delay, hypotonia, and impaired language | 5 | Aug 26, 2022 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 4 | Nov 8, 2021 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 4 | Jan 11, 2021 |
| Developmental delay, impaired speech, and behavioral abnormalities | 5 | Aug 11, 2021 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 3 | Jul 21, 2022 |
| Developmental delay, language impairment, and ocular abnormalities | 1 | Nov 29, 2022 |
| Developmental dysplasia of the hip 3 | 4 | Jan 26, 2024 |
| Developmental malformations-deafness-dystonia syndrome | 1 | Mar 8, 2018 |
| DiGeorge syndrome | 1 | Sep 24, 2012 |
| Diabetes insipidus, nephrogenic, X-linked | 20 | Jun 23, 2021 |
| Diabetes insipidus, nephrogenic, autosomal | 18 | Jun 24, 2021 |
| Diabetes insipidus, neurohypophyseal, autosomal recessive | 1 | Jun 22, 2021 |
| Diabetes mellitus type 2, susceptibility to | 25 | Jan 12, 2024 |
| Diabetes mellitus, insulin-dependent, susceptibility to | 2 | Oct 27, 2011 |
| Diabetes mellitus, ketosis-prone, susceptibility to | 2 | Aug 23, 2019 |
| Diabetes mellitus, noninsulin-dependent, maternally transmitted | 1 | Nov 12, 2012 |
| Diabetes mellitus, permanent neonatal 2 | 11 | Dec 1, 2020 |
| Diabetes mellitus, permanent neonatal 3 | 9 | Dec 1, 2020 |
| Diabetes mellitus, permanent neonatal 4 | 7 | Dec 1, 2020 |
| Diabetes mellitus, transient neonatal, 1 | 7 | Mar 4, 2019 |
| Diabetes mellitus, transient neonatal, 2 | 2 | Apr 30, 2020 |
| Diabetes mellitus, transient neonatal, 3 | 4 | Apr 30, 2020 |
| Diabetes mellitus, type 1, susceptibility to | 1 | Jan 8, 2021 |
| Diabetes, deafness, developmental delay, and short stature syndrome | 2 | Dec 6, 2023 |
| Diabetes-deafness syndrome maternally transmitted | 4 | Sep 11, 2017 |
| Diamond-Blackfan anemia 1 | 9 | Oct 17, 2016 |
| Diamond-Blackfan anemia 10 | 8 | May 16, 2017 |
| Diamond-Blackfan anemia 11 | 1 | Nov 4, 2013 |
| Diamond-Blackfan anemia 12 | 5 | May 17, 2023 |
| Diamond-Blackfan anemia 13 | 2 | Jul 29, 2014 |
| Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 1 | Sep 25, 2019 |
| Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 1 | Mar 14, 2018 |
| Diamond-Blackfan anemia 16 | 1 | Mar 28, 2017 |
| Diamond-Blackfan anemia 17 | 1 | Mar 28, 2017 |
| Diamond-Blackfan anemia 18 | 1 | Feb 6, 2019 |
| Diamond-Blackfan anemia 19 | 1 | Feb 6, 2019 |
| Diamond-Blackfan anemia 20 | 1 | Apr 6, 2021 |
| Diamond-Blackfan anemia 21 | 5 | Oct 11, 2022 |
| Diamond-Blackfan anemia 3 | 4 | Mar 13, 2015 |
| Diamond-Blackfan anemia 4 | 4 | Apr 18, 2017 |
| Diamond-Blackfan anemia 5 | 3 | Jan 5, 2017 |
| Diamond-Blackfan anemia 6 | 8 | Feb 20, 2014 |
| Diamond-Blackfan anemia 7 | 6 | May 27, 2021 |
| Diamond-Blackfan anemia 8 | 2 | Jul 18, 2017 |
| Diamond-Blackfan anemia 9 | 3 | Dec 5, 2016 |
| Diamond-Blackfan anemia-like | 1 | Mar 16, 2018 |
| Diaphanospondylodysostosis | 6 | Nov 26, 2019 |
| Diaphragmatic hernia 3 | 4 | Dec 12, 2017 |
| Diaphragmatic hernia 4, with cardiovascular defects | 4 | Sep 1, 2022 |
| Diaphyseal dysplasia | 6 | Aug 3, 2021 |
| Diaphyseal medullary stenosis-bone malignancy syndrome | 2 | Sep 15, 2016 |
| Diarrhea 10, protein-losing enteropathy type | 3 | Nov 20, 2018 |
| Diarrhea 11, malabsorptive, congenital | 2 | Nov 14, 2019 |
| Diarrhea 12, with microvillus atrophy | 1 | Jul 21, 2021 |
| Diarrhea 13 | 1 | Apr 28, 2023 |
| Diarrhea 9 | 2 | Oct 31, 2018 |
| Dias-Logan syndrome | 6 | Sep 8, 2016 |
| Diastrophic dysplasia | 6 | Mar 22, 2019 |
| Diastrophic dysplasia, broad bone-platyspondylic variant | 1 | Dec 12, 2012 |
| Dicarboxylic aminoaciduria | 2 | Sep 5, 2014 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 4 | Oct 30, 2019 |
| Diencephalic-mesencephalic junction dysplasia syndrome 2 | 2 | Aug 14, 2020 |
| Diets-Jongmans syndrome | 5 | Jan 22, 2021 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 4 | Aug 20, 2019 |
| Diffuse gastric and lobular breast cancer syndrome with cleft lip and with or without cleft palate | 2 | Sep 20, 2017 |
| Diffuse nonepidermolytic palmoplantar keratoderma | 3 | Dec 21, 2012 |
| Dihydropteridine reductase deficiency | 7 | Mar 18, 2022 |
| Dihydropyrimidinase deficiency | 7 | Jul 14, 2020 |
| Dihydropyrimidine dehydrogenase deficiency | 5 | Dec 22, 2017 |
| Dilated cardiomyopathy 1A | 10 | Mar 11, 2022 |
| Dilated cardiomyopathy 1AA | 3 | Apr 25, 2017 |
| Dilated cardiomyopathy 1BB | 2 | Apr 22, 2022 |
| Dilated cardiomyopathy 1C | 6 | Oct 10, 2017 |
| Dilated cardiomyopathy 1CC | 3 | Nov 23, 2016 |
| Dilated cardiomyopathy 1D | 7 | Sep 9, 2013 |
| Dilated cardiomyopathy 1DD | 6 | May 18, 2015 |
| Dilated cardiomyopathy 1E | 6 | Nov 7, 2018 |
| Dilated cardiomyopathy 1EE | 3 | Apr 17, 2018 |
| Dilated cardiomyopathy 1FF | 2 | Sep 6, 2016 |
| Dilated cardiomyopathy 1G | 6 | Jun 11, 2019 |
| Dilated cardiomyopathy 1GG | 1 | Jan 28, 2021 |
| Dilated cardiomyopathy 1HH | 7 | Dec 18, 2017 |
| Dilated cardiomyopathy 1I | 2 | Aug 29, 2020 |
| Dilated cardiomyopathy 1II | 2 | Sep 15, 2016 |
| Dilated cardiomyopathy 1J | 1 | Sep 20, 2019 |
| Dilated cardiomyopathy 1JJ | 2 | May 16, 2013 |
| Dilated cardiomyopathy 1KK | 5 | Nov 4, 2016 |
| Dilated cardiomyopathy 1L | 2 | Sep 25, 2018 |
| Dilated cardiomyopathy 1M | 2 | Nov 9, 2016 |
| Dilated cardiomyopathy 1NN | 3 | Aug 23, 2016 |
| Dilated cardiomyopathy 1O | 2 | Feb 12, 2020 |
| Dilated cardiomyopathy 1P | 4 | May 20, 2011 |
| Dilated cardiomyopathy 1R | 2 | Oct 6, 2016 |
| Dilated cardiomyopathy 1S | 4 | Nov 7, 2016 |
| Dilated cardiomyopathy 1T | 1 | Mar 27, 2017 |
| Dilated cardiomyopathy 1U | 1 | May 12, 2017 |
| Dilated cardiomyopathy 1V | 1 | Feb 26, 2015 |
| Dilated cardiomyopathy 1W | 2 | Apr 17, 2013 |
| Dilated cardiomyopathy 1X | 3 | Nov 19, 2018 |
| Dilated cardiomyopathy 1Y | 2 | Jul 9, 2012 |
| Dilated cardiomyopathy 1Z | 4 | Jul 21, 2023 |
| Dilated cardiomyopathy 2A | 1 | Aug 17, 2018 |
| Dilated cardiomyopathy 2B | 1 | Apr 22, 2015 |
| Dilated cardiomyopathy 3B | 4 | Jul 3, 2017 |
| Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 2 | Mar 11, 2022 |
| Dimethylglycine dehydrogenase deficiency | 2 | Mar 21, 2024 |
| Disabling pansclerotic morphea of childhood | 3 | Jul 11, 2023 |
| Distal arthrogryposis type 2B1 | 5 | Nov 1, 2019 |
| Distal arthrogryposis type 5D | 10 | Jun 15, 2015 |
| Distal myopathy with anterior tibial onset | 2 | Sep 25, 2018 |
| Distal myopathy with posterior leg and anterior hand involvement | 4 | Sep 14, 2022 |
| Distal myopathy, Tateyama type | 2 | Sep 27, 2018 |
| Distichiasis-lymphedema syndrome | 16 | Jan 2, 2019 |
| Dna topoisomerase II, resistance to inhibition of, by amsacrine | 1 | Jul 1, 2013 |
| Dominant beta-thalassemia | 5 | Aug 3, 2021 |
| Dominant dystrophic epidermolysis bullosa with absence of skin | 1 | May 1, 2012 |
| Donnai-Barrow syndrome | 10 | Jul 1, 2019 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 8 | Aug 14, 2015 |
| Dopamine beta-hydroxylase polymorphism | 1 | Nov 14, 2018 |
| Double outlet right ventricle | 6 | Apr 18, 2018 |
| Dowling-Degos disease 1 | 2 | Jan 21, 2018 |
| Dowling-Degos disease 2 | 2 | Oct 19, 2016 |
| Dowling-Degos disease 4 | 5 | Sep 25, 2018 |
| Down syndrome, susceptibility to | 1 | Jan 20, 2010 |
| Doyne honeycomb retinal dystrophy | 1 | Dec 9, 2013 |
| Drash syndrome | 11 | Oct 18, 2016 |
| Drug-induced liver injury due to flucloxacillin | 1 | Apr 25, 2017 |
| Duane retraction syndrome 2 | 9 | Mar 1, 2020 |
| Duane retraction syndrome 3 with or without deafness | 4 | Jul 18, 2016 |
| Duane-radial ray syndrome | 12 | Jun 10, 2021 |
| Dubin-Johnson syndrome | 9 | Sep 16, 2016 |
| Duchenne muscular dystrophy | 61 | May 3, 2018 |
| Dworschak-Punetha neurodevelopmental syndrome | 6 | Jul 13, 2022 |
| Dyggve-Melchior-Clausen syndrome | 8 | Jul 13, 2015 |
| Dyschromatosis universalis hereditaria 1 | 9 | Jun 24, 2019 |
| Dyschromatosis universalis hereditaria 3 | 4 | Aug 17, 2015 |
| Dysfibrinogenemia | 2 | Nov 7, 2018 |
| Dyskeratosis congenita, X-linked | 15 | Dec 11, 2017 |
| Dyskeratosis congenita, autosomal dominant 1 | 4 | Mar 20, 2018 |
| Dyskeratosis congenita, autosomal dominant 2 | 3 | May 10, 2023 |
| Dyskeratosis congenita, autosomal dominant 3 | 7 | Sep 18, 2015 |
| Dyskeratosis congenita, autosomal dominant 4 | 2 | Apr 12, 2017 |
| Dyskeratosis congenita, autosomal dominant 6 | 1 | Oct 14, 2021 |
| Dyskeratosis congenita, autosomal recessive 1 | 1 | Sep 18, 2015 |
| Dyskeratosis congenita, autosomal recessive 2 | 3 | Sep 18, 2015 |
| Dyskeratosis congenita, autosomal recessive 3 | 4 | Oct 21, 2016 |
| Dyskeratosis congenita, autosomal recessive 5 | 11 | May 2, 2017 |
| Dyskeratosis congenita, autosomal recessive 6 | 6 | Jan 12, 2016 |
| Dyskeratosis congenita, autosomal recessive 7 | 2 | Oct 13, 2021 |
| Dyskeratosis congenita, autosomal recessive 8 | 4 | Nov 28, 2022 |
| Dyskeratosis congenita, digenic | 4 | Sep 22, 2022 |
| Dyskinesia with orofacial involvement, autosomal dominant | 6 | Jun 4, 2022 |
| Dyskinesia with orofacial involvement, autosomal recessive | 3 | Jun 4, 2022 |
| Dyslexia, susceptibility to, 1 | 2 | Apr 29, 2017 |
| Dysostosis multiplex, Ain-Naz type | 2 | May 25, 2021 |
| Dysplasminogenemia | 4 | May 30, 2019 |
| Dystonia 1, torsion, late-onset | 1 | Oct 20, 2017 |
| Dystonia 12 | 9 | Apr 7, 2017 |
| Dystonia 16 | 2 | Apr 10, 2015 |
| Dystonia 22, adult-onset | 1 | Jul 31, 2023 |
| Dystonia 22, juvenile-onset | 2 | Jul 31, 2023 |
| Dystonia 23 | 1 | Jan 21, 2020 |
| Dystonia 24 | 4 | Aug 7, 2017 |
| Dystonia 25 | 6 | Jan 12, 2018 |
| Dystonia 27 | 5 | Jun 5, 2015 |
| Dystonia 28, childhood-onset | 8 | Feb 1, 2017 |
| Dystonia 30 | 6 | Apr 30, 2021 |
| Dystonia 31 | 5 | Jan 28, 2022 |
| Dystonia 32 | 1 | Nov 30, 2021 |
| Dystonia 33 | 3 | Feb 11, 2022 |
| Dystonia 34, myoclonic | 1 | Feb 15, 2022 |
| Dystonia 35, childhood-onset | 2 | Jun 23, 2022 |
| Dystonia 37, early-onset, with striatal lesions | 4 | Jun 26, 2023 |
| Dystonia 5 | 15 | Aug 4, 2016 |
| Dystonia 9 | 2 | Mar 25, 2017 |
| Dystonia, adult-onset | 1 | Jul 8, 2016 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 7 | Jun 23, 2021 |
| Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive | 6 | Oct 31, 2017 |
| Dystonia, early-onset atypical, with myoclonic features | 1 | Jan 15, 2015 |
| Dystonia, early-onset, and/or spastic paraplegia | 3 | May 4, 2023 |
| Dystonia, mitochondrial | 1 | Aug 2, 2011 |
| EAST syndrome | 11 | Sep 20, 2021 |
| ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT | 1 | Aug 9, 2016 |
| ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED | 5 | Jun 10, 2020 |
| EDICT syndrome | 1 | Dec 18, 2019 |
| EEM syndrome | 2 | Nov 21, 2017 |
| EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT | 1 | Dec 21, 2017 |
| ENCEPHALOPATHY, ACUTE TRANSIENT | 4 | Sep 17, 2024 |
| EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE | 1 | Oct 28, 2021 |
| EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | 2 | Oct 28, 2021 |
| EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY | 6 | Aug 14, 2023 |
| EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | 1 | Aug 10, 2018 |
| EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | 2 | Aug 10, 2018 |
| EPOXIDE HYDROLASE 1 POLYMORPHISM | 2 | Apr 8, 2021 |
| ER BLOOD GROUP SYSTEM, ER(a-b-) | 2 | Jan 26, 2023 |
| ERBB2 POLYMORPHISM | 2 | Mar 8, 2013 |
| ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC | 1 | Feb 24, 2021 |
| Early-onset Lafora body disease | 1 | Nov 1, 2016 |
| Early-onset Parkinson disease 20 | 2 | Mar 8, 2017 |
| Early-onset generalized limb-onset dystonia | 2 | Oct 20, 2017 |
| Early-onset myopathy with fatal cardiomyopathy | 4 | Jun 7, 2017 |
| Early-onset parkinsonism-intellectual disability syndrome | 2 | Aug 20, 2021 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 10 | Nov 16, 2016 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 3 | Sep 18, 2017 |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 3 | Mar 26, 2020 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 9 | Dec 22, 2017 |
| Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant | 4 | Aug 4, 2016 |
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | 1 | Aug 9, 2016 |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 2 | Aug 9, 2016 |
| Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | 1 | Feb 6, 2017 |
| Ectodermal dysplasia 13, hair/tooth type | 1 | Mar 13, 2017 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 5 | Dec 5, 2022 |
| Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | 2 | Dec 5, 2022 |
| Ectodermal dysplasia 15, hypohidrotic/hair type | 1 | Aug 12, 2019 |
| Ectodermal dysplasia 4, hair/nail type | 2 | Jan 9, 2014 |
| Ectodermal dysplasia 7, hair/nail type | 1 | Jul 20, 2017 |
| Ectodermal dysplasia 9, hair/nail type | 3 | May 31, 2018 |
| Ectodermal dysplasia and immunodeficiency 1 | 10 | May 27, 2022 |
| Ectodermal dysplasia and immunodeficiency 2 | 10 | Sep 28, 2023 |
| Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | 2 | Jan 29, 2020 |
| Ectodermal dysplasia-syndactyly syndrome 1 | 6 | Jul 16, 2018 |
| Ectopia lentis 1, isolated, autosomal dominant | 3 | Sep 28, 2016 |
| Ectopia lentis 2, isolated, autosomal recessive | 6 | Jan 3, 2018 |
| Ectopia lentis et pupillae | 3 | Jan 3, 2018 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 9 | Oct 14, 2018 |
| Eculizumab, poor response to | 2 | Sep 15, 2016 |
| Efavirenz response | 6 | Mar 19, 2014 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 5 | May 30, 2018 |
| Ehlers-Danlos syndrome progeroid type | 7 | Dec 22, 2017 |
| Ehlers-Danlos syndrome, arthrochalasia type | 4 | Jul 18, 2019 |
| Ehlers-Danlos syndrome, cardiac valvular type | 6 | Jun 26, 2018 |
| Ehlers-Danlos syndrome, classic type | 8 | Apr 5, 2018 |
| Ehlers-Danlos syndrome, classic type, 1 | 12 | Dec 21, 2017 |
| Ehlers-Danlos syndrome, classic-like, 2 | 5 | Mar 8, 2022 |
| Ehlers-Danlos syndrome, classic-like, 3 | 1 | Jun 25, 2024 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 3 | Dec 21, 2017 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 10 | Dec 21, 2017 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 4 | Jan 15, 2019 |
| Ehlers-Danlos syndrome, musculocontractural type 1 | 11 | Jul 27, 2022 |
| Ehlers-Danlos syndrome, musculocontractural type 2 | 2 | Nov 8, 2017 |
| Ehlers-Danlos syndrome, periodontal type 1 | 7 | Oct 29, 2016 |
| Ehlers-Danlos syndrome, periodontal type 2 | 2 | Oct 29, 2016 |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 2 | Dec 22, 2017 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 1 | Nov 30, 2023 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 7 | Mar 17, 2021 |
| Ehlers-Danlos syndrome, type 4 | 31 | Mar 5, 2019 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 6 | Jul 30, 2021 |
| Eichsfeld type congenital muscular dystrophy | 13 | Apr 20, 2023 |
| Eiken syndrome | 3 | Jul 6, 2021 |
| El Hayek-Chahrour neurodevelopmental disorder | 3 | May 8, 2024 |
| Elevated circulating creatine kinase concentration | 4 | Sep 27, 2018 |
| Elliptocytosis 1 | 5 | Mar 29, 2018 |
| Elliptocytosis 2 | 16 | Nov 7, 2018 |
| Elliptocytosis 3 | 7 | Apr 25, 2018 |
| Ellis-van Creveld syndrome | 17 | Apr 10, 2017 |
| Elsahy-Waters syndrome | 3 | Apr 27, 2018 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 12 | Mar 11, 2022 |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 3 | Mar 11, 2022 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 3 | Jun 16, 2020 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Jun 16, 2020 |
| Emery-Dreifuss muscular dystrophy 6 | 3 | Sep 19, 2016 |
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 | Sep 28, 2018 |
| Emm-null phenotype | 6 | Jan 20, 2023 |
| Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 | 4 | Jul 22, 2021 |
| Encephalitis, acute, infection-induced, susceptibility to, 12 | 7 | Aug 10, 2023 |
| Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | 1 | Sep 11, 2018 |
| Encephalocardiomyopathy, mitochondrial | 1 | Mar 21, 2012 |
| Encephalocraniocutaneous lipomatosis | 2 | Aug 11, 2016 |
| Encephalopathy due to GLUT1 deficiency | 6 | Mar 25, 2017 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 6 | Feb 8, 2023 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 | 4 | Jul 1, 2021 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | 2 | Jun 6, 2019 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 3 | Mar 15, 2018 |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 1 | Mar 15, 2018 |
| Encephalopathy, acute, infection-induced, susceptibility to, 9 | 4 | Jun 19, 2019 |
| Encephalopathy, familial progressive necrotizing | 1 | Apr 23, 2012 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 9 | Dec 28, 2020 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 3 | Sep 16, 2017 |
| Encephalopathy, porphyria-related | 4 | Feb 19, 2024 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 7 | Nov 14, 2016 |
| Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | 1 | Feb 22, 2019 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 2 | Nov 29, 2016 |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 2 | Oct 11, 2016 |
| Endocrine-cerebro-osteodysplasia syndrome | 2 | Apr 4, 2019 |
| Endometrial cancer | 2 | Aug 20, 2019 |
| Endometrial carcinoma | 8 | Aug 16, 2019 |
| Endove syndrome, limb-brain type | 1 | Mar 3, 2021 |
| Enhanced S-cone syndrome | 5 | Feb 21, 2017 |
| Enterokinase deficiency | 4 | Oct 4, 2018 |
| Enzyme activity finding | 3 | Sep 14, 2012 |
| Eosinophil peroxidase deficiency | 3 | Aug 18, 2015 |
| Epidermal nevus | 11 | Mar 9, 2022 |
| Epidermal nevus with urothelial cancer, somatic | 1 | Apr 27, 2017 |
| Epidermodysplasia verruciformis, susceptibility to, 1 | 4 | Feb 7, 2019 |
| Epidermodysplasia verruciformis, susceptibility to, 2 | 3 | Feb 7, 2019 |
| Epidermodysplasia verruciformis, susceptibility to, 3 | 5 | Feb 1, 2019 |
| Epidermodysplasia verruciformis, susceptibility to, 4 | 1 | Mar 18, 2019 |
| Epidermodysplasia verruciformis, susceptibility to, 5 | 1 | Feb 1, 2019 |
| Epidermolysis bullosa dystrophica inversa, autosomal recessive | 5 | Oct 7, 2016 |
| Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant | 4 | Jun 3, 2022 |
| Epidermolysis bullosa pruriginosa, autosomal dominant | 4 | Oct 7, 2016 |
| Epidermolysis bullosa pruriginosa, autosomal recessive | 5 | Jun 3, 2022 |
| Epidermolysis bullosa simplex 1A, generalized severe | 8 | Jan 13, 2022 |
| Epidermolysis bullosa simplex 1C, localized | 4 | Nov 11, 2021 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 5 | Nov 11, 2021 |
| Epidermolysis bullosa simplex 2A, generalized severe | 5 | Feb 2, 2022 |
| Epidermolysis bullosa simplex 2B, generalized intermediate | 5 | Oct 28, 2021 |
| Epidermolysis bullosa simplex 2C, localized | 6 | Feb 3, 2022 |
| Epidermolysis bullosa simplex 2C, localized, modifier of | 1 | Feb 3, 2022 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 4 | Feb 3, 2022 |
| Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 8 | Oct 29, 2021 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 7 | Oct 29, 2021 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 4 | Oct 29, 2021 |
| Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | 6 | Feb 8, 2023 |
| Epidermolysis bullosa simplex 7, with nephropathy and deafness | 1 | Oct 29, 2021 |
| Epidermolysis bullosa simplex due to plakophilin deficiency | 6 | Feb 17, 2020 |
| Epidermolysis bullosa simplex with migratory circinate erythema | 4 | Feb 2, 2022 |
| Epidermolysis bullosa simplex with mottled pigmentation | 2 | Feb 2, 2022 |
| Epidermolysis bullosa simplex with nail dystrophy | 4 | Aug 4, 2022 |
| Epidermolysis bullosa simplex, Koebner type | 5 | Nov 11, 2021 |
| Epidermolysis bullosa simplex, Ogna type | 1 | Oct 29, 2021 |
| Epidermolysis bullosa, junctional 2A, intermediate | 3 | Aug 3, 2022 |
| Epidermolysis bullosa, junctional 2B, severe | 2 | Mar 29, 2022 |
| Epidermolysis bullosa, junctional 3A, intermediate | 3 | Mar 29, 2022 |
| Epidermolysis bullosa, junctional 3B, severe | 5 | Mar 29, 2022 |
| Epidermolysis bullosa, junctional 4, intermediate | 15 | Mar 29, 2022 |
| Epidermolysis bullosa, junctional 5A, intermediate | 2 | Mar 29, 2022 |
| Epidermolysis bullosa, junctional 6, with pyloric atresia | 5 | Mar 29, 2022 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 4 | Mar 29, 2022 |
| Epidermolysis bullosa, pretibial, autosomal recessive | 3 | Oct 7, 2016 |
| Epidermolytic hyperkeratosis 1 | 2 | Nov 30, 2023 |
| Epidermolytic hyperkeratosis 2A, autosomal dominant | 9 | Jul 15, 2011 |
| Epidermolytic hyperkeratosis 2B, autosomal recessive | 4 | Sep 8, 2021 |
| Epidermolytic ichthyosis | 7 | Dec 21, 2012 |
| Epidermolytic palmoplantar keratoderma, 1 | 13 | Mar 19, 2013 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 8 | Oct 14, 2022 |
| Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | 4 | Nov 22, 2022 |
| Epilepsy, childhood absence 2 | 2 | May 23, 2019 |
| Epilepsy, childhood absence 4 | 1 | Oct 21, 2020 |
| Epilepsy, childhood absence, susceptibility to, 5 | 3 | Sep 20, 2016 |
| Epilepsy, childhood absence, susceptibility to, 6 | 4 | Oct 6, 2009 |
| Epilepsy, early-onset, 3, with or without developmental delay | 3 | Aug 14, 2023 |
| Epilepsy, early-onset, vitamin B6-dependent | 6 | Mar 14, 2019 |
| Epilepsy, early-onset, with or without developmental delay | 4 | Apr 9, 2020 |
| Epilepsy, familial adult myoclonic, 1 | 1 | Oct 31, 2019 |
| Epilepsy, familial adult myoclonic, 2 | 2 | Nov 14, 2019 |
| Epilepsy, familial adult myoclonic, 3 | 1 | Nov 15, 2019 |
| Epilepsy, familial adult myoclonic, 4 | 1 | Nov 22, 2019 |
| Epilepsy, familial adult myoclonic, 5 | 3 | Apr 25, 2024 |
| Epilepsy, familial adult myoclonic, 6 | 1 | Aug 3, 2018 |
| Epilepsy, familial adult myoclonic, 7 | 1 | Aug 3, 2018 |
| Epilepsy, familial focal, with variable foci 1 | 15 | Sep 20, 2023 |
| Epilepsy, familial focal, with variable foci 2 | 4 | Sep 21, 2016 |
| Epilepsy, familial focal, with variable foci 3 | 6 | Mar 2, 2023 |
| Epilepsy, familial focal, with variable foci 4 | 4 | Sep 1, 2020 |
| Epilepsy, familial temporal lobe, 1 | 11 | Sep 30, 2016 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 2 | Feb 19, 2014 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 4 | Aug 21, 2017 |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 3 | Oct 22, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 2 | Dec 1, 2016 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 4 | Mar 14, 2019 |
| Epilepsy, idiopathic generalized, susceptibility to, 18 | 1 | Sep 9, 2021 |
| Epilepsy, idiopathic generalized, susceptibility to, 6 | 2 | Dec 20, 2013 |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 1 | Feb 21, 2017 |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 | Sep 9, 2016 |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | 4 | Apr 5, 2018 |
| Epilepsy, juvenile myoclonic, susceptibility to, 6 | 1 | Mar 31, 2011 |
| Epilepsy, mitochondrial | 2 | May 22, 2017 |
| Epilepsy, progressive myoclonic, 11 | 3 | May 12, 2020 |
| Epilepsy, progressive myoclonic, 12 | 1 | Feb 24, 2021 |
| Epilepsy, progressive myoclonic, 1B | 3 | Sep 23, 2019 |
| Epilepsy, progressive myoclonic, 3, with intracellular inclusions | 2 | Feb 29, 2024 |
| Epiphyseal dysplasia, multiple, 1, severe | 2 | Jan 19, 2021 |
| Epiphyseal dysplasia, multiple, 2 | 4 | Dec 6, 2017 |
| Epiphyseal dysplasia, multiple, 3 | 2 | Dec 6, 2017 |
| Epiphyseal dysplasia, multiple, 3, with myopathy | 1 | Dec 6, 2017 |
| Epiphyseal dysplasia, multiple, 6 | 1 | Jul 13, 2017 |
| Epiphyseal dysplasia, multiple, 7 | 2 | Oct 16, 2017 |
| Episodic ataxia type 1 | 11 | May 18, 2021 |
| Episodic ataxia type 2 | 20 | Aug 24, 2020 |
| Episodic ataxia type 5 | 1 | Sep 9, 2016 |
| Episodic ataxia type 6 | 3 | Apr 2, 2018 |
| Episodic ataxia, type 2, and epilepsy | 1 | Aug 24, 2020 |
| Episodic ataxia, type 9 | 5 | Oct 19, 2020 |
| Episodic kinesigenic dyskinesia 1 | 7 | Feb 19, 2015 |
| Episodic kinesigenic dyskinesia 3 | 9 | Oct 4, 2023 |
| Episodic pain syndrome, familial, 2 | 2 | Jun 29, 2018 |
| Epithelial basement membrane dystrophy | 2 | Feb 7, 2020 |
| Epithelial recurrent erosion dystrophy | 2 | Oct 31, 2017 |
| Epsilon-trimethyllysine hydroxylase deficiency | 5 | Jul 27, 2016 |
| Erythrocyte AMP deaminase deficiency | 1 | Jun 23, 2009 |
| Erythrocytosis | 1 | Dec 12, 2017 |
| Erythrocytosis, familial, 3 | 3 | Sep 27, 2016 |
| Erythrocytosis, familial, 4 | 3 | Sep 5, 2019 |
| Erythrocytosis, familial, 5 | 2 | Mar 16, 2018 |
| Erythrocytosis, familial, 6 | 37 | May 21, 2018 |
| Erythrocytosis, familial, 7 | 15 | Nov 1, 2019 |
| Erythrokeratodermia variabilis et progressiva 1 | 5 | Jun 13, 2017 |
| Erythrokeratodermia variabilis et progressiva 2 | 6 | Jun 13, 2017 |
| Erythrokeratodermia variabilis et progressiva 3 | 2 | Jun 13, 2017 |
| Erythrokeratodermia variabilis et progressiva 4 | 4 | Jun 13, 2017 |
| Erythrokeratodermia variabilis et progressiva 5 | 1 | Mar 12, 2019 |
| Erythrokeratodermia variabilis et progressiva 6 | 2 | Aug 12, 2019 |
| Erythrokeratodermia variabilis et progressiva 7 | 2 | Feb 25, 2021 |
| Erythroleukemia, familial, susceptibility to | 1 | Aug 3, 2021 |
| Esophageal cancer, alcohol-related, susceptibility to | 1 | Feb 12, 2021 |
| Esophageal carcinoma, somatic | 1 | Sep 25, 2012 |
| Esophageal squamous cell carcinoma, somatic | 6 | Nov 8, 2010 |
| Essential fructosuria | 2 | Nov 25, 2015 |
| Essential hypertension | 1 | May 16, 2008 |
| Essential pentosuria | 2 | Mar 5, 2014 |
| Essential tremor, susceptibility to | 1 | Aug 31, 2012 |
| Estrogen receptor mutant, temperature-sensitive | 1 | Nov 13, 2017 |
| Estrogen resistance syndrome | 4 | Sep 27, 2019 |
| Ethylmalonic encephalopathy | 11 | Oct 21, 2024 |
| Euthyroid goiter | 5 | Nov 14, 2017 |
| Even-plus syndrome | 3 | Jul 12, 2017 |
| Exercise intolerance | 5 | Mar 18, 2022 |
| Exercise intolerance and complex III deficiency, somatic | 1 | Oct 17, 2005 |
| Exercise intolerance, cardiomyopathy, and septooptic dysplasia | 1 | Mar 18, 2022 |
| Exercise intolerance, muscle pain, and lactic acidemia | 1 | Jun 4, 2022 |
| Exercise intolerance, riboflavin-responsive | 2 | Oct 12, 2020 |
| Exercise stress response, impaired, association with | 1 | Sep 2, 2020 |
| Exercise-induced hyperinsulinism | 2 | Nov 19, 2014 |
| Exfoliation syndrome, susceptibility to | 3 | Mar 5, 2012 |
| Exfoliative ichthyosis | 1 | Sep 2, 2015 |
| Exostoses, multiple, type 1 | 11 | Nov 6, 2020 |
| Exostoses, multiple, type 2 | 9 | Nov 6, 2020 |
| Extraoral halitosis due to methanethiol oxidase deficiency | 4 | Oct 12, 2018 |
| Exudative vitreoretinopathy 1 | 5 | Nov 20, 2018 |
| Exudative vitreoretinopathy 2, X-linked | 4 | Mar 11, 2021 |
| Exudative vitreoretinopathy 4, autosomal dominant | 3 | May 11, 2021 |
| Exudative vitreoretinopathy 4, autosomal recessive | 5 | Jul 13, 2015 |
| Exudative vitreoretinopathy 4, digenic | 1 | Jul 13, 2015 |
| Exudative vitreoretinopathy 5 | 11 | Oct 21, 2016 |
| Exudative vitreoretinopathy 6 | 2 | Jan 7, 2019 |
| Exudative vitreoretinopathy 7 | 2 | Aug 15, 2017 |
| Exudative vitreoretinopathy, X-linked | 1 | Mar 11, 2021 |
| Exudative vitreoretinopathy, digenic | 1 | Nov 20, 2018 |
| Ezetimibe response | 2 | May 10, 2018 |
| FAAH POLYMORPHISM | 1 | Apr 3, 2019 |
| FACTOR IX POLYMORPHISM | 3 | Nov 12, 2012 |
| FACTOR IX, DNA POLYMORPHISM | 1 | Nov 12, 2012 |
| FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM | 1 | Jun 11, 2019 |
| FACTOR VIII (EAST HARTFORD) | 1 | Mar 27, 2018 |
| FACTOR VIII (OKAYAMA) | 1 | Sep 14, 2012 |
| FACTOR VIII POLYMORPHISM | 2 | Mar 27, 2018 |
| FACTOR XII (LOCARNO) | 1 | Nov 21, 2013 |
| FACTOR XII (WASHINGTON D.C.) | 1 | Aug 5, 2019 |
| FACTOR XII POLYMORPHISM | 1 | Aug 5, 2019 |
| FADD-related immunodeficiency | 3 | Nov 30, 2021 |
| FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO | 1 | Apr 1, 2019 |
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO | 1 | May 15, 2018 |
| FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF | 1 | Mar 28, 2008 |
| FATTY LIVER DISEASE, PROTECTION AGAINST | 1 | Nov 17, 2022 |
| FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 | 5 | Oct 4, 2024 |
| FG syndrome 1 | 1 | May 8, 2013 |
| FG syndrome 2 | 1 | Sep 19, 2016 |
| FG syndrome 4 | 9 | May 4, 2023 |
| FH LEIDEN 1 | 1 | Jun 19, 2019 |
| FIBRINOGEN AARHUS 1 | 1 | Dec 20, 2012 |
| FIBRINOGEN ASAHI | 1 | Sep 26, 2014 |
| FIBRINOGEN BALTIMORE 1 | 1 | Sep 26, 2014 |
| FIBRINOGEN BALTIMORE 2 | 1 | Oct 11, 2011 |
| FIBRINOGEN BALTIMORE 3 | 1 | Sep 26, 2014 |
| FIBRINOGEN CANTERBURY | 1 | Sep 29, 2014 |
| FIBRINOGEN CARACAS 2 | 1 | Sep 29, 2014 |
| FIBRINOGEN CHRISTCHURCH 2 | 1 | Mar 29, 2018 |
| FIBRINOGEN DETROIT 1 | 1 | Sep 29, 2014 |
| FIBRINOGEN DUSART | 1 | Nov 7, 2018 |
| FIBRINOGEN GIESSEN 4 | 1 | Oct 11, 2011 |
| FIBRINOGEN HAIFA 1 | 1 | Sep 19, 2014 |
| FIBRINOGEN HILLSBOROUGH | 1 | Sep 26, 2014 |
| FIBRINOGEN ISE | 1 | Sep 29, 2014 |
| FIBRINOGEN KEOKUK | 1 | Oct 7, 2016 |
| FIBRINOGEN KYOTO 1 | 1 | Sep 26, 2014 |
| FIBRINOGEN KYOTO 2 | 1 | Sep 29, 2014 |
| FIBRINOGEN KYOTO 3 | 1 | Oct 11, 2011 |
| FIBRINOGEN LILLE 1 | 1 | Dec 20, 2012 |
| FIBRINOGEN LIMA | 1 | Sep 29, 2014 |
| FIBRINOGEN LONGMONT | 1 | Mar 29, 2018 |
| FIBRINOGEN MARBURG | 1 | Nov 7, 2018 |
| FIBRINOGEN MATSUMOTO 1 | 1 | Sep 26, 2014 |
| FIBRINOGEN MILANO 1 | 1 | Sep 26, 2014 |
| FIBRINOGEN MUNICH 1 | 1 | Sep 30, 2014 |
| FIBRINOGEN NAGOYA 1 | 1 | Oct 11, 2011 |
| FIBRINOGEN NAPLES | 1 | Sep 29, 2014 |
| FIBRINOGEN NEW YORK 1 | 1 | Mar 29, 2018 |
| FIBRINOGEN NIEUWEGEIN | 1 | Sep 29, 2014 |
| FIBRINOGEN NIJMEGEN | 1 | Mar 29, 2018 |
| FIBRINOGEN OSAKA 5 | 1 | Sep 26, 2014 |
| FIBRINOGEN OSLO III | 1 | Jul 15, 2016 |
| FIBRINOGEN PARIS 1 | 1 | Sep 26, 2014 |
| FIBRINOGEN PONTOISE 2 | 1 | Oct 11, 2011 |
| FIBRINOGEN ROUEN 1 | 1 | Dec 20, 2012 |
| FIBRINOGEN TOKYO 2 | 1 | Sep 26, 2014 |
| FIBRINOGEN VLISSINGEN 1 | 1 | Sep 26, 2014 |
| FIBRINOGEN, BETA-148 POLYMORPHISM | 1 | Sep 29, 2014 |
| FIBRINOGEN-BETA POLYMORPHISM | 1 | Mar 29, 2018 |
| FIBROMATOSIS, GINGIVAL, 6 | 1 | Oct 30, 2024 |
| FMO3 activity, decreased | 1 | Mar 26, 2017 |
| FNB1 POLYMORPHISM | 1 | Dec 7, 2016 |
| FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING | 1 | May 18, 2015 |
| FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | 2 | May 18, 2015 |
| FOVEAL HYPOPLASIA 3 | 2 | Sep 23, 2024 |
| FRAXE | 2 | Apr 14, 2021 |
| FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | 3 | Mar 12, 2018 |
| FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES | 1 | Dec 23, 2020 |
| FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO | 1 | Aug 12, 2016 |
| FU1/FU2 POLYMORPHISM | 1 | Apr 21, 2011 |
| Fabry disease | 57 | Sep 9, 2021 |
| Fabry disease, cardiac variant | 7 | Sep 9, 2021 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 2 | May 30, 2019 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 1 | Feb 21, 2019 |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 5 | Jul 20, 2022 |
| Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | 1 | Oct 25, 2017 |
| Facial paresis, hereditary congenital, 3 | 3 | Mar 6, 2018 |
| Facioscapulohumeral muscular dystrophy 2 | 11 | Aug 3, 2021 |
| Facioscapulohumeral muscular dystrophy 3, digenic | 1 | Aug 16, 2021 |
| Facioscapulohumeral muscular dystrophy 4, digenic | 2 | Aug 20, 2021 |
| Factor 5 and Factor VIII, combined deficiency of, 2 | 8 | Nov 4, 2010 |
| Factor B fast/slow polymorphism | 2 | Oct 30, 2017 |
| Factor H deficiency | 7 | Jun 11, 2019 |
| Factor I deficiency | 4 | Mar 30, 2021 |
| Factor V Hong Kong | 1 | Aug 17, 2017 |
| Factor V and factor VIII, combined deficiency of, type 1 | 5 | Dec 7, 2021 |
| Factor V deficiency | 9 | Feb 11, 2019 |
| Factor VII Padua | 1 | Aug 2, 2012 |
| Factor VII deficiency | 21 | Jul 20, 2016 |
| Factor X deficiency | 14 | Jul 20, 2016 |
| Factor XII deficiency disease | 2 | Aug 5, 2019 |
| Factor XIII, A subunit, deficiency of | 19 | May 10, 2017 |
| Factor XIII, b subunit, deficiency of | 4 | Sep 16, 2015 |
| Factor x deficiency, autosomal dominant | 1 | Jul 20, 2016 |
| Familial Mediterranean fever | 18 | May 10, 2021 |
| Familial Mediterranean fever, autosomal dominant | 3 | Mar 3, 2021 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 12 | Jun 23, 2023 |
| Familial acute necrotizing encephalopathy | 3 | May 31, 2019 |
| Familial adenomatous polyposis 1 | 30 | Oct 20, 2016 |
| Familial adenomatous polyposis 2 | 7 | Jan 31, 2020 |
| Familial adenomatous polyposis 3 | 2 | Aug 11, 2016 |
| Familial adenomatous polyposis 4 | 4 | Sep 1, 2016 |
| Familial amyloid nephropathy with urticaria AND deafness | 4 | Oct 15, 2018 |
| Familial amyloid polyneuropathy, Iowa type | 8 | Aug 19, 2019 |
| Familial aplasia of the vermis | 2 | Feb 16, 2017 |
| Familial apolipoprotein C-II deficiency | 9 | Jul 8, 2008 |
| Familial atrial myxoma | 1 | Apr 29, 2019 |
| Familial benign flecked retina | 5 | Aug 14, 2015 |
| Familial benign pemphigus | 9 | Jun 4, 2022 |
| Familial cancer of breast | 3 | Aug 16, 2018 |
| Familial cavitary optic disk anomaly | 1 | Aug 4, 2016 |
| Familial chronic mucocutaneous candidiasis | 1 | Mar 14, 2013 |
| Familial cold autoinflammatory syndrome 1 | 5 | Nov 28, 2017 |
| Familial cold autoinflammatory syndrome 2 | 5 | May 15, 2018 |
| Familial cold autoinflammatory syndrome 3 | 3 | Mar 24, 2020 |
| Familial cold autoinflammatory syndrome 4 | 1 | Apr 7, 2021 |
| Familial colorectal cancer | 10 | Sep 17, 2018 |
| Familial congenital nasolacrimal duct obstruction | 1 | Feb 4, 2015 |
| Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 1 | Feb 21, 2020 |
| Familial cylindromatosis | 6 | Aug 21, 2017 |
| Familial digital arthropathy-brachydactyly | 3 | Sep 7, 2021 |
| Familial dysautonomia | 3 | Feb 12, 2020 |
| Familial encephalopathy with neuroserpin inclusion bodies | 5 | May 17, 2016 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 4 | Jul 28, 2017 |
| Familial episodic pain syndrome with predominantly upper body involvement | 1 | Feb 28, 2022 |
| Familial expansile osteolysis | 2 | Sep 5, 2018 |
| Familial gestational hyperthyroidism | 1 | Aug 24, 2021 |
| Familial hemophagocytic lymphohistiocytosis 2 | 13 | May 31, 2018 |
| Familial hemophagocytic lymphohistiocytosis 3 | 8 | Jul 19, 2017 |
| Familial hemophagocytic lymphohistiocytosis 4 | 4 | Aug 12, 2021 |
| Familial hemophagocytic lymphohistiocytosis 5 | 6 | Nov 12, 2021 |
| Familial hyperaldosteronism type II | 6 | May 6, 2021 |
| Familial hyperaldosteronism type III | 5 | Apr 25, 2017 |
| Familial hyperkalemic periodic paralysis | 2 | Sep 1, 2020 |
| Familial hyperprolactinemia | 3 | Jan 8, 2019 |
| Familial hyperthyroidism due to mutations in TSH receptor | 9 | Aug 24, 2021 |
| Familial hypertrophic cardiomyopathy 22 | 2 | Nov 4, 2016 |
| Familial hypertrophic cardiomyopathy 24 | 2 | Oct 10, 2017 |
| Familial hypertryptophanemia | 2 | Oct 4, 2017 |
| Familial hypobetalipoproteinemia | 16 | Jun 19, 2019 |
| Familial hypobetalipoproteinemia 1 | 3 | Jun 19, 2019 |
| Familial hypobetalipoproteinemia 2 | 7 | Jul 2, 2018 |
| Familial hypocalciuric hypercalcemia 1 | 21 | Sep 24, 2019 |
| Familial hypocalciuric hypercalcemia 2 | 3 | Sep 22, 2021 |
| Familial hypocalciuric hypercalcemia 3 | 3 | Oct 14, 2021 |
| Familial hypodysfibrinogenemia | 1 | Oct 7, 2016 |
| Familial hypokalemia-hypomagnesemia | 15 | Mar 11, 2014 |
| Familial idiopathic hypercalciuria | 2 | Dec 20, 2016 |
| Familial infantile myasthenia | 11 | Apr 27, 2015 |
| Familial infantile myoclonic epilepsy | 3 | Apr 4, 2019 |
| Familial isolated congenital asplenia | 8 | May 8, 2019 |
| Familial juvenile hyperuricemic nephropathy type 1 | 16 | Feb 9, 2021 |
| Familial juvenile hyperuricemic nephropathy type 2 | 2 | Feb 22, 2022 |
| Familial medullary thyroid carcinoma | 15 | Aug 18, 2021 |
| Familial meningioma | 5 | Nov 7, 2017 |
| Familial multiple trichoepitheliomata | 4 | Aug 21, 2017 |
| Familial partial lipodystrophy, Dunnigan type | 12 | Mar 11, 2022 |
| Familial porphyria cutanea tarda | 7 | Sep 6, 2018 |
| Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome | 1 | Sep 30, 2021 |
| Familial pseudohyperkalemia | 3 | Dec 4, 2015 |
| Familial pulmonary capillary hemangiomatosis | 10 | Jun 7, 2017 |
| Familial renal glucosuria | 7 | Aug 24, 2020 |
| Familial scaphocephaly syndrome, McGillivray type | 1 | Aug 9, 2018 |
| Familial spontaneous pneumothorax | 7 | Oct 19, 2016 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 9 | Jan 4, 2021 |
| Familial temporal lobe epilepsy 5 | 3 | Mar 10, 2017 |
| Familial temporal lobe epilepsy 7 | 4 | Nov 20, 2018 |
| Familial temporal lobe epilepsy 8 | 1 | Jul 10, 2015 |
| Familial type 3 hyperlipoproteinemia | 14 | Nov 22, 2019 |
| Familial type 5 hyperlipoproteinemia | 1 | Oct 18, 2016 |
| Familial visceral amyloidosis, Ostertag type | 7 | Aug 5, 2016 |
| Fanconi anemia complementation group A | 15 | Jan 11, 2022 |
| Fanconi anemia complementation group B | 7 | Dec 6, 2019 |
| Fanconi anemia complementation group C | 10 | Nov 7, 2019 |
| Fanconi anemia complementation group D1 | 15 | Nov 28, 2017 |
| Fanconi anemia complementation group D2 | 5 | Oct 24, 2012 |
| Fanconi anemia complementation group E | 3 | Apr 19, 2019 |
| Fanconi anemia complementation group F | 8 | Jun 21, 2021 |
| Fanconi anemia complementation group G | 8 | Apr 19, 2019 |
| Fanconi anemia complementation group I | 4 | Oct 6, 2016 |
| Fanconi anemia complementation group J | 2 | Apr 19, 2019 |
| Fanconi anemia complementation group L | 5 | Dec 6, 2019 |
| Fanconi anemia complementation group N | 5 | Apr 19, 2019 |
| Fanconi anemia complementation group O | 1 | Aug 21, 2019 |
| Fanconi anemia complementation group P | 6 | Apr 19, 2019 |
| Fanconi anemia complementation group Q | 4 | Apr 19, 2019 |
| Fanconi anemia complementation group R | 2 | Aug 7, 2020 |
| Fanconi anemia complementation group T | 2 | Jun 26, 2015 |
| Fanconi anemia complementation group U | 1 | Dec 9, 2016 |
| Fanconi anemia complementation group V | 1 | Jan 25, 2018 |
| Fanconi anemia, complementation group M | 2 | Aug 13, 2018 |
| Fanconi anemia, complementation group S | 7 | Oct 6, 2021 |
| Fanconi anemia, complementation group W | 2 | Nov 28, 2017 |
| Fanconi renotubular syndrome 1 | 4 | Jun 11, 2020 |
| Fanconi renotubular syndrome 2 | 1 | May 24, 2017 |
| Fanconi renotubular syndrome 3 | 1 | Jan 17, 2014 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Jul 21, 2016 |
| Fanconi renotubular syndrome 5 | 1 | Jun 16, 2020 |
| Fanconi-Bickel syndrome | 13 | Sep 2, 2020 |
| Farber lipogranulomatosis | 10 | Oct 4, 2021 |
| Fasting plasma glucose level quantitative trait locus 5 | 1 | Oct 5, 2011 |
| Fatal familial insomnia | 2 | Feb 19, 2018 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 4 | Jun 11, 2015 |
| Fatty acyl-CoA reductase 1 deficiency | 3 | May 20, 2021 |
| Faundes-Banka syndrome | 4 | Jun 9, 2021 |
| Febrile seizures, familial, 11 | 1 | Mar 10, 2017 |
| Febrile seizures, familial, 2 | 5 | Sep 9, 2021 |
| Febrile seizures, familial, 3a | 2 | Dec 15, 2017 |
| Febrile seizures, familial, 3b | 2 | Feb 8, 2021 |
| Febrile seizures, familial, 4 | 1 | Sep 7, 2021 |
| Febrile seizures, familial, 8 | 5 | May 23, 2019 |
| Feingold syndrome type 1 | 7 | Dec 22, 2017 |
| Female infertility due to zona pellucida defect | 4 | Aug 3, 2021 |
| Ferguson-Bonni neurodevelopmental syndrome | 1 | Jan 14, 2022 |
| Fetal akinesia deformation sequence 1 | 2 | Apr 11, 2019 |
| Fetal akinesia deformation sequence 2 | 3 | Apr 12, 2019 |
| Fetal akinesia deformation sequence 3 | 2 | Apr 11, 2020 |
| Fetal akinesia deformation sequence 4 | 3 | Apr 16, 2019 |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 4 | Nov 10, 2021 |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | 1 | Aug 25, 2020 |
| Fetal hemoglobin, a-gamma type, reduction in | 1 | Dec 11, 2017 |
| Fibrinogen Milano XII, digenic | 1 | Oct 11, 2011 |
| Fibrochondrogenesis | 4 | Aug 12, 2019 |
| Fibrochondrogenesis 2 | 2 | May 17, 2017 |
| Fibromatosis, gingival, 1 | 2 | Oct 31, 2024 |
| Fibromatosis, gingival, 5 | 4 | Oct 31, 2024 |
| Fibromuscular dysplasia, multifocal | 1 | May 18, 2021 |
| Fibrosis of extraocular muscles, congenital, 2 | 3 | Jul 13, 2021 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 5 | Sep 22, 2016 |
| Fibrosis of extraocular muscles, congenital, 3b | 3 | Aug 10, 2012 |
| Fibrosis of extraocular muscles, congenital, 5 | 3 | Feb 12, 2015 |
| Fibrosis, neurodegeneration, and cerebral angiomatosis | 9 | Jun 20, 2023 |
| Fibrous dysplasia of jaw | 7 | Dec 14, 2007 |
| Filippi syndrome | 6 | May 15, 2015 |
| Finnish congenital nephrotic syndrome | 10 | Sep 10, 2013 |
| Finnish type amyloidosis | 4 | Aug 23, 2023 |
| Finnish upper limb-onset distal myopathy | 1 | Aug 14, 2023 |
| Fish-eye disease | 6 | Jun 11, 2019 |
| Fleck corneal dystrophy | 5 | Oct 5, 2016 |
| Fliedner-Zweier syndrome | 4 | Sep 15, 2023 |
| Floating-Harbor syndrome | 7 | Nov 8, 2021 |
| Fluorouracil response | 2 | Dec 22, 2017 |
| Focal cortical dysplasia of Taylor type 2B | 1 | Jan 7, 2016 |
| Focal dermal hypoplasia | 5 | Aug 23, 2016 |
| Focal facial dermal dysplasia type III | 3 | Aug 10, 2015 |
| Focal facial dermal dysplasia type IV | 1 | Dec 18, 2019 |
| Focal palmoplantar keratoderma | 2 | Apr 10, 2014 |
| Focal segmental glomerulosclerosis | 2 | Nov 7, 2013 |
| Focal segmental glomerulosclerosis 1 | 4 | Feb 8, 2017 |
| Focal segmental glomerulosclerosis 2 | 6 | Jan 29, 2010 |
| Focal segmental glomerulosclerosis 3 | 2 | Sep 30, 2019 |
| Focal segmental glomerulosclerosis 4, susceptibility to | 2 | Oct 25, 2010 |
| Focal segmental glomerulosclerosis 5 | 5 | Feb 26, 2013 |
| Focal segmental glomerulosclerosis 6 | 2 | Jul 29, 2011 |
| Focal segmental glomerulosclerosis 7 | 2 | Nov 7, 2018 |
| Focal segmental glomerulosclerosis 8 | 2 | May 11, 2017 |
| Focal segmental glomerulosclerosis 9 | 5 | Feb 13, 2015 |
| Focal segmental glomerulosclerosis and dilated cardiomyopathy | 1 | Oct 17, 2005 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 8 | Aug 4, 2021 |
| Follicular lymphoma | 6 | Sep 26, 2016 |
| Fontaine progeroid syndrome | 2 | Jan 26, 2018 |
| Forebrain defects | 1 | Apr 22, 2013 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 2 | May 18, 2015 |
| Foveal hypoplasia 1 | 2 | Sep 26, 2016 |
| Foveal hypoplasia 1 with cataract | 1 | Sep 26, 2016 |
| Foveal hypoplasia 1 with or without anterior segment anomalies | 1 | Jan 26, 2017 |
| Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis | 2 | May 18, 2015 |
| Fowler syndrome | 9 | Dec 14, 2021 |
| Fragile X syndrome | 5 | Dec 23, 2019 |
| Fragile X-associated tremor/ataxia syndrome | 1 | Dec 23, 2019 |
| Frank-Ter Haar syndrome | 6 | Apr 8, 2021 |
| Fraser syndrome 1 | 8 | Sep 13, 2017 |
| Fraser syndrome 2 | 4 | Dec 18, 2019 |
| Fraser syndrome 3 | 2 | Aug 27, 2021 |
| Frasier syndrome | 5 | Oct 18, 2016 |
| Freeman-Sheldon syndrome | 4 | May 20, 2019 |
| Friedreich ataxia | 8 | Dec 11, 2019 |
| Friedreich ataxia 1 | 1 | Sep 23, 2016 |
| Friedreich ataxia with retained reflexes | 1 | Dec 11, 2019 |
| Frontometaphyseal dysplasia 1 | 2 | Jan 5, 2018 |
| Frontometaphyseal dysplasia 2 | 4 | Feb 4, 2022 |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 2 | Mar 16, 2020 |
| Frontonasal dysplasia with alopecia and genital anomaly | 3 | Aug 3, 2020 |
| Frontorhiny | 7 | May 11, 2018 |
| Frontotemporal dementia | 18 | May 6, 2021 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 1 | Oct 31, 2019 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Oct 25, 2016 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 4 | May 18, 2017 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 8 | Aug 1, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | 4 | Jan 6, 2021 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 5 | Dec 23, 2020 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 6 | Jan 7, 2021 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 | 1 | May 5, 2021 |
| Fructose-biphosphatase deficiency | 6 | Mar 9, 2020 |
| Fucosidosis | 11 | Jul 23, 2019 |
| Fucosyltransferase 6 deficiency | 1 | Dec 20, 2012 |
| Fuhrmann syndrome | 1 | Mar 15, 2013 |
| Fumarase deficiency | 8 | Nov 18, 2022 |
| Fumarylacetoacetase pseudodeficiency | 1 | Jun 15, 2015 |
| Fundus albipunctatus, autosomal recessive | 8 | Sep 19, 2016 |
| G6PD A+ | 1 | May 11, 2018 |
| G6PD AGRIGENTO | 1 | May 24, 2017 |
| G6PD ALHAMBRA | 1 | May 24, 2017 |
| G6PD ANAHEIM | 1 | May 24, 2017 |
| G6PD ANANT | 1 | May 24, 2017 |
| G6PD ANDALUS | 1 | May 24, 2017 |
| G6PD ASAHI | 1 | Oct 24, 2013 |
| G6PD AURES | 1 | Apr 18, 2013 |
| G6PD AVEIRO | 1 | Dec 9, 2013 |
| G6PD BEVERLY HILLS | 1 | Apr 18, 2013 |
| G6PD CAGLIARI | 1 | May 11, 2018 |
| G6PD CANTON | 1 | May 24, 2017 |
| G6PD CHATHAM | 1 | May 24, 2017 |
| G6PD COIMBRA | 1 | May 24, 2017 |
| G6PD COSENZA | 1 | May 24, 2017 |
| G6PD DHON | 1 | May 24, 2017 |
| G6PD GAOHE | 1 | May 24, 2017 |
| G6PD GASTONIA | 1 | May 24, 2017 |
| G6PD GIFU | 1 | May 24, 2017 |
| G6PD GUADALAJARA | 1 | May 24, 2017 |
| G6PD HARILAOU | 1 | Apr 18, 2013 |
| G6PD IERAPETRA | 1 | May 24, 2017 |
| G6PD ILESHA | 1 | May 24, 2017 |
| G6PD IOWA | 1 | May 24, 2017 |
| G6PD IOWA CITY | 1 | May 24, 2017 |
| G6PD JAMMU | 1 | May 24, 2017 |
| G6PD JAPAN | 1 | May 24, 2017 |
| G6PD KAIPING | 1 | May 24, 2017 |
| G6PD KALYAN | 1 | Apr 18, 2013 |
| G6PD KERALA | 1 | Apr 18, 2013 |
| G6PD KERALA-KALYAN | 1 | Apr 18, 2013 |
| G6PD LOMA LINDA | 1 | May 24, 2017 |
| G6PD MAHIDOL | 1 | May 24, 2017 |
| G6PD MAHIDOL-LIKE | 1 | Apr 18, 2013 |
| G6PD MALAGA | 1 | May 24, 2017 |
| G6PD MARION | 1 | May 24, 2017 |
| G6PD MEDITERRANEAN | 1 | May 11, 2018 |
| G6PD METAPONTO | 1 | May 24, 2017 |
| G6PD MEXICO CITY | 1 | May 24, 2017 |
| G6PD MINNESOTA | 1 | May 24, 2017 |
| G6PD MODENA | 1 | May 24, 2017 |
| G6PD NAMORU | 1 | Jul 28, 2016 |
| G6PD NANKANG | 1 | Apr 18, 2013 |
| G6PD NASHVILLE | 1 | May 24, 2017 |
| G6PD NEAPOLIS | 1 | Jul 28, 2016 |
| G6PD NILGIRI | 1 | May 24, 2017 |
| G6PD ORISSA | 1 | Apr 18, 2013 |
| G6PD PAWNEE | 1 | May 24, 2017 |
| G6PD PETRICH-LIKE | 1 | May 24, 2017 |
| G6PD PORTICI | 1 | Oct 24, 2013 |
| G6PD PUERTO LIMON | 1 | May 24, 2017 |
| G6PD QUING YUAN | 1 | Apr 18, 2013 |
| G6PD REHOVOT | 1 | Jul 28, 2016 |
| G6PD RIVERSIDE | 1 | Apr 18, 2013 |
| G6PD SANTAMARIA | 1 | May 24, 2017 |
| G6PD SANTIAGO | 1 | May 24, 2017 |
| G6PD SANTIAGO DE CUBA | 1 | May 24, 2017 |
| G6PD SAPPORO-LIKE | 1 | May 24, 2017 |
| G6PD SASSARI | 1 | May 11, 2018 |
| G6PD SEATTLE-LIKE | 1 | May 24, 2017 |
| G6PD SERRES | 1 | May 24, 2017 |
| G6PD SPLIT | 1 | Jul 28, 2016 |
| G6PD SPRINGFIELD | 1 | May 24, 2017 |
| G6PD SUNDERLAND | 1 | Oct 24, 2013 |
| G6PD TAIWAN-HAKKA | 1 | May 24, 2017 |
| G6PD TAIWAN-HAKKA 2 | 1 | Apr 18, 2013 |
| G6PD TOMAH | 1 | Apr 18, 2013 |
| G6PD VARNSDORF | 1 | Apr 18, 2013 |
| G6PD VIANGCHAN | 1 | May 24, 2017 |
| G6PD WALTER REED | 1 | May 24, 2017 |
| G6PD ZURICH | 1 | Jul 28, 2016 |
| G6PD deficiency | 7 | May 24, 2017 |
| GALT POLYMORPHISM | 1 | Oct 4, 2012 |
| GALT POLYMORPHISM (DUARTE, D2) | 1 | Mar 19, 2019 |
| GALT POLYMORPHISM (LOS ANGELES, D1) | 1 | Mar 19, 2019 |
| GAPO syndrome | 6 | Dec 14, 2018 |
| GC1/GC2 POLYMORPHISM | 3 | Nov 4, 2019 |
| GCGR-related hyperglucagonemia | 8 | Apr 23, 2021 |
| GHRELIN POLYMORPHISM | 1 | Jun 3, 2019 |
| GIL BLOOD GROUP | 1 | Jan 7, 2010 |
| GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY | 3 | Oct 11, 2016 |
| GLUCOCORTICOID RECEPTOR POLYMORPHISM | 1 | Aug 15, 2016 |
| GLUT1 deficiency syndrome 1, autosomal recessive | 3 | Mar 25, 2017 |
| GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM | 1 | Jan 9, 2012 |
| GLUTATHIONE PEROXIDASE POLYMORPHISM | 1 | Nov 3, 2011 |
| GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE A | 1 | Jul 27, 2012 |
| GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE B | 1 | Jul 27, 2012 |
| GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE C | 1 | Jul 27, 2012 |
| GLYCEROL QUANTITATIVE TRAIT LOCUS | 1 | Jan 21, 2022 |
| GLYCOGEN STORAGE DISEASE II, ADULT FORM | 7 | Sep 28, 2021 |
| GM1 gangliosidosis type 2 | 2 | Nov 9, 2021 |
| GM1 gangliosidosis type 3 | 4 | Nov 9, 2021 |
| GM1-gangliosidosis, type I, with cardiac involvement | 5 | May 4, 2021 |
| GM2-gangliosidosis, adult-onset | 1 | Sep 9, 2021 |
| GM3 synthase deficiency | 4 | Apr 23, 2020 |
| GMP REDUCTASE POLYMORPHISM | 1 | Nov 4, 2020 |
| GNB3 POLYMORPHISM | 1 | Jul 11, 2016 |
| GNE myopathy | 13 | Dec 1, 2016 |
| GNPTG-mucolipidosis | 9 | Aug 12, 2015 |
| GRACILE syndrome | 1 | Jan 17, 2017 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 15 | Feb 12, 2021 |
| GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | 2 | May 20, 2011 |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 2 | Aug 4, 2016 |
| Gabriele de Vries syndrome | 5 | Aug 17, 2018 |
| Galactosemia 4 | 5 | May 14, 2020 |
| Galactosemia III, severe | 1 | Apr 27, 2020 |
| Galactosialidosis, adult | 1 | Jun 25, 2021 |
| Galactosialidosis, early infantile | 3 | Jun 25, 2021 |
| Galactosialidosis, late infantile | 6 | Jun 25, 2021 |
| Galactosylceramide beta-galactosidase deficiency | 10 | Oct 22, 2021 |
| Gallbladder disease 4 | 1 | Aug 20, 2019 |
| Galloway-Mowat syndrome 1 | 10 | Oct 27, 2017 |
| Galloway-Mowat syndrome 10 | 4 | Nov 10, 2021 |
| Galloway-Mowat syndrome 2, X-linked | 3 | Oct 25, 2017 |
| Galloway-Mowat syndrome 3 | 8 | Oct 30, 2017 |
| Galloway-Mowat syndrome 4 | 4 | Oct 27, 2017 |
| Galloway-Mowat syndrome 5 | 2 | Oct 27, 2017 |
| Galloway-Mowat syndrome 6 | 5 | Mar 8, 2019 |
| Galloway-Mowat syndrome 7 | 2 | Jun 24, 2021 |
| Galloway-Mowat syndrome 8 | 1 | May 20, 2019 |
| Galloway-Mowat syndrome 9 | 2 | Nov 9, 2021 |
| Gamma-aminobutyric acid transaminase deficiency | 8 | Oct 18, 2017 |
| Gamma-glutamylcysteine synthetase deficiency | 2 | Oct 17, 2024 |
| Gardner syndrome | 10 | Dec 18, 2020 |
| Garg-Mishra progeroid syndrome | 2 | Nov 13, 2023 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 3 | Feb 23, 2021 |
| Gastric cancer | 15 | Mar 9, 2022 |
| Gastric cancer susceptibility after h. pylori infection | 2 | Nov 4, 2021 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 18 | Jul 1, 2022 |
| Gastrointestinal defects and immunodeficiency syndrome 2 | 1 | Jan 24, 2022 |
| Gastrointestinal stromal tumor | 14 | Jul 17, 2019 |
| Gastrointestinal stromal tumor, familial | 3 | Jul 12, 2018 |
| Gaucher disease due to saposin C deficiency | 5 | Oct 26, 2021 |
| Gaucher disease perinatal lethal | 12 | May 13, 2020 |
| Gaucher disease type I | 33 | Sep 4, 2020 |
| Gaucher disease type II | 11 | Sep 4, 2020 |
| Gaucher disease type III | 12 | Sep 4, 2020 |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 | May 13, 2020 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 14 | Apr 2, 2019 |
| Gaze palsy, familial horizontal, with progressive scoliosis, 2 | 2 | Apr 2, 2019 |
| Gelatinous droplike corneal dystrophy | 8 | May 11, 2011 |
| Geleophysic dysplasia 1 | 8 | Mar 27, 2019 |
| Geleophysic dysplasia 2 | 4 | Jan 4, 2018 |
| Geleophysic dysplasia 3 | 3 | Jan 4, 2018 |
| Generalized dominant dystrophic epidermolysis bullosa | 7 | Jun 3, 2022 |
| Generalized epilepsy with febrile seizures plus 3 | 1 | Nov 25, 2020 |
| Generalized epilepsy with febrile seizures plus type 5 | 2 | Jan 22, 2020 |
| Generalized epilepsy with febrile seizures plus, type 1 | 2 | Oct 9, 2020 |
| Generalized epilepsy with febrile seizures plus, type 10 | 6 | Jun 25, 2019 |
| Generalized epilepsy with febrile seizures plus, type 12 | 4 | Mar 14, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 11 | Oct 9, 2020 |
| Generalized epilepsy with febrile seizures plus, type 7 | 2 | Feb 8, 2021 |
| Generalized epilepsy with febrile seizures plus, type 9 | 5 | Mar 17, 2015 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 3 | Aug 30, 2017 |
| Generalized resistance to thyroid hormone | 6 | Mar 29, 2012 |
| Genitopatellar syndrome | 6 | Aug 18, 2020 |
| Genitourinary and/or brain malformation syndrome | 3 | Mar 19, 2020 |
| Germ cell tumor of testis | 1 | Jun 25, 2018 |
| Geroderma osteodysplastica | 6 | Nov 25, 2015 |
| Gerstmann-Straussler-Scheinker syndrome | 12 | Nov 4, 2019 |
| Ghosal hematodiaphyseal dysplasia | 4 | Feb 7, 2020 |
| Giant axonal neuropathy 1 | 9 | Aug 16, 2019 |
| Giant axonal neuropathy 2 | 1 | Jun 6, 2014 |
| Gilbert syndrome | 5 | Jan 3, 2018 |
| Gilbert syndrome, susceptibility to | 1 | Dec 11, 2017 |
| Gillespie syndrome | 10 | Apr 18, 2018 |
| Gillessen-Kaesbach-Nishimura syndrome | 1 | Mar 27, 2017 |
| Gingival fibromatosis-hypertrichosis syndrome | 1 | Jul 8, 2014 |
| Glanzmann thrombasthenia 1 | 14 | Apr 13, 2021 |
| Glanzmann thrombasthenia 2 | 13 | Aug 4, 2016 |
| Glaucoma 1, open angle, A | 15 | Nov 7, 2018 |
| Glaucoma 1, open angle, E | 4 | Jan 6, 2021 |
| Glaucoma 1, open angle, F | 4 | Jun 11, 2013 |
| Glaucoma 1, open angle, G | 4 | Sep 23, 2014 |
| Glaucoma 1, open angle, H | 3 | Mar 8, 2024 |
| Glaucoma 1, open angle, O | 3 | Dec 2, 2016 |
| Glaucoma 1, open angle, a, digenic | 1 | Sep 19, 2016 |
| Glaucoma 3, primary congenital, D | 6 | Dec 12, 2017 |
| Glaucoma 3, primary congenital, E | 2 | Mar 6, 2018 |
| Glaucoma 3, primary congenital, a, digenic | 1 | Sep 19, 2016 |
| Glaucoma 3A | 15 | Jul 21, 2021 |
| Glaucoma, early-onset, digenic | 1 | Jul 21, 2021 |
| Glaucoma, normal tension, susceptibility to | 2 | Jan 6, 2021 |
| Glaucoma, primary closed-angle | 3 | May 11, 2020 |
| Glaucoma, primary open angle, juvenile-onset | 3 | May 26, 2021 |
| Glioblastoma multiforme, somatic | 1 | Oct 20, 2014 |
| Glioma susceptibility 1 | 3 | Sep 27, 2016 |
| Glioma susceptibility 2 | 1 | Jan 29, 2018 |
| Glioma susceptibility 3 | 2 | Nov 28, 2017 |
| Glioma susceptibility 7 | 1 | Oct 20, 2022 |
| Glipizide response | 1 | Jun 15, 2012 |
| Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 2 | Jan 8, 2019 |
| Global developmental delay with or without impaired intellectual development | 6 | Feb 19, 2019 |
| Global developmental delay with speech and behavioral abnormalities | 6 | Mar 26, 2021 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 4 | Dec 20, 2016 |
| Global developmental delay, progressive ataxia, and elevated glutamine | 3 | Nov 25, 2020 |
| Globozoospermia | 1 | May 4, 2015 |
| Glomerulopathy with fibronectin deposits 2 | 3 | Oct 1, 2021 |
| Glomuvenous malformation | 4 | Feb 23, 2016 |
| Glucocorticoid deficiency 1 | 10 | Jul 15, 2015 |
| Glucocorticoid deficiency 2 | 8 | Jul 11, 2007 |
| Glucocorticoid deficiency 4 | 9 | Oct 11, 2016 |
| Glucocorticoid deficiency 5 | 1 | Dec 22, 2017 |
| Glucocorticoid deficiency with achalasia | 9 | Sep 23, 2021 |
| Glucocorticoid resistance | 8 | Sep 10, 2021 |
| Glucocorticoid resistance, cellular | 1 | Feb 19, 2016 |
| Glucocorticoid resistance, relative | 1 | Aug 15, 2016 |
| Glucocorticoid therapy, response to | 1 | Dec 20, 2011 |
| Glucocorticoid-remediable aldosteronism | 1 | Jul 1, 2009 |
| Glucose-6-phosphate transport defect | 13 | Nov 4, 2020 |
| Glutamate formiminotransferase deficiency | 6 | Jul 4, 2020 |
| Glutamate pyruvate transaminase 2 deficiency | 9 | Nov 7, 2020 |
| Glutaric acidemia IIa | 5 | Jul 27, 2011 |
| Glutaric acidemia IIb | 3 | Jun 9, 2015 |
| Glutaric acidemia IIc | 6 | Jul 16, 2021 |
| Glutaric acidemia iic, late-onset | 4 | Jul 16, 2021 |
| Glutaric aciduria, type 1 | 9 | Jan 7, 2022 |
| Glutaryl-CoA oxidase deficiency | 3 | Aug 10, 2017 |
| Glutathione synthetase deficiency with 5-oxoprolinuria | 6 | Aug 17, 2015 |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 1 | Aug 17, 2015 |
| Glycemia variation | 1 | Oct 1, 2009 |
| Glycine N-methyltransferase deficiency | 3 | Jan 6, 2016 |
| Glycine encephalopathy 1 | 10 | Jul 24, 2019 |
| Glycine encephalopathy 2 | 9 | Jul 18, 2017 |
| Glycogen storage disease IIIa | 9 | Sep 18, 2020 |
| Glycogen storage disease IIIb | 6 | Sep 18, 2020 |
| Glycogen storage disease IIIc | 1 | Sep 18, 2020 |
| Glycogen storage disease IV, classic hepatic | 3 | Apr 26, 2017 |
| Glycogen storage disease IV, combined hepatic and myopathic | 2 | Apr 26, 2017 |
| Glycogen storage disease IV, nonprogressive hepatic | 2 | Apr 26, 2017 |
| Glycogen storage disease IXa1 | 7 | Mar 29, 2022 |
| Glycogen storage disease IXa2 | 8 | Sep 23, 2016 |
| Glycogen storage disease IXb | 6 | Aug 3, 2015 |
| Glycogen storage disease IXc | 7 | Aug 17, 2016 |
| Glycogen storage disease IXd | 5 | Jun 20, 2019 |
| Glycogen storage disease XV | 2 | Jan 26, 2015 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 14 | Jan 10, 2018 |
| Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | 2 | Apr 26, 2017 |
| Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | 8 | Apr 26, 2017 |
| Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | 2 | May 8, 2014 |
| Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | 4 | Jun 13, 2019 |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 2 | Dec 16, 2016 |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2 | Oct 7, 2016 |
| Glycogen storage disease due to muscle beta-enolase deficiency | 5 | Sep 24, 2021 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 14 | Mar 30, 2022 |
| Glycogen storage disease type II, infantile | 5 | Sep 28, 2021 |
| Glycogen storage disease type X | 4 | Jul 21, 2020 |
| Glycogen storage disease, type II | 4 | Oct 20, 2017 |
| Glycogen storage disease, type V | 19 | Oct 11, 2018 |
| Glycogen storage disease, type VI | 5 | Jul 11, 2019 |
| Glycogen storage disease, type VII | 9 | May 8, 2014 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 8 | Jul 22, 2015 |
| Glycophorin c, gerbich variant | 1 | Jan 18, 2017 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 7 | Dec 18, 2017 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 3 | Dec 21, 2017 |
| Glycosylphosphatidylinositol biosynthesis defect 17 | 3 | Dec 28, 2022 |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 10 | May 22, 2021 |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 2 | May 18, 2020 |
| Glycosylphosphatidylinositol biosynthesis defect 25 | 1 | Aug 5, 2022 |
| Gm2-gangliosidosis, adult | 1 | Jul 28, 2021 |
| Gm2-gangliosidosis, chronic | 2 | Jul 5, 2017 |
| Gm2-gangliosidosis, juvenile | 2 | Sep 9, 2021 |
| Gm2-gangliosidosis, late onset | 3 | Jul 28, 2021 |
| Gm2-gangliosidosis, subacute | 2 | Jul 28, 2021 |
| Gm2-gangliosidosis, variant b1 | 1 | Nov 29, 2012 |
| Gnathodiaphyseal dysplasia | 3 | Oct 4, 2016 |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | 11 | Aug 16, 2023 |
| Goldberg-Shprintzen syndrome | 5 | Feb 25, 2015 |
| Goldmann-Favre syndrome | 1 | Feb 21, 2017 |
| Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | 6 | Aug 31, 2022 |
| Gonadotropin-independent familial sexual precocity | 11 | Jul 18, 2017 |
| Gordon syndrome | 3 | May 21, 2019 |
| Gorlin syndrome | 2 | May 22, 2018 |
| Graft-versus-host disease, resistance to | 1 | Jan 3, 2018 |
| Grange syndrome | 7 | Jul 2, 2020 |
| Granulocytopenia with immunoglobulin abnormality | 2 | Dec 20, 2018 |
| Granulomatous disease, chronic, X-linked | 13 | Feb 19, 2019 |
| Granulomatous disease, chronic, X-linked, variant | 7 | Feb 19, 2019 |
| Granulomatous disease, chronic, autosomal recessive, 5 | 2 | Jul 7, 2020 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 11 | Jul 6, 2020 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 7 | Jul 28, 2020 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 10 | Jul 7, 2020 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 6 | Jul 6, 2020 |
| Gray platelet syndrome | 7 | Oct 21, 2016 |
| Grebe syndrome | 3 | Apr 3, 2020 |
| Greek HPFH | 1 | Dec 11, 2017 |
| Greenberg dysplasia | 7 | Mar 17, 2022 |
| Greig cephalopolysyndactyly syndrome | 9 | Apr 16, 2018 |
| Greig cephalopolysyndactyly syndrome, severe | 1 | Apr 16, 2018 |
| Griscelli syndrome type 1 | 5 | May 23, 2022 |
| Griscelli syndrome type 2 | 15 | Jun 1, 2022 |
| Griscelli syndrome type 3 | 4 | May 25, 2023 |
| Groenouw corneal dystrophy type I | 2 | Feb 7, 2020 |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 3 | May 8, 2015 |
| Growth delay due to insulin-like growth factor I resistance | 9 | Dec 14, 2017 |
| Growth delay due to insulin-like growth factor type 1 deficiency | 3 | Sep 26, 2016 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 3 | Aug 24, 2020 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 5 | Aug 21, 2020 |
| Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | 1 | May 10, 2021 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 8 | Aug 20, 2019 |
| Guttmacher syndrome | 1 | Nov 23, 2019 |
| Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia | 2 | Feb 1, 2018 |
| H syndrome | 14 | Apr 9, 2018 |
| HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM | 1 | Sep 26, 2019 |
| HB AUBENAS | 1 | Dec 12, 2017 |
| HB CAMPERDOWN | 1 | Dec 12, 2017 |
| HB GAMBARA | 1 | Dec 12, 2017 |
| HB NIIGATA | 1 | Dec 12, 2017 |
| HBB/HBD ANTI-LEPORE | 4 | Sep 15, 2023 |
| HBG1 POLYMORPHISM | 1 | Jul 15, 2011 |
| HELIX syndrome | 3 | Nov 20, 2018 |
| HEMIFACIAL MYOHYPERPLASIA, SOMATIC | 3 | Feb 26, 2024 |
| HEMOGLOBIN 'T LANGE LAND | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) ADRIA | 1 | May 1, 2012 |
| HEMOGLOBIN A(2) AGRINIO | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) BABINGA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) CAMPANIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) CANADA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) CAPRI | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) COBURG | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) CORFU | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) FITZROY | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) FLATBUSH | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) GROVETOWN | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) HONAI | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) INDONESIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) LUCANIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) MANZANARES | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) MELBOURNE | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) METAPONTO | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) MONREALE | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) NIIGATA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) NINIVE | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) NYU | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) PARKVILLE | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) PELENDRI | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) PUGLIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) ROOSEVELT | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) SANT' ANTIOCO | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) SPHAKIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) TROODOS | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) VICTORIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) WRENS | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) YIALOUSA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) YOKOSHIMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2) ZAGREB | 1 | Dec 12, 2017 |
| HEMOGLOBIN A(2)-PRIME | 1 | Dec 12, 2017 |
| HEMOGLOBIN AALBORG | 1 | Dec 12, 2017 |
| HEMOGLOBIN ABRAHAM LINCOLN | 1 | Dec 12, 2017 |
| HEMOGLOBIN ABRUZZO | 1 | Dec 12, 2017 |
| HEMOGLOBIN ADANA | 1 | Jul 20, 2016 |
| HEMOGLOBIN AGENOGI | 1 | Dec 12, 2017 |
| HEMOGLOBIN AGHIA SOPHIA | 1 | Jul 20, 2016 |
| HEMOGLOBIN AGRINIO | 1 | Mar 28, 2013 |
| HEMOGLOBIN AICHI | 1 | Jul 20, 2016 |
| HEMOGLOBIN AIDA | 1 | May 10, 2018 |
| HEMOGLOBIN AL-AIN ABU DHABI | 1 | Jul 20, 2016 |
| HEMOGLOBIN AL-HAMMADI RIYADH | 1 | Oct 13, 2016 |
| HEMOGLOBIN ALABAMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ALAMO | 1 | Dec 12, 2017 |
| HEMOGLOBIN ALBANY-GEORGIA | 1 | May 10, 2018 |
| HEMOGLOBIN ALBANY-SUMA | 1 | May 10, 2018 |
| HEMOGLOBIN ALBERTA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ALESHA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ALTDORF | 1 | Dec 12, 2017 |
| HEMOGLOBIN ANAMOSA | 1 | Mar 28, 2013 |
| HEMOGLOBIN ANANTHARAJ | 1 | Jul 20, 2016 |
| HEMOGLOBIN ANDREW-MINNEAPOLIS | 1 | Dec 12, 2017 |
| HEMOGLOBIN ANKARA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ANN ARBOR | 1 | May 10, 2018 |
| HEMOGLOBIN ANTALYA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ANTANANARIVO | 1 | Sep 12, 2014 |
| HEMOGLOBIN ARLINGTON PARK | 1 | Dec 12, 2017 |
| HEMOGLOBIN ARTA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ARYA | 1 | Jul 20, 2016 |
| HEMOGLOBIN ASABARA | 1 | May 10, 2018 |
| HEMOGLOBIN ATAGO | 1 | May 10, 2018 |
| HEMOGLOBIN ATHENS-GEORGIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ATLANTA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ATLANTA-COVENTRY | 1 | Dec 12, 2017 |
| HEMOGLOBIN ATTLEBORO | 1 | Jul 20, 2016 |
| HEMOGLOBIN AUBAGNE | 1 | Dec 12, 2017 |
| HEMOGLOBIN AUCKLAND | 1 | Jul 20, 2016 |
| HEMOGLOBIN AURORA | 1 | Dec 12, 2017 |
| HEMOGLOBIN AUSTIN | 1 | Dec 12, 2017 |
| HEMOGLOBIN AVICENNA | 1 | Dec 12, 2017 |
| HEMOGLOBIN AZTEC | 1 | Jul 20, 2016 |
| HEMOGLOBIN B(2) | 1 | Dec 12, 2017 |
| HEMOGLOBIN BAB-SAADOUN | 1 | Dec 12, 2017 |
| HEMOGLOBIN BADEN | 1 | Dec 12, 2017 |
| HEMOGLOBIN BARBIZON | 1 | Dec 12, 2017 |
| HEMOGLOBIN BARCELONA | 1 | Dec 12, 2017 |
| HEMOGLOBIN BARI | 1 | Jul 20, 2016 |
| HEMOGLOBIN BAYLOR | 1 | Dec 12, 2017 |
| HEMOGLOBIN BECKMAN | 1 | Dec 12, 2017 |
| HEMOGLOBIN BEIJING | 1 | May 10, 2018 |
| HEMOGLOBIN BEILINSON | 1 | May 10, 2018 |
| HEMOGLOBIN BEIRUT | 1 | Dec 12, 2017 |
| HEMOGLOBIN BELFAST | 1 | Dec 12, 2017 |
| HEMOGLOBIN BELLIARD | 1 | Jul 20, 2016 |
| HEMOGLOBIN BEOGRAD | 1 | Dec 12, 2017 |
| HEMOGLOBIN BETH ISRAEL | 1 | Dec 12, 2017 |
| HEMOGLOBIN BETHESDA | 1 | Dec 12, 2017 |
| HEMOGLOBIN BEZIERS | 1 | Jul 20, 2016 |
| HEMOGLOBIN BICETRE | 1 | Dec 12, 2017 |
| HEMOGLOBIN BIRMINGHAM | 1 | Dec 12, 2017 |
| HEMOGLOBIN BIRMINGHAM (USA) | 1 | May 21, 2018 |
| HEMOGLOBIN BOGHE | 1 | Oct 13, 2016 |
| HEMOGLOBIN BOIS GUILLAUME | 1 | Jul 20, 2016 |
| HEMOGLOBIN BOLOGNA | 1 | Dec 12, 2017 |
| HEMOGLOBIN BOLOGNA-ST. ORSOLA | 1 | Dec 12, 2017 |
| HEMOGLOBIN BORAS | 1 | Dec 12, 2017 |
| HEMOGLOBIN BOUGARDIREY-MALI | 1 | Dec 12, 2017 |
| HEMOGLOBIN BOURMEDES | 1 | Jul 20, 2016 |
| HEMOGLOBIN BOYLE HEIGHTS | 1 | Jul 22, 2014 |
| HEMOGLOBIN BREM-SUR-MER | 1 | Dec 12, 2017 |
| HEMOGLOBIN BRESCIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN BREST | 1 | Dec 12, 2017 |
| HEMOGLOBIN BRIE COMTE ROBERT | 1 | Dec 12, 2017 |
| HEMOGLOBIN BRIGHAM | 1 | Dec 12, 2017 |
| HEMOGLOBIN BRISBANE | 1 | Dec 12, 2017 |
| HEMOGLOBIN BRISTOL | 1 | Dec 12, 2017 |
| HEMOGLOBIN BRITISH COLUMBIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN BROCKTON | 1 | Dec 12, 2017 |
| HEMOGLOBIN BROUSSAIS | 1 | May 10, 2018 |
| HEMOGLOBIN BUFFALO | 1 | Jul 20, 2016 |
| HEMOGLOBIN BUGINESE-X | 1 | May 10, 2018 |
| HEMOGLOBIN BUNBURY | 1 | Dec 12, 2017 |
| HEMOGLOBIN BURKE | 1 | Dec 12, 2017 |
| HEMOGLOBIN BUSHEY | 1 | Dec 12, 2017 |
| HEMOGLOBIN BUSHWICK | 1 | Dec 12, 2017 |
| HEMOGLOBIN BUZEN | 1 | Dec 12, 2017 |
| HEMOGLOBIN C | 1 | Dec 12, 2017 |
| HEMOGLOBIN CAEN | 1 | Jul 20, 2016 |
| HEMOGLOBIN CAGLIARI | 1 | Dec 12, 2017 |
| HEMOGLOBIN CALAIS | 1 | Dec 12, 2017 |
| HEMOGLOBIN CAMDEN | 1 | Dec 12, 2017 |
| HEMOGLOBIN CAMPERDOWN | 1 | Dec 12, 2017 |
| HEMOGLOBIN CAMPINAS | 1 | May 21, 2018 |
| HEMOGLOBIN CANTERBURY | 1 | Dec 12, 2017 |
| HEMOGLOBIN CAPA | 1 | Jul 20, 2016 |
| HEMOGLOBIN CARDARELLI | 1 | Dec 12, 2017 |
| HEMOGLOBIN CARIBBEAN | 1 | Dec 12, 2017 |
| HEMOGLOBIN CASABLANCA | 1 | Dec 12, 2017 |
| HEMOGLOBIN CASPER | 1 | Dec 12, 2017 |
| HEMOGLOBIN CASTILLA | 1 | Dec 12, 2017 |
| HEMOGLOBIN CATONSVILLE | 1 | Jul 20, 2016 |
| HEMOGLOBIN CEMENELUM | 1 | Jul 20, 2016 |
| HEMOGLOBIN CHAD | 1 | Jul 20, 2016 |
| HEMOGLOBIN CHANDIGARH | 1 | Dec 12, 2017 |
| HEMOGLOBIN CHAPEL HILL | 1 | Jul 20, 2016 |
| HEMOGLOBIN CHAROLLES | 1 | Jul 20, 2016 |
| HEMOGLOBIN CHARTRES | 1 | Oct 13, 2016 |
| HEMOGLOBIN CHEMILLY | 1 | Dec 12, 2017 |
| HEMOGLOBIN CHESAPEAKE | 1 | Nov 1, 2019 |
| HEMOGLOBIN CHESTERFIELD | 1 | Dec 12, 2017 |
| HEMOGLOBIN CHEVERLY | 1 | Dec 12, 2017 |
| HEMOGLOBIN CHIAPAS | 1 | Jul 20, 2016 |
| HEMOGLOBIN CHIBA | 1 | Dec 12, 2017 |
| HEMOGLOBIN CHICAGO | 1 | Jul 20, 2016 |
| HEMOGLOBIN CHICO | 1 | Dec 12, 2017 |
| HEMOGLOBIN CHILE | 1 | Dec 12, 2017 |
| HEMOGLOBIN CHONGQING | 1 | Jul 20, 2016 |
| HEMOGLOBIN CHRISTCHURCH | 1 | Dec 12, 2017 |
| HEMOGLOBIN CITY OF HOPE | 1 | Dec 12, 2017 |
| HEMOGLOBIN CLEVELAND | 1 | Dec 12, 2017 |
| HEMOGLOBIN CLINICO-MADRID | 2 | Mar 28, 2013 |
| HEMOGLOBIN COCHIN-PORT ROYAL | 1 | Dec 12, 2017 |
| HEMOGLOBIN COCODY | 1 | Dec 12, 2017 |
| HEMOGLOBIN COIMBRA | 1 | Dec 12, 2017 |
| HEMOGLOBIN COLIMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN COLLINGWOOD | 1 | Dec 12, 2017 |
| HEMOGLOBIN COLUMBIA MISSOURI | 1 | May 22, 2018 |
| HEMOGLOBIN COMPLUTENSE | 1 | Dec 12, 2017 |
| HEMOGLOBIN CONAKRY | 1 | Mar 28, 2013 |
| HEMOGLOBIN CONNECTICUT | 1 | Dec 12, 2017 |
| HEMOGLOBIN CONTALDO | 1 | Jul 20, 2016 |
| HEMOGLOBIN CORDELE | 1 | Jul 20, 2016 |
| HEMOGLOBIN COSTA RICA | 1 | Dec 12, 2017 |
| HEMOGLOBIN COVENTRY | 1 | Dec 12, 2017 |
| HEMOGLOBIN COWTOWN | 1 | Dec 12, 2017 |
| HEMOGLOBIN CRANSTON | 1 | Dec 12, 2017 |
| HEMOGLOBIN CRETE | 1 | Dec 12, 2017 |
| HEMOGLOBIN CRETEIL | 1 | Dec 12, 2017 |
| HEMOGLOBIN D (AGRI) | 1 | Dec 12, 2017 |
| HEMOGLOBIN D (BALTIMORE) | 1 | Mar 28, 2013 |
| HEMOGLOBIN D (BUSHMAN) | 1 | Dec 12, 2017 |
| HEMOGLOBIN D (CAMPERDOWN) | 1 | Dec 12, 2017 |
| HEMOGLOBIN D (GRANADA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN D (IBADAN) | 1 | Dec 12, 2017 |
| HEMOGLOBIN D (IRAN) | 1 | Dec 12, 2017 |
| HEMOGLOBIN D (NEATH) | 1 | Dec 12, 2017 |
| HEMOGLOBIN D (OULED RABAH) | 1 | Dec 12, 2017 |
| HEMOGLOBIN D (ST. LOUIS) | 1 | Mar 28, 2013 |
| HEMOGLOBIN D (WASHINGTON) | 1 | Mar 28, 2013 |
| HEMOGLOBIN DAGESTAN | 1 | Jul 20, 2016 |
| HEMOGLOBIN DAKAR | 1 | Jul 20, 2016 |
| HEMOGLOBIN DANESHGAH-TEHRAN | 1 | May 10, 2018 |
| HEMOGLOBIN DARTMOUTH | 1 | Oct 13, 2016 |
| HEMOGLOBIN DAVENPORT | 1 | Mar 28, 2013 |
| HEMOGLOBIN DEACONESS | 1 | Dec 12, 2017 |
| HEMOGLOBIN DEBROUSSE | 1 | Dec 12, 2017 |
| HEMOGLOBIN DECINES-CHARPIEU | 1 | Mar 28, 2013 |
| HEMOGLOBIN DEER LODGE | 1 | Dec 12, 2017 |
| HEMOGLOBIN DELFZICHT | 1 | Jul 20, 2016 |
| HEMOGLOBIN DENMARK HILL | 1 | Jul 20, 2016 |
| HEMOGLOBIN DENVER | 1 | Dec 12, 2017 |
| HEMOGLOBIN DETROIT | 1 | Dec 12, 2017 |
| HEMOGLOBIN DIE | 1 | Jul 20, 2016 |
| HEMOGLOBIN DIEPPE | 1 | Dec 12, 2017 |
| HEMOGLOBIN DJELFA | 1 | Dec 12, 2017 |
| HEMOGLOBIN DOHA | 1 | Dec 12, 2017 |
| HEMOGLOBIN DOUALA | 1 | Jul 20, 2016 |
| HEMOGLOBIN DRENTHE | 1 | Dec 12, 2017 |
| HEMOGLOBIN DUAN | 1 | May 10, 2018 |
| HEMOGLOBIN DUARTE | 1 | Dec 12, 2017 |
| HEMOGLOBIN DUINO | 1 | Dec 12, 2017 |
| HEMOGLOBIN DUNN | 1 | Jul 20, 2016 |
| HEMOGLOBIN DURHAM-N.C. | 1 | Dec 12, 2017 |
| HEMOGLOBIN E (SASKATOON) | 1 | Nov 14, 2019 |
| HEMOGLOBIN EDMONTON | 1 | Dec 12, 2017 |
| HEMOGLOBIN EGYPT | 1 | Dec 12, 2017 |
| HEMOGLOBIN ERNZ | 1 | Dec 12, 2017 |
| HEMOGLOBIN ETHIOPIA | 1 | Nov 1, 2019 |
| HEMOGLOBIN ETOBICOKE | 1 | Jul 20, 2016 |
| HEMOGLOBIN EVANS | 1 | Aug 5, 2021 |
| HEMOGLOBIN EVANSTON | 1 | Jul 20, 2016 |
| HEMOGLOBIN EXTREMADURA | 1 | Dec 12, 2017 |
| HEMOGLOBIN F (ALBAICIN) | 1 | Aug 18, 2016 |
| HEMOGLOBIN F (AUCKLAND) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (AUSTELL) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (BASKENT) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (BEECH ISLAND) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (BONAIRE) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (BROOKLYN) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (CALABRIA) | 1 | Aug 18, 2016 |
| HEMOGLOBIN F (CALLUNA) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (CALTECH) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (CARLTON) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (CATALONIA) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (CHARLOTTE) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (CLAMART) | 1 | Aug 18, 2016 |
| HEMOGLOBIN F (CLARKE) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (COBB) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (COLUMBUS-GA) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (COSENZA) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (DAMMAM) | 1 | Mar 24, 2021 |
| HEMOGLOBIN F (DICKINSON) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (EMIRATES) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (FOREST PARK) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (FUCHU) | 1 | Aug 18, 2016 |
| HEMOGLOBIN F (FUKUYAMA) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (GRANADA) | 1 | Aug 18, 2016 |
| HEMOGLOBIN F (HEATHER) | 1 | Oct 4, 2018 |
| HEMOGLOBIN F (HULL) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (IWATA) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (IZUMI) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (JAMAICA) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (JIANGSU) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (KENNESTONE) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (KINGSTON) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (KOELLIKER) | 1 | May 10, 2018 |
| HEMOGLOBIN F (KOTOBUKI) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (KUALA LUMPUR) | 1 | Apr 26, 2017 |
| HEMOGLOBIN F (LA GRANGE) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (LESVOS) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (LODZ) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (MACEDONIA II) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (MACEDONIA-I) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (MALAYSIA) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (MALTA) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (MARIETTA) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (MEINOHAMA) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (MELBOURNE) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (MINOO) | 1 | Aug 18, 2016 |
| HEMOGLOBIN F (OAKLAND) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (ONODA) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (OULED RABAH) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (PENDERGRASS) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (POOLE) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (PORDENONE) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (PORT ROYAL) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (PORTO TORRES) | 1 | Aug 18, 2016 |
| HEMOGLOBIN F (SACROMONTE) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (SARDINIA) | 1 | Mar 25, 2021 |
| HEMOGLOBIN F (SHANGHAI) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (SIENA) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (TEXAS I) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (TOKYO) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (URUMQI) | 1 | Aug 17, 2018 |
| HEMOGLOBIN F (VELETA) | 1 | Aug 18, 2016 |
| HEMOGLOBIN F (VICTORIA JUBILEE) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (WAYNESBORO) | 1 | Aug 5, 2011 |
| HEMOGLOBIN F (WOODSTOCK) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (XIN-SU) | 1 | Jul 15, 2011 |
| HEMOGLOBIN F (XINJIANG) | 1 | Apr 26, 2017 |
| HEMOGLOBIN F (YAMAGUCHI) | 1 | Jul 15, 2011 |
| HEMOGLOBIN FANNIN-LUBBOCK | 1 | Dec 12, 2017 |
| HEMOGLOBIN FERNDOWN | 1 | Jul 20, 2016 |
| HEMOGLOBIN FLATBUSH (GEORGIA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN FONTAINEBLEAU | 1 | Jul 20, 2016 |
| HEMOGLOBIN FORT DE FRANCE | 1 | Jul 20, 2016 |
| HEMOGLOBIN FORT WORTH | 1 | Jul 20, 2016 |
| HEMOGLOBIN FUCHU-I | 1 | Jul 20, 2016 |
| HEMOGLOBIN FUCHU-II | 1 | Jul 20, 2016 |
| HEMOGLOBIN FUKUI | 1 | Oct 13, 2016 |
| HEMOGLOBIN FUKUOKA | 1 | Dec 12, 2017 |
| HEMOGLOBIN FUKUTOMI | 1 | Jul 20, 2016 |
| HEMOGLOBIN FUKUYAMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (ACCRA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (AUDHALI) | 1 | Jul 20, 2016 |
| HEMOGLOBIN G (AZAKUOLI) | 1 | Mar 28, 2013 |
| HEMOGLOBIN G (BRISTOL) | 1 | Mar 28, 2013 |
| HEMOGLOBIN G (CHINESE) | 1 | May 21, 2018 |
| HEMOGLOBIN G (COPENHAGEN) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (COUSHATTA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (FERRARA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (FORT WORTH) | 1 | Jul 20, 2016 |
| HEMOGLOBIN G (GALVESTON) | 1 | Jul 20, 2016 |
| HEMOGLOBIN G (GEORGIA) | 1 | Jul 20, 2016 |
| HEMOGLOBIN G (HONG KONG) | 1 | May 21, 2018 |
| HEMOGLOBIN G (HONOLULU) | 1 | May 21, 2018 |
| HEMOGLOBIN G (HSI-TSOU) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (HSIN-CHU) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (KNOXVILLE) | 1 | Mar 28, 2013 |
| HEMOGLOBIN G (MAKASSAR) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (NORFOLK) | 1 | Jul 20, 2016 |
| HEMOGLOBIN G (PEST) | 1 | Jul 20, 2016 |
| HEMOGLOBIN G (PHILADELPHIA) | 1 | Mar 28, 2013 |
| HEMOGLOBIN G (PORT ARTHUR) | 1 | Jul 20, 2016 |
| HEMOGLOBIN G (SAN JOSE) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (SASKATOON) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (SINGAPORE) | 1 | May 21, 2018 |
| HEMOGLOBIN G (SZUHU) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (TAEGU) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (TAICHUNG) | 1 | May 10, 2018 |
| HEMOGLOBIN G (TAIPEI) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (TAIWAN-AMI) | 1 | Dec 12, 2017 |
| HEMOGLOBIN G (TEXAS) | 1 | Jul 20, 2016 |
| HEMOGLOBIN G (WAIMANALO) | 1 | May 10, 2018 |
| HEMOGLOBIN GAINESVILLE-GA | 1 | Dec 12, 2017 |
| HEMOGLOBIN GALICIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN GARDEN STATE | 1 | Jul 20, 2016 |
| HEMOGLOBIN GAVELLO | 1 | Dec 12, 2017 |
| HEMOGLOBIN GEELONG | 1 | Jul 20, 2016 |
| HEMOGLOBIN GELDROP ST. ANNA | 1 | Dec 12, 2017 |
| HEMOGLOBIN GENOVA | 1 | Dec 12, 2017 |
| HEMOGLOBIN GERLAND | 1 | Mar 28, 2013 |
| HEMOGLOBIN GIFU | 1 | Dec 12, 2017 |
| HEMOGLOBIN GODAVARI | 1 | Jul 20, 2016 |
| HEMOGLOBIN GOTHENBURG | 1 | May 10, 2018 |
| HEMOGLOBIN GOUDA | 1 | Jul 20, 2016 |
| HEMOGLOBIN GRADY | 1 | Jul 20, 2016 |
| HEMOGLOBIN GRANGE-BLANCHE | 1 | Dec 12, 2017 |
| HEMOGLOBIN GRAZ | 1 | Dec 12, 2017 |
| HEMOGLOBIN GREAT LAKES | 1 | Dec 12, 2017 |
| HEMOGLOBIN GRENOBLE | 1 | Dec 12, 2017 |
| HEMOGLOBIN GUANGZHOU | 1 | May 10, 2018 |
| HEMOGLOBIN GUIZHOU | 1 | Jul 20, 2016 |
| HEMOGLOBIN GUN HILL | 1 | Dec 12, 2017 |
| HEMOGLOBIN H HYDROPS FETALIS SYNDROME | 3 | May 21, 2018 |
| HEMOGLOBIN HACETTEPE | 1 | Dec 12, 2017 |
| HEMOGLOBIN HAFNIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN HAKKARI | 1 | Dec 12, 2017 |
| HEMOGLOBIN HAMADAN | 1 | Dec 12, 2017 |
| HEMOGLOBIN HAMILTON | 1 | Dec 12, 2017 |
| HEMOGLOBIN HAMMERSMITH | 1 | Dec 12, 2017 |
| HEMOGLOBIN HANA | 1 | Nov 14, 2019 |
| HEMOGLOBIN HANAMAKI | 1 | May 22, 2018 |
| HEMOGLOBIN HANDA | 1 | Jul 20, 2016 |
| HEMOGLOBIN HANDSWORTH | 1 | Jul 20, 2016 |
| HEMOGLOBIN HANGZHOU | 1 | May 10, 2018 |
| HEMOGLOBIN HARBIN | 1 | Jul 20, 2016 |
| HEMOGLOBIN HARROW | 1 | Dec 12, 2017 |
| HEMOGLOBIN HASHARON | 1 | May 21, 2018 |
| HEMOGLOBIN HAZEBROUCK | 1 | Jul 20, 2016 |
| HEMOGLOBIN HEATHROW | 1 | Dec 12, 2017 |
| HEMOGLOBIN HEKINAN | 1 | Jul 20, 2016 |
| HEMOGLOBIN HELSINKI | 1 | Dec 12, 2017 |
| HEMOGLOBIN HENRI MONDOR | 1 | Dec 12, 2017 |
| HEMOGLOBIN HIGASHITOCHIGI | 1 | Dec 12, 2017 |
| HEMOGLOBIN HIJIYAMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN HIKARI | 1 | Dec 12, 2017 |
| HEMOGLOBIN HIKOSHIMA | 1 | Jul 20, 2016 |
| HEMOGLOBIN HIMEJI | 1 | Dec 12, 2017 |
| HEMOGLOBIN HINSDALE | 1 | Dec 12, 2017 |
| HEMOGLOBIN HINWIL | 1 | Dec 12, 2017 |
| HEMOGLOBIN HIROSAKI | 1 | May 10, 2018 |
| HEMOGLOBIN HIROSE | 1 | Aug 3, 2021 |
| HEMOGLOBIN HIROSHIMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN HOBART | 1 | Jul 20, 2016 |
| HEMOGLOBIN HOFU | 1 | Dec 12, 2017 |
| HEMOGLOBIN HOKUSETSU | 1 | Dec 12, 2017 |
| HEMOGLOBIN HOPKINS 1 | 1 | Dec 12, 2017 |
| HEMOGLOBIN HOPKINS 2 | 1 | Jul 20, 2016 |
| HEMOGLOBIN HOTEL-DIEU | 1 | Dec 12, 2017 |
| HEMOGLOBIN HOUSTON | 1 | Dec 12, 2017 |
| HEMOGLOBIN HOWICK | 1 | Dec 12, 2017 |
| HEMOGLOBIN HT | 1 | Dec 12, 2017 |
| HEMOGLOBIN HYOGO | 1 | Dec 12, 2017 |
| HEMOGLOBIN I | 2 | May 10, 2018 |
| HEMOGLOBIN I (BURLINGTON) | 2 | May 10, 2018 |
| HEMOGLOBIN I (HIGH WYCOMBE) | 1 | Dec 12, 2017 |
| HEMOGLOBIN I (INTERLAKEN) | 1 | Oct 13, 2016 |
| HEMOGLOBIN I (PHILADELPHIA) | 2 | May 10, 2018 |
| HEMOGLOBIN I (SKAMANIA) | 2 | May 10, 2018 |
| HEMOGLOBIN I (TEXAS) | 2 | May 10, 2018 |
| HEMOGLOBIN ICARIA | 1 | May 21, 2018 |
| HEMOGLOBIN ILMENAU | 1 | Dec 12, 2017 |
| HEMOGLOBIN INDIANAPOLIS | 1 | Dec 12, 2017 |
| HEMOGLOBIN INKSTER | 1 | May 22, 2018 |
| HEMOGLOBIN IOWA | 1 | Dec 12, 2017 |
| HEMOGLOBIN IRAQ-HALABJA | 1 | Dec 12, 2017 |
| HEMOGLOBIN IWATA | 1 | May 10, 2018 |
| HEMOGLOBIN J | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (ABIDJAN) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (ALJEZUR) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (ALTGELD GARDENS) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (AMIENS) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (ANATOLIA) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (ANTAKYA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (AUCKLAND) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (BALTIMORE) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (BARI) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (BIRMINGHAM) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (BISKRA) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (BROUSSAIS) | 1 | May 10, 2018 |
| HEMOGLOBIN J (BUDA) | 1 | May 22, 2018 |
| HEMOGLOBIN J (CAIRO) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (CALABRIA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (CAMAGUEY) | 1 | May 10, 2018 |
| HEMOGLOBIN J (CAPE TOWN) | 1 | Nov 1, 2019 |
| HEMOGLOBIN J (CHICAGO) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (CORDOBA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (COSENZA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (CUBUJUQUI) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (DALOA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (EUROPA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (GUANTANAMO) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (HABANA) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (IRAN) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (KUROSH) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (LENS) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (LOME) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (LUHE) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (MEDELLIN) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (MEERUT) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (MEXICO) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (NORFOLK) | 1 | May 10, 2018 |
| HEMOGLOBIN J (NYANZA) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (OXFORD) | 1 | Oct 13, 2016 |
| HEMOGLOBIN J (PARIS 1) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (PARIS 2) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (PONTOISE) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (RAJAPPEN) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (ROVIGO) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (SARDEGNA) | 1 | Mar 28, 2013 |
| HEMOGLOBIN J (SICILIA) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (SINGA) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (SINGAPORE) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (TAICHUNG) | 1 | Dec 12, 2017 |
| HEMOGLOBIN J (TASHIKUERGAN) | 1 | May 10, 2018 |
| HEMOGLOBIN J (TONGARIKI) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (TORONTO) | 1 | Jul 20, 2016 |
| HEMOGLOBIN J (WENCHANG-WUMING) | 1 | Jul 20, 2016 |
| HEMOGLOBIN JACKSON | 1 | Jul 20, 2016 |
| HEMOGLOBIN JACKSONVILLE | 1 | Dec 12, 2017 |
| HEMOGLOBIN JAMAICA PLAIN | 1 | Dec 12, 2017 |
| HEMOGLOBIN JENKINS | 1 | Dec 12, 2017 |
| HEMOGLOBIN JIANGHUA | 1 | Dec 12, 2017 |
| HEMOGLOBIN JINAN | 1 | Jul 20, 2016 |
| HEMOGLOBIN JOHNSTOWN | 1 | Dec 12, 2017 |
| HEMOGLOBIN K (CAMEROON) | 1 | Jul 20, 2016 |
| HEMOGLOBIN K (IBADAN) | 1 | Dec 12, 2017 |
| HEMOGLOBIN K (WOOLWICH) | 1 | Dec 12, 2017 |
| HEMOGLOBIN KAGOSHIMA | 1 | May 10, 2018 |
| HEMOGLOBIN KANAGAWA | 1 | Nov 1, 2019 |
| HEMOGLOBIN KARACHI | 1 | Jul 20, 2016 |
| HEMOGLOBIN KARIYA | 1 | Jul 20, 2016 |
| HEMOGLOBIN KARLSKOGA | 1 | Dec 12, 2017 |
| HEMOGLOBIN KAWACHI | 1 | Jul 20, 2016 |
| HEMOGLOBIN KEMPSEY | 1 | Dec 12, 2017 |
| HEMOGLOBIN KENITRA | 1 | Dec 12, 2017 |
| HEMOGLOBIN KENWOOD | 1 | Dec 12, 2017 |
| HEMOGLOBIN KENYA | 1 | Jul 15, 2011 |
| HEMOGLOBIN KHARTOUM | 1 | Dec 12, 2017 |
| HEMOGLOBIN KNOSSOS | 1 | Dec 12, 2017 |
| HEMOGLOBIN KNOXVILLE-1 | 1 | Mar 28, 2013 |
| HEMOGLOBIN KOBE | 1 | Dec 12, 2017 |
| HEMOGLOBIN KOCHI | 1 | Dec 12, 2017 |
| HEMOGLOBIN KODAIRA | 1 | Jul 20, 2016 |
| HEMOGLOBIN KODAIRA II | 1 | Dec 12, 2017 |
| HEMOGLOBIN KOELLIKER | 1 | May 10, 2018 |
| HEMOGLOBIN KOFU | 1 | Dec 12, 2017 |
| HEMOGLOBIN KOKURA | 1 | May 10, 2018 |
| HEMOGLOBIN KOREA | 1 | Dec 12, 2017 |
| HEMOGLOBIN KORIYAMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN KORLE-BU | 1 | Dec 12, 2017 |
| HEMOGLOBIN KOYA DORA | 1 | Mar 28, 2013 |
| HEMOGLOBIN KURASHIKI | 1 | May 10, 2018 |
| HEMOGLOBIN KURDISTAN | 1 | Mar 28, 2013 |
| HEMOGLOBIN KUROSAKI | 1 | Oct 13, 2016 |
| HEMOGLOBIN L (FERRARA) | 1 | May 21, 2018 |
| HEMOGLOBIN L (GASLINI) | 1 | May 10, 2018 |
| HEMOGLOBIN L (PERSIAN GULF) | 1 | Jul 20, 2016 |
| HEMOGLOBIN LA CORUNA | 1 | Dec 12, 2017 |
| HEMOGLOBIN LA DESIRADE | 1 | Dec 12, 2017 |
| HEMOGLOBIN LA ROCHE-SUR-YON | 1 | Dec 12, 2017 |
| HEMOGLOBIN LAMEN ISLAND | 1 | Jul 20, 2016 |
| HEMOGLOBIN LAS PALMAS | 1 | Dec 12, 2017 |
| HEMOGLOBIN LE LAMENTIN | 1 | Jul 20, 2016 |
| HEMOGLOBIN LEGNANO | 1 | Nov 1, 2019 |
| HEMOGLOBIN LEIDEN | 1 | Nov 14, 2019 |
| HEMOGLOBIN LESLIE | 1 | Dec 12, 2017 |
| HEMOGLOBIN LILLE | 1 | Jul 20, 2016 |
| HEMOGLOBIN LIMASSOL | 1 | Dec 12, 2017 |
| HEMOGLOBIN LINCOLN PARK | 1 | Dec 12, 2017 |
| HEMOGLOBIN LINKOPING | 1 | Dec 12, 2017 |
| HEMOGLOBIN LISBON | 1 | Jul 20, 2016 |
| HEMOGLOBIN LOIRE | 1 | Nov 1, 2019 |
| HEMOGLOBIN LOMBARD | 1 | Mar 28, 2013 |
| HEMOGLOBIN LUCKNOW | 1 | Dec 12, 2017 |
| HEMOGLOBIN LUFKIN | 1 | Dec 12, 2017 |
| HEMOGLOBIN LUTON | 1 | Jul 20, 2016 |
| HEMOGLOBIN LUXEMBOURG | 1 | Jul 20, 2016 |
| HEMOGLOBIN LYON | 1 | Dec 12, 2017 |
| HEMOGLOBIN M (AKITA) | 1 | May 10, 2018 |
| HEMOGLOBIN M (BOSTON) | 1 | May 10, 2018 |
| HEMOGLOBIN M (GOTHENBURG) | 1 | May 10, 2018 |
| HEMOGLOBIN M (HYDE PARK) | 1 | May 10, 2018 |
| HEMOGLOBIN M (IWATE) | 1 | May 10, 2018 |
| HEMOGLOBIN M (KANKAKEE) | 1 | May 10, 2018 |
| HEMOGLOBIN M (KISKUNHALAS) | 1 | May 10, 2018 |
| HEMOGLOBIN M (MILWAUKEE 1) | 1 | May 10, 2018 |
| HEMOGLOBIN M (MILWAUKEE 2) | 1 | May 10, 2018 |
| HEMOGLOBIN M (OLDENBURG) | 1 | May 10, 2018 |
| HEMOGLOBIN M (OSAKA) | 1 | May 10, 2018 |
| HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE | 1 | May 21, 2018 |
| HEMOGLOBIN M (SASKATOON) | 1 | May 10, 2018 |
| HEMOGLOBIN M (SENDAI) | 1 | May 10, 2018 |
| HEMOGLOBIN MACHIDA | 1 | Dec 12, 2017 |
| HEMOGLOBIN MADRID | 1 | Dec 12, 2017 |
| HEMOGLOBIN MAHIDOL | 1 | May 10, 2018 |
| HEMOGLOBIN MALAY | 1 | Dec 12, 2017 |
| HEMOGLOBIN MALHACEN | 1 | Jul 20, 2016 |
| HEMOGLOBIN MALMO | 1 | Dec 12, 2017 |
| HEMOGLOBIN MANAWATU | 1 | Oct 13, 2016 |
| HEMOGLOBIN MANHATTAN | 1 | Dec 12, 2017 |
| HEMOGLOBIN MANITOBA | 1 | May 21, 2018 |
| HEMOGLOBIN MANTES-LA-JOLIE | 1 | Jul 20, 2016 |
| HEMOGLOBIN MANUKAU | 1 | Dec 12, 2017 |
| HEMOGLOBIN MAPUTO | 1 | Dec 12, 2017 |
| HEMOGLOBIN MARINEO | 1 | Dec 12, 2017 |
| HEMOGLOBIN MASUDA | 1 | Dec 12, 2017 |
| HEMOGLOBIN MATERA | 1 | Dec 12, 2017 |
| HEMOGLOBIN MATSUE-OKI | 1 | May 10, 2018 |
| HEMOGLOBIN MCKEES ROCKS | 1 | Dec 12, 2017 |
| HEMOGLOBIN MEDICINE LAKE | 1 | Dec 12, 2017 |
| HEMOGLOBIN MEILAHTI | 1 | Dec 12, 2017 |
| HEMOGLOBIN MELUSINE | 1 | Jul 20, 2016 |
| HEMOGLOBIN MEMPHIS | 1 | Jul 20, 2016 |
| HEMOGLOBIN MEQUON | 1 | Jul 20, 2016 |
| HEMOGLOBIN MEXICO | 1 | Jul 20, 2016 |
| HEMOGLOBIN MICHIGAN-I | 1 | May 10, 2018 |
| HEMOGLOBIN MICHIGAN-II | 1 | May 10, 2018 |
| HEMOGLOBIN MILLEDGEVILLE | 1 | Nov 1, 2019 |
| HEMOGLOBIN MINNEAPOLIS-LAOS | 1 | Dec 12, 2017 |
| HEMOGLOBIN MITO | 1 | Dec 12, 2017 |
| HEMOGLOBIN MIYADA | 1 | Dec 12, 2017 |
| HEMOGLOBIN MIYANO | 1 | Jul 20, 2016 |
| HEMOGLOBIN MIYASHIRO | 1 | Dec 12, 2017 |
| HEMOGLOBIN MIZUHO | 1 | Dec 12, 2017 |
| HEMOGLOBIN MIZUNAMI | 1 | Dec 12, 2017 |
| HEMOGLOBIN MIZUSHI | 1 | Jul 20, 2016 |
| HEMOGLOBIN MOABIT | 1 | Jul 20, 2016 |
| HEMOGLOBIN MOBILE | 1 | Dec 12, 2017 |
| HEMOGLOBIN MOLFETTA | 1 | Dec 12, 2017 |
| HEMOGLOBIN MONT SAINT-AIGNAN | 1 | Dec 12, 2017 |
| HEMOGLOBIN MONTEFIORE | 1 | Jul 20, 2016 |
| HEMOGLOBIN MONTGOMERY | 1 | May 21, 2018 |
| HEMOGLOBIN MONTREAL | 1 | Dec 12, 2017 |
| HEMOGLOBIN MORIGUCHI | 1 | Dec 12, 2017 |
| HEMOGLOBIN MOSCVA | 1 | Dec 12, 2017 |
| HEMOGLOBIN MOSELLA | 1 | Jul 20, 2016 |
| HEMOGLOBIN MOTOWN | 1 | Dec 12, 2017 |
| HEMOGLOBIN MOZHAISK | 1 | Dec 12, 2017 |
| HEMOGLOBIN MUGINO | 1 | May 10, 2018 |
| HEMOGLOBIN MUNAKATA | 1 | Jul 20, 2016 |
| HEMOGLOBIN MUSCAT | 1 | Dec 12, 2017 |
| HEMOGLOBIN MUSKEGON | 1 | Dec 12, 2017 |
| HEMOGLOBIN N (BALTIMORE) | 1 | Dec 12, 2017 |
| HEMOGLOBIN N (COSENZA) | 1 | Oct 13, 2016 |
| HEMOGLOBIN N (JENKINS) | 1 | Dec 12, 2017 |
| HEMOGLOBIN N (MEMPHIS) | 1 | Dec 12, 2017 |
| HEMOGLOBIN N (SEATTLE) | 1 | Dec 12, 2017 |
| HEMOGLOBIN N (TIMONE) | 1 | Dec 12, 2017 |
| HEMOGLOBIN N, BETA TYPE | 1 | Dec 12, 2017 |
| HEMOGLOBIN NAGASAKI | 1 | Dec 12, 2017 |
| HEMOGLOBIN NAGOYA | 1 | Dec 12, 2017 |
| HEMOGLOBIN NAKANO | 1 | Dec 12, 2017 |
| HEMOGLOBIN NATAL | 1 | Mar 28, 2013 |
| HEMOGLOBIN NECKER ENFANTS-MALADES | 1 | Jul 20, 2016 |
| HEMOGLOBIN NEVERS | 1 | Dec 12, 2017 |
| HEMOGLOBIN NEW MEXICO | 1 | Dec 12, 2017 |
| HEMOGLOBIN NEWCASTLE | 1 | Dec 12, 2017 |
| HEMOGLOBIN NIGERIA | 1 | Jul 20, 2016 |
| HEMOGLOBIN NIJKERK | 1 | Dec 12, 2017 |
| HEMOGLOBIN NIKAIA | 1 | Mar 28, 2013 |
| HEMOGLOBIN NIKOSIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN NISHIK | 1 | May 10, 2018 |
| HEMOGLOBIN NITEROI | 1 | Jul 20, 2016 |
| HEMOGLOBIN NOKO | 1 | May 10, 2018 |
| HEMOGLOBIN NORFOLK | 1 | May 10, 2018 |
| HEMOGLOBIN NORTH CHICAGO | 1 | Dec 12, 2017 |
| HEMOGLOBIN NORTON | 1 | Mar 28, 2013 |
| HEMOGLOBIN NOTTINGHAM | 1 | Dec 12, 2017 |
| HEMOGLOBIN NOUAKCHOTT | 1 | Jul 20, 2016 |
| HEMOGLOBIN NUNOBIKI | 1 | Nov 1, 2019 |
| HEMOGLOBIN NYU | 1 | Dec 12, 2017 |
| HEMOGLOBIN O (ARAB) | 1 | Dec 12, 2017 |
| HEMOGLOBIN O (BUGINESE-X) | 1 | May 10, 2018 |
| HEMOGLOBIN O (INDONESIA) | 1 | May 10, 2018 |
| HEMOGLOBIN O (OLIVIERE) | 1 | May 10, 2018 |
| HEMOGLOBIN O (PADOVA) | 1 | May 10, 2018 |
| HEMOGLOBIN O (TIBESTI) | 1 | Dec 12, 2017 |
| HEMOGLOBIN OCHO RIOS | 1 | Dec 12, 2017 |
| HEMOGLOBIN OEGSTGEEST | 1 | Jul 20, 2016 |
| HEMOGLOBIN OGI | 1 | Jul 20, 2016 |
| HEMOGLOBIN OHIO | 1 | Dec 12, 2017 |
| HEMOGLOBIN OITA | 1 | Jul 20, 2016 |
| HEMOGLOBIN OKALOOSA | 1 | Dec 12, 2017 |
| HEMOGLOBIN OKAYAMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN OKAZAKI | 1 | Dec 12, 2017 |
| HEMOGLOBIN OLEANDER | 1 | Jul 20, 2016 |
| HEMOGLOBIN OLIVIERE | 1 | May 10, 2018 |
| HEMOGLOBIN OLMSTED | 1 | Dec 12, 2017 |
| HEMOGLOBIN OLOMOUC | 1 | Dec 12, 2017 |
| HEMOGLOBIN OLYMPIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN OTTAWA | 1 | Jul 20, 2016 |
| HEMOGLOBIN OWARI | 1 | May 10, 2018 |
| HEMOGLOBIN OZIERI | 1 | Jul 20, 2016 |
| HEMOGLOBIN P | 1 | Dec 12, 2017 |
| HEMOGLOBIN P (CONGO) | 1 | Dec 12, 2017 |
| HEMOGLOBIN P (GALVESTON) | 1 | Dec 12, 2017 |
| HEMOGLOBIN P (NILOTIC) | 1 | Dec 12, 2017 |
| HEMOGLOBIN PALMERSTON NORTH | 1 | Dec 12, 2017 |
| HEMOGLOBIN PARCHMAN | 1 | Dec 12, 2017 |
| HEMOGLOBIN PARK RIDGE | 1 | Mar 28, 2013 |
| HEMOGLOBIN PART-DIEU | 1 | Oct 13, 2016 |
| HEMOGLOBIN PASADENA | 1 | Dec 12, 2017 |
| HEMOGLOBIN PASSY | 1 | Oct 13, 2016 |
| HEMOGLOBIN PAVIE | 1 | Jul 20, 2016 |
| HEMOGLOBIN PERSPOLIS | 1 | Jul 20, 2016 |
| HEMOGLOBIN PERTH | 1 | Dec 12, 2017 |
| HEMOGLOBIN PETAH TIKVA | 1 | Jul 20, 2016 |
| HEMOGLOBIN PETERBOROUGH | 1 | Dec 12, 2017 |
| HEMOGLOBIN PHILLY | 1 | Dec 12, 2017 |
| HEMOGLOBIN PIERRE-BENITE | 1 | Dec 12, 2017 |
| HEMOGLOBIN PLASENCIA | 1 | Oct 13, 2016 |
| HEMOGLOBIN POCOS DE CALDAS | 1 | Dec 12, 2017 |
| HEMOGLOBIN POISSY | 1 | Dec 12, 2017 |
| HEMOGLOBIN POITIERS | 1 | May 10, 2018 |
| HEMOGLOBIN PONTOISE | 1 | Jul 20, 2016 |
| HEMOGLOBIN PORT HURON | 1 | Jul 20, 2016 |
| HEMOGLOBIN PORT PHILLIP | 1 | Jul 20, 2016 |
| HEMOGLOBIN PORTO ALEGRE | 1 | Dec 12, 2017 |
| HEMOGLOBIN POTOMAC | 1 | Dec 12, 2017 |
| HEMOGLOBIN PRESBYTERIAN | 1 | Dec 12, 2017 |
| HEMOGLOBIN PROVIDENCE | 1 | Dec 12, 2017 |
| HEMOGLOBIN PUTTELANGE | 1 | Dec 12, 2017 |
| HEMOGLOBIN PYRGOS | 1 | Dec 12, 2017 |
| HEMOGLOBIN Q | 1 | May 10, 2018 |
| HEMOGLOBIN Q (INDIA) | 1 | Jul 20, 2016 |
| HEMOGLOBIN Q (IRAN) | 1 | May 10, 2018 |
| HEMOGLOBIN Q (THAILAND) | 1 | May 10, 2018 |
| HEMOGLOBIN QUEENS | 1 | Jul 20, 2016 |
| HEMOGLOBIN QUESTEMBERT | 1 | Jul 20, 2016 |
| HEMOGLOBIN QUIN-HAI | 1 | Dec 12, 2017 |
| HEMOGLOBIN RADCLIFFE | 1 | Dec 12, 2017 |
| HEMOGLOBIN RAHERE | 1 | Dec 12, 2017 |
| HEMOGLOBIN RAINIER | 1 | Dec 12, 2017 |
| HEMOGLOBIN RALEIGH | 1 | Dec 12, 2017 |
| HEMOGLOBIN RAMONA | 1 | Jul 20, 2016 |
| HEMOGLOBIN RAMPA | 1 | May 21, 2018 |
| HEMOGLOBIN RANCHO MIRAGE | 1 | Dec 12, 2017 |
| HEMOGLOBIN RANDWICK | 1 | Dec 12, 2017 |
| HEMOGLOBIN REGINA | 1 | Dec 12, 2017 |
| HEMOGLOBIN REIMS | 1 | May 10, 2018 |
| HEMOGLOBIN RENERT | 1 | Dec 12, 2017 |
| HEMOGLOBIN RICCARTON | 1 | Jul 20, 2016 |
| HEMOGLOBIN RICHMOND | 1 | Dec 12, 2017 |
| HEMOGLOBIN RIO CLARO | 1 | Dec 12, 2017 |
| HEMOGLOBIN RIO GRANDE | 1 | Dec 12, 2017 |
| HEMOGLOBIN RIVERDALE-BRONX | 1 | Dec 12, 2017 |
| HEMOGLOBIN ROANNE | 1 | Jul 20, 2016 |
| HEMOGLOBIN ROCKFORD | 1 | Dec 12, 2017 |
| HEMOGLOBIN ROSEAU-POINTE A PITRE | 1 | Dec 12, 2017 |
| HEMOGLOBIN ROTHSCHILD | 1 | Dec 12, 2017 |
| HEMOGLOBIN ROUBAIX | 1 | Jul 20, 2016 |
| HEMOGLOBIN ROUEN | 1 | Nov 1, 2019 |
| HEMOGLOBIN RUSH | 1 | Dec 12, 2017 |
| HEMOGLOBIN RUSS | 1 | Jul 20, 2016 |
| HEMOGLOBIN S | 1 | Nov 14, 2019 |
| HEMOGLOBIN S (ANTILLES) | 1 | Dec 12, 2017 |
| HEMOGLOBIN S (CAMEROON) | 1 | Dec 12, 2017 |
| HEMOGLOBIN S (PROVIDENCE) | 1 | Dec 12, 2017 |
| HEMOGLOBIN S (TRAVIS) | 1 | Dec 12, 2017 |
| HEMOGLOBIN SAALE | 1 | Dec 12, 2017 |
| HEMOGLOBIN SABINE | 1 | Dec 12, 2017 |
| HEMOGLOBIN SAGAMI | 1 | Dec 12, 2017 |
| HEMOGLOBIN SAINT ETIENNE | 1 | Dec 12, 2017 |
| HEMOGLOBIN SAINT JACQUES | 1 | Dec 12, 2017 |
| HEMOGLOBIN SAINT NAZAIRE | 1 | Dec 12, 2017 |
| HEMOGLOBIN SAITAMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN SAKI | 1 | Dec 12, 2017 |
| HEMOGLOBIN SALLANCHES | 1 | Mar 28, 2013 |
| HEMOGLOBIN SAN ANTONIO | 1 | Mar 28, 2013 |
| HEMOGLOBIN SAN DIEGO | 1 | Dec 12, 2017 |
| HEMOGLOBIN SANTA ANA | 1 | Dec 12, 2017 |
| HEMOGLOBIN SANTA CLARA | 1 | Dec 12, 2017 |
| HEMOGLOBIN SANTANDER | 1 | Dec 12, 2017 |
| HEMOGLOBIN SARATOGA SPRINGS | 1 | May 21, 2018 |
| HEMOGLOBIN SARREBOURG | 1 | Jul 20, 2016 |
| HEMOGLOBIN SASSARI | 1 | Nov 1, 2019 |
| HEMOGLOBIN SAVANNAH | 1 | Dec 12, 2017 |
| HEMOGLOBIN SAVARIA | 1 | Jul 20, 2016 |
| HEMOGLOBIN SAVERNE | 1 | Dec 12, 2017 |
| HEMOGLOBIN SAWARA | 1 | May 10, 2018 |
| HEMOGLOBIN SEAL ROCK | 1 | May 22, 2018 |
| HEMOGLOBIN SEALY | 1 | May 21, 2018 |
| HEMOGLOBIN SEATTLE | 1 | Dec 12, 2017 |
| HEMOGLOBIN SERBIA | 1 | Jul 20, 2016 |
| HEMOGLOBIN SETIF | 1 | May 10, 2018 |
| HEMOGLOBIN SHAARE ZEDEK | 1 | Jul 20, 2016 |
| HEMOGLOBIN SHANGHAI | 1 | Dec 12, 2017 |
| HEMOGLOBIN SHELBY | 1 | Dec 12, 2017 |
| HEMOGLOBIN SHENYANG | 1 | May 10, 2018 |
| HEMOGLOBIN SHEPHERDS BUSH | 1 | Dec 12, 2017 |
| HEMOGLOBIN SHERWOOD FOREST | 1 | Dec 12, 2017 |
| HEMOGLOBIN SHIMONOSEKI | 1 | Jul 20, 2016 |
| HEMOGLOBIN SHOWA-YAKUSHIJI | 1 | Dec 12, 2017 |
| HEMOGLOBIN SHUANGFENG | 1 | Jul 20, 2016 |
| HEMOGLOBIN SIAM | 1 | Jul 20, 2016 |
| HEMOGLOBIN SILVER SPRINGS | 1 | Dec 12, 2017 |
| HEMOGLOBIN SINAI | 1 | May 21, 2018 |
| HEMOGLOBIN SINGAPORE | 1 | Jul 20, 2016 |
| HEMOGLOBIN SITIA | 1 | Dec 12, 2017 |
| HEMOGLOBIN SOGN | 1 | Dec 12, 2017 |
| HEMOGLOBIN SOUTH FLORIDA | 1 | Dec 12, 2017 |
| HEMOGLOBIN SOUTH MILWAUKEE | 1 | Dec 12, 2017 |
| HEMOGLOBIN SOUTHAMPTON | 1 | Dec 12, 2017 |
| HEMOGLOBIN SPANISH TOWN | 1 | Mar 28, 2013 |
| HEMOGLOBIN SPARTA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ST. ANTOINE | 1 | Dec 12, 2017 |
| HEMOGLOBIN ST. CLAUDE | 1 | Jul 20, 2016 |
| HEMOGLOBIN ST. FRANCIS | 1 | Dec 12, 2017 |
| HEMOGLOBIN ST. LOUIS | 1 | Dec 12, 2017 |
| HEMOGLOBIN ST. LUKE'S | 1 | Jul 20, 2016 |
| HEMOGLOBIN ST. MANDE | 1 | Dec 12, 2017 |
| HEMOGLOBIN STANLEYVILLE-I | 1 | Mar 28, 2013 |
| HEMOGLOBIN STANLEYVILLE-II | 1 | May 10, 2018 |
| HEMOGLOBIN STANMORE | 1 | Jul 20, 2016 |
| HEMOGLOBIN STRASBOURG | 1 | Dec 12, 2017 |
| HEMOGLOBIN STRUMICA | 1 | Jul 20, 2016 |
| HEMOGLOBIN SUAN-DOK | 1 | Mar 28, 2013 |
| HEMOGLOBIN SUMMER HILL | 1 | Dec 12, 2017 |
| HEMOGLOBIN SUN PRAIRIE | 1 | May 21, 2018 |
| HEMOGLOBIN SUNNYBROOK | 1 | Dec 12, 2017 |
| HEMOGLOBIN SUNSHINE SETH | 1 | Jul 20, 2016 |
| HEMOGLOBIN SURESNES | 1 | Nov 1, 2019 |
| HEMOGLOBIN SWAN RIVER | 1 | Nov 1, 2019 |
| HEMOGLOBIN SYDNEY | 1 | Dec 12, 2017 |
| HEMOGLOBIN SYRACUSE | 1 | Dec 12, 2017 |
| HEMOGLOBIN T (CAMBODIA) | 1 | Jul 20, 2016 |
| HEMOGLOBIN TA-LI | 1 | Dec 12, 2017 |
| HEMOGLOBIN TAGAWA I | 1 | May 10, 2018 |
| HEMOGLOBIN TAGAWA II | 1 | May 10, 2018 |
| HEMOGLOBIN TAK | 1 | Dec 12, 2017 |
| HEMOGLOBIN TAKAMATSU | 1 | Dec 12, 2017 |
| HEMOGLOBIN TAMANO | 1 | Jul 20, 2016 |
| HEMOGLOBIN TAMPA | 1 | Dec 12, 2017 |
| HEMOGLOBIN TARRANT | 1 | Mar 28, 2013 |
| HEMOGLOBIN TATRAS | 1 | Jul 20, 2016 |
| HEMOGLOBIN TAYBE | 1 | Jul 20, 2016 |
| HEMOGLOBIN TENDE | 1 | Dec 12, 2017 |
| HEMOGLOBIN TERRE HAUTE | 1 | Dec 12, 2017 |
| HEMOGLOBIN THAILAND | 1 | Jul 20, 2016 |
| HEMOGLOBIN THIONVILLE | 1 | Jul 20, 2016 |
| HEMOGLOBIN TIANSHUI | 1 | Dec 12, 2017 |
| HEMOGLOBIN TIGRAYE | 1 | Dec 12, 2017 |
| HEMOGLOBIN TILBURG | 1 | Dec 12, 2017 |
| HEMOGLOBIN TITUSVILLE | 1 | Jul 20, 2016 |
| HEMOGLOBIN TIZI-OUZOU | 1 | Dec 12, 2017 |
| HEMOGLOBIN TOCHIGI | 1 | Jul 20, 2016 |
| HEMOGLOBIN TOKONAME | 1 | Jul 20, 2016 |
| HEMOGLOBIN TOKUCHI | 1 | Dec 12, 2017 |
| HEMOGLOBIN TOKYO | 1 | Jul 20, 2016 |
| HEMOGLOBIN TONOSHO | 1 | Jul 20, 2016 |
| HEMOGLOBIN TORINO | 1 | Jul 20, 2016 |
| HEMOGLOBIN TOTTORI | 1 | Jul 20, 2016 |
| HEMOGLOBIN TOULON | 1 | Oct 13, 2016 |
| HEMOGLOBIN TOURS | 1 | Dec 12, 2017 |
| HEMOGLOBIN TOYAMA | 1 | Jul 20, 2016 |
| HEMOGLOBIN TOYOAKE | 1 | Dec 12, 2017 |
| HEMOGLOBIN TRENTO | 1 | Dec 12, 2017 |
| HEMOGLOBIN TRIPOLI | 1 | Dec 12, 2017 |
| HEMOGLOBIN TROLLHAETTAN | 1 | Dec 12, 2017 |
| HEMOGLOBIN TSUKUMI | 1 | Dec 12, 2017 |
| HEMOGLOBIN TSURUMAI | 1 | Dec 12, 2017 |
| HEMOGLOBIN TUNIS | 1 | Dec 12, 2017 |
| HEMOGLOBIN TUNIS-BIZERTE | 1 | Jul 20, 2016 |
| HEMOGLOBIN TURRIFF | 1 | Jul 20, 2016 |
| HEMOGLOBIN TWIN PEAKS | 1 | Jul 20, 2016 |
| HEMOGLOBIN TY GARD | 1 | Dec 12, 2017 |
| HEMOGLOBIN TYNE | 1 | Dec 12, 2017 |
| HEMOGLOBIN UBE-2 | 1 | Jul 20, 2016 |
| HEMOGLOBIN UBE-4 | 1 | Jul 20, 2016 |
| HEMOGLOBIN UMI | 1 | May 10, 2018 |
| HEMOGLOBIN UPPSALA | 1 | Jul 20, 2016 |
| HEMOGLOBIN UTSUNOMIYA | 1 | Jul 20, 2016 |
| HEMOGLOBIN VAASA | 1 | Dec 12, 2017 |
| HEMOGLOBIN VALLETTA | 1 | Dec 12, 2017 |
| HEMOGLOBIN VANCOUVER | 1 | Dec 12, 2017 |
| HEMOGLOBIN VANDERBILT | 1 | Dec 12, 2017 |
| HEMOGLOBIN VICKSBURG | 1 | Jul 20, 2016 |
| HEMOGLOBIN VILA REAL | 1 | Dec 12, 2017 |
| HEMOGLOBIN VILLAVERDE | 1 | Dec 12, 2017 |
| HEMOGLOBIN VILLEJUIF | 1 | Dec 12, 2017 |
| HEMOGLOBIN VILLEURBANNE | 1 | May 10, 2018 |
| HEMOGLOBIN VOLGA | 1 | Dec 12, 2017 |
| HEMOGLOBIN WARWICKSHIRE | 1 | Dec 12, 2017 |
| HEMOGLOBIN WASHTENAW | 1 | Dec 12, 2017 |
| HEMOGLOBIN WATFORD | 1 | Dec 12, 2017 |
| HEMOGLOBIN WATTS | 1 | Mar 28, 2013 |
| HEMOGLOBIN WAYNE | 1 | Aug 5, 2021 |
| HEMOGLOBIN WESTMEAD | 1 | May 10, 2018 |
| HEMOGLOBIN WIEN | 1 | Dec 12, 2017 |
| HEMOGLOBIN WILLAMETTE | 1 | Dec 12, 2017 |
| HEMOGLOBIN WINDSOR | 1 | Dec 12, 2017 |
| HEMOGLOBIN WINNIPEG | 1 | Jul 20, 2016 |
| HEMOGLOBIN WOOD | 1 | Dec 12, 2017 |
| HEMOGLOBIN WOODVILLE | 1 | Jul 20, 2016 |
| HEMOGLOBIN WUMING | 1 | Jul 20, 2016 |
| HEMOGLOBIN YAHATA | 1 | Dec 12, 2017 |
| HEMOGLOBIN YAIZU | 1 | Dec 12, 2017 |
| HEMOGLOBIN YAKIMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN YAMAGATA | 1 | Dec 12, 2017 |
| HEMOGLOBIN YAOUNDE | 1 | Dec 12, 2017 |
| HEMOGLOBIN YATSUSHIRO | 1 | Dec 12, 2017 |
| HEMOGLOBIN YOKOHAMA | 1 | Dec 12, 2017 |
| HEMOGLOBIN YORK | 1 | Dec 12, 2017 |
| HEMOGLOBIN YOSHIZUKA | 1 | Dec 12, 2017 |
| HEMOGLOBIN YPSILANTI | 1 | Dec 12, 2017 |
| HEMOGLOBIN YUDA | 1 | Jul 20, 2016 |
| HEMOGLOBIN YUKUHASHI-2 | 1 | May 10, 2018 |
| HEMOGLOBIN YUSA | 1 | Dec 12, 2017 |
| HEMOGLOBIN ZAIRE | 1 | Jul 20, 2016 |
| HEMOGLOBIN ZAMBIA | 1 | Jul 20, 2016 |
| HEMOGLOBIN ZENGCHENG | 1 | Dec 12, 2017 |
| HEMOGLOBIN ZIGUINCHOR | 2 | Dec 12, 2017 |
| HEMOGLOBIN ZOETERWOUDE | 1 | Dec 12, 2017 |
| HEMOGLOBIN ZURICH ALBISRIEDEN | 1 | Oct 13, 2016 |
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE | 4 | Nov 12, 2021 |
| HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME | 1 | Sep 19, 2016 |
| HEXB POLYMORPHISM | 2 | Apr 20, 2020 |
| HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM | 1 | Apr 20, 2020 |
| HFE INTRONIC POLYMORPHISM | 1 | Jun 9, 2016 |
| HFE POLYMORPHISM | 2 | Oct 21, 2016 |
| HIS2*1/HIS2*2 POLYMORPHISM | 1 | Aug 31, 2012 |
| HIV-1 viremia, susceptibility to | 1 | May 6, 2013 |
| HNSHA due to aldolase A deficiency | 2 | May 1, 2014 |
| HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE | 3 | Jan 12, 2018 |
| HPRT ANN ARBOR | 1 | Sep 10, 2020 |
| HPRT ARLINGTON | 1 | Sep 10, 2020 |
| HPRT ASHVILLE | 1 | Sep 10, 2020 |
| HPRT CHERMSIDE | 1 | Sep 10, 2020 |
| HPRT CHICAGO | 1 | Sep 10, 2020 |
| HPRT CONNERSVILLE | 1 | Sep 10, 2020 |
| HPRT COORPAROO | 1 | Sep 10, 2020 |
| HPRT DETROIT | 1 | Sep 26, 2017 |
| HPRT EDINBURGH | 1 | Sep 10, 2020 |
| HPRT EVANSVILLE | 1 | Sep 26, 2017 |
| HPRT FLINT | 1 | Sep 26, 2017 |
| HPRT FUJIMI | 1 | May 12, 2011 |
| HPRT LONDON | 1 | Sep 10, 2020 |
| HPRT MICHIGAN | 1 | Sep 10, 2020 |
| HPRT MIDLAND | 1 | Sep 26, 2017 |
| HPRT MILWAUKEE | 1 | Sep 10, 2020 |
| HPRT MONTREAL | 1 | May 12, 2011 |
| HPRT MOOSE JAW | 1 | Sep 10, 2020 |
| HPRT MUNICH | 1 | Sep 10, 2020 |
| HPRT NEW BRITON | 1 | Sep 26, 2017 |
| HPRT NEW HAVEN | 1 | Sep 26, 2017 |
| HPRT PARIS | 1 | Sep 27, 2017 |
| HPRT SWAN | 1 | May 12, 2011 |
| HPRT TOKYO | 1 | May 12, 2011 |
| HPRT TOOWONG | 1 | May 12, 2011 |
| HPRT TORONTO | 1 | Sep 10, 2020 |
| HPRT URANGAN | 1 | May 12, 2011 |
| HPRT YALE | 1 | May 12, 2011 |
| HSD10 mitochondrial disease | 8 | May 10, 2017 |
| HSD17B13 POLYMORPHISM | 1 | Nov 17, 2022 |
| HUMAN IMMUNODEFICIENCY VIRUS DEMENTIA, SUSCEPTIBILITY TO | 1 | Sep 6, 2016 |
| HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 5 | Jul 19, 2017 |
| HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 | 1 | Nov 22, 2019 |
| HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 | 1 | Nov 22, 2019 |
| HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) | 1 | Nov 22, 2019 |
| HYPERLIPOPROTEINEMIA, TYPE IV/V, DUE TO APOE2-DUNEDIN | 1 | Jun 8, 2023 |
| HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO | 1 | Sep 3, 2020 |
| HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO | 1 | Apr 9, 2018 |
| HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO | 1 | Dec 1, 2016 |
| HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO | 2 | Dec 19, 2013 |
| HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO | 3 | Oct 30, 2019 |
| HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | 5 | Jan 26, 2022 |
| HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | 2 | Dec 8, 2022 |
| HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY | 2 | Dec 8, 2022 |
| Haddad syndrome | 3 | Aug 26, 2021 |
| Haim-Munk syndrome | 1 | May 5, 2021 |
| Hair morphology 1, hair thickness | 1 | Aug 4, 2016 |
| Hajdu-Cheney syndrome | 7 | Sep 10, 2013 |
| Hamartoma of hypothalamus | 6 | Aug 10, 2020 |
| Hand-foot-genital syndrome | 7 | Nov 23, 2019 |
| Hao-Fountain syndrome | 5 | Jun 15, 2020 |
| Haptoglobin, alpha-2 | 1 | Sep 26, 2019 |
| Harderoporphyria | 3 | May 23, 2020 |
| Harel-Yoon syndrome | 2 | Mar 23, 2020 |
| Hartsfield-Bixler-Demyer syndrome | 3 | Aug 11, 2016 |
| Hashimoto thyroiditis, susceptibility to | 3 | Sep 5, 2020 |
| Hatipoglu immunodeficiency syndrome | 4 | Apr 25, 2023 |
| Hawkinsinuria | 2 | Nov 8, 2021 |
| Hb D-Los Angeles | 1 | Dec 12, 2017 |
| Hb SS disease | 1 | Sep 15, 2023 |
| Hearing loss, X-linked 1 | 6 | Sep 23, 2016 |
| Hearing loss, X-linked 4 | 5 | Apr 13, 2022 |
| Hearing loss, X-linked 6 | 1 | Apr 2, 2021 |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 | Nov 28, 2017 |
| Hearing loss, autosomal dominant 37 | 4 | May 24, 2021 |
| Hearing loss, autosomal dominant 71 | 2 | May 5, 2021 |
| Hearing loss, autosomal dominant 72 | 1 | Sep 19, 2018 |
| Hearing loss, autosomal dominant 73 | 1 | Jun 7, 2018 |
| Hearing loss, autosomal dominant 74 | 1 | Oct 12, 2018 |
| Hearing loss, autosomal dominant 75 | 1 | Feb 18, 2020 |
| Hearing loss, autosomal dominant 76 | 4 | Feb 26, 2020 |
| Hearing loss, autosomal dominant 77 | 1 | Jun 19, 2020 |
| Hearing loss, autosomal dominant 78 | 5 | Nov 9, 2020 |
| Hearing loss, autosomal dominant 79 | 1 | Nov 9, 2020 |
| Hearing loss, autosomal dominant 80 | 4 | Apr 14, 2021 |
| Hearing loss, autosomal dominant 81 | 1 | Aug 24, 2021 |
| Hearing loss, autosomal dominant 82 | 4 | Mar 25, 2022 |
| Hearing loss, autosomal dominant 83 | 1 | Apr 1, 2022 |
| Hearing loss, autosomal dominant 84 | 2 | Mar 31, 2022 |
| Hearing loss, autosomal dominant 85 | 2 | Jan 27, 2023 |
| Hearing loss, autosomal dominant 86 | 1 | Mar 13, 2023 |
| Hearing loss, autosomal dominant 87 | 4 | Mar 13, 2023 |
| Hearing loss, autosomal dominant 88 | 1 | Mar 13, 2023 |
| Hearing loss, autosomal dominant 89 | 1 | Mar 13, 2023 |
| Hearing loss, autosomal dominant 90 | 1 | Feb 16, 2024 |
| Hearing loss, autosomal recessive | 2 | Jun 13, 2017 |
| Hearing loss, autosomal recessive 100 | 1 | May 8, 2019 |
| Hearing loss, autosomal recessive 106 | 2 | Aug 23, 2017 |
| Hearing loss, autosomal recessive 107 | 3 | Aug 24, 2017 |
| Hearing loss, autosomal recessive 108 | 1 | Sep 13, 2017 |
| Hearing loss, autosomal recessive 109 | 2 | Sep 21, 2018 |
| Hearing loss, autosomal recessive 110 | 1 | Aug 29, 2018 |
| Hearing loss, autosomal recessive 111 | 2 | Feb 22, 2019 |
| Hearing loss, autosomal recessive 112 | 1 | Jul 30, 2019 |
| Hearing loss, autosomal recessive 113 | 2 | Aug 3, 2021 |
| Hearing loss, autosomal recessive 114 | 1 | Aug 3, 2021 |
| Hearing loss, autosomal recessive 115 | 2 | Jun 3, 2019 |
| Hearing loss, autosomal recessive 116 | 3 | Jul 22, 2024 |
| Hearing loss, autosomal recessive 117 | 1 | Aug 10, 2021 |
| Hearing loss, autosomal recessive 119 | 4 | Nov 17, 2021 |
| Hearing loss, autosomal recessive 120 | 3 | Feb 8, 2023 |
| Hearing loss, autosomal recessive 121 | 2 | Oct 24, 2023 |
| Hearing loss, autosomal recessive 122 | 2 | Feb 16, 2024 |
| Hearing loss, autosomal recessive 123 | 1 | Mar 4, 2024 |
| Hearing loss, autosomal recessive 125 | 1 | Jul 5, 2024 |
| Hearing loss, autosomal recessive 57 | 10 | Jun 4, 2018 |
| Hearing loss, autosomal recessive 94 | 1 | May 29, 2019 |
| Hearing loss, autosomal recessive 99 | 3 | Sep 4, 2020 |
| Heart and brain malformation syndrome | 4 | Feb 12, 2024 |
| Heart block, nonprogressive | 1 | Mar 8, 2013 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 3 | Sep 24, 2020 |
| Heart-hand syndrome, Slovenian type | 2 | Mar 11, 2022 |
| Hecht syndrome | 1 | May 22, 2019 |
| Heimler syndrome 1 | 5 | Nov 3, 2015 |
| Heimler syndrome 2 | 5 | Nov 25, 2020 |
| Heinz body anemia | 8 | Dec 12, 2017 |
| Helicobacter pylori infection, susceptibility to | 1 | Feb 12, 2013 |
| Helicoid peripapillary chorioretinal degeneration | 2 | Nov 11, 2022 |
| Hematuria, benign familial, 1 | 3 | Jan 31, 2019 |
| Heme oxygenase 1 deficiency | 7 | Mar 15, 2022 |
| Hemochromatosis type 1 | 10 | May 2, 2018 |
| Hemochromatosis type 2A | 9 | Feb 2, 2017 |
| Hemochromatosis type 2B | 3 | Sep 7, 2016 |
| Hemochromatosis type 3 | 4 | Oct 24, 2018 |
| Hemochromatosis type 4 | 9 | Oct 24, 2018 |
| Hemochromatosis type 5 | 1 | Nov 7, 2014 |
| Hemochromatosis, juvenile, digenic | 1 | Nov 28, 2012 |
| Hemochromatosis, type 1, modifier of | 1 | Mar 1, 2018 |
| Hemochromatosis, type 2a, modifier of | 1 | Sep 7, 2016 |
| Hemoglobin E | 1 | Jul 16, 2019 |
| Hemoglobin E/beta thalassemia disease | 1 | Jul 16, 2019 |
| Hemoglobin H disease, nondeletional | 11 | May 21, 2018 |
| Hemoglobin Lepore trait | 3 | Dec 12, 2017 |
| Hemoglobin Quong Sze | 1 | Mar 28, 2013 |
| Hemoglobin Val de Marne | 1 | Mar 28, 2013 |
| Hemoglobin Zurich | 1 | Dec 12, 2017 |
| Hemoglobin constant spring | 1 | May 21, 2018 |
| Hemoglobin, high altitude adaptation | 1 | Feb 13, 2020 |
| Hemoglobinopathy | 10 | Aug 3, 2021 |
| Hemolytic anemia | 2 | Dec 12, 2017 |
| Hemolytic anemia due to adenylate kinase deficiency | 7 | May 14, 2015 |
| Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | 2 | Jun 17, 2022 |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 10 | Sep 12, 2017 |
| Hemolytic anemia due to glutathione reductase deficiency | 3 | Dec 2, 2019 |
| Hemolytic anemia due to hexokinase deficiency | 3 | Apr 27, 2017 |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 10 | Oct 20, 2017 |
| Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | 2 | Jul 11, 2023 |
| Hemolytic uremic syndrome, atypical, susceptibility to | 1 | Jun 29, 2017 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 9 | Jun 11, 2019 |
| Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to | 1 | Aug 21, 2019 |
| Hemophagocytic lymphohistiocytosis, familial, 6 | 1 | Jan 26, 2021 |
| Hemophilia B Brandenburg | 1 | Dec 11, 2017 |
| Hemophilia B leyden | 6 | Dec 11, 2017 |
| Hemophilia b(m) | 2 | Oct 9, 2017 |
| Hemorrhage, intracerebral, susceptibility to | 6 | Mar 18, 2022 |
| Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | 1 | Jul 15, 2016 |
| Hengel-Maroofian-Schols syndrome | 5 | Dec 2, 2021 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 6 | Sep 23, 2014 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 5 | Apr 26, 2017 |
| Hennekam lymphangiectasia-lymphedema syndrome 3 | 3 | May 10, 2019 |
| Heparin cofactor II deficiency | 4 | Oct 7, 2014 |
| Hepatic adenomas, familial | 1 | Sep 4, 2020 |
| Hepatic methionine adenosyltransferase deficiency | 10 | Mar 27, 2017 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 2 | Nov 26, 2014 |
| Hepatitis B virus, resistance to | 1 | Apr 7, 2021 |
| Hepatitis B virus, susceptibility to | 3 | Apr 11, 2013 |
| Hepatitis C virus infection, response to therapy of | 1 | Sep 15, 2016 |
| Hepatitis, fulminant viral, susceptibility to | 1 | Aug 22, 2019 |
| Hepatoblastoma | 5 | Dec 19, 2016 |
| Hepatocellular carcinoma | 13 | Oct 5, 2021 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 4 | Sep 18, 2015 |
| Hepatoerythropoietic porphyria | 5 | Sep 6, 2018 |
| Hepatorenocardiac degenerative fibrosis | 6 | May 27, 2022 |
| Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | 6 | Jun 11, 2021 |
| Hereditary North American Indian childhood cirrhosis | 1 | Sep 2, 2016 |
| Hereditary acrodermatitis enteropathica | 12 | Aug 3, 2015 |
| Hereditary angioedema type 1 | 10 | Jun 14, 2021 |
| Hereditary angioedema type 3 | 2 | Aug 5, 2019 |
| Hereditary antithrombin deficiency | 43 | Sep 6, 2017 |
| Hereditary arterial and articular multiple calcification syndrome | 3 | Oct 3, 2017 |
| Hereditary cerebral amyloid angiopathy, Icelandic type | 1 | Apr 23, 2021 |
| Hereditary cryohydrocytosis with reduced stomatin | 2 | Mar 25, 2017 |
| Hereditary diffuse leukoencephalopathy with spheroids | 9 | Aug 20, 2018 |
| Hereditary factor IX deficiency disease | 91 | Oct 9, 2017 |
| Hereditary factor VIII deficiency disease | 264 | Mar 27, 2018 |
| Hereditary factor XI deficiency disease | 16 | Sep 19, 2016 |
| Hereditary fructosuria | 15 | Apr 29, 2020 |
| Hereditary hypercarotenemia and vitamin A deficiency | 1 | Jan 5, 2018 |
| Hereditary hyperferritinemia with congenital cataracts | 13 | Jan 8, 2018 |
| Hereditary hypotrichosis with recurrent skin vesicles | 2 | May 3, 2021 |
| Hereditary insensitivity to pain with anhidrosis | 14 | May 5, 2020 |
| Hereditary intrinsic factor deficiency | 6 | Apr 20, 2010 |
| Hereditary leiomyomatosis and renal cell cancer | 7 | Aug 9, 2016 |
| Hereditary liability to pressure palsies | 7 | Jul 12, 2018 |
| Hereditary lymphedema type I | 10 | Dec 18, 2018 |
| Hereditary motor and sensory neuropathy with optic atrophy | 5 | Aug 29, 2016 |
| Hereditary motor and sensory neuropathy, Okinawa type | 2 | Mar 16, 2021 |
| Hereditary mucoepithelial dysplasia | 2 | Feb 3, 2021 |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | 2 | Feb 5, 2018 |
| Hereditary neutrophilia | 1 | Oct 7, 2016 |
| Hereditary pancreatitis | 16 | Jan 14, 2021 |
| Hereditary persistence of fetal hemoglobin | 14 | Mar 24, 2021 |
| Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 3 | Mar 24, 2014 |
| Hereditary sensory and autonomic neuropathy type 1 | 1 | Nov 4, 2019 |
| Hereditary sensory and autonomic neuropathy type 6 | 5 | Jun 28, 2022 |
| Hereditary sensory and autonomic neuropathy type 7 | 1 | Mar 20, 2019 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 | Jun 4, 2009 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 3 | Jan 8, 2018 |
| Hereditary spastic paraplegia 10 | 10 | Dec 7, 2016 |
| Hereditary spastic paraplegia 11 | 12 | May 17, 2019 |
| Hereditary spastic paraplegia 12 | 5 | Jul 1, 2024 |
| Hereditary spastic paraplegia 13 | 2 | Sep 13, 2018 |
| Hereditary spastic paraplegia 15 | 6 | Dec 15, 2017 |
| Hereditary spastic paraplegia 17 | 2 | Dec 17, 2020 |
| Hereditary spastic paraplegia 18 | 2 | Feb 17, 2014 |
| Hereditary spastic paraplegia 2 | 5 | Dec 2, 2016 |
| Hereditary spastic paraplegia 23 | 1 | May 13, 2019 |
| Hereditary spastic paraplegia 26 | 5 | Sep 9, 2013 |
| Hereditary spastic paraplegia 28 | 4 | May 15, 2015 |
| Hereditary spastic paraplegia 30 | 3 | Apr 16, 2020 |
| Hereditary spastic paraplegia 31 | 7 | Aug 30, 2022 |
| Hereditary spastic paraplegia 33 | 1 | Jul 12, 2016 |
| Hereditary spastic paraplegia 35 | 8 | Nov 24, 2021 |
| Hereditary spastic paraplegia 39 | 5 | Sep 26, 2016 |
| Hereditary spastic paraplegia 3A | 11 | Nov 6, 2014 |
| Hereditary spastic paraplegia 4 | 19 | Oct 9, 2019 |
| Hereditary spastic paraplegia 42 | 2 | Nov 28, 2023 |
| Hereditary spastic paraplegia 43 | 1 | Mar 8, 2022 |
| Hereditary spastic paraplegia 44 | 1 | Nov 15, 2016 |
| Hereditary spastic paraplegia 45 | 5 | Aug 21, 2018 |
| Hereditary spastic paraplegia 46 | 8 | Feb 10, 2015 |
| Hereditary spastic paraplegia 47 | 4 | Nov 6, 2015 |
| Hereditary spastic paraplegia 48 | 6 | Jan 26, 2017 |
| Hereditary spastic paraplegia 49 | 7 | Oct 19, 2021 |
| Hereditary spastic paraplegia 50 | 4 | Jul 29, 2021 |
| Hereditary spastic paraplegia 51 | 4 | Oct 6, 2021 |
| Hereditary spastic paraplegia 53 | 1 | Oct 5, 2016 |
| Hereditary spastic paraplegia 54 | 8 | Sep 15, 2015 |
| Hereditary spastic paraplegia 55 | 5 | Jul 19, 2017 |
| Hereditary spastic paraplegia 56 | 9 | May 17, 2022 |
| Hereditary spastic paraplegia 57 | 1 | Mar 16, 2021 |
| Hereditary spastic paraplegia 5A | 10 | Aug 20, 2020 |
| Hereditary spastic paraplegia 6 | 3 | Mar 5, 2018 |
| Hereditary spastic paraplegia 61 | 4 | Feb 26, 2024 |
| Hereditary spastic paraplegia 62 | 2 | May 13, 2019 |
| Hereditary spastic paraplegia 63 | 1 | May 13, 2019 |
| Hereditary spastic paraplegia 64 | 5 | Jan 24, 2023 |
| Hereditary spastic paraplegia 7 | 13 | Nov 2, 2023 |
| Hereditary spastic paraplegia 72 | 2 | Nov 29, 2023 |
| Hereditary spastic paraplegia 73 | 1 | Aug 11, 2016 |
| Hereditary spastic paraplegia 74 | 1 | Sep 13, 2019 |
| Hereditary spastic paraplegia 75 | 2 | Dec 7, 2015 |
| Hereditary spastic paraplegia 77 | 6 | Jan 30, 2018 |
| Hereditary spastic paraplegia 8 | 4 | Nov 7, 2019 |
| Hereditary spastic paraplegia 9A | 4 | Jan 11, 2016 |
| Hereditary spherocytosis type 1 | 4 | Dec 11, 2017 |
| Hereditary spherocytosis type 2 | 5 | Apr 25, 2018 |
| Hereditary spherocytosis type 3 | 2 | Mar 12, 2020 |
| Hereditary spherocytosis type 4 | 13 | Aug 27, 2020 |
| Hereditary spherocytosis type 5 | 5 | Nov 18, 2015 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 8 | Oct 10, 2016 |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | 3 | May 16, 2018 |
| Hereditary xanthinuria type 1 | 3 | Jul 27, 2016 |
| Hermansky-Pudlak syndrome 1 | 7 | Jun 16, 2020 |
| Hermansky-Pudlak syndrome 10 | 1 | Jul 27, 2016 |
| Hermansky-Pudlak syndrome 11 | 2 | Jan 29, 2021 |
| Hermansky-Pudlak syndrome 2 | 8 | Sep 30, 2019 |
| Hermansky-Pudlak syndrome 3 | 7 | Oct 5, 2016 |
| Hermansky-Pudlak syndrome 4 | 10 | Jul 27, 2017 |
| Hermansky-Pudlak syndrome 5 | 7 | Aug 2, 2017 |
| Hermansky-Pudlak syndrome 6 | 10 | Dec 3, 2020 |
| Hermansky-Pudlak syndrome 7 | 2 | Feb 5, 2018 |
| Hermansky-Pudlak syndrome 8 | 2 | Aug 2, 2017 |
| Hermansky-Pudlak syndrome 9 | 6 | Aug 6, 2024 |
| Hernia, anterior diaphragmatic | 3 | Nov 15, 2023 |
| Herpes simplex encephalitis, susceptibility to, 1 | 2 | Mar 15, 2018 |
| Herpes simplex encephalitis, susceptibility to, 3 | 1 | Mar 14, 2018 |
| Herpes simplex encephalitis, susceptibility to, 4 | 4 | Mar 15, 2018 |
| Heterotaxy, visceral, 1, X-linked | 7 | Feb 13, 2020 |
| Heterotaxy, visceral, 10, autosomal, with male infertility | 3 | Nov 5, 2021 |
| Heterotaxy, visceral, 11, autosomal, with male infertility | 4 | Nov 5, 2021 |
| Heterotaxy, visceral, 12, autosomal | 6 | Mar 15, 2022 |
| Heterotaxy, visceral, 2, autosomal | 3 | Nov 16, 2015 |
| Heterotaxy, visceral, 4, autosomal | 2 | Feb 23, 2011 |
| Heterotaxy, visceral, 5, autosomal | 4 | Sep 25, 2019 |
| Heterotaxy, visceral, 6, autosomal | 3 | Jan 14, 2022 |
| Heterotaxy, visceral, 7, autosomal | 12 | May 6, 2024 |
| Heterotaxy, visceral, 8, autosomal | 7 | May 12, 2023 |
| Heterotaxy, visceral, 9, autosomal, with male infertility | 2 | Aug 28, 2020 |
| Heterotopia, periventricular, X-linked dominant | 14 | Jul 1, 2020 |
| Heterotopia, periventricular, with frontometaphyseal dysplasia | 1 | Jan 5, 2018 |
| Hexa, dn allele | 1 | Apr 6, 2018 |
| Hexosaminidase B (Paris) | 1 | Nov 4, 2009 |
| Heyn-Sproul-Jackson syndrome | 2 | Jan 2, 2020 |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 4 | May 6, 2021 |
| Hidrotic ectodermal dysplasia syndrome | 3 | May 26, 2022 |
| High bone mass | 1 | Feb 21, 2018 |
| High density lipoprotein cholesterol level quantitative trait locus 10 | 2 | Jun 17, 2011 |
| High density lipoprotein cholesterol level quantitative trait locus 11 | 2 | May 30, 2019 |
| High density lipoprotein cholesterol level quantitative trait locus 12 | 3 | Jun 25, 2021 |
| High density lipoprotein cholesterol level quantitative trait locus 6 | 4 | Oct 17, 2019 |
| High density lipoprotein cholesterol level quantitative trait locus 7 | 1 | Aug 10, 2020 |
| High density lipoprotein deficiency, Detroit type | 1 | Aug 19, 2019 |
| High molecular weight kininogen deficiency | 3 | Oct 21, 2016 |
| High myopia-sensorineural deafness syndrome | 3 | Jan 9, 2015 |
| Hip dysplasia, Beukes type | 1 | May 14, 2018 |
| Hirschsprung disease, cardiac defects, and autonomic dysfunction | 1 | Nov 17, 2016 |
| Hirschsprung disease, protection against | 1 | Mar 31, 2014 |
| Hirschsprung disease, susceptibility to, 1 | 17 | Aug 19, 2021 |
| Hirschsprung disease, susceptibility to, 2 | 6 | Dec 1, 2016 |
| Hirschsprung disease, susceptibility to, 3 | 4 | Aug 13, 2021 |
| Hirschsprung disease, susceptibility to, 4 | 3 | Feb 21, 2018 |
| Hirschsprung disease-ganglioneuroblastoma syndrome | 2 | Feb 20, 2018 |
| Hirschsprung disease-intellectual disability syndrome, late infantile | 1 | Nov 26, 2012 |
| Histidinemia | 4 | Nov 7, 2017 |
| Histiocytic medullary reticulosis | 19 | May 4, 2021 |
| Histiocytoid cardiomyopathy | 1 | May 24, 2011 |
| Hogue-Janssens syndrome 1 | 5 | Oct 2, 2019 |
| Holocarboxylase synthetase deficiency | 9 | Sep 15, 2015 |
| Holoprosencephaly 1 | 2 | May 24, 2017 |
| Holoprosencephaly 11 | 4 | Feb 19, 2021 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 1 | Sep 29, 2020 |
| Holoprosencephaly 13, X-linked | 3 | Apr 13, 2020 |
| Holoprosencephaly 14 | 2 | May 26, 2022 |
| Holoprosencephaly 2 | 8 | Oct 20, 2017 |
| Holoprosencephaly 3 | 17 | Sep 21, 2018 |
| Holoprosencephaly 4 | 6 | Dec 13, 2021 |
| Holoprosencephaly 5 | 6 | Nov 8, 2019 |
| Holoprosencephaly 7 | 5 | May 18, 2018 |
| Holoprosencephaly 9 | 7 | Dec 13, 2021 |
| Holt-Oram syndrome | 10 | Jan 11, 2017 |
| Homocysteine level elevated | 1 | Aug 13, 2020 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 10 | Feb 28, 2017 |
| Homocystinuria, pyridoxine-nonresponsive | 3 | Jul 19, 2017 |
| Homocystinuria, pyridoxine-responsive | 11 | Jul 19, 2017 |
| Houge-Janssens syndrome 2 | 3 | Nov 2, 2015 |
| Houge-Janssens syndrome 3 | 6 | Mar 13, 2019 |
| Hoxha-Aliu syndrome | 3 | Dec 21, 2023 |
| Human HOXA1 syndromes | 1 | Aug 27, 2020 |
| Human immunodeficiency virus type 1, delayed disease progression with infection by | 1 | May 3, 2012 |
| Human immunodeficiency virus type 1, increased perinatal transmission of | 1 | Oct 10, 2016 |
| Human immunodeficiency virus type 1, rapid disease progression with infection by | 1 | Nov 9, 2016 |
| Human immunodeficiency virus type 1, rapid progression to AIDS | 1 | Sep 5, 2014 |
| Humerofemoral hypoplasia with radiotibial ray deficiency | 1 | Jan 18, 2022 |
| Huntington disease | 1 | Oct 31, 2019 |
| Huntington disease-like 1 | 1 | Nov 4, 2019 |
| Huntington disease-like 2 | 1 | Nov 1, 2019 |
| Huppke-Brendel syndrome | 7 | Feb 16, 2024 |
| Hurler syndrome | 12 | Sep 8, 2020 |
| Hurthle cell carcinoma of thyroid | 1 | Oct 5, 2016 |
| Hutchinson-Gilford progeria syndrome, atypical | 4 | Mar 11, 2022 |
| Hutchinson-Gilford progeria syndrome, childhood-onset | 2 | Mar 11, 2022 |
| Hutchinson-Gilford syndrome | 4 | Mar 14, 2022 |
| Hyaline fibromatosis syndrome | 8 | Nov 6, 2014 |
| Hydatidiform mole, recurrent, 1 | 12 | Jul 19, 2018 |
| Hydatidiform mole, recurrent, 2 | 4 | Jul 31, 2015 |
| Hydatidiform mole, recurrent, 3 | 3 | May 15, 2019 |
| Hydatidiform mole, recurrent, 4 | 2 | May 15, 2019 |
| Hydranencephaly with abnormal genitalia | 1 | Aug 23, 2016 |
| Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction | 1 | Apr 23, 2017 |
| Hydrocephalus, congenital communicating, 1 | 2 | Nov 22, 2019 |
| Hydrocephalus, congenital, 3, with brain anomalies | 2 | Jul 10, 2018 |
| Hydrocephalus, congenital, 5, susceptibility to | 4 | Feb 15, 2023 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 4 | Mar 20, 2019 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 5 | Jul 10, 2018 |
| Hydrolethalus syndrome 1 | 1 | Mar 23, 2021 |
| Hydrolethalus syndrome 2 | 1 | Mar 20, 2020 |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 6 | Jan 15, 2021 |
| Hydroxykynureninuria | 1 | Oct 30, 2017 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 7 | Jul 31, 2019 |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 5 | Feb 4, 2019 |
| Hyper-IgE recurrent infection syndrome 4, autosomal recessive | 4 | Feb 23, 2022 |
| Hyper-IgE recurrent infection syndrome 4A, autosomal dominant | 4 | Feb 23, 2022 |
| Hyper-IgE recurrent infection syndrome 5, autosomal recessive | 2 | Jul 21, 2020 |
| Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections | 6 | Oct 5, 2023 |
| Hyper-IgM syndrome type 1 | 15 | Jul 7, 2022 |
| Hyper-IgM syndrome type 2 | 9 | Aug 10, 2015 |
| Hyper-IgM syndrome type 3 | 4 | Mar 29, 2021 |
| Hyper-IgM syndrome type 5 | 4 | Feb 6, 2015 |
| Hyperaldosteronism, familial, type IV | 1 | Jul 12, 2016 |
| Hyperalphalipoproteinemia 1 | 3 | Dec 9, 2013 |
| Hyperammonemia, type III | 8 | Feb 11, 2015 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 4 | Sep 25, 2018 |
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | 2 | Apr 29, 2013 |
| Hyperapobetalipoproteinemia, susceptibility to | 1 | Feb 8, 2018 |
| Hyperbiliverdinemia | 2 | Jul 16, 2019 |
| Hypercalcemia, infantile, 1 | 7 | May 26, 2016 |
| Hypercalcemia, infantile, 2 | 6 | Oct 6, 2016 |
| Hypercalciuria, childhood, self-limiting | 1 | Jun 29, 2018 |
| Hypercholanemia, familial 1 | 3 | Apr 8, 2021 |
| Hypercholanemia, familial, 2 | 3 | Apr 7, 2021 |
| Hypercholesterolemia, autosomal dominant, 3 | 3 | Jun 20, 2019 |
| Hypercholesterolemia, autosomal dominant, type B | 2 | Jun 20, 2019 |
| Hypercholesterolemia, familial, 1 | 69 | Aug 20, 2019 |
| Hypercholesterolemia, familial, 4 | 11 | Jun 19, 2019 |
| Hypercholesterolemia, susceptibility to | 2 | Apr 28, 2017 |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | 1 | Sep 20, 2019 |
| Hyperekplexia | 1 | Jun 5, 2012 |
| Hyperekplexia 1 | 15 | Aug 12, 2016 |
| Hyperekplexia 2 | 4 | Jul 29, 2022 |
| Hyperekplexia 3 | 8 | Aug 14, 2019 |
| Hyperekplexia 4 | 3 | Mar 17, 2020 |
| Hyperemesis gravidarum, susceptibility to | 1 | Feb 22, 2024 |
| Hypereosinophilic syndrome, idiopathic, resistant to imatinib | 1 | Jan 11, 2017 |
| Hyperglycinuria | 3 | Sep 24, 2010 |
| Hyperimmunoglobulin D with periodic fever | 10 | Jun 2, 2022 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 16 | Apr 30, 2020 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 9 | Dec 17, 2020 |
| Hyperinsulinemic hypoglycemia, familial, 4 | 5 | Mar 27, 2015 |
| Hyperinsulinemic hypoglycemia, familial, 8 | 2 | Jan 27, 2023 |
| Hyperinsulinism due to INSR deficiency | 1 | Dec 5, 2016 |
| Hyperinsulinism due to glucokinase deficiency | 4 | Apr 4, 2013 |
| Hyperinsulinism-hyperammonemia syndrome | 9 | Feb 12, 2018 |
| Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations | 1 | Oct 18, 2016 |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 4 | Jun 25, 2021 |
| Hyperlipidemia, familial combined, susceptibility to | 6 | Jun 24, 2019 |
| Hyperlipoproteinemia due to APOE1 | 1 | Nov 22, 2019 |
| Hyperlipoproteinemia, type 1D | 10 | Jan 11, 2022 |
| Hyperlipoproteinemia, type I | 35 | Jun 29, 2018 |
| Hyperlipoproteinemia, type III, due to APOE2 | 1 | Jan 10, 2018 |
| Hyperlysinemia | 7 | Apr 21, 2020 |
| Hypermanganesemia with dystonia 2 | 9 | Jan 19, 2022 |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 5 | Jun 24, 2021 |
| Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 | 1 | Nov 10, 2022 |
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 6 | Feb 6, 2024 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 9 | Nov 12, 2009 |
| Hyperostosis cranialis interna | 1 | May 2, 2018 |
| Hyperparathyroidism 1 | 4 | Jul 24, 2018 |
| Hyperparathyroidism 2 with jaw tumors | 6 | Jul 24, 2018 |
| Hyperparathyroidism 4 | 2 | Feb 10, 2017 |
| Hyperparathyroidism, transient neonatal | 6 | Nov 14, 2018 |
| Hyperphenylalaninemia | 14 | Oct 20, 2016 |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 9 | Nov 1, 2019 |
| Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency | 4 | Oct 21, 2016 |
| Hyperphosphatasemia with bone disease | 7 | Apr 21, 2017 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 6 | Jan 10, 2018 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 3 | Jan 10, 2018 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 5 | Aug 29, 2019 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 7 | Sep 20, 2021 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 7 | Sep 8, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 6 | 2 | Jan 10, 2018 |
| Hyperpigmentation with or without hypopigmentation, familial progressive | 3 | Aug 6, 2021 |
| Hyperproinsulinemia | 7 | Sep 3, 2020 |
| Hyperprolinemia type 2 | 3 | Mar 11, 2015 |
| Hyperproreninemia, familial | 1 | May 2, 2013 |
| Hypersulfaturia | 1 | May 11, 2023 |
| Hypertension resistant to conventional therapy | 1 | Mar 12, 2015 |
| Hypertension, diastolic, resistance to | 1 | Feb 20, 2020 |
| Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | 1 | Oct 6, 2010 |
| Hypertension, essential, susceptibility to | 6 | Jun 8, 2021 |
| Hypertension, pregnancy-induced, susceptibility to | 1 | Mar 12, 2015 |
| Hypertension, salt-sensitive essential, susceptibility to | 2 | Aug 31, 2012 |
| Hyperthyroxinemia, dystransthyretinemic | 2 | Aug 23, 2016 |
| Hyperthyroxinemia, familial dysalbuminemic | 3 | Jun 3, 2021 |
| Hypertrichotic osteochondrodysplasia Cantu type | 8 | Feb 7, 2013 |
| Hypertriglyceridemia 1 | 5 | Jun 1, 2021 |
| Hypertriglyceridemia 2 | 3 | May 17, 2021 |
| Hypertrophic cardiomyopathy 1 | 30 | Nov 7, 2016 |
| Hypertrophic cardiomyopathy 10 | 5 | Jul 13, 2018 |
| Hypertrophic cardiomyopathy 11 | 5 | Oct 6, 2016 |
| Hypertrophic cardiomyopathy 12 | 4 | Sep 13, 2016 |
| Hypertrophic cardiomyopathy 13 | 5 | Dec 4, 2012 |
| Hypertrophic cardiomyopathy 14 | 2 | Apr 17, 2018 |
| Hypertrophic cardiomyopathy 15 | 2 | Apr 17, 2013 |
| Hypertrophic cardiomyopathy 16 | 2 | Jul 1, 2014 |
| Hypertrophic cardiomyopathy 17 | 4 | Apr 27, 2018 |
| Hypertrophic cardiomyopathy 18 | 3 | May 20, 2011 |
| Hypertrophic cardiomyopathy 19 | 1 | Nov 20, 2018 |
| Hypertrophic cardiomyopathy 2 | 5 | Nov 3, 2010 |
| Hypertrophic cardiomyopathy 20 | 2 | Nov 23, 2016 |
| Hypertrophic cardiomyopathy 25 | 4 | Sep 25, 2018 |
| Hypertrophic cardiomyopathy 26 | 7 | Jun 26, 2023 |
| Hypertrophic cardiomyopathy 3 | 3 | Jan 15, 2019 |
| Hypertrophic cardiomyopathy 4 | 25 | Aug 3, 2021 |
| Hypertrophic cardiomyopathy 6 | 9 | Oct 19, 2017 |
| Hypertrophic cardiomyopathy 7 | 8 | Aug 17, 2018 |
| Hypertrophic cardiomyopathy 8 | 3 | Sep 6, 2018 |
| Hypertrophic cardiomyopathy 9 | 1 | May 8, 2013 |
| Hypertrophic osteoarthropathy, primary, autosomal dominant | 6 | Jun 23, 2021 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 7 | Jul 23, 2020 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 33 | Feb 13, 2024 |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 2 | Dec 1, 2021 |
| Hyperuricemic nephropathy, familial juvenile type 4 | 2 | Feb 9, 2021 |
| Hypervalinemia and hyperleucine-isoleucinemia | 7 | Aug 26, 2024 |
| Hyperzincemia with functional zinc depletion | 2 | Sep 23, 2024 |
| Hypoalphalipoproteinemia, primary, 1 | 4 | Feb 15, 2018 |
| Hypoalphalipoproteinemia, primary, 2 | 6 | Mar 18, 2020 |
| Hypoalphalipoproteinemia, primary, 2, intermediate | 2 | May 17, 2024 |
| Hypochondrogenesis | 3 | Mar 2, 2017 |
| Hypochondroplasia | 12 | Oct 20, 2017 |
| Hypodysfibrinogenemia | 1 | Sep 26, 2014 |
| Hypogammaglobulinemia, X-linked | 1 | Oct 30, 2018 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 14 | Dec 23, 2019 |
| Hypogonadotropic hypogonadism 10 with or without anosmia | 1 | Oct 14, 2013 |
| Hypogonadotropic hypogonadism 10 without anosmia | 1 | Oct 16, 2012 |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 4 | Dec 9, 2013 |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 1 | Jan 21, 2020 |
| Hypogonadotropic hypogonadism 13 with or without anosmia | 1 | Feb 17, 2022 |
| Hypogonadotropic hypogonadism 14 with anosmia | 1 | Oct 11, 2012 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 2 | Oct 11, 2012 |
| Hypogonadotropic hypogonadism 15 with anosmia | 4 | Dec 1, 2016 |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 6 | Nov 22, 2021 |
| Hypogonadotropic hypogonadism 17 with or without anosmia | 4 | Apr 19, 2017 |
| Hypogonadotropic hypogonadism 18 with anosmia | 3 | Jun 5, 2013 |
| Hypogonadotropic hypogonadism 19 with or without anosmia | 4 | Aug 7, 2017 |
| Hypogonadotropic hypogonadism 2 with anosmia | 14 | Sep 13, 2017 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 9 | Aug 11, 2016 |
| Hypogonadotropic hypogonadism 20 with or without anosmia | 2 | Aug 4, 2016 |
| Hypogonadotropic hypogonadism 20 without anosmia | 1 | Aug 4, 2016 |
| Hypogonadotropic hypogonadism 21 with or without anosmia | 1 | Oct 30, 2019 |
| Hypogonadotropic hypogonadism 22 with anosmia | 2 | Jan 16, 2018 |
| Hypogonadotropic hypogonadism 24 without anosmia | 4 | Aug 4, 2016 |
| Hypogonadotropic hypogonadism 25 with anosmia | 3 | Apr 7, 2020 |
| Hypogonadotropic hypogonadism 27 without anosmia | 1 | Feb 18, 2022 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 7 | Jun 29, 2015 |
| Hypogonadotropic hypogonadism 3 without anosmia | 2 | Oct 24, 2014 |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 6 | Oct 24, 2014 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 3 | Jun 26, 2017 |
| Hypogonadotropic hypogonadism 5 without anosmia | 1 | Sep 28, 2012 |
| Hypogonadotropic hypogonadism 6 with or without anosmia | 8 | Dec 18, 2018 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 14 | Feb 18, 2022 |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 1 | Aug 11, 2016 |
| Hypogonadotropic hypogonadism 8 without anosmia | 6 | Aug 11, 2016 |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 2 | Nov 6, 2014 |
| Hypohaptoglobinemia | 1 | Nov 2, 2012 |
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | 1 | Mar 5, 2018 |
| Hypohidrotic X-linked ectodermal dysplasia | 18 | Jan 4, 2018 |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | 1 | Nov 14, 2011 |
| Hypokalemic periodic paralysis, type 1 | 5 | Feb 24, 2021 |
| Hypokalemic periodic paralysis, type 2 | 6 | Sep 28, 2016 |
| Hypokalemic tubulopathy and deafness | 6 | Jun 29, 2021 |
| Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | 1 | Dec 8, 2022 |
| Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial | 1 | Apr 23, 2012 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 3 | Feb 4, 2019 |
| Hypomagnesemia, seizures, and intellectual disability 2 | 3 | Feb 4, 2019 |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 1 | Jun 6, 2008 |
| Hypomyelinating leukodystrophy 10 | 6 | Sep 16, 2016 |
| Hypomyelinating leukodystrophy 11 | 6 | Oct 5, 2016 |
| Hypomyelinating leukodystrophy 12 | 2 | Nov 30, 2021 |
| Hypomyelinating leukodystrophy 13 | 1 | Aug 9, 2017 |
| Hypomyelinating leukodystrophy 2 | 10 | Nov 15, 2016 |
| Hypomyelinating leukodystrophy 3 | 2 | May 31, 2018 |
| Hypomyelinating leukodystrophy 4 | 1 | Sep 14, 2018 |
| Hypomyelinating leukodystrophy 6 | 6 | Jun 22, 2015 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 12 | Mar 4, 2022 |
| Hypomyelinating leukodystrophy 9 | 7 | Aug 20, 2019 |
| Hypomyelination and Congenital Cataract | 4 | Jun 15, 2017 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 6 | Aug 20, 2019 |
| Hypoparathyroidism, deafness, renal disease syndrome | 16 | Jun 26, 2021 |
| Hypoparathyroidism, familial isolated 1 | 3 | May 14, 2020 |
| Hypoparathyroidism, familial isolated, 2 | 6 | Apr 30, 2021 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 3 | Nov 29, 2016 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 2 | Oct 6, 2016 |
| Hypophosphatemic nephrolithiasis/osteoporosis 2 | 3 | Nov 20, 2012 |
| Hypophosphatemic rickets, X-linked recessive | 1 | Dec 7, 2010 |
| Hypophosphatemic rickets, autosomal recessive, 1 | 4 | Mar 21, 2022 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 4 | Jun 28, 2021 |
| Hypopigmentation, organomegaly, and delayed myelination and development | 1 | Aug 15, 2019 |
| Hypopigmentation-punctate palmoplantar keratoderma syndrome | 3 | Aug 15, 2016 |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 1 | Sep 10, 2009 |
| Hypoplastic left heart syndrome 1 | 2 | Jun 13, 2017 |
| Hypoplastic left heart syndrome 2 | 1 | Sep 13, 2016 |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 8 | Mar 7, 2016 |
| Hypoproteinemia, hypercatabolic | 2 | Aug 5, 2016 |
| Hypospadias 1, X-linked | 2 | Nov 1, 2019 |
| Hypospadias 2, X-linked | 3 | Feb 20, 2009 |
| Hypospermatogenesis, nonobstructive, Y-linked | 1 | Aug 9, 2012 |
| Hypotaurinemic retinal degeneration and cardiomyopathy | 2 | May 24, 2021 |
| Hypothyroidism due to TSH receptor mutations | 17 | Aug 24, 2021 |
| Hypothyroidism, congenital, nongoitrous, 2 | 7 | Sep 5, 2019 |
| Hypothyroidism, congenital, nongoitrous, 5 | 3 | Sep 13, 2016 |
| Hypothyroidism, congenital, nongoitrous, 7 | 4 | Sep 6, 2019 |
| Hypothyroidism, congenital, nongoitrous, 8 | 4 | Sep 27, 2019 |
| Hypothyroidism, congenital, nongoitrous, 9 | 3 | Sep 26, 2019 |
| Hypotonia with lactic acidemia and hyperammonemia | 4 | Jan 26, 2024 |
| Hypotonia, ataxia, and delayed development syndrome | 10 | Feb 13, 2017 |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | 1 | Mar 28, 2018 |
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 5 | Jul 15, 2019 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 4 | Feb 23, 2023 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 8 | Apr 10, 2018 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 8 | Dec 5, 2018 |
| Hypotrichosis 1 | 1 | Feb 25, 2021 |
| Hypotrichosis 11 | 4 | Apr 1, 2024 |
| Hypotrichosis 12 | 1 | Jul 11, 2014 |
| Hypotrichosis 13 | 1 | Nov 11, 2015 |
| Hypotrichosis 14 | 3 | Feb 10, 2022 |
| Hypotrichosis 15 | 3 | Dec 21, 2022 |
| Hypotrichosis 2 | 2 | Jul 17, 2014 |
| Hypotrichosis 3 | 1 | Jul 20, 2017 |
| Hypotrichosis 4 | 5 | Mar 31, 2021 |
| Hypotrichosis 5 | 1 | Mar 30, 2020 |
| Hypotrichosis 6 | 10 | May 26, 2023 |
| Hypotrichosis 7 | 4 | Sep 3, 2013 |
| Hypotrichosis 8 | 6 | Jun 8, 2018 |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 3 | Jun 14, 2018 |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 | Jun 2, 2015 |
| Hypouricemia, renal, 2 | 9 | Sep 22, 2020 |
| IDUA pseudodeficiency | 1 | Oct 4, 2012 |
| IFAP syndrome 1, with or without BRESHECK syndrome | 6 | Feb 25, 2021 |
| IFAP syndrome 2 | 3 | Sep 9, 2020 |
| IGG receptor I, phagocytic, familial deficiency of | 1 | Feb 27, 2013 |
| IL21-related infantile inflammatory bowel disease | 1 | May 5, 2016 |
| IMAGe syndrome | 5 | Apr 7, 2017 |
| IMMUNODEFICIENCY 104, SEVERE COMBINED, SUSCEPTIBILITY TO | 1 | Jun 30, 2022 |
| IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS/IMMUNODEFICIENCY 28, DIGENIC | 1 | Jun 30, 2022 |
| IMMUNODEFICIENCY 127 | 2 | Oct 16, 2024 |
| IMMUNODEFICIENCY 128 | 1 | Oct 18, 2024 |
| IMMUNODEFICIENCY 33, MALE-RESTRICTED | 1 | May 27, 2022 |
| IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv1 | 1 | Jan 18, 2012 |
| IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv2 | 1 | Jan 18, 2012 |
| IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv3 | 1 | Jan 18, 2012 |
| IMPDH2 enzyme activity, variation in | 1 | May 24, 2018 |
| INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 | 1 | Dec 23, 2020 |
| INCREASED COLD TOLERANCE | 1 | May 14, 2021 |
| INDIAN BLOOD GROUP SYSTEM POLYMORPHISM | 1 | Oct 1, 2019 |
| INSULIN RESISTANCE, DIGENIC | 1 | Sep 4, 2020 |
| INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM | 3 | Jun 12, 2020 |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES | 1 | Jun 18, 2020 |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | 5 | Aug 6, 2020 |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES | 5 | May 8, 2019 |
| INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 75 | 5 | Oct 28, 2024 |
| INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114 | 2 | Nov 1, 2024 |
| INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM | 3 | Apr 3, 2013 |
| INTERLEUKIN 6 POLYMORPHISM | 1 | Nov 26, 2012 |
| INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO | 1 | Jan 8, 2021 |
| Ichthyosis bullosa of Siemens | 8 | Sep 29, 2016 |
| Ichthyosis hystrix gravior | 1 | Feb 7, 2024 |
| Ichthyosis hystrix of Curth-Macklin | 4 | Nov 22, 2022 |
| Ichthyosis prematurity syndrome | 11 | Aug 17, 2021 |
| Ichthyosis vulgaris | 4 | Feb 10, 2017 |
| Ichthyosis with erythrokeratoderma | 2 | Sep 13, 2023 |
| Ichthyosis, annular epidermolytic 1 | 1 | Feb 7, 2024 |
| Ichthyosis, annular epidermolytic, 2 | 2 | Dec 21, 2012 |
| Ichthyosis, congenital, autosomal recessive 12 | 1 | Jan 27, 2017 |
| Ichthyosis, congenital, autosomal recessive 13 | 3 | Apr 12, 2018 |
| Ichthyosis, congenital, autosomal recessive 14 | 4 | Jul 13, 2017 |
| Ichthyosis, hystrix-like, with hearing loss | 1 | Jan 16, 2020 |
| Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | 2 | Apr 20, 2022 |
| Idiopathic CD4 lymphocytopenia | 1 | Sep 9, 2019 |
| Idiopathic basal ganglia calcification 1 | 9 | Oct 15, 2019 |
| IgA glomerulonephritis | 1 | May 10, 2012 |
| IgA nephropathy, susceptibility to | 1 | Dec 6, 2011 |
| IgA nephropathy, susceptibility to, 3 | 1 | Sep 18, 2019 |
| IgE responsiveness, atopic | 1 | Jul 31, 2017 |
| Imagawa-Matsumoto syndrome | 5 | Feb 21, 2020 |
| Imerslund-Grasbeck syndrome type 1 | 6 | May 18, 2020 |
| Imerslund-Grasbeck syndrome type 2 | 7 | May 19, 2020 |
| Iminoglycinuria | 2 | Sep 24, 2010 |
| Iminoglycinuria, digenic | 1 | Jun 2, 2020 |
| Immune dysregulation, autoimmunity, and autoinflammation | 1 | Sep 27, 2023 |
| Immunodeficiency 101 (varicella zoster virus-specific) | 1 | May 20, 2022 |
| Immunodeficiency 102 | 4 | May 31, 2022 |
| Immunodeficiency 104 | 7 | Jun 30, 2022 |
| Immunodeficiency 105 | 3 | Aug 20, 2013 |
| Immunodeficiency 106, susceptibility to viral infections | 7 | Jun 30, 2022 |
| Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection | 5 | Aug 10, 2022 |
| Immunodeficiency 109 with lymphoproliferation | 1 | Mar 15, 2023 |
| Immunodeficiency 112 | 2 | Apr 25, 2024 |
| Immunodeficiency 113 with autoimmunity and autoinflammation | 2 | Nov 17, 2023 |
| Immunodeficiency 114, folate-responsive | 1 | Nov 21, 2023 |
| Immunodeficiency 115 with autoinflammation | 3 | Nov 28, 2023 |
| Immunodeficiency 117 | 2 | Jan 10, 2024 |
| Immunodeficiency 118 | 3 | Jan 24, 2024 |
| Immunodeficiency 119 | 1 | May 30, 2024 |
| Immunodeficiency 11b with atopic dermatitis | 4 | Aug 22, 2017 |
| Immunodeficiency 120 | 3 | May 30, 2024 |
| Immunodeficiency 121 with autoinflammation | 3 | Jun 11, 2024 |
| Immunodeficiency 122 | 2 | Jul 2, 2024 |
| Immunodeficiency 123 with HPV-related verrucosis | 1 | Jul 31, 2024 |
| Immunodeficiency 125 | 1 | Aug 27, 2024 |
| Immunodeficiency 126, susceptibility to | 3 | Sep 4, 2024 |
| Immunodeficiency 14 | 4 | Apr 22, 2021 |
| Immunodeficiency 14b, autosomal recessive | 2 | Apr 21, 2021 |
| Immunodeficiency 15a | 1 | Nov 28, 2018 |
| Immunodeficiency 18 | 2 | Feb 9, 2015 |
| Immunodeficiency 18, severe combined immunodeficiency variant | 1 | Jan 10, 2020 |
| Immunodeficiency 19 | 3 | Sep 12, 2017 |
| Immunodeficiency 23 | 11 | Jul 30, 2020 |
| Immunodeficiency 25 | 4 | Jun 20, 2011 |
| Immunodeficiency 26 without neurologic abnormalities | 1 | May 22, 2020 |
| Immunodeficiency 27A | 10 | Aug 5, 2016 |
| Immunodeficiency 28 | 7 | Oct 8, 2021 |
| Immunodeficiency 31B | 4 | Oct 4, 2016 |
| Immunodeficiency 32B | 3 | Jun 8, 2018 |
| Immunodeficiency 33 | 10 | May 27, 2022 |
| Immunodeficiency 35 | 12 | Sep 19, 2022 |
| Immunodeficiency 36 | 7 | Dec 5, 2017 |
| Immunodeficiency 37 | 1 | Sep 26, 2016 |
| Immunodeficiency 39 | 2 | May 6, 2015 |
| Immunodeficiency 45 | 4 | Sep 15, 2022 |
| Immunodeficiency 47 | 10 | Jul 29, 2024 |
| Immunodeficiency 49 | 2 | Aug 28, 2018 |
| Immunodeficiency 51 | 6 | Dec 19, 2016 |
| Immunodeficiency 53 | 1 | Jan 29, 2021 |
| Immunodeficiency 57 | 3 | Apr 28, 2020 |
| Immunodeficiency 60 | 2 | Oct 27, 2021 |
| Immunodeficiency 61 | 1 | Apr 22, 2019 |
| Immunodeficiency 62 | 2 | Jun 6, 2019 |
| Immunodeficiency 63 with lymphoproliferation and autoimmunity | 4 | Jul 16, 2019 |
| Immunodeficiency 64 | 5 | Aug 14, 2019 |
| Immunodeficiency 65, susceptibility to viral infections | 2 | Nov 1, 2019 |
| Immunodeficiency 66 | 1 | Apr 17, 2020 |
| Immunodeficiency 67 | 8 | Jun 25, 2020 |
| Immunodeficiency 69 | 1 | Mar 23, 2022 |
| Immunodeficiency 70 | 3 | Jul 31, 2020 |
| Immunodeficiency 72 with autoinflammation | 7 | Mar 15, 2023 |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 3 | Aug 25, 2020 |
| Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | 1 | Aug 25, 2020 |
| Immunodeficiency 74, COVID-19-related, X-linked | 2 | Aug 26, 2020 |
| Immunodeficiency 75 | 2 | Dec 22, 2020 |
| Immunodeficiency 76 | 6 | Feb 10, 2021 |
| Immunodeficiency 77 | 4 | Mar 19, 2021 |
| Immunodeficiency 78 with autoimmunity and developmental delay | 4 | May 25, 2021 |
| Immunodeficiency 79 | 2 | Mar 25, 2021 |
| Immunodeficiency 80 with or without congenital cardiomyopathy | 4 | May 11, 2021 |
| Immunodeficiency 81 | 1 | Jun 21, 2021 |
| Immunodeficiency 82 with systemic inflammation | 3 | Jun 21, 2021 |
| Immunodeficiency 83, susceptibility to viral infections | 9 | Jul 12, 2021 |
| Immunodeficiency 84 | 1 | Jul 27, 2021 |
| Immunodeficiency 85 and autoimmunity | 1 | Sep 2, 2021 |
| Immunodeficiency 86 | 2 | Oct 6, 2021 |
| Immunodeficiency 87 and autoimmunity | 3 | Oct 21, 2021 |
| Immunodeficiency 88 | 1 | Nov 29, 2021 |
| Immunodeficiency 89 and autoimmunity | 1 | Nov 29, 2021 |
| Immunodeficiency 91 and hyperinflammation | 6 | Dec 9, 2021 |
| Immunodeficiency 92 | 2 | Dec 13, 2021 |
| Immunodeficiency 93 and hypertrophic cardiomyopathy | 6 | Jan 24, 2022 |
| Immunodeficiency 94 with autoinflammation and dysmorphic facies | 1 | Feb 23, 2022 |
| Immunodeficiency 95 | 4 | Mar 7, 2022 |
| Immunodeficiency 96 | 4 | Mar 7, 2022 |
| Immunodeficiency 97 with autoinflammation | 4 | Apr 4, 2022 |
| Immunodeficiency 98 with autoinflammation, X-linked | 4 | May 4, 2022 |
| Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias | 1 | Apr 27, 2022 |
| Immunodeficiency due to CD25 deficiency | 5 | Aug 23, 2016 |
| Immunodeficiency due to MASP-2 deficiency | 1 | Jun 3, 2016 |
| Immunodeficiency due to ficolin3 deficiency | 1 | Oct 3, 2016 |
| Immunodeficiency, common variable, 1 | 1 | Oct 24, 2019 |
| Immunodeficiency, common variable, 10 | 6 | Oct 27, 2020 |
| Immunodeficiency, common variable, 12 | 10 | Apr 20, 2021 |
| Immunodeficiency, common variable, 14 | 1 | Nov 13, 2017 |
| Immunodeficiency, common variable, 15 | 2 | Jan 12, 2024 |
| Immunodeficiency, common variable, 2 | 6 | Nov 17, 2011 |
| Immunodeficiency, common variable, 3 | 6 | Sep 13, 2016 |
| Immunodeficiency, common variable, 4 | 1 | Aug 3, 2010 |
| Immunodeficiency, common variable, 5 | 1 | Sep 18, 2020 |
| Immunodeficiency, common variable, 6 | 1 | Dec 18, 2017 |
| Immunodeficiency, common variable, 7 | 2 | Feb 2, 2015 |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 4 | Aug 28, 2018 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 12 | Aug 17, 2021 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 6 | Feb 9, 2022 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 4 | Apr 10, 2019 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 6 | Jul 19, 2017 |
| Immunoglobulin A deficiency 2 | 3 | Nov 17, 2011 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 3 | Jul 23, 2015 |
| Immunoskeletal dysplasia with neurodevelopmental abnormalities | 3 | Apr 5, 2017 |
| Impaired intellectual development and distinctive facial features with cardiac defects | 4 | Oct 7, 2021 |
| Inborn glycerol kinase deficiency | 8 | Feb 28, 2017 |
| Inborn mitochondrial myopathy | 5 | Mar 25, 2019 |
| Inclusion body myopathy and brain white matter abnormalities | 1 | Feb 15, 2022 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 7 | Dec 23, 2020 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 1 | Dec 20, 2019 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 | Sep 4, 2015 |
| Incontinentia pigmenti syndrome | 13 | May 27, 2022 |
| Increased analgesia from kappa-opioid receptor agonist, female-specific | 2 | Jan 19, 2018 |
| Increased circulating IgE concentration | 1 | Mar 13, 2018 |
| Increased responsiveness to growth hormone | 1 | Feb 16, 2021 |
| Indifference to pain, congenital, autosomal dominant | 1 | Jan 31, 2018 |
| Infantile GM1 gangliosidosis | 11 | Nov 9, 2021 |
| Infantile bilateral striatal necrosis | 1 | May 31, 2019 |
| Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | 1 | May 1, 2019 |
| Infantile cerebellar-retinal degeneration | 14 | Oct 19, 2022 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 | May 9, 2011 |
| Infantile convulsions and choreoathetosis | 7 | Feb 19, 2015 |
| Infantile cortical hyperostosis | 2 | Jan 29, 2020 |
| Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 4 | Jul 22, 2022 |
| Infantile hypophosphatasia | 16 | Apr 14, 2015 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 5 | Dec 12, 2018 |
| Infantile liver failure syndrome 1 | 1 | Apr 7, 2020 |
| Infantile liver failure syndrome 2 | 7 | Jun 7, 2021 |
| Infantile liver failure syndrome 3 | 5 | Oct 24, 2019 |
| Infantile nephronophthisis | 5 | Feb 14, 2018 |
| Infantile neuroaxonal dystrophy | 6 | Jul 19, 2017 |
| Infantile onset spinocerebellar ataxia | 3 | Mar 27, 2017 |
| Infantile-onset X-linked spinal muscular atrophy | 3 | Mar 14, 2013 |
| Infantile-onset ascending hereditary spastic paralysis | 9 | Feb 21, 2020 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 2 | Apr 29, 2016 |
| Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 7 | Sep 24, 2022 |
| Infertility associated with multi-tailed spermatozoa and excessive DNA | 3 | Jan 17, 2020 |
| Inflammatory bowel disease | 1 | Jun 23, 2021 |
| Inflammatory bowel disease 1 | 5 | Feb 17, 2023 |
| Inflammatory bowel disease 10, susceptibility to | 1 | Aug 25, 2016 |
| Inflammatory bowel disease 13 | 1 | Jan 28, 2020 |
| Inflammatory bowel disease 14, susceptibility to | 1 | Sep 30, 2019 |
| Inflammatory bowel disease 17, protection against | 1 | Jul 23, 2019 |
| Inflammatory bowel disease 19 | 1 | Aug 1, 2016 |
| Inflammatory bowel disease 25 | 2 | Apr 11, 2013 |
| Inflammatory bowel disease 28 | 4 | Jul 19, 2021 |
| Inflammatory bowel disease 29 | 1 | Aug 6, 2018 |
| Inflammatory bowel disease 30 | 1 | Nov 9, 2020 |
| Inflammatory bowel disease 5 | 1 | Sep 26, 2018 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 3 | Dec 4, 2018 |
| Inflammatory poikiloderma with hair abnormalities and acral keratoses | 1 | Jan 11, 2023 |
| Inflammatory skin and bowel disease, neonatal, 1 | 1 | Feb 22, 2019 |
| Inflammatory skin and bowel disease, neonatal, 2 | 3 | Aug 26, 2024 |
| Influenza, severe, susceptibility to | 1 | Jan 6, 2014 |
| Inherited Creutzfeldt-Jakob disease | 8 | Nov 4, 2019 |
| Inherited susceptibility to asthma | 8 | Dec 3, 2021 |
| Inosine triphosphatase deficiency | 2 | Nov 20, 2015 |
| Insomnia | 1 | Sep 10, 2014 |
| Insulin resistance | 2 | Dec 5, 2016 |
| Insulin resistance, severe, digenic | 1 | Oct 1, 2009 |
| Insulin resistance, susceptibility to | 5 | Dec 11, 2017 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 13 | Dec 8, 2020 |
| Insulin-resistant diabetes mellitus | 1 | May 8, 2019 |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 12 | Dec 5, 2016 |
| Intellectual developmental disorder 60 with seizures | 1 | Dec 11, 2020 |
| Intellectual developmental disorder 61 | 5 | Dec 14, 2020 |
| Intellectual developmental disorder 62 | 6 | Dec 11, 2020 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 4 | Nov 20, 2018 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 7 | Apr 8, 2022 |
| Intellectual developmental disorder with autism and dysmorphic facies | 2 | Aug 31, 2022 |
| Intellectual developmental disorder with autism and macrocephaly | 13 | May 11, 2022 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 4 | Feb 11, 2020 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 7 | Jul 9, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 6 | Aug 17, 2018 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 10 | Jul 19, 2017 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 4 | May 3, 2017 |
| Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 1 | Oct 5, 2020 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 5 | Jun 17, 2019 |
| Intellectual developmental disorder with hypertelorism and distinctive facies | 1 | Oct 16, 2018 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 5 | Jan 28, 2020 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 5 | Oct 11, 2021 |
| Intellectual developmental disorder with impaired language and dysmorphic facies | 5 | Nov 8, 2019 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 5 | Jun 22, 2022 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2 | Oct 31, 2018 |
| Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | 5 | Aug 22, 2022 |
| Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | 2 | Oct 4, 2019 |
| Intellectual developmental disorder with neuropsychiatric features | 2 | Jun 26, 2017 |
| Intellectual developmental disorder with ocular anomalies and distinctive facial features | 1 | Oct 20, 2022 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 5 | Jul 27, 2018 |
| Intellectual developmental disorder with or without peripheral neuropathy | 2 | Apr 27, 2022 |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures | 5 | Jan 21, 2021 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 3 | Mar 27, 2020 |
| Intellectual developmental disorder with seizures and language delay | 12 | Apr 14, 2023 |
| Intellectual developmental disorder with severe speech and ambulation defects | 2 | Jun 19, 2019 |
| Intellectual developmental disorder with short stature and behavioral abnormalities | 2 | Dec 4, 2019 |
| Intellectual developmental disorder with short stature and variable skeletal anomalies | 3 | Nov 11, 2021 |
| Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | 7 | Apr 8, 2021 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 5 | Nov 27, 2019 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 4 | Feb 4, 2019 |
| Intellectual developmental disorder, X-linked 108 | 1 | Apr 8, 2019 |
| Intellectual developmental disorder, X-linked 110 | 1 | Jan 18, 2023 |
| Intellectual developmental disorder, X-linked 111 | 6 | May 4, 2023 |
| Intellectual developmental disorder, X-linked 112 | 3 | Jul 11, 2023 |
| Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 5 | Mar 17, 2020 |
| Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 6 | Apr 26, 2022 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 7 | Oct 27, 2021 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 4 | Mar 31, 2020 |
| Intellectual developmental disorder, autosomal dominant 64 | 7 | Feb 19, 2021 |
| Intellectual developmental disorder, autosomal dominant 65 | 5 | May 18, 2021 |
| Intellectual developmental disorder, autosomal dominant 66 | 5 | Jun 16, 2022 |
| Intellectual developmental disorder, autosomal dominant 67 | 2 | Jun 29, 2022 |
| Intellectual developmental disorder, autosomal dominant 69 | 1 | Jul 13, 2022 |
| Intellectual developmental disorder, autosomal dominant 70 | 1 | Dec 13, 2022 |
| Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | 5 | Apr 19, 2023 |
| Intellectual developmental disorder, autosomal dominant 72 | 7 | Jun 30, 2023 |
| Intellectual developmental disorder, autosomal dominant 73 | 5 | Jun 18, 2024 |
| Intellectual developmental disorder, autosomal dominant 74 | 2 | Jan 31, 2024 |
| Intellectual developmental disorder, autosomal recessive 67 | 2 | Jul 21, 2022 |
| Intellectual developmental disorder, autosomal recessive 68 | 3 | Jan 31, 2019 |
| Intellectual developmental disorder, autosomal recessive 69 | 9 | Oct 30, 2024 |
| Intellectual developmental disorder, autosomal recessive 70 | 5 | Feb 14, 2022 |
| Intellectual developmental disorder, autosomal recessive 71 | 3 | Oct 13, 2022 |
| Intellectual developmental disorder, autosomal recessive 72 | 2 | Nov 22, 2019 |
| Intellectual developmental disorder, autosomal recessive 73 | 2 | Jan 27, 2022 |
| Intellectual developmental disorder, autosomal recessive 74 | 3 | Feb 2, 2022 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 6 | Apr 20, 2022 |
| Intellectual developmental disorder, autosomal recessive 76 | 1 | Jun 29, 2022 |
| Intellectual developmental disorder, autosomal recessive 77 | 3 | Aug 9, 2022 |
| Intellectual developmental disorder, autosomal recessive 78 | 4 | Feb 8, 2023 |
| Intellectual developmental disorder, autosomal recessive 79 | 2 | May 26, 2023 |
| Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | 4 | Dec 15, 2023 |
| Intellectual developmental disorder, autosomal recessive 81 | 12 | Feb 2, 2024 |
| Intellectual developmental disorder, autosomal recessive 82 | 3 | Apr 10, 2024 |
| Intellectual developmental disorder, x-linked 113 | 1 | Feb 6, 2024 |
| Intellectual developmental disorder, x-linked, syndromic 37 | 5 | Apr 1, 2024 |
| Intellectual disability | 3 | Jul 30, 2020 |
| Intellectual disability and myopathy syndrome | 1 | Jan 26, 2022 |
| Intellectual disability, FRA12A type | 1 | Apr 12, 2022 |
| Intellectual disability, X-linked 1 | 9 | Aug 20, 2021 |
| Intellectual disability, X-linked 100 | 5 | Aug 11, 2023 |
| Intellectual disability, X-linked 101 | 1 | Aug 20, 2021 |
| Intellectual disability, X-linked 102 | 13 | Jul 15, 2020 |
| Intellectual disability, X-linked 103 | 2 | Aug 20, 2021 |
| Intellectual disability, X-linked 104 | 4 | Aug 20, 2021 |
| Intellectual disability, X-linked 105 | 6 | Feb 15, 2024 |
| Intellectual disability, X-linked 106 | 6 | Sep 25, 2022 |
| Intellectual disability, X-linked 107 | 1 | Aug 20, 2021 |
| Intellectual disability, X-linked 19 | 3 | Aug 20, 2021 |
| Intellectual disability, X-linked 21 | 4 | Aug 2, 2021 |
| Intellectual disability, X-linked 30 | 5 | Aug 20, 2021 |
| Intellectual disability, X-linked 41 | 4 | Aug 20, 2021 |
| Intellectual disability, X-linked 45 | 1 | Feb 22, 2017 |
| Intellectual disability, X-linked 46 | 1 | May 16, 2018 |
| Intellectual disability, X-linked 49 | 7 | Nov 7, 2018 |
| Intellectual disability, X-linked 50 | 3 | Oct 14, 2022 |
| Intellectual disability, X-linked 58 | 3 | Aug 20, 2021 |
| Intellectual disability, X-linked 61 | 7 | Oct 31, 2019 |
| Intellectual disability, X-linked 63 | 3 | Aug 21, 2021 |
| Intellectual disability, X-linked 72 | 2 | Aug 21, 2021 |
| Intellectual disability, X-linked 9 | 4 | Aug 20, 2021 |
| Intellectual disability, X-linked 90 | 6 | Aug 20, 2021 |
| Intellectual disability, X-linked 93 | 5 | Mar 29, 2022 |
| Intellectual disability, X-linked 96 | 4 | Aug 20, 2021 |
| Intellectual disability, X-linked 97 | 4 | Aug 20, 2021 |
| Intellectual disability, X-linked 99 | 2 | Aug 19, 2021 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 5 | Aug 19, 2021 |
| Intellectual disability, X-linked syndromic, Turner type | 11 | Aug 20, 2021 |
| Intellectual disability, X-linked, syndromic 33 | 5 | Aug 20, 2021 |
| Intellectual disability, X-linked, syndromic, 35 | 3 | Aug 19, 2021 |
| Intellectual disability, X-linked, syndromic, Bain type | 4 | Dec 20, 2022 |
| Intellectual disability, X-linked, syndromic, Houge type | 2 | Aug 19, 2021 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 5 | Aug 23, 2021 |
| Intellectual disability, anterior maxillary protrusion, and strabismus | 1 | Sep 13, 2019 |
| Intellectual disability, autosomal dominant 1 | 4 | Oct 28, 2022 |
| Intellectual disability, autosomal dominant 10 | 1 | Apr 1, 2022 |
| Intellectual disability, autosomal dominant 11 | 1 | Jun 10, 2021 |
| Intellectual disability, autosomal dominant 13 | 5 | Apr 1, 2022 |
| Intellectual disability, autosomal dominant 14 | 6 | Mar 9, 2017 |
| Intellectual disability, autosomal dominant 15 | 3 | Mar 9, 2017 |
| Intellectual disability, autosomal dominant 16 | 6 | Aug 23, 2016 |
| Intellectual disability, autosomal dominant 20 | 10 | Feb 16, 2022 |
| Intellectual disability, autosomal dominant 22 | 7 | Apr 5, 2022 |
| Intellectual disability, autosomal dominant 24 | 11 | Jun 2, 2020 |
| Intellectual disability, autosomal dominant 27 | 8 | Feb 6, 2023 |
| Intellectual disability, autosomal dominant 29 | 6 | Apr 6, 2022 |
| Intellectual disability, autosomal dominant 3 | 3 | Apr 4, 2022 |
| Intellectual disability, autosomal dominant 30 | 9 | Sep 8, 2022 |
| Intellectual disability, autosomal dominant 33 | 2 | Apr 12, 2022 |
| Intellectual disability, autosomal dominant 34 | 1 | May 11, 2015 |
| Intellectual disability, autosomal dominant 38 | 2 | Apr 5, 2022 |
| Intellectual disability, autosomal dominant 39 | 5 | Jan 13, 2022 |
| Intellectual disability, autosomal dominant 4 | 3 | Jun 7, 2018 |
| Intellectual disability, autosomal dominant 40 | 8 | May 17, 2022 |
| Intellectual disability, autosomal dominant 41 | 4 | Oct 18, 2017 |
| Intellectual disability, autosomal dominant 42 | 12 | Nov 3, 2021 |
| Intellectual disability, autosomal dominant 43 | 6 | Jun 28, 2017 |
| Intellectual disability, autosomal dominant 45 | 5 | Aug 30, 2017 |
| Intellectual disability, autosomal dominant 46 | 4 | Aug 3, 2017 |
| Intellectual disability, autosomal dominant 47 | 6 | Aug 31, 2017 |
| Intellectual disability, autosomal dominant 48 | 10 | Mar 28, 2023 |
| Intellectual disability, autosomal dominant 5 | 10 | Apr 4, 2022 |
| Intellectual disability, autosomal dominant 50 | 10 | Jul 7, 2021 |
| Intellectual disability, autosomal dominant 51 | 5 | Sep 10, 2018 |
| Intellectual disability, autosomal dominant 52 | 7 | Dec 5, 2017 |
| Intellectual disability, autosomal dominant 53 | 8 | Apr 11, 2022 |
| Intellectual disability, autosomal dominant 54 | 7 | Aug 28, 2018 |
| Intellectual disability, autosomal dominant 55, with seizures | 6 | Oct 20, 2021 |
| Intellectual disability, autosomal dominant 56 | 6 | Oct 20, 2021 |
| Intellectual disability, autosomal dominant 57 | 5 | Jul 12, 2018 |
| Intellectual disability, autosomal dominant 58 | 5 | Aug 31, 2018 |
| Intellectual disability, autosomal dominant 6 | 10 | Apr 7, 2022 |
| Intellectual disability, autosomal dominant 8 | 8 | Mar 28, 2022 |
| Intellectual disability, autosomal dominant 9 | 10 | Apr 16, 2020 |
| Intellectual disability, autosomal recessive 1 | 1 | Apr 5, 2022 |
| Intellectual disability, autosomal recessive 12 | 3 | Mar 5, 2021 |
| Intellectual disability, autosomal recessive 13 | 4 | Apr 8, 2022 |
| Intellectual disability, autosomal recessive 14 | 1 | Apr 11, 2022 |
| Intellectual disability, autosomal recessive 18 | 8 | Feb 16, 2022 |
| Intellectual disability, autosomal recessive 2 | 2 | Apr 5, 2022 |
| Intellectual disability, autosomal recessive 27 | 2 | Jan 19, 2022 |
| Intellectual disability, autosomal recessive 3 | 1 | Apr 5, 2022 |
| Intellectual disability, autosomal recessive 34 | 4 | Dec 11, 2021 |
| Intellectual disability, autosomal recessive 42 | 7 | May 24, 2021 |
| Intellectual disability, autosomal recessive 43 | 6 | Jul 21, 2022 |
| Intellectual disability, autosomal recessive 44 | 4 | Jul 21, 2022 |
| Intellectual disability, autosomal recessive 45 | 1 | Apr 8, 2022 |
| Intellectual disability, autosomal recessive 46 | 4 | Apr 8, 2022 |
| Intellectual disability, autosomal recessive 47 | 2 | Dec 8, 2021 |
| Intellectual disability, autosomal recessive 5 | 5 | Apr 5, 2022 |
| Intellectual disability, autosomal recessive 50 | 1 | Dec 2, 2021 |
| Intellectual disability, autosomal recessive 51 | 2 | Dec 3, 2021 |
| Intellectual disability, autosomal recessive 52 | 1 | Dec 3, 2021 |
| Intellectual disability, autosomal recessive 53 | 8 | Jan 20, 2023 |
| Intellectual disability, autosomal recessive 54 | 1 | Dec 2, 2021 |
| Intellectual disability, autosomal recessive 56 | 2 | Dec 2, 2021 |
| Intellectual disability, autosomal recessive 57 | 5 | Jan 26, 2022 |
| Intellectual disability, autosomal recessive 58 | 4 | Feb 18, 2022 |
| Intellectual disability, autosomal recessive 59 | 1 | Apr 7, 2022 |
| Intellectual disability, autosomal recessive 6 | 2 | Oct 28, 2021 |
| Intellectual disability, autosomal recessive 60 | 2 | Apr 5, 2022 |
| Intellectual disability, autosomal recessive 61 | 2 | Apr 7, 2022 |
| Intellectual disability, autosomal recessive 63 | 1 | Apr 11, 2022 |
| Intellectual disability, autosomal recessive 64 | 2 | Aug 29, 2018 |
| Intellectual disability, autosomal recessive 65 | 5 | Apr 1, 2022 |
| Intellectual disability, autosomal recessive 66 | 3 | Dec 23, 2021 |
| Intellectual disability, autosomal recessive 7 | 3 | Apr 11, 2022 |
| Intellectual disability, severe | 1 | Jul 31, 2019 |
| Intellectual disability, short stature, facial anomalies, and joint dislocations | 3 | Apr 15, 2019 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 9 | Jun 1, 2020 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 7 | Mar 8, 2022 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 3 | Apr 5, 2022 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 2 | Apr 8, 2022 |
| Intellectual disability-hypotonic facies syndrome, X-linked | 8 | Mar 5, 2021 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 11 | Mar 29, 2022 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | May 8, 2019 |
| Intellectual disability-strabismus syndrome | 2 | Sep 10, 2021 |
| Interleukin 6, serum level of, quantitative trait locus | 1 | Nov 26, 2012 |
| Intermediate muscular dystrophy | 3 | Jul 3, 2017 |
| Interstitial lung disease 1 | 4 | Nov 19, 2021 |
| Interstitial lung disease 2 | 5 | Nov 19, 2021 |
| Interstitial lung disease due to ABCA3 deficiency | 7 | Aug 31, 2016 |
| Interstitial nephritis | 1 | May 22, 2017 |
| Intervertebral disc disease, susceptibility to | 2 | Nov 17, 2016 |
| Intestinal dysmotility syndrome | 1 | Sep 19, 2022 |
| Intestinal hypomagnesemia 1 | 12 | Apr 20, 2017 |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 1 | Nov 7, 2018 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 5 | Feb 26, 2019 |
| Intrinsic factor deficiency, congenital, susceptibility to | 1 | Apr 20, 2010 |
| Invasive pneumococcal disease, protection against | 1 | Jun 20, 2020 |
| Invasive pneumococcal disease, recurrent isolated | 1 | Mar 1, 2011 |
| Iodotyrosine deiodination defect | 4 | Nov 5, 2015 |
| Iodotyrosyl coupling defect | 15 | Sep 28, 2020 |
| Iron deficiency anemia | 1 | Sep 2, 2016 |
| Iron overload, susceptibility to | 6 | Nov 28, 2022 |
| Iron-refractory iron deficiency anemia | 13 | Mar 27, 2019 |
| Ischemic heart disease, susceptibility to | 1 | Mar 12, 2015 |
| Ischemic stroke | 4 | Mar 18, 2022 |
| Islet cell adenomatosis | 1 | Mar 19, 2018 |
| Isolated anhidrosis with normal sweat glands | 1 | May 22, 2015 |
| Isolated cleft palate | 3 | Sep 4, 2014 |
| Isolated congenital digital clubbing | 1 | Jul 28, 2020 |
| Isolated cryptophthalmia | 4 | Dec 18, 2019 |
| Isolated focal cortical dysplasia type II | 9 | Sep 16, 2020 |
| Isolated focal non-epidermolytic palmoplantar keratoderma | 1 | Feb 25, 2021 |
| Isolated growth hormone deficiency type IB | 3 | Jan 11, 2017 |
| Isolated growth hormone deficiency, type 4 | 7 | Oct 30, 2018 |
| Isolated growth hormone deficiency, type 5 | 7 | Nov 5, 2021 |
| Isolated hyperchlorhidrosis | 4 | Aug 27, 2018 |
| Isolated hyperferritinemia | 5 | Feb 23, 2024 |
| Isolated lutropin deficiency | 6 | Aug 12, 2016 |
| Isolated microphthalmia 2 | 3 | Jan 11, 2011 |
| Isolated microphthalmia 3 | 7 | Nov 9, 2022 |
| Isolated microphthalmia 4 | 3 | Sep 30, 2021 |
| Isolated microphthalmia 5 | 8 | Aug 11, 2016 |
| Isolated microphthalmia 6 | 10 | Aug 13, 2018 |
| Isolated microphthalmia 7 | 2 | Aug 3, 2017 |
| Isolated microphthalmia 8 | 3 | Mar 7, 2013 |
| Isolated neonatal sclerosing cholangitis | 6 | May 8, 2017 |
| Isolated optic nerve hypoplasia | 1 | Sep 26, 2016 |
| Isolated sedoheptulokinase deficiency | 2 | Nov 22, 2016 |
| Isolated thyroid-stimulating hormone deficiency | 5 | Jan 31, 2022 |
| Isovaleric acidemia, type I | 2 | Apr 7, 2005 |
| Isovaleric acidemia, type II | 1 | Apr 7, 2005 |
| Isovaleric acidemia, type III | 1 | Apr 7, 2005 |
| Isovaleryl-CoA dehydrogenase deficiency | 3 | Feb 16, 2017 |
| Jaberi-Elahi syndrome | 8 | Aug 23, 2024 |
| Jackson-Weiss syndrome | 5 | Jun 11, 2019 |
| Jalili syndrome | 7 | Aug 12, 2015 |
| Jawad syndrome | 1 | Apr 9, 2019 |
| Jeffries-Lakhani neurodevelopmental syndrome | 4 | Mar 29, 2024 |
| Jervell and Lange-Nielsen syndrome 1 | 8 | Feb 6, 2017 |
| Jervell and Lange-Nielsen syndrome 2 | 3 | Jan 28, 2019 |
| Jk-null variant | 3 | Apr 18, 2011 |
| Jk-null variant, finnish type | 1 | Apr 18, 2011 |
| Johanson-Blizzard syndrome | 5 | Aug 18, 2015 |
| John Milton Hagen blood group system | 5 | Sep 13, 2017 |
| Joint contractures, osteochondromas, and B-cell lymphoma | 1 | Feb 3, 2023 |
| Joint laxity, short stature, and myopia | 2 | Sep 11, 2017 |
| Joubert syndrome 1 | 4 | Dec 1, 2014 |
| Joubert syndrome 10 | 3 | Apr 2, 2018 |
| Joubert syndrome 12 | 2 | May 22, 2017 |
| Joubert syndrome 12/15, digenic | 2 | Jan 4, 2018 |
| Joubert syndrome 13 | 2 | Feb 10, 2016 |
| Joubert syndrome 14 | 5 | May 8, 2015 |
| Joubert syndrome 15 | 4 | Jan 4, 2018 |
| Joubert syndrome 16 | 5 | Feb 15, 2018 |
| Joubert syndrome 17 | 6 | Aug 31, 2018 |
| Joubert syndrome 18 | 2 | Sep 19, 2024 |
| Joubert syndrome 19 | 2 | Sep 26, 2013 |
| Joubert syndrome 2 | 2 | Mar 9, 2012 |
| Joubert syndrome 20 | 2 | May 15, 2015 |
| Joubert syndrome 21 | 11 | Aug 11, 2015 |
| Joubert syndrome 22 | 2 | Dec 29, 2020 |
| Joubert syndrome 23 | 5 | Aug 17, 2015 |
| Joubert syndrome 24 | 3 | Nov 23, 2015 |
| Joubert syndrome 25 | 4 | Feb 2, 2016 |
| Joubert syndrome 26 | 2 | Feb 8, 2018 |
| Joubert syndrome 27 | 3 | Sep 23, 2016 |
| Joubert syndrome 28 | 3 | Sep 23, 2016 |
| Joubert syndrome 29 | 1 | Jul 13, 2017 |
| Joubert syndrome 3 | 11 | Oct 4, 2016 |
| Joubert syndrome 30 | 9 | Nov 20, 2017 |
| Joubert syndrome 31 | 5 | Feb 9, 2018 |
| Joubert syndrome 32 | 2 | Nov 7, 2017 |
| Joubert syndrome 33 | 6 | Oct 27, 2020 |
| Joubert syndrome 34 | 3 | Nov 15, 2017 |
| Joubert syndrome 35 | 2 | Oct 30, 2018 |
| Joubert syndrome 36 | 2 | Feb 5, 2020 |
| Joubert syndrome 37 | 7 | Aug 16, 2021 |
| Joubert syndrome 38 | 2 | Oct 7, 2021 |
| Joubert syndrome 39 | 3 | Oct 12, 2021 |
| Joubert syndrome 40 | 5 | Oct 22, 2021 |
| Joubert syndrome 5 | 4 | Jun 15, 2018 |
| Joubert syndrome 6 | 12 | Dec 4, 2018 |
| Joubert syndrome 7 | 7 | Dec 1, 2020 |
| Joubert syndrome 8 | 4 | Nov 6, 2017 |
| Joubert syndrome 9 | 4 | Dec 3, 2020 |
| Joubert syndrome 9/15, digenic | 4 | Dec 2, 2020 |
| Joubert syndrome with renal defect | 1 | Nov 6, 2017 |
| Juberg-Hayward syndrome | 1 | Mar 17, 2021 |
| Junctional epidermolysis bullosa gravis of Herlitz | 6 | Nov 7, 2018 |
| Junctional epidermolysis bullosa with pyloric atresia | 14 | Mar 29, 2022 |
| Junctional epidermolysis bullosa, non-Herlitz type | 9 | Mar 29, 2022 |
| Juvenile arthritis due to defect in LACC1 | 6 | Nov 30, 2021 |
| Juvenile cataract-microcornea-renal glucosuria syndrome | 1 | Aug 24, 2020 |
| Juvenile myelomonocytic leukemia | 16 | Mar 9, 2022 |
| Juvenile nephropathic cystinosis | 5 | Aug 23, 2017 |
| Juvenile onset Parkinson disease 19A | 3 | Oct 13, 2016 |
| Juvenile polyposis of stomach | 1 | Nov 20, 2017 |
| Juvenile polyposis syndrome | 13 | Dec 12, 2017 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 7 | Dec 6, 2017 |
| Juvenile primary lateral sclerosis | 3 | Feb 21, 2020 |
| Juvenile retinitis pigmentosa, AIPL1-related | 1 | Mar 14, 2013 |
| Juvenile retinoschisis | 11 | Nov 26, 2018 |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 7 | Jun 23, 2022 |
| KARAYOL-BORROTO-HAGHSHENAS NEURODEVELOPMENTAL SYNDROME | 1 | Oct 17, 2024 |
| KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME | 2 | Sep 10, 2024 |
| KBG syndrome | 4 | Feb 16, 2017 |
| KELL K/k BLOOD GROUP POLYMORPHISM | 1 | Mar 15, 2013 |
| KELL-NULL PHENOTYPE | 1 | Mar 15, 2013 |
| KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b) | 1 | Apr 18, 2011 |
| KINSSHIP syndrome | 6 | May 11, 2021 |
| KLOTHO POLYMORPHISM | 1 | Aug 21, 2018 |
| Kabuki syndrome 1 | 5 | Jan 4, 2023 |
| Kabuki syndrome 2 | 6 | Jan 12, 2017 |
| Kahrizi syndrome | 1 | Oct 21, 2016 |
| Kallikrein, decreased urinary activity of | 1 | Aug 21, 2014 |
| Kaposi sarcoma | 1 | Jan 8, 2021 |
| Kaposi sarcoma, susceptibility to | 1 | Jul 9, 2024 |
| Karak syndrome | 1 | Jul 19, 2017 |
| Kartagener syndrome | 4 | Apr 25, 2016 |
| Karyomegalic interstitial nephritis | 8 | Jul 15, 2021 |
| Kaya-Barakat-Masson syndrome | 6 | Dec 21, 2020 |
| Kearns-Sayre syndrome | 3 | Sep 23, 2016 |
| Keipert syndrome | 4 | Jun 14, 2019 |
| Kel6 antigen | 1 | Mar 15, 2013 |
| Kennedy disease | 1 | Nov 1, 2019 |
| Keppen-Lubinsky syndrome | 2 | Mar 30, 2015 |
| Keratitis fugax hereditaria | 1 | Feb 27, 2020 |
| Keratoconus 1 | 3 | Sep 2, 2016 |
| Keratoconus 9 | 2 | May 8, 2018 |
| Keratoderma with scleroatrophy of the extremities | 3 | Mar 14, 2019 |
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | 3 | Aug 18, 2022 |
| Keratosis follicularis | 7 | Mar 5, 2014 |
| Keratosis follicularis spinulosa decalvans, X-linked | 1 | Sep 19, 2016 |
| Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | 1 | Jul 18, 2018 |
| Keratosis palmoplantaris striata 2 | 2 | Jun 13, 2018 |
| Keratosis palmoplantaris striata 3 | 1 | Dec 21, 2012 |
| Keratosis pilaris | 1 | Aug 14, 2020 |
| Keutel syndrome | 4 | Aug 29, 2017 |
| Khan-Khan-Katsanis syndrome | 3 | Jul 16, 2019 |
| Kilquist syndrome | 3 | Nov 11, 2020 |
| Kindler syndrome | 6 | Aug 25, 2016 |
| King Denborough syndrome | 4 | Oct 11, 2021 |
| Kininogen deficiency, total | 1 | Feb 23, 2012 |
| Kleefstra syndrome 1 | 5 | Sep 22, 2020 |
| Kleefstra syndrome 2 | 5 | Nov 14, 2017 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 5 | Oct 27, 2023 |
| Klippel-Feil syndrome 1, autosomal dominant | 4 | Sep 30, 2021 |
| Klippel-Feil syndrome 2, autosomal recessive | 3 | Dec 30, 2014 |
| Klippel-Feil syndrome 3, autosomal dominant | 1 | Jan 21, 2011 |
| Kniest dysplasia | 5 | Mar 2, 2017 |
| Knobloch syndrome | 12 | Jul 21, 2022 |
| Knuckle pads, deafness AND leukonychia syndrome | 2 | Mar 11, 2020 |
| Kohlschutter-Tonz syndrome-like | 4 | Apr 28, 2021 |
| Koolen-de Vries syndrome | 6 | Jan 3, 2018 |
| Kostmann syndrome | 8 | Aug 18, 2015 |
| Krabbe disease due to saposin A deficiency | 3 | Oct 26, 2021 |
| Kufor-Rakeb syndrome | 8 | Jan 11, 2017 |
| Kugelberg-Welander disease | 14 | Mar 13, 2023 |
| Kuru, protection against | 1 | Feb 19, 2018 |
| Kury-Isidor syndrome | 4 | Feb 24, 2022 |
| L-2-hydroxyglutaric aciduria | 7 | Jul 26, 2018 |
| L-ferritin deficiency | 1 | Aug 11, 2016 |
| L-ferritin deficiency, autosomal recessive | 1 | Aug 11, 2016 |
| LACTASE PERSISTENCE | 6 | Jan 26, 2021 |
| LAMB2-related infantile-onset nephrotic syndrome | 6 | Aug 15, 2016 |
| LCAT deficiency | 12 | Jun 11, 2019 |
| LCHAD deficiency with maternal acute fatty liver of pregnancy | 1 | Aug 16, 2016 |
| LEOPARD syndrome 1 | 5 | Mar 29, 2019 |
| LEOPARD syndrome 2 | 2 | Oct 20, 2016 |
| LEOPARD syndrome 3 | 2 | Sep 12, 2018 |
| LEPTIN RECEPTOR POLYMORPHISM | 3 | Sep 15, 2016 |
| LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC | 1 | Nov 2, 2021 |
| LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, SOMATIC | 1 | Dec 20, 2016 |
| LEUKODYSTROPHY, HYPOMYELINATING, 28 | 1 | Oct 15, 2024 |
| LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | 5 | Mar 2, 2021 |
| LIM DOMAIN ONLY-1 POLYMORPHISM | 1 | Feb 5, 2016 |
| LIPE-related familial partial lipodystrophy | 3 | Apr 23, 2018 |
| LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH AXONAL PERIPHERAL NEUROPATHY | 2 | Jun 1, 2023 |
| LIPOPROTEIN LIPASE (OLBIA) | 1 | Feb 26, 2013 |
| LIPOPROTEIN LIPASE POLYMORPHISM | 1 | Feb 26, 2013 |
| LIPOPROTEIN(a) POLYMORPHISM | 4 | Aug 7, 2020 |
| LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND CARDIAC ARRHYTHMIA | 1 | Aug 16, 2023 |
| LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 | 1 | May 10, 2018 |
| LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 | 2 | Aug 8, 2018 |
| LUNG CANCER, SUSCEPTIBILITY TO | 3 | Dec 8, 2016 |
| LUTEINIZING HORMONE POLYMORPHISM | 1 | Oct 20, 2017 |
| LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b) | 1 | Jun 25, 2009 |
| LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC | 1 | Feb 12, 2019 |
| LYSYL OXIDASE POLYMORPHISM | 1 | Jan 7, 2011 |
| Lacrimoauriculodentodigital syndrome 2 | 2 | Jun 6, 2018 |
| Lacrimoauriculodentodigital syndrome 3 | 4 | Feb 1, 2024 |
| Lactic aciduria due to D-lactic acid | 3 | May 12, 2020 |
| Lamb-Shaffer syndrome | 5 | Feb 17, 2016 |
| Landau-Kleffner syndrome | 12 | Oct 18, 2018 |
| Landsteiner-Wiener phenotype | 2 | Jul 21, 2011 |
| Langer mesomelic dysplasia syndrome | 6 | Nov 7, 2018 |
| Langereis blood group | 6 | Nov 17, 2015 |
| Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | 1 | Nov 9, 2016 |
| Large congenital melanocytic nevus | 3 | Sep 25, 2017 |
| Laron syndrome with elevated serum GH-binding protein | 2 | May 7, 2015 |
| Laron syndrome with undetectable serum GH-binding protein | 3 | Mar 27, 2017 |
| Laron-type isolated somatotropin defect | 21 | Jun 2, 2020 |
| Larsen syndrome | 4 | Jun 5, 2019 |
| Laryngo-onycho-cutaneous syndrome | 5 | Dec 4, 2023 |
| Late-onset retinal degeneration | 1 | Dec 30, 2011 |
| Lateral meningocele syndrome | 5 | Sep 29, 2016 |
| Lathosterolosis | 6 | Jun 2, 2020 |
| Lattice corneal dystrophy Type I | 2 | Feb 11, 2020 |
| Laurence-Moon syndrome | 2 | Jun 11, 2019 |
| Laurin-Sandrow syndrome | 3 | Oct 4, 2016 |
| Lazy leukocyte syndrome | 8 | Jul 29, 2020 |
| Le(-) PHENOTYPE | 1 | Jan 8, 2009 |
| Leanness, inherited | 1 | Aug 30, 2019 |
| Leber congenital amaurosis | 1 | Jul 11, 2016 |
| Leber congenital amaurosis 1 | 7 | Sep 3, 2019 |
| Leber congenital amaurosis 10 | 5 | Jun 15, 2018 |
| Leber congenital amaurosis 11 | 2 | May 31, 2018 |
| Leber congenital amaurosis 12 | 5 | Aug 28, 2019 |
| Leber congenital amaurosis 13 | 14 | Jul 15, 2015 |
| Leber congenital amaurosis 14 | 1 | Apr 6, 2010 |
| Leber congenital amaurosis 15 | 5 | Jul 19, 2021 |
| Leber congenital amaurosis 16 | 4 | Mar 31, 2016 |
| Leber congenital amaurosis 17 | 4 | Sep 30, 2021 |
| Leber congenital amaurosis 18 | 2 | Dec 16, 2014 |
| Leber congenital amaurosis 19 | 1 | Jul 24, 2019 |
| Leber congenital amaurosis 2 | 7 | Mar 18, 2021 |
| Leber congenital amaurosis 3 | 5 | Jun 15, 2018 |
| Leber congenital amaurosis 4 | 3 | May 13, 2020 |
| Leber congenital amaurosis 5 | 4 | Mar 16, 2021 |
| Leber congenital amaurosis 6 | 6 | May 21, 2015 |
| Leber congenital amaurosis 7 | 4 | Oct 17, 2016 |
| Leber congenital amaurosis 8 | 5 | Nov 28, 2018 |
| Leber congenital amaurosis 9 | 14 | Apr 9, 2021 |
| Leber congenital amaurosis with early-onset deafness | 2 | Feb 16, 2018 |
| Leber optic atrophy | 28 | Jan 15, 2021 |
| Leber optic atrophy and dystonia | 5 | Jan 14, 2021 |
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | 6 | Nov 10, 2023 |
| Leber-like hereditary optic neuropathy, autosomal recessive 2 | 2 | Nov 7, 2023 |
| Left ventricular noncompaction 1 | 2 | Mar 18, 2019 |
| Left ventricular noncompaction 10 | 2 | Sep 3, 2013 |
| Left ventricular noncompaction 3 | 1 | Oct 10, 2017 |
| Left ventricular noncompaction 4 | 1 | Jun 7, 2010 |
| Left ventricular noncompaction 5 | 6 | Nov 7, 2016 |
| Left ventricular noncompaction 7 | 2 | Dec 16, 2019 |
| Left ventricular noncompaction 8 | 3 | Dec 2, 2016 |
| Left ventricular noncompaction 9 | 4 | Jan 15, 2019 |
| Left-right axis malformations | 2 | May 18, 2018 |
| Legg-Calve-Perthes disease | 1 | Mar 2, 2017 |
| Legionnaire disease, susceptibility to | 2 | Nov 19, 2018 |
| Legius syndrome | 9 | Mar 7, 2019 |
| Leigh syndrome | 2 | Oct 20, 2017 |
| Leigh syndrome due to mitochondrial complex I deficiency | 8 | Feb 9, 2018 |
| Leigh syndrome, mitochondrial | 3 | May 15, 2024 |
| Lenz-Majewski hyperostosis syndrome | 3 | Feb 10, 2014 |
| Leprechaunism syndrome | 15 | May 8, 2019 |
| Leprosy, early-onset, susceptibility to | 1 | Jan 21, 2020 |
| Leprosy, protection against | 1 | Jun 11, 2019 |
| Leprosy, susceptibility to, 3 | 1 | Aug 4, 2016 |
| Leprosy, susceptibility to, 5 | 1 | Jun 11, 2019 |
| Leptin dysfunction | 3 | Jul 14, 2023 |
| Leri-Weill dyschondrosteosis | 13 | Nov 7, 2018 |
| Lesch-Nyhan syndrome | 40 | Sep 27, 2017 |
| Lesch-nyhan syndrome, neurologic variant | 2 | Sep 10, 2020 |
| Lessel-Kreienkamp syndrome | 6 | Jan 20, 2021 |
| Lessel-kubisch syndrome | 1 | Nov 26, 2019 |
| Lethal Kniest-like syndrome | 3 | Aug 3, 2018 |
| Lethal acantholytic epidermolysis bullosa | 4 | Nov 22, 2016 |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 7 | Feb 28, 2019 |
| Lethal congenital contracture syndrome 1 | 2 | Feb 27, 2019 |
| Lethal congenital contracture syndrome 11 | 6 | Nov 9, 2016 |
| Lethal congenital contracture syndrome 2 | 1 | Aug 3, 2021 |
| Lethal congenital contracture syndrome 3 | 1 | Apr 4, 2013 |
| Lethal congenital contracture syndrome 4 | 1 | Aug 22, 2019 |
| Lethal congenital contracture syndrome 6 | 1 | Mar 9, 2015 |
| Lethal congenital contracture syndrome 7 | 4 | Nov 27, 2018 |
| Lethal congenital contracture syndrome 8 | 4 | Jan 26, 2021 |
| Lethal congenital contracture syndrome 9 | 3 | Aug 31, 2016 |
| Lethal congenital glycogen storage disease of heart | 2 | Oct 17, 2016 |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 2 | Mar 29, 2018 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 7 | Dec 22, 2021 |
| Lethal multiple pterygium syndrome | 9 | Mar 1, 2017 |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | 2 | Apr 17, 2012 |
| Lethal osteosclerotic bone dysplasia | 14 | Apr 13, 2022 |
| Lethal polymalformative syndrome, Boissel type | 2 | Feb 24, 2016 |
| Lethal tight skin contracture syndrome | 6 | May 11, 2018 |
| Leucine-induced hypoglycemia | 1 | Apr 30, 2020 |
| Leukemia, Philadelphia chromosome-positive, resistant to imatinib | 4 | Jun 3, 2015 |
| Leukemia, acute lymphoblastic, susceptibility to | 2 | Oct 11, 2016 |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 1 | Aug 23, 2016 |
| Leukemia, acute myeloid, m0 subtype | 1 | May 20, 2019 |
| Leukemia, acute myeloid, reduced survival in, somatic | 1 | Aug 31, 2015 |
| Leukemia, acute myeloid, susceptibility to | 2 | Apr 20, 2016 |
| Leukemia, post-chemotherapy, susceptibility to | 1 | Oct 2, 2012 |
| Leukocyte adhesion deficiency 1 | 14 | May 17, 2021 |
| Leukocyte adhesion deficiency 3 | 8 | Apr 8, 2021 |
| Leukocyte adhesion deficiency type II | 4 | Aug 18, 2015 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 2 | Nov 16, 2021 |
| Leukodystrophy, childhood-onset, remitting | 1 | May 11, 2022 |
| Leukodystrophy, hypomyelinating, 14 | 2 | Aug 7, 2018 |
| Leukodystrophy, hypomyelinating, 15 | 5 | Aug 20, 2019 |
| Leukodystrophy, hypomyelinating, 16 | 1 | May 8, 2018 |
| Leukodystrophy, hypomyelinating, 17 | 1 | Jun 5, 2018 |
| Leukodystrophy, hypomyelinating, 18 | 7 | Apr 2, 2020 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 4 | Jul 31, 2022 |
| Leukodystrophy, hypomyelinating, 20 | 1 | Nov 10, 2020 |
| Leukodystrophy, hypomyelinating, 21 | 1 | May 4, 2021 |
| Leukodystrophy, hypomyelinating, 22 | 2 | May 20, 2021 |
| Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy | 2 | Jan 10, 2022 |
| Leukodystrophy, hypomyelinating, 24 | 1 | Apr 26, 2022 |
| Leukodystrophy, hypomyelinating, 25 | 4 | Feb 14, 2023 |
| Leukodystrophy, hypomyelinating, 26, with chondrodysplasia | 2 | Feb 28, 2023 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 13 | Apr 27, 2018 |
| Leukoencephalopathy with calcifications and cysts | 6 | Oct 10, 2016 |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 4 | Aug 10, 2018 |
| Leukoencephalopathy with vanishing white matter 2 | 6 | Jul 23, 2018 |
| Leukoencephalopathy with vanishing white matter 3 | 5 | Nov 7, 2018 |
| Leukoencephalopathy with vanishing white matter 4 | 10 | Dec 12, 2023 |
| Leukoencephalopathy with vanishing white matter 5 | 12 | Sep 27, 2016 |
| Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 3 | Nov 10, 2020 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 5 | Feb 10, 2022 |
| Leukoencephalopathy, hereditary diffuse, with spheroids 2 | 1 | Mar 2, 2022 |
| Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome | 1 | May 13, 2020 |
| Leukoencephalopathy, porphyria-related | 3 | Feb 19, 2024 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 2 | Mar 1, 2021 |
| Leukoencephalopathy, progressive, with ovarian failure | 4 | Jul 1, 2015 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 7 | May 24, 2022 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 9 | Jan 26, 2024 |
| Levy-Hollister syndrome | 3 | Sep 6, 2016 |
| Lewy body dementia | 4 | Dec 22, 2014 |
| Leydig cell adenoma, somatic, with male-limited precocious puberty | 1 | Jul 18, 2017 |
| Leydig cell agenesis | 10 | Jul 18, 2017 |
| Leydig cell hypoplasia, type II | 3 | Jul 18, 2017 |
| Leydig hypoplasia, type I | 1 | Jun 20, 2011 |
| Lhermitte-Duclos disease | 2 | Jun 27, 2018 |
| Li-Campeau syndrome | 6 | Feb 19, 2021 |
| Li-Fraumeni syndrome 1 | 19 | Aug 11, 2021 |
| Li-Fraumeni syndrome 2 | 2 | Nov 21, 2017 |
| Li-Ghorbani-Weisz-Hubshman syndrome | 4 | Aug 12, 2020 |
| Li-fraumeni-like syndrome | 6 | Dec 19, 2016 |
| Liang-Wang syndrome | 4 | Jan 10, 2020 |
| Liberfarb syndrome | 4 | May 20, 2020 |
| Lichtenstein-Knorr syndrome | 2 | Sep 18, 2020 |
| Liddle syndrome 1 | 7 | Sep 28, 2018 |
| Liddle syndrome 2 | 4 | Sep 27, 2018 |
| Liddle syndrome 3 | 1 | Sep 17, 2018 |
| Limb-girdle muscular dystrophy due to POMK deficiency | 1 | Jun 26, 2015 |
| Limb-mammary syndrome | 3 | Apr 4, 2023 |
| Linear nevus sebaceous syndrome | 4 | Mar 9, 2022 |
| Linear skin defects with multiple congenital anomalies 1 | 3 | May 13, 2015 |
| Linear skin defects with multiple congenital anomalies 2 | 3 | May 13, 2015 |
| Linear skin defects with multiple congenital anomalies 3 | 2 | Dec 6, 2016 |
| Lipase deficiency, combined | 2 | Aug 19, 2014 |
| Lipid proteinosis | 7 | Mar 19, 2013 |
| Lipodystrophy, congenital generalized, type 5 | 3 | Jan 19, 2024 |
| Lipodystrophy, familial partial, type 8 | 1 | Jan 18, 2024 |
| Lipodystrophy, familial partial, type 9 | 3 | Jan 25, 2024 |
| Lipoic acid synthetase deficiency | 5 | Apr 24, 2023 |
| Lipoma, somatic | 1 | Nov 28, 2012 |
| Lipoprotein glomerulopathy | 2 | Jan 10, 2018 |
| Lipoprotein(a) deficiency, congenital | 2 | Aug 7, 2020 |
| Lipoyl transferase 1 deficiency | 4 | Apr 29, 2015 |
| Lisch epithelial corneal dystrophy | 2 | Mar 19, 2024 |
| Lissencephaly 10 | 5 | May 11, 2020 |
| Lissencephaly 4 | 4 | Jul 30, 2024 |
| Lissencephaly 6 with microcephaly | 6 | Jun 1, 2017 |
| Lissencephaly 7 with cerebellar hypoplasia | 1 | Mar 1, 2022 |
| Lissencephaly 8 | 5 | Dec 17, 2016 |
| Lissencephaly 9 with complex brainstem malformation | 6 | Feb 15, 2019 |
| Lissencephaly due to LIS1 mutation | 8 | Mar 21, 2013 |
| Lissencephaly due to TUBA1A mutation | 9 | Oct 14, 2021 |
| Lissencephaly type 1 due to doublecortin gene mutation | 8 | Dec 19, 2019 |
| Liver disease, severe congenital | 6 | Aug 15, 2022 |
| Loeys-Dietz syndrome 1 | 8 | Sep 28, 2018 |
| Loeys-Dietz syndrome 2 | 17 | Jan 4, 2021 |
| Loeys-Dietz syndrome 4 | 5 | Mar 6, 2018 |
| Loeys-Dietz syndrome 6 | 6 | Dec 10, 2021 |
| Long QT syndrome 1 | 28 | Oct 26, 2017 |
| Long QT syndrome 1, recessive | 2 | May 2, 2017 |
| Long QT syndrome 1/2, digenic | 6 | Apr 23, 2017 |
| Long QT syndrome 10 | 1 | Feb 26, 2008 |
| Long QT syndrome 11 | 1 | May 2, 2017 |
| Long QT syndrome 12 | 2 | Sep 23, 2015 |
| Long QT syndrome 13 | 1 | Apr 23, 2017 |
| Long QT syndrome 14 | 3 | Feb 24, 2020 |
| Long QT syndrome 15 | 7 | Feb 21, 2020 |
| Long QT syndrome 16 | 2 | Feb 21, 2020 |
| Long QT syndrome 2 | 21 | Apr 23, 2017 |
| Long QT syndrome 2/3, digenic | 2 | Oct 10, 2016 |
| Long QT syndrome 2/5, digenic | 2 | Jun 11, 2019 |
| Long QT syndrome 2/9, digenic | 2 | Sep 25, 2018 |
| Long QT syndrome 3 | 10 | Jan 12, 2017 |
| Long QT syndrome 3, acquired, susceptibility to | 2 | Sep 1, 2020 |
| Long QT syndrome 3/6, digenic | 2 | Nov 9, 2016 |
| Long QT syndrome 4 | 2 | Aug 20, 2010 |
| Long QT syndrome 5 | 2 | Jan 28, 2019 |
| Long QT syndrome 5, acquired, susceptibility to | 1 | Jun 11, 2019 |
| Long QT syndrome 6 | 2 | Feb 17, 2017 |
| Long QT syndrome 6, acquired, susceptibility to | 1 | Feb 17, 2017 |
| Long QT syndrome 9 | 5 | Sep 25, 2018 |
| Long QT syndrome 9, acquired, susceptibility to | 1 | Sep 25, 2018 |
| Long QT syndrome, bradycardia-induced | 1 | Apr 1, 2014 |
| Long qt syndrome 8 | 6 | Aug 6, 2021 |
| Long-Olsen-Distelmaier syndrome | 4 | Nov 20, 2023 |
| Lopes-Maciel-Rodan syndrome | 4 | Jul 19, 2017 |
| Loricrin keratoderma | 2 | Oct 7, 2010 |
| Low density lipoprotein cholesterol level quantitative trait locus 1 | 4 | Jun 19, 2019 |
| Low density lipoprotein cholesterol level quantitative trait locus 3 | 1 | Nov 24, 2014 |
| Low density lipoprotein cholesterol level quantitative trait locus 6 | 1 | Dec 6, 2012 |
| Low phospholipid associated cholelithiasis | 6 | Oct 18, 2017 |
| Lowe syndrome | 5 | Jun 22, 2021 |
| Lower motor neuron syndrome with late-adult onset | 1 | Oct 25, 2016 |
| Lower urinary tract obstruction, congenital | 2 | Oct 4, 2019 |
| Lowry-Wood syndrome | 8 | Sep 11, 2020 |
| Lpl-arita | 1 | Feb 26, 2013 |
| Lucey-Driscoll syndrome | 4 | Jan 3, 2018 |
| Lui-Jee-Baron syndrome | 1 | Dec 14, 2023 |
| Lumbar disc disease, susceptibility to | 1 | Jul 27, 2010 |
| Lumbar disk degeneration, susceptibility to | 1 | Nov 13, 2008 |
| Lumbar disk herniation, susceptibility to | 2 | May 21, 2015 |
| Lung adenocarcinoma | 6 | Sep 7, 2017 |
| Lung cancer susceptibility 2 | 2 | Jun 13, 2017 |
| Lung cancer, protection against | 2 | Sep 6, 2017 |
| Lung cancer, protection against, in smokers | 1 | Dec 16, 2020 |
| Lung carcinoid tumor | 1 | Nov 28, 2012 |
| Lung carcinoma | 3 | Dec 10, 2019 |
| Lung disease, immunodeficiency, and chromosome breakage syndrome; | 2 | Dec 19, 2016 |
| Luo-Schoch-Yamamoto syndrome | 2 | Aug 19, 2021 |
| Lupus nephritis, susceptibility to | 1 | Sep 30, 2020 |
| Luscan-Lumish syndrome | 4 | Oct 21, 2016 |
| Luteinizing hormone resistance, female | 4 | Jul 18, 2017 |
| Luteinizing hormone/choriogonadotropin receptor, lq variant | 1 | Jul 18, 2017 |
| Lymphangiomyomatosis | 3 | Feb 17, 2017 |
| Lymphatic malformation 10 | 3 | Jun 3, 2021 |
| Lymphatic malformation 11 | 2 | Jun 24, 2021 |
| Lymphatic malformation 12 | 4 | Aug 23, 2022 |
| Lymphatic malformation 13 | 4 | Feb 10, 2023 |
| Lymphatic malformation 14 | 3 | Nov 14, 2023 |
| Lymphatic malformation 3 | 2 | Dec 18, 2018 |
| Lymphatic malformation 4 | 2 | Jun 22, 2020 |
| Lymphatic malformation 6 | 7 | May 20, 2019 |
| Lymphatic malformation 7 | 3 | Dec 19, 2018 |
| Lymphatic malformation 8 | 1 | Mar 4, 2021 |
| Lymphatic malformation 9 | 5 | May 14, 2021 |
| Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus | 1 | Jan 2, 2019 |
| Lymphedema-posterior choanal atresia syndrome | 2 | Jan 4, 2019 |
| Lymphoproliferative syndrome 1 | 3 | Jun 27, 2017 |
| Lymphoproliferative syndrome 2 | 2 | Jan 17, 2018 |
| Lynch syndrome 1 | 17 | Nov 15, 2022 |
| Lynch syndrome 4 | 7 | Nov 15, 2022 |
| Lynch syndrome 5 | 11 | Nov 15, 2022 |
| Lynch syndrome 8 | 2 | Jun 27, 2019 |
| Lysinuric protein intolerance | 11 | Sep 27, 2016 |
| Lysosomal acid lipase deficiency | 1 | Jul 18, 2012 |
| MACRODACTYLY, SOMATIC | 2 | Oct 5, 2021 |
| MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO | 1 | Oct 15, 2007 |
| MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | 4 | Dec 29, 2016 |
| MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO | 2 | Aug 12, 2020 |
| MACULAR DYSTROPHY WITH CONE DYSFUNCTION | 3 | Mar 18, 2024 |
| MAJOR AFFECTIVE DISORDER 7, SUSCEPTIBILITY TO | 1 | Feb 28, 2019 |
| MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO | 1 | Jul 7, 2011 |
| MALE GERM CELL TUMOR, SOMATIC | 3 | Sep 26, 2016 |
| MASA syndrome | 6 | Apr 23, 2017 |
| MASS syndrome | 2 | Dec 7, 2016 |
| MAST CELL LEUKEMIA, SOMATIC | 1 | Jun 6, 2019 |
| MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC | 1 | Jun 6, 2019 |
| MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC | 1 | Jun 6, 2019 |
| MASTOCYTOSIS, SYSTEMIC, SOMATIC | 2 | Jun 6, 2019 |
| MCAD DEFICIENCY, MODIFIER OF | 1 | May 21, 2020 |
| MDR1 POLYMORPHISM | 1 | Apr 4, 2013 |
| MEDNIK syndrome | 2 | Jul 10, 2020 |
| MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | 1 | Oct 29, 2014 |
| MEGF10-related myopathy | 8 | Mar 10, 2023 |
| MEGF8-related Carpenter syndrome | 4 | Apr 5, 2017 |
| MEHMO syndrome | 5 | Apr 26, 2022 |
| MELANOCORTIN 4 RECEPTOR POLYMORPHISM | 1 | May 1, 2019 |
| MELAS syndrome | 16 | Dec 13, 2018 |
| MEND syndrome | 4 | Sep 20, 2018 |
| MERFF syndrome | 1 | Aug 31, 2009 |
| MERRF syndrome | 6 | Feb 8, 2018 |
| MERRF/MELAS overlap syndrome | 5 | Sep 11, 2017 |
| METHEMOGLOBINEMIA, BETA TYPE | 3 | May 21, 2018 |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | 5 | Nov 19, 2021 |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblL TYPE | 1 | Sep 17, 2024 |
| METHYLMALONIC ACIDURIA, cblD TYPE | 3 | Jan 12, 2018 |
| METHYLMALONIC ACIDURIA, mut(-) TYPE | 3 | Dec 20, 2021 |
| METHYLMALONIC ACIDURIA, mut(0) TYPE | 11 | Jan 14, 2022 |
| MFSD12 POLYMORPHISM | 1 | Feb 3, 2020 |
| MGAT2-congenital disorder of glycosylation | 5 | Sep 18, 2015 |
| MHC class I deficiency | 3 | May 21, 2024 |
| MHC class I deficiency 2 | 2 | May 21, 2024 |
| MHC class I deficiency 3 | 1 | Feb 2, 2009 |
| MHC class II deficiency 1 | 7 | May 23, 2024 |
| MHC class II deficiency 2 | 8 | May 23, 2024 |
| MHC class II deficiency 3 | 8 | May 23, 2024 |
| MHC class II deficiency 4 | 7 | May 23, 2024 |
| MHC class II deficiency 5 | 1 | Nov 7, 2002 |
| MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | 2 | Oct 5, 2016 |
| MICROPHTHALMIA, SYNDROMIC 15 | 4 | Jul 30, 2019 |
| MICROPHTHALMIA/COLOBOMA 13 | 1 | Sep 27, 2024 |
| MICROTIA WITHOUT HEARING IMPAIRMENT | 1 | Apr 20, 2018 |
| MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO | 1 | Sep 6, 2016 |
| MIRAGE syndrome | 3 | Dec 10, 2020 |
| MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY | 3 | May 14, 2024 |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 | 1 | Dec 13, 2018 |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 | 2 | Dec 13, 2018 |
| MITOCHONDRIAL SKELETAL MYOPATHY | 1 | May 14, 2024 |
| MOGS-congenital disorder of glycosylation | 4 | Mar 26, 2017 |
| MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME | 10 | Nov 13, 2024 |
| MORM syndrome | 1 | Dec 1, 2014 |
| MPDU1-congenital disorder of glycosylation | 5 | Aug 18, 2015 |
| MPI-congenital disorder of glycosylation | 5 | Mar 27, 2017 |
| MSH2 POLYMORPHISM | 1 | Mar 26, 2013 |
| MTHFR THERMOLABILE POLYMORPHISM | 2 | Jun 11, 2019 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE | 2 | Feb 28, 2017 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | 1 | Mar 28, 2013 |
| MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS | 2 | Oct 19, 2020 |
| MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | 3 | Oct 19, 2020 |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10 | 5 | Sep 25, 2024 |
| MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO | 1 | Apr 12, 2018 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC | 1 | Sep 25, 2018 |
| MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES | 1 | Sep 10, 2024 |
| MYH7-related skeletal myopathy | 4 | Oct 14, 2019 |
| MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2 | 1 | Oct 18, 2024 |
| MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, WITHOUT EPISODIC RHABDOMYOLYSIS 2 | 1 | Oct 18, 2024 |
| MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF | 2 | Aug 10, 2018 |
| MYPN-related myopathy | 7 | Aug 3, 2023 |
| Macrocephaly and epileptic encephalopathy | 1 | Sep 12, 2013 |
| Macrocephaly, acquired, with impaired intellectual development | 7 | Jan 23, 2019 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 5 | Apr 14, 2021 |
| Macrocephaly, macrosomia, facial dysmorphism syndrome | 4 | Mar 5, 2019 |
| Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | 5 | Jun 17, 2022 |
| Macrocephaly-autism syndrome | 10 | Jun 28, 2018 |
| Macrocephaly-developmental delay syndrome | 5 | Apr 7, 2023 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 4 | Sep 16, 2020 |
| Macrocephaly/megalencephaly syndrome, autosomal recessive | 2 | Aug 21, 2014 |
| Macroglobulinemia, Waldenstrom, somatic | 1 | Oct 2, 2014 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 14 | Jan 15, 2019 |
| Macrothrombocytopenia, familial, Bernard-Soulier type | 2 | May 15, 2015 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 4 | Oct 12, 2023 |
| Macrothrombocytopenia, isolated, 2, autosomal dominant | 4 | Apr 26, 2022 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 6 | Apr 9, 2018 |
| Macular corneal dystrophy | 6 | Sep 28, 2015 |
| Macular corneal dystrophy, type II | 4 | Sep 28, 2015 |
| Macular degeneration | 1 | May 27, 2014 |
| Macular degeneration, X-linked atrophic | 1 | May 2, 2012 |
| Macular degeneration, age-related, 13, susceptibility to | 2 | Mar 31, 2021 |
| Macular degeneration, age-related, 3 | 7 | Mar 2, 2022 |
| Macular degeneration, early-onset | 2 | Dec 4, 2014 |
| Macular dystrophy with central cone involvement | 3 | Apr 1, 2020 |
| Macular dystrophy with or without cone dysfunction | 2 | Mar 18, 2024 |
| Macular dystrophy, retinal, 4 | 1 | Jul 26, 2022 |
| Macular dystrophy, retinal, 5 | 4 | Mar 30, 2023 |
| Majeed syndrome | 2 | May 25, 2016 |
| Major depressive disorder, response to citalopram therapy in | 1 | Sep 25, 2013 |
| Malan overgrowth syndrome | 3 | Jan 27, 2022 |
| Malaria, cerebral, resistance to | 2 | Aug 27, 2020 |
| Malaria, cerebral, susceptibility to | 5 | Sep 6, 2016 |
| Malaria, mild, susceptibility to | 1 | Oct 10, 2011 |
| Malaria, resistance to | 7 | Jun 20, 2020 |
| Malaria, severe, resistance to | 2 | Jun 4, 2020 |
| Malaria, severe, susceptibility to | 1 | Sep 30, 2020 |
| Malaria, susceptibility to | 2 | Jun 23, 2020 |
| Maleylacetoacetate isomerase deficiency | 4 | Jul 26, 2017 |
| Malignant hyperthermia, susceptibility to, 1 | 15 | Oct 11, 2021 |
| Malignant hyperthermia, susceptibility to, 5 | 1 | Apr 21, 2021 |
| Malignant rhabdoid tumor, somatic | 2 | Mar 9, 2017 |
| Malignant tumor of esophagus | 1 | Aug 4, 2016 |
| Malignant tumor of prostate | 11 | Mar 27, 2018 |
| Malignant tumor of testis | 2 | Aug 4, 2016 |
| Malignant tumor of urinary bladder | 5 | Jan 29, 2018 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 1 | Sep 9, 2015 |
| Mandibuloacral dysplasia progeroid syndrome | 5 | Jan 4, 2021 |
| Mandibuloacral dysplasia with type A lipodystrophy | 5 | Mar 11, 2022 |
| Mandibuloacral dysplasia with type A lipodystrophy, atypical | 4 | Mar 11, 2022 |
| Mandibuloacral dysplasia with type B lipodystrophy | 5 | May 11, 2018 |
| Mandibulofacial dysostosis with alopecia | 2 | Mar 9, 2018 |
| Mandibulofacial dysostosis-microcephaly syndrome | 8 | Dec 6, 2017 |
| Mannose-binding lectin deficiency | 3 | Nov 28, 2016 |
| Mantle cell lymphoma | 3 | Aug 27, 2020 |
| Maple syrup urine disease | 9 | Oct 20, 2016 |
| Maple syrup urine disease type 1B | 6 | Apr 29, 2015 |
| Maple syrup urine disease type 2 | 12 | Jul 16, 2015 |
| Maple syrup urine disease, mild variant | 2 | May 24, 2024 |
| Marbach-Rustad progeroid syndrome | 1 | May 12, 2021 |
| Marbach-Schaaf neurodevelopmental syndrome | 3 | Dec 23, 2021 |
| Marden-Walker syndrome | 1 | Sep 11, 2018 |
| Marfan syndrome | 32 | Dec 7, 2016 |
| Marfan syndrome, atypical | 3 | Dec 21, 2017 |
| Marfan syndrome, autosomal recessive | 2 | Sep 28, 2016 |
| Marfan syndrome, mild | 1 | Apr 11, 2013 |
| Marfan syndrome, mild variable | 1 | Dec 7, 2016 |
| Marfan syndrome, severe classic | 1 | Dec 7, 2016 |
| Marinesco-Sjögren syndrome | 10 | Sep 13, 2019 |
| Marshall syndrome | 3 | Aug 12, 2019 |
| Marshall-Smith syndrome | 12 | Apr 14, 2020 |
| Marshall/Stickler syndrome | 1 | May 21, 2015 |
| Martsolf syndrome 1 | 4 | Jul 7, 2021 |
| Martsolf syndrome 2 | 2 | Jul 8, 2021 |
| Mast syndrome | 6 | May 11, 2023 |
| Mastocytosis | 1 | Jul 12, 2018 |
| Matthew-Wood syndrome | 15 | Nov 8, 2019 |
| Maturity-onset diabetes of the young type 1 | 6 | Oct 2, 2018 |
| Maturity-onset diabetes of the young type 10 | 2 | May 16, 2013 |
| Maturity-onset diabetes of the young type 11 | 5 | Feb 14, 2020 |
| Maturity-onset diabetes of the young type 13 | 2 | Apr 6, 2017 |
| Maturity-onset diabetes of the young type 14 | 2 | Aug 10, 2015 |
| Maturity-onset diabetes of the young type 2 | 10 | Jul 14, 2020 |
| Maturity-onset diabetes of the young type 3 | 17 | Sep 4, 2020 |
| Maturity-onset diabetes of the young type 4 | 2 | Dec 2, 2016 |
| Maturity-onset diabetes of the young type 6 | 1 | Oct 26, 2015 |
| Maturity-onset diabetes of the young type 7 | 2 | Feb 19, 2009 |
| Maturity-onset diabetes of the young type 8 | 2 | May 11, 2018 |
| Maturity-onset diabetes of the young type 9 | 2 | Mar 23, 2018 |
| McArdle disease, mild | 2 | Dec 13, 2016 |
| McCune-Albright syndrome | 3 | Sep 26, 2017 |
| McKusick-Kaufman syndrome | 3 | Aug 25, 2020 |
| McLeod neuroacanthocytosis syndrome | 8 | Oct 10, 2016 |
| Meacham syndrome | 2 | Oct 18, 2016 |
| Meckel syndrome 13 | 2 | Jul 14, 2017 |
| Meckel syndrome 14 | 6 | May 13, 2022 |
| Meckel syndrome, type 1 | 5 | Sep 23, 2016 |
| Meckel syndrome, type 10 | 2 | May 13, 2022 |
| Meckel syndrome, type 11 | 2 | May 21, 2015 |
| Meckel syndrome, type 2 | 3 | Sep 12, 2013 |
| Meckel syndrome, type 3 | 7 | Dec 4, 2018 |
| Meckel syndrome, type 4 | 4 | Jun 15, 2018 |
| Meckel syndrome, type 5 | 3 | Dec 1, 2020 |
| Meckel syndrome, type 6 | 1 | Jan 30, 2017 |
| Meckel syndrome, type 6, modifier of | 1 | Mar 30, 2018 |
| Meckel syndrome, type 8 | 1 | Nov 23, 2015 |
| Meckel syndrome, type 9 | 2 | Sep 23, 2016 |
| Meconium ileus | 2 | Oct 18, 2019 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 15 | Aug 12, 2021 |
| Medulloblastoma | 12 | Oct 13, 2022 |
| Meester-Loeys syndrome | 4 | May 10, 2017 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 4 | Jan 10, 2019 |
| Megabladder, congenital | 3 | Dec 23, 2019 |
| Megaconial type congenital muscular dystrophy | 5 | May 7, 2015 |
| Megacystis, microcolon, hypoperistalsis syndrome | 1 | Nov 7, 2019 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 1 | May 27, 2021 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 5 | Jun 1, 2021 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 | 1 | Jun 2, 2021 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | 1 | Jun 16, 2021 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 9 | Jul 15, 2021 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 12 | Sep 28, 2016 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 5 | Oct 29, 2014 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 2 | Oct 29, 2014 |
| Megalencephalic leukoencephalopathy with subcortical cysts 3 | 2 | Jul 19, 2023 |
| Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting | 1 | Jul 19, 2023 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 5 | Aug 28, 2020 |
| Megalencephaly-polydactyly syndrome | 2 | Mar 6, 2024 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2 | Aug 19, 2014 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 3 | Jun 10, 2021 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 6 | Sep 3, 2020 |
| Megaloblastic anemia, folate-responsive | 1 | Apr 8, 2021 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 10 | Nov 22, 2017 |
| Megalocornea | 6 | Mar 13, 2018 |
| Meier-Gorlin syndrome 1 | 7 | Dec 20, 2017 |
| Meier-Gorlin syndrome 2 | 3 | Aug 26, 2019 |
| Meier-Gorlin syndrome 3 | 5 | Aug 26, 2019 |
| Meier-Gorlin syndrome 4 | 5 | Jul 22, 2015 |
| Meier-Gorlin syndrome 5 | 1 | Aug 10, 2016 |
| Meier-Gorlin syndrome 6 | 3 | Jun 25, 2019 |
| Meier-Gorlin syndrome 7 | 9 | Oct 20, 2016 |
| Meier-Gorlin syndrome 8 | 2 | Jul 10, 2017 |
| Melanoma | 4 | Mar 17, 2022 |
| Melanoma and neural system tumor syndrome | 1 | Apr 2, 2013 |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 4 | Aug 4, 2016 |
| Melanoma, cutaneous malignant, susceptibility to, 2 | 19 | Nov 26, 2019 |
| Melanoma, cutaneous malignant, susceptibility to, 3 | 2 | Oct 4, 2019 |
| Melanoma, cutaneous malignant, susceptibility to, 5 | 1 | Aug 17, 2017 |
| Melanoma, cutaneous malignant, susceptibility to, 6 | 1 | Feb 21, 2017 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 2 | Feb 3, 2020 |
| Melanoma, cutaneous malignant, susceptibility to, 9 | 1 | Nov 15, 2019 |
| Melanoma, uveal, susceptibility to, 1 | 4 | Aug 8, 2022 |
| Melanoma, uveal, susceptibility to, 2 | 2 | Aug 4, 2022 |
| Melanoma-pancreatic cancer syndrome | 3 | Nov 26, 2019 |
| Melioidosis, resistance to | 1 | Nov 19, 2018 |
| Melnick-Needles syndrome | 2 | Nov 7, 2018 |
| Melorheostosis | 3 | Jun 23, 2020 |
| Melorheostosis with osteopoikilosis | 2 | Jun 22, 2020 |
| Memory impairment, susceptibility to | 1 | Sep 18, 2019 |
| Memory quantitative trait locus | 1 | Jan 13, 2014 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | 3 | Jan 8, 2018 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 8 | Sep 9, 2014 |
| Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 3 | May 14, 2015 |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 1 | Jun 8, 2018 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 6 | Oct 4, 2018 |
| Meningioma | 4 | Jan 29, 2018 |
| Menke-Hennekam syndrome 1 | 5 | Feb 22, 2019 |
| Menke-Hennekam syndrome 2 | 2 | Feb 26, 2019 |
| Menkes disease, copper-replacement responsive | 1 | Nov 3, 2020 |
| Menkes disease, mild | 1 | Apr 4, 2013 |
| Menkes kinky-hair syndrome | 6 | Nov 3, 2020 |
| Menstrual cycle-dependent periodic fever | 1 | Jun 6, 2012 |
| Mephenytoin, poor metabolism of | 4 | May 14, 2018 |
| Merosin deficient congenital muscular dystrophy | 10 | Oct 8, 2018 |
| Mesoaxial synostotic syndactyly with phalangeal reduction | 3 | Jan 11, 2022 |
| Mesothelioma | 3 | Sep 26, 2016 |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 2 | May 13, 2019 |
| Metabolic myopathy due to lactate transporter defect | 2 | Feb 14, 2019 |
| Metabolic syndrome, susceptibility to | 2 | Jun 3, 2019 |
| Metachondromatosis | 11 | Aug 17, 2016 |
| Metachromatic leukodystrophy | 11 | Nov 7, 2018 |
| Metachromatic leukodystrophy, adult type | 7 | Nov 7, 2018 |
| Metachromatic leukodystrophy, juvenile type | 5 | Nov 7, 2018 |
| Metachromatic leukodystrophy, late infantile form | 6 | Nov 7, 2018 |
| Metachromatic leukodystrophy, late-onset | 1 | Mar 13, 2013 |
| Metachromatic leukodystrophy, mild | 2 | Nov 7, 2018 |
| Metachromatic leukodystrophy, severe | 9 | Nov 7, 2018 |
| Metaphyseal anadysplasia 1, autosomal dominant | 2 | Oct 9, 2009 |
| Metaphyseal anadysplasia 2 | 2 | Apr 28, 2022 |
| Metaphyseal chondrodysplasia, Jansen type | 4 | Jul 1, 2021 |
| Metaphyseal chondrodysplasia, McKusick type | 12 | Jun 17, 2019 |
| Metaphyseal chondrodysplasia, Schmid type | 20 | Apr 4, 2022 |
| Metaphyseal chondrodysplasia, Spahr type | 3 | Mar 27, 2017 |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 4 | May 11, 2017 |
| Metaphyseal dysplasia without hypotrichosis | 8 | Sep 21, 2022 |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 2 | Oct 11, 2019 |
| Metatropic dysplasia | 14 | Jan 31, 2022 |
| Methemoglobinemia type 2 | 10 | Jul 31, 2015 |
| Methemoglobinemia type 4 | 3 | May 17, 2018 |
| Methemoglobinemia, type I | 8 | Apr 29, 2016 |
| Methylcobalamin deficiency type cblE | 6 | Dec 6, 2017 |
| Methylcobalamin deficiency type cblG | 10 | Aug 19, 2015 |
| Methylmalonate semialdehyde dehydrogenase deficiency | 6 | May 28, 2020 |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 2 | Feb 2, 2023 |
| Methylmalonic acidemia due to transcobalamin receptor defect | 1 | Jan 18, 2017 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 4 | Dec 9, 2021 |
| Methylmalonic acidemia with homocystinuria, type cblX | 5 | Dec 22, 2021 |
| Methylmalonic aciduria and homocystinuria type cblD | 3 | Jan 12, 2018 |
| Methylmalonic aciduria and homocystinuria type cblF | 3 | Feb 8, 2018 |
| Methylmalonic aciduria, cblA type | 5 | Mar 9, 2021 |
| Methylmalonic aciduria, cblB type | 10 | Mar 9, 2021 |
| Mevalonic aciduria | 9 | Jun 2, 2022 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 4 | Sep 6, 2019 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 2 | Nov 29, 2018 |
| Microcephalic osteodysplastic primordial dwarfism type II | 13 | Feb 2, 2021 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 5 | Apr 3, 2019 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 5 | Feb 19, 2019 |
| Microcephalic primordial dwarfism, Alazami type | 5 | Jul 25, 2019 |
| Microcephaly 1, primary, autosomal recessive | 7 | Jul 20, 2020 |
| Microcephaly 11, primary, autosomal recessive | 1 | Nov 25, 2019 |
| Microcephaly 12, primary, autosomal recessive | 1 | Oct 3, 2019 |
| Microcephaly 13, primary, autosomal recessive | 2 | Feb 13, 2020 |
| Microcephaly 14, primary, autosomal recessive | 3 | Sep 10, 2020 |
| Microcephaly 15, primary, autosomal recessive | 7 | Aug 9, 2022 |
| Microcephaly 16, primary, autosomal recessive | 6 | Feb 24, 2023 |
| Microcephaly 17, primary, autosomal recessive | 6 | Sep 2, 2016 |
| Microcephaly 18, primary, autosomal dominant | 1 | Jun 12, 2017 |
| Microcephaly 19, primary, autosomal recessive | 1 | May 24, 2022 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 13 | Mar 5, 2019 |
| Microcephaly 20, primary, autosomal recessive | 7 | Mar 29, 2018 |
| Microcephaly 21, primary, autosomal recessive | 1 | May 18, 2018 |
| Microcephaly 22, primary, autosomal recessive | 3 | May 17, 2018 |
| Microcephaly 23, primary, autosomal recessive | 1 | May 17, 2018 |
| Microcephaly 24, primary, autosomal recessive | 1 | Nov 13, 2018 |
| Microcephaly 25, primary, autosomal recessive | 1 | Mar 12, 2019 |
| Microcephaly 26, primary, autosomal dominant | 6 | Feb 19, 2021 |
| Microcephaly 27, primary, autosomal dominant | 2 | Feb 19, 2021 |
| Microcephaly 28, primary, autosomal recessive | 1 | Jul 23, 2021 |
| Microcephaly 29, primary, autosomal recessive | 1 | Sep 21, 2022 |
| Microcephaly 3, primary, autosomal recessive | 9 | Mar 8, 2018 |
| Microcephaly 30, primary, autosomal recessive | 3 | Dec 25, 2022 |
| Microcephaly 4, primary, autosomal recessive | 3 | Feb 20, 2018 |
| Microcephaly 5, primary, autosomal recessive | 11 | Sep 8, 2018 |
| Microcephaly 6, primary, autosomal recessive | 4 | Oct 4, 2016 |
| Microcephaly 7, primary, autosomal recessive | 5 | Jun 1, 2020 |
| Microcephaly 8, primary, autosomal recessive | 2 | Mar 29, 2017 |
| Microcephaly 9, primary, autosomal recessive | 3 | Oct 6, 2016 |
| Microcephaly and chorioretinopathy 1 | 6 | Jul 1, 2016 |
| Microcephaly and chorioretinopathy 2 | 2 | Mar 29, 2018 |
| Microcephaly and chorioretinopathy 3 | 4 | May 1, 2015 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 11 | Dec 18, 2017 |
| Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | 1 | May 18, 2021 |
| Microcephaly, developmental delay, and brittle hair syndrome | 5 | Aug 12, 2021 |
| Microcephaly, epilepsy, and diabetes syndrome 1 | 3 | Apr 16, 2021 |
| Microcephaly, epilepsy, and diabetes syndrome 2 | 5 | Apr 16, 2021 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 1 | Oct 5, 2018 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 1 | Mar 8, 2019 |
| Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 3 | Aug 30, 2018 |
| Microcephaly, normal intelligence and immunodeficiency | 9 | Oct 11, 2016 |
| Microcephaly, seizures, and developmental delay | 4 | Oct 8, 2020 |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 2 | Sep 10, 2019 |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 1 | Feb 16, 2016 |
| Microcephaly, short stature, and limb abnormalities | 7 | Aug 5, 2017 |
| Microcephaly-capillary malformation syndrome | 7 | Oct 5, 2016 |
| Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | 3 | Jan 11, 2022 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 7 | Feb 11, 2022 |
| Microcephaly-micromelia syndrome | 1 | Aug 5, 2017 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 5 | Mar 28, 2022 |
| Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 | 1 | Oct 13, 2021 |
| Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | 1 | Nov 3, 2020 |
| Microcornea-myopic chorioretinal atrophy | 4 | Oct 3, 2013 |
| Microcytic anemia with liver iron overload | 5 | Jun 11, 2015 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 9 | Mar 31, 2020 |
| Micropenis | 2 | Jun 20, 2016 |
| Microphthalmia with brain and digit anomalies | 6 | Jul 6, 2018 |
| Microphthalmia with limb anomalies | 3 | Oct 20, 2015 |
| Microphthalmia, cataracts, and iris abnormalities | 2 | Jan 11, 2011 |
| Microphthalmia, isolated, with coloboma 10 | 2 | Sep 10, 2019 |
| Microphthalmia, isolated, with coloboma 3 | 1 | Jan 11, 2011 |
| Microphthalmia, isolated, with coloboma 5 | 1 | Nov 28, 2012 |
| Microphthalmia, isolated, with coloboma 6 | 3 | Feb 21, 2024 |
| Microphthalmia, isolated, with coloboma 7 | 2 | Sep 11, 2012 |
| Microphthalmia, isolated, with coloboma 8 | 1 | Nov 8, 2017 |
| Microphthalmia, isolated, with coloboma 9 | 1 | Jul 30, 2019 |
| Microphthalmia, syndromic 1 | 5 | May 5, 2021 |
| Microphthalmia, syndromic 11 | 1 | Feb 2, 2015 |
| Microphthalmia, syndromic 12 | 4 | Mar 15, 2022 |
| Microphthalmia/coloboma 11 | 6 | Feb 22, 2024 |
| Microspherophakia | 6 | Jul 21, 2021 |
| Microtia with or without hearing impairment | 1 | Apr 20, 2018 |
| Microvascular complications of diabetes, susceptibility to, 1 | 1 | Mar 4, 2013 |
| Microvascular complications of diabetes, susceptibility to, 2 | 1 | Mar 16, 2018 |
| Microvascular complications of diabetes, susceptibility to, 3 | 1 | Mar 18, 2022 |
| Microvascular complications of diabetes, susceptibility to, 4 | 1 | Nov 4, 2021 |
| Microvascular complications of diabetes, susceptibility to, 5 | 1 | Sep 14, 2012 |
| Microvascular complications of diabetes, susceptibility to, 6 | 1 | Oct 19, 2020 |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 3 | Apr 29, 2022 |
| Migraine with or without aura, susceptibility to | 1 | Apr 19, 2013 |
| Migraine, familial basilar | 1 | Aug 4, 2016 |
| Migraine, familial hemiplegic, 1 | 12 | Nov 10, 2020 |
| Migraine, familial hemiplegic, 2 | 14 | Nov 10, 2021 |
| Migraine, familial hemiplegic, 3 | 3 | Oct 9, 2020 |
| Migraine, resistance to | 1 | Mar 9, 2018 |
| Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | 1 | Sep 7, 2017 |
| Migraine, with or without aura, susceptibility to, 13 | 1 | Mar 10, 2020 |
| Mild Canavan disease | 1 | Dec 3, 2019 |
| Mild hemophilia A | 1 | Mar 27, 2018 |
| Mild non-PKU hyperphenylalanemia | 2 | Apr 14, 2015 |
| Miller syndrome | 9 | Jun 21, 2018 |
| Mineralocorticoid deficiency, isolated | 1 | Aug 10, 2016 |
| Mirror movements 1 | 8 | Oct 22, 2021 |
| Mirror movements 2 | 3 | Dec 20, 2017 |
| Mirror movements 3 | 1 | Nov 3, 2014 |
| Mirror movements 4 | 3 | Jan 9, 2019 |
| Mismatch repair cancer syndrome 1 | 11 | Jan 22, 2021 |
| Mismatch repair cancer syndrome 2 | 4 | Nov 24, 2020 |
| Mismatch repair cancer syndrome 3 | 3 | Nov 24, 2020 |
| Mismatch repair cancer syndrome 4 | 13 | Nov 24, 2020 |
| Mitchell syndrome | 1 | Jul 22, 2020 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 4 | Apr 29, 2024 |
| Mitochondrial DNA depletion syndrome 1 | 15 | Oct 10, 2016 |
| Mitochondrial DNA depletion syndrome 11 | 2 | Feb 19, 2013 |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 2 | Nov 15, 2016 |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 4 | Nov 14, 2016 |
| Mitochondrial DNA depletion syndrome 13 | 5 | Oct 14, 2013 |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 | Oct 15, 2021 |
| Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 1 | Oct 20, 2020 |
| Mitochondrial DNA depletion syndrome 16A | 1 | Jul 15, 2021 |
| Mitochondrial DNA depletion syndrome 17 | 3 | Mar 7, 2024 |
| Mitochondrial DNA depletion syndrome 18 | 1 | Mar 18, 2020 |
| Mitochondrial DNA depletion syndrome 19 | 2 | Nov 10, 2020 |
| Mitochondrial DNA depletion syndrome 20 (mngie type) | 8 | Mar 15, 2022 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 10 | Aug 2, 2021 |
| Mitochondrial DNA depletion syndrome 4b | 6 | Oct 11, 2016 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 7 | Aug 12, 2016 |
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | 2 | Dec 28, 2020 |
| Mitochondrial DNA depletion syndrome 8a | 7 | Dec 29, 2020 |
| Mitochondrial DNA depletion syndrome 9 | 6 | Jun 7, 2021 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 5 | Oct 3, 2013 |
| Mitochondrial DNA depletion syndrome, myopathic form | 6 | Aug 12, 2016 |
| Mitochondrial complex 1 deficiency, mitochondrial type 1 | 3 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 10 | 5 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 11 | 4 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 12 | 2 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 13 | 4 | Sep 18, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 14 | 1 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 15 | 1 | Jan 22, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 8 | Jun 7, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 17 | 10 | Apr 15, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 18 | 5 | Dec 21, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 3 | Jan 31, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 2 | 7 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 9 | Jul 21, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 22 | 4 | Feb 1, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 23 | 8 | May 13, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 24 | 1 | Sep 4, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 25 | 2 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 26 | 2 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 27 | 2 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 28 | 3 | Jul 16, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 29 | 4 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 3 | 3 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 30 | 1 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 31 | 2 | Jan 26, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 32 | 4 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 33 | 6 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 34 | 4 | Apr 7, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 35 | 2 | Sep 3, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 36 | 2 | Jan 29, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 37 | 2 | Apr 16, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 4 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 8 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 6 | 3 | Dec 13, 2018 |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 2 | Jan 25, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 8 | 4 | Apr 16, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 9 | 3 | Dec 13, 2018 |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 4 | Mar 16, 2021 |
| Mitochondrial complex 2 deficiency, nuclear type 3 | 3 | Jan 29, 2021 |
| Mitochondrial complex 2 deficiency, nuclear type 4 | 4 | Nov 5, 2021 |
| Mitochondrial complex 3 deficiency, nuclear type 10 | 3 | Feb 14, 2020 |
| Mitochondrial complex 3 deficiency, nuclear type 11 | 1 | Nov 28, 2022 |
| Mitochondrial complex 4 deficiency, nuclear type 10 | 1 | Oct 23, 2020 |
| Mitochondrial complex 4 deficiency, nuclear type 11 | 8 | Apr 6, 2023 |
| Mitochondrial complex 4 deficiency, nuclear type 12 | 2 | Oct 23, 2020 |
| Mitochondrial complex 4 deficiency, nuclear type 16 | 1 | Oct 23, 2020 |
| Mitochondrial complex 4 deficiency, nuclear type 17 | 4 | Oct 23, 2020 |
| Mitochondrial complex 4 deficiency, nuclear type 18 | 2 | Oct 23, 2020 |
| Mitochondrial complex 4 deficiency, nuclear type 19 | 1 | Oct 23, 2020 |
| Mitochondrial complex 4 deficiency, nuclear type 20 | 2 | Mar 7, 2024 |
| Mitochondrial complex 4 deficiency, nuclear type 21 | 1 | Jan 26, 2021 |
| Mitochondrial complex 4 deficiency, nuclear type 3 | 6 | Oct 23, 2020 |
| Mitochondrial complex 4 deficiency, nuclear type 4 | 3 | Oct 23, 2020 |
| Mitochondrial complex 4 deficiency, nuclear type 8 | 2 | Oct 23, 2020 |
| Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | 2 | Sep 17, 2018 |
| Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 | 5 | Jan 29, 2019 |
| Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 | 1 | Dec 2, 2019 |
| Mitochondrial complex I deficiency | 6 | Jan 14, 2021 |
| Mitochondrial complex I deficiency, nuclear type 1 | 7 | Feb 15, 2021 |
| Mitochondrial complex I deficiency, nuclear type 39 | 1 | Nov 23, 2022 |
| Mitochondrial complex II deficiency, nuclear type 1 | 6 | Jan 28, 2021 |
| Mitochondrial complex III deficiency nuclear type 1 | 9 | Nov 2, 2020 |
| Mitochondrial complex III deficiency nuclear type 2 | 6 | May 5, 2015 |
| Mitochondrial complex III deficiency nuclear type 3 | 1 | Apr 8, 2013 |
| Mitochondrial complex III deficiency nuclear type 4 | 1 | Oct 30, 2017 |
| Mitochondrial complex III deficiency nuclear type 5 | 2 | Jun 25, 2021 |
| Mitochondrial complex III deficiency nuclear type 6 | 2 | Oct 2, 2013 |
| Mitochondrial complex III deficiency nuclear type 7 | 2 | Oct 11, 2018 |
| Mitochondrial complex III deficiency nuclear type 8 | 5 | Nov 27, 2018 |
| Mitochondrial complex III deficiency nuclear type 9 | 1 | Dec 1, 2014 |
| Mitochondrial complex IV deficiency with recurrent myoglobinuria | 1 | May 24, 2011 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 30 | Feb 9, 2021 |
| Mitochondrial complex IV deficiency, nuclear type 22 | 1 | Jun 4, 2022 |
| Mitochondrial complex IV deficiency, nuclear type 23 | 4 | Mar 11, 2024 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 6 | Aug 13, 2020 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | 1 | Sep 14, 2018 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | 1 | Jul 17, 2020 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 | Aug 17, 2017 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | 3 | May 4, 2023 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 | 3 | May 4, 2023 |
| Mitochondrial cytochrome c oxidase deficiency | 2 | Mar 19, 2013 |
| Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) | 1 | Jul 16, 2021 |
| Mitochondrial encephalomyopathy | 6 | Mar 18, 2022 |
| Mitochondrial encephalopathy | 3 | May 22, 2017 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 4 | Mar 20, 2018 |
| Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | 2 | Oct 25, 2016 |
| Mitochondrial myopathy, episodic, without optic atrophy and reversible leukoencephalopathy | 1 | Mar 25, 2019 |
| Mitochondrial myopathy, isolated | 1 | Jan 12, 2009 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 10 | Nov 10, 2022 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 2 | Jul 27, 2015 |
| Mitochondrial non-syndromic sensorineural hearing loss | 16 | Jun 4, 2022 |
| Mitochondrial pyruvate carrier deficiency | 2 | Oct 22, 2019 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 13 | Aug 5, 2024 |
| Mitochondrial skeletal myopathy, responsive to riboflavin | 1 | Nov 12, 2012 |
| Mitochondrial trifunctional protein deficiency | 5 | Aug 16, 2016 |
| Mitochondrial trifunctional protein deficiency 1 | 8 | Feb 13, 2023 |
| Mitochondrial trifunctional protein deficiency 2 | 6 | Aug 16, 2016 |
| Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy | 1 | Aug 16, 2016 |
| Mitral valve prolapse, myxomatous 2 | 2 | Sep 23, 2016 |
| Mitral valve prolapse, myxomatous 3 | 1 | Nov 17, 2020 |
| Miyoshi muscular dystrophy 1 | 10 | Jul 15, 2020 |
| Miyoshi muscular dystrophy 3 | 3 | Sep 27, 2018 |
| Mo ALLOANTIGEN POLYMORPHISM | 1 | Dec 30, 2010 |
| Mohr syndrome | 2 | Feb 20, 2024 |
| Monocarboxylate transporter 1 deficiency, autosomal dominant | 5 | Feb 14, 2019 |
| Monocarboxylate transporter 1 deficiency, autosomal recessive | 3 | Feb 14, 2019 |
| Monocytopenia with susceptibility to infections | 10 | Apr 20, 2016 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 4 | Dec 10, 2020 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 2 | Dec 10, 2020 |
| Morbid obesity | 2 | Dec 11, 2012 |
| Mosaic variegated aneuploidy syndrome 1 | 11 | Sep 13, 2019 |
| Mosaic variegated aneuploidy syndrome 2 | 3 | Oct 8, 2018 |
| Mosaic variegated aneuploidy syndrome 3 | 2 | Jul 27, 2017 |
| Mosaic variegated aneuploidy syndrome 4 | 2 | Dec 7, 2022 |
| Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | 2 | Jan 12, 2023 |
| Mowat-Wilson syndrome | 16 | Jul 2, 2018 |
| Moyamoya disease 2 | 2 | Sep 10, 2021 |
| Moyamoya disease 5 | 3 | Jul 14, 2021 |
| Moyamoya disease 7 | 3 | Jan 30, 2024 |
| Moyamoya disease with early-onset achalasia | 7 | Aug 16, 2018 |
| Mucocutaneous ulceration, chronic | 3 | Mar 30, 2023 |
| Mucolipidosis III alpha/beta, atypical | 1 | Jul 20, 2016 |
| Mucolipidosis type II | 9 | Dec 15, 2017 |
| Mucolipidosis type IV | 10 | Mar 19, 2024 |
| Mucopolysaccharidosis type 2, severe form | 2 | Dec 9, 2016 |
| Mucopolysaccharidosis type 6 | 5 | Oct 6, 2016 |
| Mucopolysaccharidosis type 7 | 16 | Jul 17, 2017 |
| Mucopolysaccharidosis, MPS-I-H/S | 7 | Sep 8, 2020 |
| Mucopolysaccharidosis, MPS-I-S | 2 | Sep 8, 2020 |
| Mucopolysaccharidosis, MPS-II | 13 | Dec 9, 2016 |
| Mucopolysaccharidosis, MPS-III-A | 13 | Jan 19, 2017 |
| Mucopolysaccharidosis, MPS-III-B | 14 | Jul 29, 2021 |
| Mucopolysaccharidosis, MPS-III-C | 12 | Oct 5, 2016 |
| Mucopolysaccharidosis, MPS-III-D | 5 | Feb 12, 2014 |
| Mucopolysaccharidosis, MPS-IV-A | 18 | May 30, 2018 |
| Mucopolysaccharidosis, MPS-IV-B | 10 | May 12, 2021 |
| Mucopolysaccharidosis, type 10 | 2 | Jan 10, 2022 |
| Mucopolysaccharidosis, type II, mild form | 2 | Feb 12, 2014 |
| Mucopolysaccharidosis, type vi, intermediate | 1 | Apr 17, 2015 |
| Mucopolysaccharidosis, type vi, mild | 1 | Apr 17, 2015 |
| Mucopolysaccharidosis, type vi, severe | 5 | Oct 6, 2016 |
| Mucopolysaccharidosis-plus syndrome | 1 | Nov 16, 2020 |
| Mucosa-associated lymphoma | 3 | Sep 26, 2016 |
| Muenke syndrome | 1 | Jul 20, 2016 |
| Muir-Torré syndrome | 4 | Apr 20, 2018 |
| Mulibrey nanism syndrome | 8 | May 17, 2021 |
| Mullegama-Klein-Martinez syndrome | 6 | Jan 27, 2021 |
| Mullerian aplasia and hyperandrogenism | 3 | Sep 21, 2012 |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 6 | Mar 1, 2020 |
| Multicentric osteolysis, nodulosis, and arthropathy | 5 | Jan 9, 2020 |
| Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | 3 | Mar 17, 2022 |
| Multiple benign circumferential skin creases on limbs 1 | 2 | Sep 8, 2020 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 11 | Sep 29, 2016 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 6 | Oct 13, 2020 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 8 | May 24, 2023 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 5 | Aug 6, 2021 |
| Multiple cutaneous and mucosal venous malformations | 4 | Mar 7, 2018 |
| Multiple endocrine neoplasia type 2A | 18 | Feb 28, 2017 |
| Multiple endocrine neoplasia type 2B | 2 | Feb 28, 2017 |
| Multiple endocrine neoplasia type 4 | 6 | May 9, 2017 |
| Multiple endocrine neoplasia, type 1 | 27 | Dec 23, 2021 |
| Multiple epiphyseal dysplasia type 1 | 4 | Jan 19, 2021 |
| Multiple epiphyseal dysplasia type 4 | 3 | Mar 22, 2019 |
| Multiple epiphyseal dysplasia type 5 | 8 | Oct 7, 2021 |
| Multiple epiphyseal dysplasia, Al-Gazali type | 1 | Mar 20, 2020 |
| Multiple epiphyseal dysplasia, Beighton type | 1 | Mar 25, 2021 |
| Multiple fibroadenoma of the breast | 1 | Dec 5, 2013 |
| Multiple mitochondrial dysfunctions syndrome 1 | 7 | Sep 9, 2024 |
| Multiple mitochondrial dysfunctions syndrome 2 | 4 | Mar 9, 2020 |
| Multiple mitochondrial dysfunctions syndrome 3 | 13 | Dec 22, 2023 |
| Multiple mitochondrial dysfunctions syndrome 4 | 3 | Jun 18, 2018 |
| Multiple mitochondrial dysfunctions syndrome 5 | 2 | Jul 8, 2020 |
| Multiple mitochondrial dysfunctions syndrome 6 | 5 | Aug 29, 2018 |
| Multiple mitochondrial dysfunctions syndrome 7 | 7 | Jun 21, 2023 |
| Multiple mitochondrial dysfunctions syndrome 9b | 10 | Jul 13, 2024 |
| Multiple myeloma | 3 | Jun 11, 2019 |
| Multiple myeloma, resistance to | 2 | Apr 6, 2012 |
| Multiple sclerosis modifier of disease progression | 1 | Sep 3, 2020 |
| Multiple sclerosis, susceptibility to 1 | 1 | Mar 19, 2018 |
| Multiple sclerosis, susceptibility to, 5 | 1 | Sep 29, 2014 |
| Multiple self-healing squamous epithelioma | 4 | Sep 28, 2018 |
| Multiple sulfatase deficiency | 18 | Jul 1, 2016 |
| Multiple symmetric lipomatosis | 1 | Aug 29, 2016 |
| Multiple synostoses syndrome 2 | 2 | Apr 3, 2020 |
| Multiple synostoses syndrome 3 | 2 | Oct 25, 2017 |
| Multiple synostoses syndrome 4 | 2 | Mar 13, 2018 |
| Multiple system atrophy | 4 | Sep 12, 2019 |
| Multisystem disorder | 2 | Apr 23, 2012 |
| Multisystemic smooth muscle dysfunction syndrome | 4 | Jul 14, 2021 |
| Mungan syndrome | 1 | Aug 2, 2021 |
| Muscle AMP deaminase deficiency | 3 | May 4, 2015 |
| Muscular dystrophy | 1 | Jul 11, 2016 |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 5 | Sep 8, 2021 |
| Muscular dystrophy, congenital, with or without seizures | 6 | Feb 3, 2023 |
| Muscular dystrophy, congenital, with rapid progression | 3 | Feb 6, 2024 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 | Sep 26, 2018 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 4 | Oct 5, 2018 |
| Muscular dystrophy, limb-girdle, autosomal recessive 26 | 6 | Apr 11, 2024 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 5 | Oct 19, 2021 |
| Muscular dystrophy, limb-girdle, autosomal recessive 28 | 7 | Jun 21, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 12 | Nov 19, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 13 | Sep 25, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 7 | Sep 25, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 2 | Jan 16, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 2 | Sep 25, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 11 | Sep 30, 2016 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 11 | Sep 20, 2016 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 3 | Jun 8, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 4 | Jan 16, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2 | Jan 25, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 7 | Jan 16, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 7 | Apr 21, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 5 | Jul 22, 2015 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 3 | Oct 1, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | 2 | Aug 25, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 6 | Aug 19, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 3 | Aug 19, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 7 | Aug 19, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 3 | Aug 19, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 | 4 | Aug 19, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2 | Aug 19, 2020 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | 2 | Oct 1, 2018 |
| Muscular dystrophy-dystroglycanopathy type B5 | 4 | Aug 19, 2020 |
| Muscular dystrophy-dystroglycanopathy type B6 | 3 | Aug 19, 2020 |
| Mutilating keratoderma | 2 | Dec 11, 2017 |
| Myasthenic syndrome, congenital, 1B, fast-channel | 7 | Feb 16, 2017 |
| Myasthenic syndrome, congenital, 22 | 5 | Jul 11, 2018 |
| Myasthenic syndrome, congenital, 23, presynaptic | 2 | Dec 15, 2020 |
| Myasthenic syndrome, congenital, 24, presynaptic | 5 | Nov 29, 2018 |
| Myasthenic syndrome, congenital, 25, presynaptic | 5 | Apr 9, 2019 |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 4 | Aug 6, 2021 |
| Mycobacterium tuberculosis, protection against | 3 | Jun 20, 2020 |
| Mycobacterium tuberculosis, susceptibility to | 7 | Jun 22, 2017 |
| Mycobacterium tuberculosis, susceptibility to infection by | 1 | Jan 30, 2017 |
| Myelodysplastic syndrome | 4 | Nov 2, 2021 |
| Myelodysplastic syndrome with ring sideroblasts | 2 | Sep 17, 2018 |
| Myelofibrosis with myeloid metaplasia | 2 | Aug 21, 2020 |
| Myeloperoxidase deficiency | 9 | Dec 16, 2020 |
| Myhre syndrome | 4 | Sep 24, 2024 |
| Myocardial infarction, decreased susceptibility to | 2 | Jul 20, 2016 |
| Myocardial infarction, protection against | 1 | May 10, 2017 |
| Myocardial infarction, susceptibility to | 12 | Mar 18, 2022 |
| Myocardial infarction, susceptibility to, 1 | 1 | Jun 7, 2012 |
| Myoclonic dystonia 11 | 13 | Sep 6, 2018 |
| Myoclonic dystonia 26 | 1 | May 29, 2015 |
| Myoclonic epilepsy of Lafora 1 | 7 | Aug 4, 2016 |
| Myoclonic epilepsy of Lafora 2 | 7 | Jan 9, 2019 |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | 6 | Apr 30, 2018 |
| Myoclonic-astatic epilepsy | 5 | Nov 20, 2020 |
| Myoclonus, familial, 1 | 1 | Mar 21, 2019 |
| Myoclonus, familial, 2 | 1 | Dec 3, 2020 |
| Myoclonus, intractable, neonatal | 3 | Jan 31, 2017 |
| Myofibrillar myopathy | 1 | Dec 18, 2017 |
| Myofibrillar myopathy 10 | 2 | Nov 12, 2021 |
| Myofibrillar myopathy 11 | 5 | Feb 15, 2021 |
| Myofibrillar myopathy 2 | 5 | Dec 3, 2020 |
| Myofibrillar myopathy 3 | 7 | Sep 26, 2018 |
| Myofibrillar myopathy 4 | 3 | Apr 26, 2017 |
| Myofibrillar myopathy 5 | 3 | Jan 22, 2021 |
| Myofibrillar myopathy 6 | 2 | Dec 21, 2017 |
| Myofibrillar myopathy 7 | 3 | Feb 26, 2021 |
| Myofibrillar myopathy 8 | 7 | Apr 13, 2023 |
| Myofibromatosis, infantile, 1 | 2 | Aug 24, 2016 |
| Myofibromatosis, infantile, 2 | 1 | Oct 4, 2021 |
| Myoglobinuria, acute recurrent, autosomal recessive | 5 | May 25, 2022 |
| Myoglobinuria, recurrent | 1 | Feb 26, 2013 |
| Myokymia 1 | 3 | Jan 30, 2017 |
| Myokymia 1 with hypomagnesemia | 1 | Jan 30, 2017 |
| Myopathy | 2 | Aug 31, 2009 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 | Oct 26, 2016 |
| Myopathy with abnormal lipid metabolism | 6 | Sep 10, 2019 |
| Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | 8 | Nov 29, 2022 |
| Myopathy, centronuclear, 2 | 6 | Feb 8, 2019 |
| Myopathy, centronuclear, 5 | 5 | Jun 17, 2015 |
| Myopathy, centronuclear, 6, with fiber-type disproportion | 3 | Nov 7, 2017 |
| Myopathy, congenital proximal, with minicore lesions | 3 | Mar 13, 2023 |
| Myopathy, congenital, progressive, with scoliosis | 4 | Sep 12, 2019 |
| Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | 3 | Aug 13, 2020 |
| Myopathy, congenital, with excess of muscle spindles | 4 | Apr 27, 2017 |
| Myopathy, congenital, with respiratory insufficiency and bone fractures | 1 | Mar 25, 2020 |
| Myopathy, congenital, with structured cores and z-line abnormalities | 2 | Nov 8, 2019 |
| Myopathy, congenital, with tremor | 4 | Aug 22, 2019 |
| Myopathy, distal, 5 | 4 | Nov 6, 2020 |
| Myopathy, distal, 6, adult-onset, autosomal dominant | 2 | Nov 11, 2019 |
| Myopathy, distal, 7, adult-onset, X-linked | 4 | Apr 13, 2022 |
| Myopathy, distal, with rimmed vacuoles | 1 | May 18, 2017 |
| Myopathy, epilepsy, and progressive cerebral atrophy | 3 | Oct 5, 2020 |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 3 | Aug 12, 2020 |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 5 | Jul 20, 2020 |
| Myopathy, lactic acidosis, and sideroblastic anemia 3 | 1 | Nov 2, 2016 |
| Myopathy, mitochondrial, late-onset | 1 | May 22, 2017 |
| Myopathy, mitochondrial, with diabetes mellitus | 1 | Nov 12, 2012 |
| Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 4 | Aug 6, 2021 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 2 | Apr 17, 2019 |
| Myopathy, myosin storage, autosomal recessive | 5 | Mar 8, 2023 |
| Myopathy, proximal, and ophthalmoplegia | 9 | Mar 23, 2020 |
| Myopathy, reducing body, X-linked, childhood-onset | 4 | Dec 30, 2010 |
| Myopathy, reducing body, X-linked, early-onset, severe | 5 | Sep 19, 2016 |
| Myopathy, sarcoplasmic body | 1 | Mar 21, 2023 |
| Myopathy, tubular aggregate, 1 | 6 | Feb 2, 2017 |
| Myopathy, tubular aggregate, 2 | 4 | Oct 4, 2017 |
| Myopia 21, autosomal dominant | 3 | Jan 20, 2022 |
| Myopia 22, autosomal dominant | 1 | Aug 27, 2019 |
| Myopia 23, autosomal recessive | 3 | May 6, 2015 |
| Myopia 24, autosomal dominant | 2 | Aug 19, 2014 |
| Myopia 25, autosomal dominant | 3 | Dec 5, 2016 |
| Myopia 26, X-linked, female-limited | 4 | Jul 19, 2022 |
| Myopia 27 | 4 | Mar 27, 2020 |
| Myopia 28, autosomal recessive | 3 | Mar 8, 2022 |
| Myopia 6 | 3 | Oct 23, 2020 |
| Myopia, high, with cataract and vitreoretinal degeneration | 3 | Apr 29, 2016 |
| Myosclerosis | 1 | Sep 8, 2017 |
| Myosin storage myopathy | 4 | Mar 8, 2023 |
| Myosin, cardiac, heavy chain variant | 1 | Apr 17, 2018 |
| Myositis, eosinophilic | 1 | Sep 26, 2018 |
| Myostatin-related muscle hypertrophy | 1 | Aug 26, 2021 |
| Myotonia congenita, atypical, acetazolamide-responsive | 1 | May 14, 2013 |
| Myotonia fluctuans | 2 | Apr 6, 2015 |
| Myotonia levior | 1 | Mar 12, 2013 |
| Myotonia permanens | 1 | Sep 28, 2016 |
| Myotonic dystrophy type 2 | 1 | Oct 31, 2019 |
| Myotonic dystrophy-like myopathy | 1 | Apr 11, 2006 |
| N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM | 1 | Apr 10, 2020 |
| N-acetylaspartate deficiency | 1 | Jan 27, 2017 |
| NAD(P)HX dehydratase deficiency | 10 | Aug 26, 2022 |
| NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM | 1 | Dec 19, 2012 |
| NARP syndrome | 2 | Jan 29, 2019 |
| NAT1*10 ALLELE | 1 | Aug 28, 2008 |
| NAT1*17 ALLELE | 1 | Aug 28, 2008 |
| NDE1-related microhydranencephaly | 2 | Jul 14, 2022 |
| NEK9-related lethal skeletal dysplasia | 1 | Dec 18, 2019 |
| NEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED | 1 | Oct 10, 2012 |
| NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA | 4 | Nov 5, 2019 |
| NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES | 4 | Oct 18, 2024 |
| NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES | 1 | Mar 24, 2021 |
| NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES | 1 | Mar 24, 2021 |
| NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT | 1 | Mar 28, 2022 |
| NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITH OR WITHOUT SEIZURES, AUTOSOMAL RECESSIVE | 2 | Mar 28, 2022 |
| NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, AND BEHAVIORAL ABNORMALITIES | 1 | Sep 7, 2022 |
| NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES | 2 | May 25, 2022 |
| NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS | 2 | Feb 18, 2021 |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE | 1 | Nov 4, 2019 |
| NEUROPEPTIDE Y POLYMORPHISM | 1 | Oct 10, 2012 |
| NEVUS SPILUS, SOMATIC | 1 | Apr 27, 2017 |
| NOR polyagglutination syndrome | 1 | Jul 17, 2019 |
| NPHP3-related Meckel-like syndrome | 2 | Jan 19, 2018 |
| NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM | 1 | Dec 16, 2009 |
| Naegeli-Franceschetti-Jadassohn syndrome | 2 | Sep 28, 2021 |
| Nager syndrome | 5 | Mar 28, 2016 |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | 2 | Jun 26, 2018 |
| Nail-patella syndrome | 13 | Dec 11, 2020 |
| Nail-patella-like renal disease | 2 | Dec 11, 2020 |
| Namaqualand hip dysplasia | 1 | Mar 2, 2017 |
| Nance-Horan syndrome | 7 | Dec 4, 2020 |
| Nanophthalmos 2 | 4 | Aug 11, 2016 |
| Nanophthalmos 4 | 3 | Mar 10, 2016 |
| Narcolepsy 1 | 1 | Jul 27, 2015 |
| Narcolepsy 7 | 1 | Jul 27, 2015 |
| Nasopharyngeal carcinoma | 1 | Apr 9, 2013 |
| Nasopharyngeal carcinoma, susceptibility to, 3 | 1 | Aug 19, 2016 |
| Naxos disease | 5 | May 3, 2021 |
| Nemaline myopathy 10 | 7 | Apr 17, 2019 |
| Nemaline myopathy 2 | 7 | May 27, 2021 |
| Nemaline myopathy 5 | 6 | May 30, 2023 |
| Nemaline myopathy 5B, autosomal recessive, childhood-onset | 3 | May 30, 2023 |
| Nemaline myopathy 5C, autosomal dominant | 2 | May 30, 2023 |
| Nemaline myopathy 6 | 3 | Feb 7, 2022 |
| Nemaline myopathy 7 | 2 | Sep 14, 2017 |
| Nemaline myopathy 8 | 5 | Jan 11, 2018 |
| Nemaline myopathy 9 | 5 | Oct 19, 2016 |
| Neonatal Marfan syndrome | 8 | Sep 28, 2016 |
| Neonatal diabetes mellitus with congenital hypothyroidism | 4 | Aug 12, 2016 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 12 | Jan 23, 2024 |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 2 | Sep 27, 2016 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 3 | Nov 10, 2016 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 14 | May 24, 2022 |
| Neonatal severe primary hyperparathyroidism | 10 | Sep 24, 2019 |
| Neonatal-onset encephalopathy with rigidity and seizures | 7 | Aug 2, 2018 |
| Nephrogenic syndrome of inappropriate antidiuresis | 3 | Jun 23, 2021 |
| Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | 4 | May 15, 2023 |
| Nephrolithiasis, uric acid, susceptibility to | 1 | Aug 3, 2020 |
| Nephronophthisis 1 | 5 | Nov 6, 2017 |
| Nephronophthisis 11 | 4 | Aug 9, 2016 |
| Nephronophthisis 12 | 3 | Jun 18, 2018 |
| Nephronophthisis 13 | 6 | Apr 27, 2023 |
| Nephronophthisis 14 | 1 | Feb 17, 2014 |
| Nephronophthisis 15 | 5 | May 18, 2015 |
| Nephronophthisis 16 | 5 | Jun 2, 2017 |
| Nephronophthisis 18 | 7 | Nov 6, 2020 |
| Nephronophthisis 19 | 4 | Apr 13, 2022 |
| Nephronophthisis 20 | 6 | Jan 25, 2018 |
| Nephronophthisis 3 | 4 | Oct 11, 2016 |
| Nephronophthisis 4 | 6 | Jul 18, 2024 |
| Nephronophthisis 7 | 2 | Oct 25, 2021 |
| Nephronophthisis 9 | 1 | Feb 14, 2018 |
| Nephronophthisis-like nephropathy 1 | 3 | Aug 9, 2021 |
| Nephronophthisis-like nephropathy 2 | 1 | Aug 13, 2021 |
| Nephropathic cystinosis | 9 | Dec 11, 2017 |
| Nephrotic syndrome 14 | 9 | Aug 24, 2023 |
| Nephrotic syndrome 15 | 3 | Jul 18, 2018 |
| Nephrotic syndrome 16 | 2 | Jul 18, 2018 |
| Nephrotic syndrome, IIa 26 | 7 | Oct 13, 2022 |
| Nephrotic syndrome, type 10 | 3 | Sep 22, 2016 |
| Nephrotic syndrome, type 11 | 5 | Mar 11, 2019 |
| Nephrotic syndrome, type 12 | 5 | Nov 20, 2020 |
| Nephrotic syndrome, type 13 | 1 | Nov 20, 2020 |
| Nephrotic syndrome, type 17 | 4 | Nov 12, 2018 |
| Nephrotic syndrome, type 18 | 3 | Nov 12, 2018 |
| Nephrotic syndrome, type 19 | 2 | Dec 14, 2018 |
| Nephrotic syndrome, type 2 | 10 | Mar 4, 2022 |
| Nephrotic syndrome, type 2, susceptibility to | 2 | Mar 4, 2022 |
| Nephrotic syndrome, type 20 | 5 | Mar 9, 2021 |
| Nephrotic syndrome, type 21 | 4 | Sep 25, 2019 |
| Nephrotic syndrome, type 22 | 2 | Apr 8, 2021 |
| Nephrotic syndrome, type 23 | 2 | Mar 2, 2021 |
| Nephrotic syndrome, type 24 | 5 | Apr 8, 2021 |
| Nephrotic syndrome, type 3 | 10 | Apr 26, 2016 |
| Nephrotic syndrome, type 4 | 5 | Oct 18, 2016 |
| Nephrotic syndrome, type 6 | 2 | Jan 11, 2018 |
| Nephrotic syndrome, type 8 | 3 | Mar 10, 2015 |
| Nephrotic syndrome, type 9 | 7 | Nov 7, 2016 |
| Nestor-Guillermo progeria syndrome | 1 | Jun 28, 2018 |
| Netherton syndrome | 7 | Apr 8, 2019 |
| Neu-Laxova syndrome 1 | 5 | Feb 26, 2024 |
| Neu-Laxova syndrome 2 | 3 | May 27, 2020 |
| Neural tube defects, folate-sensitive, susceptibility to | 3 | Aug 11, 2020 |
| Neural tube defects, susceptibility to | 11 | May 14, 2021 |
| Neuroblastoma, susceptibility to, 1 | 3 | Mar 10, 2021 |
| Neuroblastoma, susceptibility to, 2 | 2 | Feb 20, 2018 |
| Neuroblastoma, susceptibility to, 3 | 4 | Jan 27, 2017 |
| Neurocardiofaciodigital syndrome | 6 | May 19, 2023 |
| Neurocirculatory asthenia | 1 | Nov 21, 2018 |
| Neurocutaneous melanocytosis | 2 | Sep 25, 2017 |
| Neurodegeneration | 1 | Jul 26, 2013 |
| Neurodegeneration and seizures due to copper transport defect | 2 | Mar 30, 2023 |
| Neurodegeneration with ataxia and late-onset optic atrophy | 1 | Apr 8, 2021 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 6 | Apr 7, 2022 |
| Neurodegeneration with brain iron accumulation 2B | 3 | Jul 19, 2017 |
| Neurodegeneration with brain iron accumulation 4 | 12 | Nov 21, 2019 |
| Neurodegeneration with brain iron accumulation 5 | 5 | Jul 19, 2017 |
| Neurodegeneration with brain iron accumulation 6 | 3 | Jan 9, 2019 |
| Neurodegeneration with brain iron accumulation 7 | 2 | Mar 27, 2018 |
| Neurodegeneration with brain iron accumulation 8 | 1 | Mar 27, 2018 |
| Neurodegeneration with brain iron accumulation 9 | 2 | Jan 10, 2024 |
| Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | 1 | Apr 19, 2023 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 8 | Jan 9, 2019 |
| Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | 3 | May 5, 2020 |
| Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | 1 | Dec 7, 2023 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 8 | Jan 14, 2019 |
| Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities | 2 | Sep 3, 2024 |
| Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | 5 | Oct 25, 2022 |
| Neurodegeneration, childhood-onset, with progressive microcephaly | 4 | Apr 28, 2022 |
| Neurodegeneration, infantile-onset, biotin-responsive | 6 | Jun 2, 2022 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 9 | May 29, 2020 |
| Neurodevelopmental disorder plus optic atrophy | 4 | Apr 10, 2024 |
| Neurodevelopmental disorder with absent language and variable seizures | 3 | Dec 20, 2019 |
| Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities | 1 | Mar 20, 2023 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 5 | Jan 5, 2021 |
| Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly | 2 | Dec 2, 2019 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 2 | Dec 15, 2017 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 6 | Dec 23, 2019 |
| Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | 5 | Apr 20, 2020 |
| Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 7 | Dec 14, 2020 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 6 | Jan 24, 2020 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 3 | Jan 3, 2020 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 4 | Mar 18, 2022 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 7 | May 27, 2021 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 6 | Aug 2, 2018 |
| Neurodevelopmental disorder with cerebellar hypoplasia and spasticity | 2 | Sep 11, 2019 |
| Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 6 | Apr 1, 2021 |
| Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | 3 | Aug 23, 2024 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 6 | Feb 23, 2024 |
| Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | 4 | Oct 20, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | 5 | Aug 29, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | 3 | May 7, 2021 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 6 | Jun 8, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 6 | Mar 17, 2020 |
| Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | 3 | Jan 27, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | 4 | Oct 13, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 3 | Aug 13, 2021 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 7 | Sep 6, 2022 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 5 | Feb 8, 2022 |
| Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | 3 | Dec 4, 2020 |
| Neurodevelopmental disorder with dystonia and seizures | 2 | Jun 23, 2022 |
| Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | 5 | Mar 13, 2024 |
| Neurodevelopmental disorder with epilepsy and brain atrophy | 6 | Jul 26, 2022 |
| Neurodevelopmental disorder with epilepsy and hemochromatosis | 4 | Apr 5, 2022 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 2 | Aug 17, 2018 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 1 | Mar 28, 2017 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 3 | Feb 28, 2023 |
| Neurodevelopmental disorder with eye movement abnormalities and ataxia | 5 | Oct 27, 2022 |
| Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | 5 | Oct 18, 2022 |
| Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | 5 | Jan 25, 2023 |
| Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | 6 | Nov 4, 2022 |
| Neurodevelopmental disorder with hearing loss and spasticity | 8 | Nov 17, 2021 |
| Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | 2 | Dec 8, 2021 |
| Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities | 2 | Feb 29, 2024 |
| Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | 5 | Feb 1, 2020 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 2 | Sep 2, 2021 |
| Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | 8 | Sep 17, 2021 |
| Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities | 10 | Mar 6, 2024 |
| Neurodevelopmental disorder with hypotonia and dysmorphic facies | 5 | Aug 31, 2021 |
| Neurodevelopmental disorder with hypotonia and gross motor and speech delay | 4 | Dec 1, 2021 |
| Neurodevelopmental disorder with hypotonia and seizures | 2 | Apr 25, 2024 |
| Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | 6 | Jul 31, 2023 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 5 | Sep 27, 2019 |
| Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 1 | Jul 8, 2024 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 1 | Feb 11, 2020 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | 5 | Jan 11, 2023 |
| Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | 7 | Jun 25, 2021 |
| Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities | 1 | Jun 18, 2024 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 6 | May 2, 2022 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 4 | Sep 14, 2022 |
| Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | 9 | Mar 10, 2023 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 5 | Apr 2, 2020 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 6 | Aug 13, 2018 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 4 | Jan 10, 2018 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 7 | Aug 6, 2021 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 3 | Oct 28, 2021 |
| Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies | 5 | Aug 30, 2023 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 9 | May 17, 2024 |
| Neurodevelopmental disorder with infantile epileptic spasms | 2 | Jun 16, 2021 |
| Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | 1 | Aug 11, 2022 |
| Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | 4 | May 11, 2023 |
| Neurodevelopmental disorder with involuntary movements | 5 | Jun 2, 2017 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 6 | Mar 22, 2023 |
| Neurodevelopmental disorder with language delay and seizures | 6 | Jun 14, 2022 |
| Neurodevelopmental disorder with language delay and variable cognitive abnormalities | 4 | Sep 11, 2023 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 6 | Jun 25, 2020 |
| Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | 4 | Apr 11, 2024 |
| Neurodevelopmental disorder with microcephaly and dysmorphic facies | 2 | May 1, 2020 |
| Neurodevelopmental disorder with microcephaly and movement abnormalities | 5 | Jul 21, 2023 |
| Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | 5 | Apr 19, 2023 |
| Neurodevelopmental disorder with microcephaly and structural brain anomalies | 3 | Jul 2, 2019 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 6 | Oct 16, 2019 |
| Neurodevelopmental disorder with microcephaly, ataxia, and seizures | 5 | Jun 21, 2023 |
| Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 2 | May 26, 2020 |
| Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | 7 | Sep 30, 2022 |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 7 | Feb 3, 2021 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 2 | Mar 26, 2018 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | 3 | Mar 27, 2019 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and absent language | 1 | Sep 15, 2022 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 10 | Oct 21, 2022 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 5 | Nov 18, 2020 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 1 | Nov 18, 2020 |
| Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | 5 | Sep 1, 2022 |
| Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | 1 | Nov 5, 2020 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 11 | Aug 20, 2019 |
| Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | 2 | Jan 5, 2022 |
| Neurodevelopmental disorder with microcephaly, short stature, and speech delay | 1 | Sep 7, 2022 |
| Neurodevelopmental disorder with midbrain and hindbrain malformations | 1 | Jun 15, 2017 |
| Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism | 1 | May 1, 2018 |
| Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | 5 | Jun 28, 2023 |
| Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities | 5 | Aug 10, 2021 |
| Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction | 7 | Sep 27, 2023 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Feb 9, 2018 |
| Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | 5 | Apr 25, 2022 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 5 | Dec 20, 2019 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 6 | Apr 19, 2022 |
| Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 6 | Apr 30, 2020 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 6 | Jun 27, 2022 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 5 | Feb 7, 2018 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 5 | May 23, 2019 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 3 | Jan 31, 2022 |
| Neurodevelopmental disorder with poor growth and behavioral abnormalities | 6 | Feb 13, 2023 |
| Neurodevelopmental disorder with poor growth and skeletal anomalies | 5 | May 20, 2022 |
| Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies | 2 | Jan 10, 2023 |
| Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | 1 | Oct 14, 2022 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 2 | Mar 15, 2018 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 5 | Aug 10, 2020 |
| Neurodevelopmental disorder with progressive movement abnormalities | 6 | Apr 17, 2024 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 14 | Dec 9, 2021 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 7 | Apr 10, 2019 |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 4 | May 1, 2020 |
| Neurodevelopmental disorder with seizures and brain abnormalities | 1 | Sep 2, 2021 |
| Neurodevelopmental disorder with seizures and brain atrophy | 4 | Nov 5, 2020 |
| Neurodevelopmental disorder with seizures and gingival overgrowth | 5 | May 19, 2021 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 4 | Jul 15, 2019 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 4 | Jun 24, 2019 |
| Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | 7 | Jul 17, 2020 |
| Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | 5 | Aug 31, 2022 |
| Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | 5 | Mar 17, 2023 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 7 | Feb 27, 2023 |
| Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | 3 | Jul 28, 2022 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 3 | Oct 6, 2022 |
| Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | 2 | Sep 20, 2021 |
| Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | 1 | Nov 16, 2021 |
| Neurodevelopmental disorder with spasticity and poor growth | 2 | Aug 6, 2018 |
| Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | 7 | Apr 23, 2021 |
| Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities | 3 | Aug 18, 2022 |
| Neurodevelopmental disorder with speech delay and variable ocular anomalies | 5 | Aug 10, 2022 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 3 | Sep 21, 2021 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 4 | Nov 8, 2022 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 8 | Nov 8, 2022 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 4 | Aug 22, 2019 |
| Neurodevelopmental disorder without autism with seizures | 2 | Mar 24, 2021 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 8 | Feb 18, 2022 |
| Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | 4 | Dec 17, 2021 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 3 | Jun 16, 2020 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 6 | Sep 14, 2021 |
| Neurofacioskeletal syndrome with or without renal agenesis | 3 | Feb 18, 2021 |
| Neuroferritinopathy | 5 | Oct 19, 2017 |
| Neurofibromatosis, familial spinal | 5 | Aug 4, 2016 |
| Neurofibromatosis, type 1 | 34 | Mar 20, 2017 |
| Neurofibromatosis, type 2 | 14 | Dec 14, 2017 |
| Neurofibromatosis-Noonan syndrome | 4 | Mar 4, 2020 |
| Neurofibrosarcoma | 1 | Aug 17, 2004 |
| Neurogastrointestinal syndrome, mitochondrial | 1 | Mar 21, 2012 |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 1 | Dec 17, 2012 |
| Neurohypophyseal diabetes insipidus | 18 | Jun 22, 2021 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 4 | Aug 25, 2021 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 5 | Feb 3, 2022 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 4 | Jul 14, 2020 |
| Neuromuscular disease, congenital, with uniform type 1 fiber | 2 | Sep 17, 2013 |
| Neuromuscular disorder, congenital, with dysmorphic facies | 5 | Apr 3, 2024 |
| Neuronal ceroid lipofuscinosis 1 | 9 | Dec 4, 2015 |
| Neuronal ceroid lipofuscinosis 10 | 5 | Feb 23, 2017 |
| Neuronal ceroid lipofuscinosis 11 | 1 | Feb 12, 2021 |
| Neuronal ceroid lipofuscinosis 13 | 6 | Jul 27, 2021 |
| Neuronal ceroid lipofuscinosis 2 | 10 | Jan 24, 2024 |
| Neuronal ceroid lipofuscinosis 3 | 4 | Mar 20, 2020 |
| Neuronal ceroid lipofuscinosis 5 | 10 | Oct 20, 2016 |
| Neuronal ceroid lipofuscinosis 7 | 11 | Jul 7, 2021 |
| Neuronal ceroid lipofuscinosis 8 | 6 | Aug 11, 2020 |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 | Aug 11, 2020 |
| Neuronal intranuclear inclusion disease | 1 | Feb 16, 2022 |
| Neuronopathy, distal hereditary motor, autosomal dominant 10 | 2 | Oct 18, 2022 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 4 | Sep 29, 2023 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 5 | Oct 18, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | 7 | Oct 24, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity | 4 | Jul 1, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 1 | May 15, 2015 |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 3 | Jul 6, 2016 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 5 | Mar 5, 2021 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 5 | Feb 8, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 9 | 8 | Jan 31, 2024 |
| Neuronopathy, distal hereditary motor, type 2A | 2 | Apr 8, 2020 |
| Neuronopathy, distal hereditary motor, type 2B | 7 | Oct 17, 2023 |
| Neuronopathy, distal hereditary motor, type 2C | 1 | Jun 8, 2017 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Feb 27, 2019 |
| Neuronopathy, distal hereditary motor, type 5A | 6 | Oct 16, 2023 |
| Neuronopathy, distal hereditary motor, type 5B | 1 | Oct 4, 2016 |
| Neuronopathy, distal hereditary motor, type 5C | 3 | Oct 16, 2023 |
| Neuronopathy, distal hereditary motor, type 7A | 1 | Oct 7, 2016 |
| Neuronopathy, distal hereditary motor, type 7B | 1 | Aug 8, 2014 |
| Neuronopathy, distal hereditary motor, type 9 | 3 | Aug 10, 2020 |
| Neuroocular syndrome 1 | 6 | Sep 25, 2021 |
| Neurooculocardiogenitourinary syndrome | 4 | Nov 5, 2019 |
| Neurooculorenal syndrome | 6 | Apr 5, 2023 |
| Neuropathy, axonal, with vocal cord paresis, autosomal recessive | 2 | Oct 18, 2016 |
| Neuropathy, congenital hypomyelinating, 2 | 4 | Nov 27, 2018 |
| Neuropathy, congenital hypomyelinating, 3 | 7 | Nov 28, 2018 |
| Neuropathy, hereditary motor and sensory, type 6B | 7 | Feb 14, 2023 |
| Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | 2 | Jul 19, 2019 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 4 | Nov 4, 2019 |
| Neuropathy, hereditary sensory and autonomic, type 1C | 5 | Nov 4, 2019 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 9 | Nov 26, 2019 |
| Neuropathy, hereditary sensory and autonomic, type 2B | 5 | Jul 8, 2015 |
| Neuropathy, hereditary sensory and autonomic, type IA, severe | 2 | Oct 23, 2019 |
| Neuropathy, hereditary sensory and autonomic, type IId | 1 | Nov 10, 2014 |
| Neuropathy, hereditary sensory, type 1D | 3 | Dec 16, 2013 |
| Neuropathy, hereditary sensory, type 1F | 2 | Jul 8, 2020 |
| Neuropathy, hereditary sensory, type 2C | 2 | Aug 29, 2017 |
| Neuropsychiatric disorder and early-onset cataract | 1 | Nov 12, 2012 |
| Neutral 1 amino acid transport defect | 6 | Jun 2, 2020 |
| Neutral lipid storage myopathy | 11 | Aug 13, 2015 |
| Neutropenia, severe congenital, 1, autosomal dominant | 6 | Jul 18, 2018 |
| Neutropenia, severe congenital, 10, autosomal recessive | 2 | Oct 4, 2023 |
| Neutropenia, severe congenital, 11, autosomal dominant | 1 | Jan 12, 2024 |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 | Feb 6, 2020 |
| Neutropenia, severe congenital, 8, autosomal dominant | 6 | Jan 31, 2020 |
| Neutropenia, severe congenital, 9, autosomal dominant | 4 | Apr 11, 2022 |
| Neutrophil immunodeficiency syndrome | 1 | Aug 24, 2020 |
| Neutrophil-specific antigens NA1/NA2 | 1 | Sep 7, 2018 |
| Nevus comedonicus syndrome | 3 | Dec 18, 2019 |
| Nevus sebaceous | 6 | Mar 9, 2022 |
| Newfoundland cone-rod dystrophy | 2 | Jul 16, 2009 |
| Nicolaides-Baraitser syndrome | 14 | May 4, 2021 |
| Nicotine addiction, protection against | 2 | Sep 10, 2018 |
| Nicotine dependence, protection against | 2 | Jul 9, 2018 |
| Nicotine, poor metabolism of | 2 | Sep 6, 2017 |
| Niemann-Pick disease, type A | 9 | Jun 24, 2021 |
| Niemann-Pick disease, type B | 7 | Jun 24, 2021 |
| Niemann-Pick disease, type C1 | 18 | Sep 19, 2016 |
| Niemann-Pick disease, type C1, adult form | 2 | Apr 6, 2015 |
| Niemann-Pick disease, type C1, juvenile form | 2 | Sep 19, 2016 |
| Niemann-Pick disease, type C2 | 10 | Aug 24, 2016 |
| Niemann-Pick disease, type D | 1 | Nov 10, 2011 |
| Niemann-pick disease, intermediate, protracted neurovisceral | 2 | Jun 24, 2021 |
| Night blindness, congenital stationary, type1i | 5 | Sep 3, 2019 |
| Nijmegen breakage syndrome-like disorder | 3 | Apr 19, 2021 |
| Nizon-Isidor syndrome | 3 | May 5, 2020 |
| Non-Hodgkin lymphoma | 9 | Dec 2, 2016 |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 9 | Aug 28, 2019 |
| Non-ketotic hyperglycinemia | 1 | Apr 27, 2018 |
| Non-small cell lung carcinoma | 4 | Oct 5, 2021 |
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | 1 | Mar 28, 2013 |
| Nongerminomatous germ cell tumor | 1 | Mar 17, 2022 |
| Nonimmune chronic idiopathic neutropenia of adults | 1 | Feb 6, 2020 |
| Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in | 1 | Jan 30, 2017 |
| Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic | 5 | Jan 23, 2018 |
| Nonsyndromic congenital nail disorder 1 | 5 | Mar 18, 2020 |
| Nonsyndromic congenital nail disorder 3 | 4 | Mar 26, 2012 |
| Nonsyndromic congenital nail disorder 8 | 4 | Oct 7, 2016 |
| Noonan syndrome 1 | 15 | Sep 6, 2019 |
| Noonan syndrome 10 | 3 | Nov 3, 2020 |
| Noonan syndrome 11 | 3 | Jul 11, 2019 |
| Noonan syndrome 12 | 3 | Apr 13, 2020 |
| Noonan syndrome 13 | 4 | Nov 9, 2020 |
| Noonan syndrome 14 | 3 | Feb 15, 2022 |
| Noonan syndrome 2 | 5 | Dec 17, 2018 |
| Noonan syndrome 3 | 6 | Jan 14, 2021 |
| Noonan syndrome 4 | 6 | Jul 7, 2020 |
| Noonan syndrome 5 | 4 | Oct 20, 2016 |
| Noonan syndrome 6 | 3 | Sep 26, 2017 |
| Noonan syndrome 7 | 4 | Jan 31, 2018 |
| Noonan syndrome 8 | 6 | Oct 5, 2016 |
| Noonan syndrome 9 | 2 | Aug 22, 2019 |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | 5 | Apr 28, 2017 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 3 | Jul 30, 2020 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 5 | May 31, 2017 |
| Normal pressure hydrocephalus | 1 | Jan 27, 2020 |
| Norman-Roberts syndrome | 3 | Aug 30, 2023 |
| Normokalemic periodic paralysis, potassium-sensitive | 3 | Sep 28, 2016 |
| Normophosphatemic familial tumoral calcinosis | 2 | Dec 11, 2020 |
| North Carolina macular dystrophy | 4 | Jan 22, 2021 |
| Nystagmus 1, congenital, X-linked | 12 | Jul 24, 2017 |
| Nystagmus 6, congenital, X-linked | 3 | Jul 13, 2018 |
| Nystagmus, congenital, autosomal recessive | 1 | Apr 5, 2023 |
| O'Donnell-Luria-Rodan syndrome | 8 | Apr 8, 2024 |
| OAS1 polymorphism | 2 | Jul 5, 2018 |
| OBESITY (BMIQ14), SUSCEPTIBILITY TO | 1 | Dec 21, 2017 |
| OBESITY (BMIQ17), SUSCEPTIBILITY TO | 1 | May 2, 2019 |
| OBESITY (BMIQ9), SUSCEPTIBILITY TO | 2 | Oct 13, 2016 |
| OBESITY, RESISTANCE TO | 1 | May 1, 2019 |
| OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | 3 | Jan 19, 2018 |
| OCULOECTODERMAL SYNDROME, SOMATIC | 4 | Mar 9, 2022 |
| ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES | 1 | Apr 13, 2021 |
| OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | 4 | Oct 19, 2022 |
| ORNITHINE TRANSCARBAMYLASE POLYMORPHISM | 1 | Jan 26, 2017 |
| OROFACIODIGITAL SYNDROME XXI | 2 | Oct 25, 2024 |
| OROSOMUCOID POLYMORPHISM | 3 | Oct 13, 2016 |
| OSTEOGENESIS IMPERFECTA, ATYPICAL, WITH JOINT HYPERMOBILITY | 1 | Apr 10, 2018 |
| OSTEOGENESIS IMPERFECTA, TYPE IIC | 1 | Sep 15, 2015 |
| OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS | 1 | Jun 22, 2020 |
| OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | 3 | Jan 3, 2018 |
| OVARIAN CANCER, EPITHELIAL, SOMATIC | 3 | Oct 5, 2021 |
| Obesity | 10 | Sep 2, 2020 |
| Obesity due to CEP19 deficiency | 1 | Mar 12, 2018 |
| Obesity due to congenital leptin deficiency | 2 | May 1, 2019 |
| Obesity due to leptin receptor gene deficiency | 2 | May 1, 2019 |
| Obesity due to pro-opiomelanocortin deficiency | 7 | Feb 22, 2018 |
| Obesity due to prohormone convertase I deficiency | 10 | Nov 8, 2022 |
| Obesity, age at onset of | 1 | Jun 3, 2019 |
| Obesity, association with | 2 | May 1, 2019 |
| Obesity, early-onset, susceptibility to | 1 | Aug 24, 2017 |
| Obesity, hyperphagia, and developmental delay | 3 | Jan 22, 2018 |
| Obesity, late-onset | 1 | Aug 30, 2019 |
| Obesity, mild, early-onset | 2 | May 2, 2019 |
| Obesity, severe, and type II diabetes | 3 | Sep 21, 2016 |
| Obsessive-compulsive disorder, susceptibility to | 2 | Mar 15, 2013 |
| Occipital pachygyria and polymicrogyria | 4 | Aug 17, 2015 |
| Occult macular dystrophy | 2 | Mar 26, 2020 |
| Ocular albinism, type I | 10 | Jul 13, 2018 |
| Ocular cystinosis | 5 | Dec 11, 2017 |
| Oculoauricular syndrome | 2 | Jun 10, 2015 |
| Oculocerebrodental syndrome | 3 | May 21, 2019 |
| Oculocerebrofacial syndrome, Kaufman type | 8 | Jun 3, 2022 |
| Oculocutaneous albinism type 1B | 5 | Feb 3, 2020 |
| Oculocutaneous albinism type 3 | 6 | Aug 19, 2015 |
| Oculocutaneous albinism type 4 | 7 | Feb 13, 2018 |
| Oculocutaneous albinism type 6 | 4 | Sep 27, 2017 |
| Oculocutaneous albinism type 7 | 2 | Aug 10, 2017 |
| Oculocutaneous albinism type 8 | 6 | Sep 17, 2021 |
| Oculodentodigital dysplasia | 14 | Oct 20, 2017 |
| Oculodentodigital dysplasia, autosomal recessive | 2 | Oct 20, 2017 |
| Oculofaciocardiodental syndrome | 12 | Apr 27, 2021 |
| Oculogastrointestinal-neurodevelopmental syndrome | 6 | May 7, 2021 |
| Oculomaxillofacial dysostosis | 1 | Sep 7, 2017 |
| Oculomotor-abducens synkinesis | 1 | Mar 4, 2021 |
| Oculootoradial syndrome | 1 | Jun 10, 2021 |
| Oculopharyngeal muscular dystrophy 1 | 3 | Nov 7, 2019 |
| Oculopharyngeal muscular dystrophy 2 | 4 | Aug 3, 2023 |
| Oculopharyngeal myopathy with leukoencephalopathy 1 | 1 | Nov 3, 2019 |
| Oculopharyngodistal myopathy 1 | 1 | Oct 24, 2019 |
| Oculopharyngodistal myopathy 2 | 1 | May 14, 2021 |
| Oculopharyngodistal myopathy 3 | 1 | Feb 16, 2022 |
| Oculopharyngodistal myopathy 4 | 1 | Mar 17, 2022 |
| Oculotrichoanal syndrome | 4 | Nov 21, 2017 |
| Odonto-onycho-dermal dysplasia | 10 | Jun 23, 2020 |
| Odontochondrodysplasia 1 | 9 | Aug 6, 2021 |
| Odontohypophosphatasia | 3 | Apr 12, 2012 |
| Ogden syndrome | 7 | Sep 8, 2022 |
| Oguchi disease | 5 | Apr 27, 2017 |
| Oguchi disease-2 | 4 | Feb 5, 2015 |
| Okt4 epitope deficiency | 1 | Mar 26, 2021 |
| Okur-Chung neurodevelopmental syndrome | 7 | Feb 20, 2019 |
| Oligodontia-cancer predisposition syndrome | 2 | Mar 3, 2015 |
| Oligosynaptic infertility | 3 | Feb 28, 2020 |
| Olmsted syndrome 1 | 4 | Feb 25, 2021 |
| Olmsted syndrome 2 | 4 | Feb 25, 2021 |
| Olmsted syndrome, X-linked | 1 | Feb 25, 2021 |
| Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | 1 | Jun 7, 2021 |
| Oocyte maturation defect 10 | 2 | Feb 5, 2021 |
| Oocyte maturation defect 11 | 1 | Jan 18, 2022 |
| Oocyte maturation defect 12 | 3 | Jan 6, 2022 |
| Oocyte maturation defect 13 | 2 | Dec 8, 2022 |
| Oocyte maturation defect 14 | 10 | Mar 10, 2023 |
| Oocyte maturation defect 2 | 7 | Mar 2, 2017 |
| Oocyte maturation defect 3 | 2 | Aug 20, 2019 |
| Oocyte maturation defect 4 | 9 | Apr 17, 2023 |
| Oocyte maturation defect 5 | 6 | Aug 29, 2020 |
| Oocyte maturation defect 6 | 3 | Aug 21, 2019 |
| Oocyte maturation defect 7 | 4 | Sep 16, 2019 |
| Oocyte maturation defect 8 | 5 | Dec 7, 2022 |
| Oocyte maturation defect 9 | 5 | Sep 8, 2020 |
| Oocyte/zygote/embryo maturation arrest 17 | 5 | Apr 10, 2023 |
| Oocyte/zygote/embryo maturation arrest 18 | 3 | Apr 17, 2023 |
| Oocyte/zygote/embryo maturation arrest 19 | 7 | Apr 17, 2023 |
| Oocyte/zygote/embryo maturation arrest 20 | 10 | May 17, 2023 |
| Oocyte/zygote/embryo maturation arrest 21 | 4 | Nov 21, 2023 |
| Ophthalmoplegia, external, with rib and vertebral anomalies | 2 | Oct 26, 2018 |
| Ophthalmoplegia, isolated | 2 | Dec 13, 2018 |
| Opioid dependence, susceptibility to, 1 | 1 | Jan 26, 2021 |
| Opsismodysplasia | 9 | Mar 13, 2019 |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 6 | May 5, 2022 |
| Optic atrophy 11 | 1 | Feb 16, 2021 |
| Optic atrophy 12 | 5 | Aug 14, 2020 |
| Optic atrophy 13 with retinal and foveal abnormalities | 4 | Sep 3, 2020 |
| Optic atrophy 14 | 2 | Oct 24, 2023 |
| Optic atrophy 15 | 3 | Nov 13, 2023 |
| Optic atrophy 16 | 1 | Dec 11, 2023 |
| Optic atrophy 3 | 2 | Jun 16, 2020 |
| Optic atrophy 5 | 2 | Nov 8, 2017 |
| Optic atrophy 9 | 2 | Oct 19, 2022 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 8 | Oct 15, 2021 |
| Optic nerve aplasia, bilateral | 1 | Sep 26, 2016 |
| Optic nerve hypoplasia and abnormalities of the central nervous system | 2 | Nov 21, 2012 |
| Ornithine aminotransferase deficiency | 36 | Feb 1, 2018 |
| Ornithine carbamoyltransferase deficiency | 27 | Jan 26, 2017 |
| Ornithine decarboxylase 1 polymorphism | 1 | Oct 13, 2020 |
| Orofacial cleft 10 | 1 | Oct 12, 2018 |
| Orofacial cleft 11 | 4 | Aug 4, 2016 |
| Orofacial cleft 15 | 1 | Feb 4, 2016 |
| Orofacial cleft 5 | 3 | Dec 7, 2017 |
| Orofacial cleft 7 | 1 | May 23, 2016 |
| Orofacial cleft 8 | 2 | Apr 30, 2020 |
| Orofacial-digital syndrome IV | 5 | May 8, 2015 |
| Orofaciodigital syndrome 16 | 2 | Jul 14, 2017 |
| Orofaciodigital syndrome 17 | 1 | Mar 30, 2018 |
| Orofaciodigital syndrome 18 | 1 | Aug 9, 2019 |
| Orofaciodigital syndrome 19 | 3 | Oct 27, 2022 |
| Orofaciodigital syndrome 20 | 5 | Feb 14, 2024 |
| Orofaciodigital syndrome I | 6 | Apr 2, 2018 |
| Orofaciodigital syndrome V | 4 | Feb 2, 2022 |
| Orofaciodigital syndrome XV | 2 | Sep 22, 2016 |
| Orofaciodigital syndrome type 14 | 5 | Apr 5, 2019 |
| Orofaciodigital syndrome type 6 | 5 | Apr 19, 2018 |
| Oroticaciduria | 2 | May 5, 2015 |
| Orthostatic hypotension 1 | 3 | Nov 14, 2018 |
| Orthostatic hypotension 2 | 2 | Nov 14, 2018 |
| Osteoarthritis susceptibility 1 | 2 | Feb 14, 2013 |
| Osteoarthritis susceptibility 2 | 1 | Oct 18, 2016 |
| Osteoarthritis susceptibility 3 | 1 | Nov 13, 2008 |
| Osteoarthritis susceptibility 5 | 1 | Apr 3, 2020 |
| Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | 1 | Jan 10, 2019 |
| Osteocraniostenosis | 4 | Jun 2, 2017 |
| Osteodysplastic primordial dwarfism, type 1 | 9 | Sep 11, 2020 |
| Osteofibrous dysplasia | 2 | Aug 23, 2016 |
| Osteogenesis imperfecta | 2 | Dec 27, 2017 |
| Osteogenesis imperfecta type 1, mild | 2 | Oct 13, 2016 |
| Osteogenesis imperfecta type 10 | 2 | Oct 12, 2016 |
| Osteogenesis imperfecta type 12 | 8 | Aug 31, 2018 |
| Osteogenesis imperfecta type 13 | 6 | Sep 13, 2016 |
| Osteogenesis imperfecta type 14 | 1 | Sep 3, 2019 |
| Osteogenesis imperfecta type 15 | 6 | Jan 3, 2018 |
| Osteogenesis imperfecta type 16 | 3 | Oct 28, 2020 |
| Osteogenesis imperfecta type 17 | 2 | Jul 19, 2019 |
| Osteogenesis imperfecta type 2, thin-bone | 1 | Oct 13, 2016 |
| Osteogenesis imperfecta type 5 | 3 | Feb 11, 2022 |
| Osteogenesis imperfecta type 6 | 6 | Mar 18, 2015 |
| Osteogenesis imperfecta type 7 | 9 | Mar 30, 2017 |
| Osteogenesis imperfecta type 8 | 7 | Jul 1, 2016 |
| Osteogenesis imperfecta type 9 | 6 | May 1, 2017 |
| Osteogenesis imperfecta type I | 7 | Oct 13, 2016 |
| Osteogenesis imperfecta type III | 20 | Jun 26, 2018 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 13 | Apr 11, 2018 |
| Osteogenesis imperfecta, IIA 22 | 1 | Mar 15, 2022 |
| Osteogenesis imperfecta, mild | 1 | Jun 23, 2011 |
| Osteogenesis imperfecta, perinatal lethal | 46 | Dec 10, 2020 |
| Osteogenesis imperfecta, type 18 | 3 | May 1, 2018 |
| Osteogenesis imperfecta, type 19 | 2 | Jul 31, 2018 |
| Osteogenesis imperfecta, type 20 | 5 | Jan 31, 2023 |
| Osteogenesis imperfecta, type 21 | 6 | May 24, 2021 |
| Osteogenesis imperfecta, type 23 | 2 | Nov 29, 2023 |
| Osteogenesis imperfecta, type III/IV | 1 | Sep 27, 2013 |
| Osteoglophonic dysplasia | 3 | Aug 11, 2016 |
| Osteootohepatoenteric syndrome | 12 | Mar 11, 2024 |
| Osteopathia striata with cranial sclerosis | 8 | Mar 11, 2021 |
| Osteopetrosis with renal tubular acidosis | 5 | Apr 8, 2021 |
| Osteopetrosis, autosomal dominant 3 | 2 | Sep 4, 2018 |
| Osteopetrosis, autosomal recessive 9 | 2 | May 3, 2023 |
| Osteopoikilosis | 3 | Jun 22, 2020 |
| Osteoporosis with pseudoglioma | 19 | May 11, 2021 |
| Osteoporosis, childhood- or juvenile-onset, with developmental delay | 4 | May 24, 2022 |
| Osteosclerotic metaphyseal dysplasia | 4 | Dec 14, 2021 |
| Otitis media, susceptibility to | 1 | Jul 6, 2018 |
| Oto-palato-digital syndrome, type I | 3 | Nov 7, 2018 |
| Oto-palato-digital syndrome, type II | 3 | Nov 7, 2018 |
| Otofacial neurodevelopmental syndrome | 4 | Aug 6, 2024 |
| Otofaciocervical syndrome 1 | 1 | Sep 19, 2019 |
| Otofaciocervical syndrome 2 | 5 | Jun 15, 2021 |
| Otopalatodigital syndrome spectrum disorder | 2 | May 2, 2013 |
| Otosclerosis 11 | 1 | Nov 8, 2023 |
| Otosclerosis 12 | 1 | Apr 18, 2024 |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 4 | Jul 18, 2017 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 4 | Jul 18, 2017 |
| Ovarian dysgenesis 1 | 6 | May 13, 2019 |
| Ovarian dysgenesis 10 | 1 | Apr 11, 2022 |
| Ovarian dysgenesis 11 | 3 | Jul 23, 2024 |
| Ovarian dysgenesis 2 | 1 | Apr 11, 2022 |
| Ovarian dysgenesis 3 | 1 | Nov 2, 2011 |
| Ovarian dysgenesis 5 | 2 | Sep 25, 2017 |
| Ovarian dysgenesis 6 | 2 | Jul 23, 2024 |
| Ovarian dysgenesis 7 | 2 | Sep 18, 2018 |
| Ovarian dysgenesis 8 | 1 | Nov 16, 2018 |
| Ovarian dysgenesis 9 | 2 | Feb 16, 2022 |
| Ovarian granulosa cell tumor | 2 | Apr 21, 2011 |
| Ovarian hyperstimulation syndrome | 6 | May 13, 2019 |
| Ovarian neoplasm | 7 | Apr 13, 2020 |
| Ovarian response to FSH stimulation | 1 | May 11, 2015 |
| Overhydrated hereditary stomatocytosis | 2 | Aug 10, 2021 |
| Oxoglutaricaciduria | 4 | Jan 30, 2023 |
| Oxyphilic adenoma | 1 | Sep 15, 2011 |
| PANCREATIC AGENESIS 3 | 7 | Oct 23, 2024 |
| PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO | 1 | Apr 9, 2018 |
| PARAOXONASE 2 POLYMORPHISM | 2 | Jan 12, 2021 |
| PAX8 POLYMORPHISM | 1 | Sep 6, 2019 |
| PCWH syndrome | 6 | Sep 21, 2016 |
| PEHO syndrome | 1 | Jun 1, 2017 |
| PEHO-like syndrome | 5 | Nov 12, 2024 |
| PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM | 1 | Dec 30, 2010 |
| PEPTIDE TRANSPORTER PSF1 POLYMORPHISM | 2 | May 25, 2012 |
| PEPTIDE TRANSPORTER PSF2 POLYMORPHISM | 3 | Aug 27, 2012 |
| PERCHING syndrome | 8 | Jan 9, 2020 |
| PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA POLYMORPHISM | 1 | Apr 19, 2019 |
| PEX6 POLYMORPHISM | 1 | Dec 18, 2019 |
| PGM1-congenital disorder of glycosylation | 13 | Apr 21, 2021 |
| PHARC syndrome | 7 | Oct 3, 2018 |
| PHGDH deficiency | 10 | Apr 8, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 7 | Dec 2, 2019 |
| PI B(ALHAMBRA) | 1 | Jul 15, 2016 |
| PI CHRISTCHURCH | 1 | Jul 15, 2016 |
| PI F | 1 | Jul 15, 2016 |
| PI I | 1 | Jul 15, 2016 |
| PI KALSHEKER-POLLER | 1 | Jul 20, 2016 |
| PI M(HEERLEN) | 1 | Jul 20, 2016 |
| PI M(MALTON) | 1 | Jul 15, 2016 |
| PI M(MINERAL SPRINGS) | 1 | Jul 15, 2016 |
| PI M(NICHINAN) | 1 | Jul 15, 2016 |
| PI M(PROCIDA) | 1 | Jul 15, 2016 |
| PI M1-ALA213 | 2 | Jul 15, 2016 |
| PI M2 | 1 | Jul 15, 2016 |
| PI M3 | 1 | Jul 15, 2016 |
| PI M4 | 1 | Jul 15, 2016 |
| PI NULL(BELLINGHAM) | 1 | Jul 15, 2016 |
| PI NULL(BOLTON) | 1 | Jul 20, 2016 |
| PI NULL(CARDIFF) | 1 | Jul 15, 2016 |
| PI NULL(DEVON) | 1 | Jul 15, 2016 |
| PI NULL(HONG KONG 1) | 1 | Jul 20, 2016 |
| PI NULL(HONG KONG 2) | 1 | Jul 20, 2016 |
| PI NULL(LUDWIGSHAFEN) | 1 | Jul 20, 2016 |
| PI NULL(MATTAWA) | 1 | Jul 15, 2016 |
| PI NULL(NEWPORT) | 1 | Jul 15, 2016 |
| PI NULL(PROCIDA) | 1 | Jul 15, 2016 |
| PI NULL(RIEDENBURG) | 1 | Jul 15, 2016 |
| PI NULL(WEST) | 1 | Jul 15, 2016 |
| PI P(DUARTE) | 1 | Jul 15, 2016 |
| PI P(LOWELL) | 1 | Jul 15, 2016 |
| PI P(ST. ALBANS) | 1 | Jul 15, 2016 |
| PI Q0(BELLINGHAM) | 1 | Jul 15, 2016 |
| PI Q0(BOLTON) | 1 | Jul 20, 2016 |
| PI Q0(CARDIFF) | 1 | Jul 15, 2016 |
| PI Q0(DEVON) | 1 | Jul 15, 2016 |
| PI Q0(GRANITE FALLS) | 1 | Jul 15, 2016 |
| PI Q0(HONG KONG 1) | 1 | Jul 20, 2016 |
| PI Q0(LUDWIGSHAFEN) | 1 | Jul 20, 2016 |
| PI Q0(NEWPORT) | 1 | Jul 15, 2016 |
| PI S | 1 | Jul 15, 2016 |
| PI S(IIYAMA) | 1 | Jul 15, 2016 |
| PI V(MUNICH) | 1 | Jul 15, 2016 |
| PI W(BETHESDA) | 1 | Jul 15, 2016 |
| PI X | 1 | Jul 15, 2016 |
| PI Z | 1 | Jul 15, 2016 |
| PI Z(AUGSBURG) | 1 | Jul 15, 2016 |
| PI Z(BRISTOL) | 1 | Jul 15, 2016 |
| PI Z(TUN) | 1 | Jul 15, 2016 |
| PI Z(WREXHAM) | 1 | Jul 15, 2016 |
| PI, M1A | 1 | Jul 15, 2016 |
| PI, M1V | 1 | Jul 15, 2016 |
| PITUITARY HORMONE DEFICIENCY, COMBINED, 5 | 4 | Mar 4, 2021 |
| PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC | 1 | Sep 26, 2017 |
| PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM | 1 | Dec 30, 2010 |
| PLATELET GLYCOPROTEIN Ib POLYMORPHISM | 1 | Mar 28, 2013 |
| PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM | 1 | Sep 19, 2012 |
| PLIN1-related familial partial lipodystrophy | 4 | Feb 21, 2022 |
| PMM2-congenital disorder of glycosylation | 22 | Jul 9, 2020 |
| POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE | 5 | Feb 22, 2018 |
| POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE | 1 | Feb 22, 2018 |
| POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS | 1 | Feb 21, 2018 |
| POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO | 1 | Sep 3, 2020 |
| POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME | 1 | Mar 7, 2019 |
| PPARG-related familial partial lipodystrophy | 6 | Sep 5, 2020 |
| PPARGC1B polymorphism | 1 | May 2, 2019 |
| PRB3M(NULL) | 1 | Oct 31, 2007 |
| PRB3S(CYS) | 1 | Oct 31, 2007 |
| PREMATURE OVARIAN FAILURE 25 | 3 | Nov 1, 2024 |
| PRIMARY OVARIAN FAILURE 8 | 2 | Dec 23, 2021 |
| PRION DISEASE, SUSCEPTIBILITY TO | 1 | Aug 6, 2019 |
| PROALBUMIN JAFFNA | 1 | Jul 18, 2019 |
| PROALBUMIN LILLE | 1 | Jul 18, 2019 |
| PROALBUMIN MALMO | 1 | Jul 18, 2019 |
| PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC | 3 | Jul 18, 2018 |
| PROTHROMBIN TYPE 3 | 1 | Jun 20, 2012 |
| PSAT deficiency | 7 | Apr 8, 2024 |
| PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | 1 | Aug 5, 2016 |
| PTCRA POLYMORPHISM | 1 | Sep 4, 2024 |
| PTPRC POLYMORPHISM | 1 | Oct 5, 2015 |
| PULMONARY ALVEOLAR MICROLITHIASIS | 4 | Oct 14, 2019 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 10 | Aug 17, 2021 |
| PYCR1-related de Barsy syndrome | 4 | Dec 16, 2016 |
| Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 5 | Nov 2, 2023 |
| Pachyonychia congenita 1 | 11 | Feb 22, 2022 |
| Pachyonychia congenita 2 | 13 | Oct 10, 2016 |
| Pachyonychia congenita 3 | 10 | Mar 19, 2020 |
| Pachyonychia congenita 4 | 3 | Mar 6, 2020 |
| Paganini-Miozzo syndrome | 1 | Jun 18, 2019 |
| Paget disease of bone 2, early-onset | 2 | Aug 12, 2015 |
| Paget disease of bone 3 | 4 | May 18, 2017 |
| Paget disease of bone 6 | 2 | Feb 26, 2016 |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 3 | Aug 19, 2016 |
| Pallister-Hall syndrome | 5 | May 3, 2018 |
| Palmoplantar hyperkeratosis and true hermaphroditism | 1 | Sep 21, 2012 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 8 | Jul 6, 2021 |
| Palmoplantar keratoderma, Bothnian type | 5 | Feb 4, 2021 |
| Palmoplantar keratoderma, Nagashima type | 4 | Aug 3, 2015 |
| Palmoplantar keratoderma, epidermolytic, 2 | 3 | Feb 2, 2024 |
| Palmoplantar keratoderma, nonepidermolytic, focal 1 | 3 | Feb 22, 2022 |
| Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | 1 | Jul 7, 2014 |
| Palmoplantar keratoderma, punctate type 1A | 6 | Nov 25, 2019 |
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | 2 | Sep 19, 2019 |
| Palmoplantar keratoderma-deafness syndrome | 4 | Jun 4, 2022 |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | 2 | Dec 23, 2019 |
| Pancreatic agenesis 1 | 4 | Dec 2, 2016 |
| Pancreatic cancer, susceptibility to | 1 | Aug 17, 2018 |
| Pancreatic cancer, susceptibility to, 1 | 1 | Sep 10, 2008 |
| Pancreatic cancer, susceptibility to, 2 | 1 | Sep 12, 2016 |
| Pancreatic cancer, susceptibility to, 3 | 4 | Apr 19, 2019 |
| Pancreatic cancer, susceptibility to, 4 | 1 | Aug 17, 2018 |
| Pancreatic cancer, susceptibility to, 5 | 1 | Nov 26, 2019 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 9 | Sep 17, 2014 |
| Pancreatic insufficiency-anemia-hyperostosis syndrome | 1 | Apr 8, 2009 |
| Pancreatic triacylglycerol lipase deficiency | 1 | May 25, 2017 |
| Pancreatitis, chronic, protection against | 1 | Dec 22, 2011 |
| Pancreatitis, chronic, susceptibility to | 4 | Dec 2, 2016 |
| Pancytopenia due to IKZF1 mutations | 6 | Aug 25, 2016 |
| Pancytopenia-developmental delay syndrome | 2 | Mar 7, 2018 |
| Panhypopituitarism, X-linked | 2 | Nov 8, 2019 |
| Papillary renal cell carcinoma type 1 | 9 | Sep 16, 2016 |
| Papillary thyroid carcinoma | 1 | Mar 17, 2022 |
| Papillon-Lefèvre syndrome | 12 | May 6, 2021 |
| Papillorenal syndrome with macular abnormalities | 1 | Jan 8, 2013 |
| Para-Bombay phenotype | 3 | Feb 9, 2016 |
| Paragangliomas 1 | 23 | Jul 24, 2019 |
| Paragangliomas 2 | 1 | Apr 11, 2012 |
| Paragangliomas 3 | 3 | Feb 21, 2017 |
| Paragangliomas 4 | 16 | Oct 17, 2023 |
| Paragangliomas 5 | 4 | Sep 7, 2016 |
| Paragangliomas 6 | 5 | Jun 21, 2019 |
| Paragangliomas 7 | 1 | Jun 24, 2019 |
| Paramyotonia congenita of Von Eulenburg | 12 | May 9, 2023 |
| Paramyotonia congenita/hyperkalemic periodic paralysis | 4 | Sep 1, 2020 |
| Paramyotonia congenita/myotonia congenita | 1 | Feb 10, 2015 |
| Parastremmatic dwarfism | 1 | Sep 7, 2021 |
| Parathyroid adenoma, somatic | 2 | Jul 24, 2018 |
| Parathyroid carcinoma | 7 | Jul 24, 2018 |
| Parathyroid gland adenoma | 1 | Nov 28, 2012 |
| Parenti-mignot neurodevelopmental syndrome | 5 | May 7, 2022 |
| Parietal foramina 1 | 6 | Aug 19, 2019 |
| Parietal foramina 2 | 9 | Jan 2, 2018 |
| Parietal foramina with cleidocranial dysplasia | 1 | May 23, 2016 |
| Parkinson disease 11, autosomal dominant, susceptibility to | 5 | Jun 1, 2017 |
| Parkinson disease 13, autosomal dominant, susceptibility to | 3 | Dec 17, 2016 |
| Parkinson disease 17 | 1 | Sep 14, 2017 |
| Parkinson disease 18, autosomal dominant, susceptibility to | 2 | Apr 21, 2015 |
| Parkinson disease 19B, early-onset | 2 | Aug 9, 2016 |
| Parkinson disease 21 | 1 | Oct 24, 2016 |
| Parkinson disease 22, autosomal dominant | 3 | Feb 12, 2021 |
| Parkinson disease 24, autosomal dominant, susceptibility to | 3 | Aug 26, 2021 |
| Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | 2 | Aug 22, 2023 |
| Parkinson disease 5, autosomal dominant, susceptibility to | 2 | Mar 26, 2020 |
| Parkinson disease 6 | 1 | Mar 14, 2018 |
| Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 | 2 | Mar 15, 2018 |
| Parkinson disease, late-onset | 15 | Jun 18, 2022 |
| Parkinson disease, mitochondrial | 5 | Oct 20, 2017 |
| Parkinson disease, resistance to | 1 | Jul 6, 2012 |
| Parkinsonian-pyramidal syndrome | 4 | Feb 10, 2015 |
| Parkinsonism with polyneuropathy | 3 | Aug 10, 2021 |
| Parkinsonism-dystonia 3, childhood-onset | 6 | Feb 18, 2022 |
| Parkinsonism/MELAS overlap syndrome | 1 | Mar 18, 2022 |
| Paroxysmal extreme pain disorder | 7 | Sep 26, 2016 |
| Paroxysmal nocturnal hemoglobinuria | 10 | Jan 10, 2018 |
| Paroxysmal nocturnal hemoglobinuria 2 | 1 | Mar 12, 2019 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 3 | Feb 28, 2020 |
| Partial adenosine deaminase deficiency | 8 | Nov 15, 2012 |
| Partial androgen insensitivity syndrome | 16 | Nov 1, 2019 |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 16 | Sep 10, 2020 |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 3 | Mar 27, 2019 |
| Partington syndrome | 1 | Aug 23, 2021 |
| Patent ductus arteriosus 2 | 3 | Oct 17, 2016 |
| Patent ductus arteriosus 3 | 3 | Jul 20, 2016 |
| Patterned macular dystrophy 1 | 7 | Aug 22, 2019 |
| Patterned macular dystrophy 2 | 3 | Apr 8, 2016 |
| Patterned macular dystrophy 3 | 1 | Sep 8, 2016 |
| Pediatric hepatocellular carcinoma | 3 | Aug 23, 2016 |
| Peeling skin syndrome 1 | 4 | Feb 28, 2017 |
| Peeling skin syndrome 4 | 4 | Sep 2, 2015 |
| Peeling skin syndrome 5 | 3 | Sep 13, 2016 |
| Peeling skin syndrome 6 | 2 | Aug 13, 2018 |
| Peeling skin syndrome type A | 1 | Mar 17, 2015 |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | 3 | Aug 10, 2018 |
| Pelger-Huet-like anomaly and episodic fever with abdominal pain | 1 | Sep 15, 2022 |
| Pelger-Huët anomaly | 7 | Mar 17, 2022 |
| Pelizaeus-Merzbacher disease | 16 | Oct 20, 2020 |
| Pelizaeus-Merzbacher disease, atypical | 2 | Dec 2, 2016 |
| Pelizaeus-Merzbacher disease, connatal | 2 | Mar 21, 2013 |
| Pelizaeus-Merzbacher disease, mild | 2 | Dec 2, 2016 |
| Pelviscapular dysplasia | 2 | Mar 26, 2020 |
| Pendred syndrome | 20 | Sep 21, 2018 |
| Periampullary adenoma | 2 | Apr 4, 2013 |
| Perinatal lethal hypophosphatasia | 2 | Apr 14, 2015 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 2 | Sep 16, 2016 |
| Periodontitis, aggressive 1 | 3 | May 6, 2021 |
| Peripheral motor neuropathy, childhood-onset, biotin-responsive | 3 | Jun 2, 2022 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 11 | Apr 21, 2022 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 | Oct 11, 2016 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 3 | Dec 2, 2016 |
| Periventricular nodular heterotopia 6 | 1 | Dec 9, 2013 |
| Periventricular nodular heterotopia 7 | 5 | Aug 23, 2023 |
| Periventricular nodular heterotopia 8 | 3 | Nov 13, 2018 |
| Periventricular nodular heterotopia 9 | 7 | Jul 1, 2020 |
| Perlman syndrome | 4 | May 18, 2015 |
| Permanent neonatal diabetes mellitus 1 | 2 | Dec 1, 2020 |
| Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | 3 | Jun 14, 2018 |
| Peroxisomal biogenesis disorder 3b | 6 | Jan 31, 2017 |
| Peroxisome biogenesis disorder | 2 | Oct 27, 2015 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 2 | Feb 14, 2017 |
| Peroxisome biogenesis disorder 10B | 2 | Jul 20, 2017 |
| Peroxisome biogenesis disorder 11A (Zellweger) | 3 | Jan 25, 2017 |
| Peroxisome biogenesis disorder 11B | 2 | Aug 13, 2018 |
| Peroxisome biogenesis disorder 12A (Zellweger) | 2 | Oct 25, 2012 |
| Peroxisome biogenesis disorder 13A (Zellweger) | 2 | Sep 10, 2019 |
| Peroxisome biogenesis disorder 14B | 2 | Nov 11, 2020 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 5 | Oct 27, 2015 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 1 | Aug 21, 2018 |
| Peroxisome biogenesis disorder 2B | 1 | Aug 21, 2018 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 7 | Nov 18, 2019 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 6 | Sep 19, 2016 |
| Peroxisome biogenesis disorder 4B | 4 | Sep 20, 2021 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 3 | Sep 9, 2021 |
| Peroxisome biogenesis disorder 5B | 4 | Sep 9, 2021 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 5 | Aug 13, 2018 |
| Peroxisome biogenesis disorder 6B | 8 | Aug 13, 2018 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 6 | Feb 7, 2017 |
| Peroxisome biogenesis disorder 7B | 4 | Feb 6, 2017 |
| Peroxisome biogenesis disorder 8A (Zellweger) | 2 | Sep 10, 2019 |
| Peroxisome biogenesis disorder 8B | 3 | Sep 10, 2019 |
| Peroxisome biogenesis disorder 9B | 7 | Oct 17, 2016 |
| Perrault syndrome 1 | 6 | Jul 21, 2015 |
| Perrault syndrome 2 | 4 | Oct 26, 2020 |
| Perrault syndrome 3 | 4 | Jun 13, 2018 |
| Perrault syndrome 4 | 10 | Jan 15, 2021 |
| Perrault syndrome 5 | 4 | Mar 27, 2017 |
| Perrault syndrome 6 | 1 | Jul 10, 2017 |
| Perry syndrome | 3 | Apr 16, 2018 |
| Persistent hyperplastic primary vitreous, autosomal recessive | 4 | Apr 18, 2016 |
| Persistent mullerian duct syndrome, type I | 4 | Nov 12, 2013 |
| Persistent mullerian duct syndrome, type II | 4 | Jul 16, 2010 |
| Persistent truncus arteriosus | 4 | Sep 13, 2016 |
| Peters plus syndrome | 5 | Jul 6, 2021 |
| Pettigrew syndrome | 6 | Apr 10, 2015 |
| Peutz-Jeghers syndrome | 16 | May 24, 2022 |
| Pfeiffer syndrome | 13 | Jun 11, 2019 |
| Pfeiffer syndrome type 3 | 1 | Aug 9, 2018 |
| Pfeiffer syndrome variant | 1 | Sep 6, 2016 |
| Phelan-McDermid syndrome | 4 | Jan 7, 2020 |
| Phenylketonuria | 49 | Sep 9, 2021 |
| Phenylthiocarbamide tasting | 3 | May 12, 2011 |
| Phenytoin response | 1 | Jun 15, 2012 |
| Pheochromocytoma | 14 | Mar 5, 2020 |
| Pheochromocytoma, susceptibility to | 9 | Jan 16, 2020 |
| Phosphate transport defect | 5 | Nov 4, 2020 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 3 | Sep 11, 2020 |
| Phosphoglycerate kinase electrophoretic variant PGK II | 1 | Apr 12, 2012 |
| Phosphohydroxylysinuria | 2 | May 19, 2015 |
| Phosphoribosylaminoimidazole carboxylase deficiency | 1 | Apr 28, 2022 |
| Phosphoribosylpyrophosphate synthetase superactivity | 6 | Feb 21, 2017 |
| Pick disease | 5 | Feb 14, 2018 |
| Piebaldism | 11 | Jun 1, 2022 |
| Piebaldism with sensorineural deafness | 1 | Jul 12, 2018 |
| Piebaldism, progressive | 1 | Jul 12, 2018 |
| Pierpont syndrome | 3 | May 13, 2019 |
| Pierson syndrome | 5 | Aug 10, 2021 |
| Pigmentary pallidal degeneration | 16 | Mar 13, 2024 |
| Pigmentary retinal dystrophy | 1 | Jul 16, 2009 |
| Pigmentary retinopathy and sensorineural deafness | 1 | Nov 19, 2014 |
| Pigmented nodular adrenocortical disease, primary, 1 | 3 | Apr 29, 2019 |
| Pigmented nodular adrenocortical disease, primary, 2 | 2 | Dec 1, 2016 |
| Pigmented nodular adrenocortical disease, primary, 3 | 1 | Aug 25, 2011 |
| Pigmented paravenous retinochoroidal atrophy | 1 | Apr 7, 2015 |
| Pilarowski-Bjornsson syndrome | 4 | Jun 24, 2019 |
| Pili torti-deafness syndrome | 2 | Jan 17, 2017 |
| Pili torti-developmental delay-neurological abnormalities syndrome | 2 | Jun 25, 2019 |
| Pilocytic astrocytoma | 1 | Sep 2, 2016 |
| Pilomatrixoma | 8 | Sep 7, 2016 |
| Pitt-Hopkins syndrome | 6 | Dec 21, 2018 |
| Pitt-Hopkins-like syndrome 2 | 4 | Dec 14, 2017 |
| Pituitary adenoma 3, multiple types | 4 | Sep 26, 2017 |
| Pituitary adenoma 5, multiple types | 4 | Sep 27, 2017 |
| Pituitary adenoma predisposition | 2 | Sep 26, 2017 |
| Pituitary adenoma, growth hormone-secreting, 2 | 2 | Sep 26, 2017 |
| Pituitary dependent hypercortisolism | 4 | Sep 26, 2017 |
| Pituitary hormone deficiency, combined or isolated, 8 | 2 | Apr 5, 2023 |
| Pituitary hormone deficiency, combined, 1 | 21 | Sep 22, 2021 |
| Pituitary hormone deficiency, combined, 2 | 12 | Jan 28, 2020 |
| Pituitary hormone deficiency, combined, 6 | 1 | May 7, 2015 |
| Pityriasis rubra pilaris | 3 | Apr 6, 2017 |
| Plasma triglyceride level quantitative trait locus | 2 | Oct 18, 2016 |
| Plasminogen deficiency, type I | 6 | May 30, 2019 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 9 | Aug 4, 2020 |
| Platelet-activating factor acetylhydrolase deficiency | 2 | Jan 24, 2018 |
| Platelet-type bleeding disorder 10 | 7 | Aug 31, 2016 |
| Platelet-type bleeding disorder 11 | 4 | Jun 24, 2015 |
| Platelet-type bleeding disorder 15 | 6 | Apr 24, 2013 |
| Platelet-type bleeding disorder 16 | 2 | Apr 13, 2021 |
| Platelet-type bleeding disorder 17 | 4 | Dec 27, 2019 |
| Platelet-type bleeding disorder 18 | 1 | Jul 14, 2014 |
| Platelet-type bleeding disorder 19 | 1 | Feb 2, 2018 |
| Platelet-type bleeding disorder 20 | 4 | Apr 22, 2016 |
| Platelet-type bleeding disorder 8 | 4 | Jun 14, 2017 |
| Platyspondylic dysplasia, Torrance type | 2 | Mar 2, 2017 |
| Pleuropulmonary blastoma | 6 | Nov 14, 2017 |
| Poikiloderma with neutropenia | 11 | Dec 20, 2021 |
| Poirier-Bienvenu neurodevelopmental syndrome | 7 | Jan 4, 2022 |
| Polyagglutinable erythrocyte syndrome | 5 | Feb 5, 2013 |
| Polycystic kidney disease 2 | 11 | Nov 20, 2018 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 1 | Feb 22, 2018 |
| Polycystic kidney disease 5 | 4 | Aug 7, 2017 |
| Polycystic kidney disease 6 with or without polycystic liver disease | 5 | Jul 27, 2018 |
| Polycystic kidney disease 7 | 4 | Oct 4, 2022 |
| Polycystic kidney disease 8 | 2 | Jul 30, 2024 |
| Polycystic kidney disease, adult type | 16 | Aug 7, 2017 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 3 | Nov 16, 2018 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 7 | Sep 17, 2020 |
| Polycystic liver disease 1 | 7 | Feb 21, 2018 |
| Polycystic liver disease 2 | 4 | Feb 22, 2018 |
| Polycystic liver disease 3 with or without kidney cysts | 3 | Mar 1, 2022 |
| Polycystic liver disease 4 with or without kidney cysts | 3 | Feb 22, 2018 |
| Polydactyly of a biphalangeal thumb | 1 | May 4, 2021 |
| Polydactyly of a triphalangeal thumb | 11 | Mar 15, 2024 |
| Polydactyly, postaxial, type A1 | 1 | Apr 17, 2018 |
| Polydactyly, postaxial, type A6 | 1 | May 8, 2013 |
| Polydactyly, postaxial, type A8 | 3 | Sep 18, 2018 |
| Polydactyly, postaxial, type A9 | 1 | Aug 26, 2019 |
| Polydactyly, postaxial, type a10 | 3 | Jan 26, 2023 |
| Polydactyly, postaxial, type a7 | 3 | Sep 11, 2020 |
| Polydactyly-macrocephaly syndrome | 1 | Feb 8, 2024 |
| Polyendocrine-polyneuropathy syndrome | 1 | Feb 15, 2022 |
| Polyglandular autoimmune syndrome, type 1 | 10 | Jul 5, 2022 |
| Polyglucosan body myopathy 1 with immunodeficiency | 3 | Jun 23, 2022 |
| Polyglucosan body myopathy 1 without immunodeficiency | 8 | Jun 23, 2022 |
| Polyglucosan body myopathy type 1 | 2 | Aug 15, 2016 |
| Polyglucosan body myopathy type 2 | 5 | Feb 16, 2017 |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 3 | Sep 17, 2021 |
| Polymicrogyria with optic nerve hypoplasia | 1 | Mar 30, 2021 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 5 | Mar 5, 2019 |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 1 | Aug 31, 2016 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 10 | Jan 24, 2022 |
| Polyneuropathy, inflammatory demyelinating | 1 | Apr 21, 2015 |
| Polyostotic fibrous dysplasia, somatic, mosaic | 1 | Sep 26, 2017 |
| Polyposis syndrome, hereditary mixed, 2 | 1 | Dec 12, 2017 |
| Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 5 | Jul 16, 2019 |
| Polysyndactyly 4 | 2 | May 2, 2019 |
| Pontocerebellar hypoplasia type 10 | 1 | Mar 12, 2019 |
| Pontocerebellar hypoplasia type 1A | 2 | Aug 5, 2021 |
| Pontocerebellar hypoplasia type 1B | 7 | Apr 6, 2015 |
| Pontocerebellar hypoplasia type 2A | 1 | Feb 10, 2015 |
| Pontocerebellar hypoplasia type 2B | 4 | Aug 16, 2019 |
| Pontocerebellar hypoplasia type 2C | 1 | Feb 10, 2015 |
| Pontocerebellar hypoplasia type 2D | 3 | May 5, 2015 |
| Pontocerebellar hypoplasia type 2E | 2 | Jan 4, 2022 |
| Pontocerebellar hypoplasia type 3 | 1 | Dec 16, 2019 |
| Pontocerebellar hypoplasia type 4 | 5 | Aug 16, 2019 |
| Pontocerebellar hypoplasia type 5 | 2 | Feb 10, 2015 |
| Pontocerebellar hypoplasia type 6 | 4 | Oct 6, 2016 |
| Pontocerebellar hypoplasia type 7 | 6 | May 6, 2021 |
| Pontocerebellar hypoplasia type 8 | 2 | Nov 11, 2020 |
| Pontocerebellar hypoplasia type 9 | 6 | Aug 19, 2016 |
| Pontocerebellar hypoplasia, IIA 17 | 3 | Jun 10, 2022 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 3 | Mar 8, 2022 |
| Pontocerebellar hypoplasia, type 11 | 5 | Sep 29, 2017 |
| Pontocerebellar hypoplasia, type 12 | 3 | Jun 20, 2023 |
| Pontocerebellar hypoplasia, type 13 | 3 | Oct 2, 2019 |
| Pontocerebellar hypoplasia, type 14 | 5 | Apr 30, 2021 |
| Pontocerebellar hypoplasia, type 15 | 1 | Apr 29, 2021 |
| Pontocerebellar hypoplasia, type 16 | 7 | Sep 23, 2021 |
| Pontocerebellar hypoplasia, type 1C | 2 | Oct 25, 2017 |
| Pontocerebellar hypoplasia, type 1D | 5 | May 25, 2022 |
| Pontocerebellar hypoplasia, type 1E | 9 | May 6, 2021 |
| Pontocerebellar hypoplasia, type 1F | 1 | May 6, 2021 |
| Pontocerebellar hypoplasia, type 2F | 3 | Sep 26, 2016 |
| Popliteal pterygium syndrome | 8 | Oct 18, 2017 |
| Porencephaly 2 | 4 | Sep 10, 2019 |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 4 | Mar 27, 2020 |
| Porokeratosis 1, Mibelli type | 2 | Aug 15, 2016 |
| Porokeratosis 3, disseminated superficial actinic type | 9 | Jun 2, 2022 |
| Porokeratosis 7, multiple types | 2 | Aug 15, 2016 |
| Porokeratosis 8, disseminated superficial actinic type | 2 | Oct 27, 2014 |
| Porokeratosis 9, multiple types | 3 | Aug 15, 2016 |
| Porphobilinogen synthase deficiency | 6 | Aug 3, 2015 |
| Porphyria cutanea tarda | 3 | Sep 6, 2018 |
| Porphyria, acute hepatic, digenic | 1 | Dec 21, 2012 |
| Porphyria, acute intermittent, nonerythroid variant | 5 | Oct 31, 2020 |
| Portal hypertension, noncirrhotic, 1 | 1 | Aug 2, 2021 |
| Portal hypertension, noncirrhotic, 2 | 4 | Aug 3, 2021 |
| Postanesthetic apnea | 3 | Apr 24, 2018 |
| Postaxial polydactyly type B | 1 | Aug 23, 2016 |
| Postaxial polydactyly, type A1/B | 4 | May 3, 2018 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 4 | Dec 13, 2021 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 4 | Dec 14, 2021 |
| Posterior polymorphous corneal dystrophy 1 | 5 | Oct 13, 2021 |
| Posterior polymorphous corneal dystrophy 2 | 2 | Dec 14, 2017 |
| Posterior polymorphous corneal dystrophy 3 | 4 | Jan 23, 2023 |
| Postmenopausal osteoporosis | 1 | Apr 10, 2018 |
| Potassium-aggravated myotonia | 3 | Feb 10, 2015 |
| Precocious puberty, central, 2 | 5 | Sep 7, 2017 |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 9 | Jul 27, 2022 |
| Preeclampsia/eclampsia 4 | 2 | Jul 20, 2011 |
| Preeclampsia/eclampsia 5 | 2 | Aug 31, 2017 |
| Pregnancy loss, recurrent, susceptibility to, 1 | 1 | Feb 12, 2019 |
| Pregnancy loss, recurrent, susceptibility to, 2 | 1 | May 31, 2018 |
| Pregnancy loss, recurrent, susceptibility to, 3 | 1 | Dec 13, 2011 |
| Preimplantation embryonic lethality 1 | 1 | Dec 2, 2016 |
| Preimplantation embryonic lethality 2 | 5 | Dec 2, 2016 |
| Prekallikrein deficiency | 6 | Aug 9, 2022 |
| Premature chromatid separation trait | 11 | Sep 13, 2019 |
| Premature ovarian failure 1 | 1 | Dec 23, 2019 |
| Premature ovarian failure 10 | 3 | Jul 1, 2016 |
| Premature ovarian failure 11 | 2 | May 27, 2020 |
| Premature ovarian failure 12 | 1 | Jul 15, 2021 |
| Premature ovarian failure 13 | 1 | Apr 20, 2017 |
| Premature ovarian failure 14 | 3 | Jul 23, 2024 |
| Premature ovarian failure 15 | 5 | Jul 23, 2024 |
| Premature ovarian failure 16 | 1 | Mar 3, 2020 |
| Premature ovarian failure 17 | 1 | Dec 30, 2020 |
| Premature ovarian failure 18 | 1 | Feb 23, 2021 |
| Premature ovarian failure 19 | 1 | Apr 15, 2021 |
| Premature ovarian failure 20 | 3 | Jul 1, 2022 |
| Premature ovarian failure 21 | 5 | Apr 4, 2023 |
| Premature ovarian failure 22 | 3 | Oct 23, 2023 |
| Premature ovarian failure 23 | 4 | Jan 22, 2024 |
| Premature ovarian failure 24 | 2 | May 28, 2024 |
| Premature ovarian failure 2A | 1 | Sep 6, 2019 |
| Premature ovarian failure 2B | 1 | Mar 11, 2021 |
| Premature ovarian failure 3 | 3 | Apr 18, 2017 |
| Premature ovarian failure 4 | 4 | Apr 11, 2022 |
| Premature ovarian failure 5 | 6 | Sep 10, 2019 |
| Premature ovarian failure 6 | 3 | Jun 21, 2019 |
| Premature ovarian failure 7 | 6 | Aug 9, 2016 |
| Premature ovarian failure 8 | 5 | Dec 23, 2021 |
| Premature ovarian failure 9 | 4 | Sep 16, 2019 |
| Preterm premature rupture of membranes | 2 | Jan 30, 2013 |
| Pretibial dystrophic epidermolysis bullosa | 1 | May 1, 2012 |
| Prieto syndrome | 4 | Dec 1, 2023 |
| Primary CD59 deficiency | 3 | Feb 25, 2014 |
| Primary adrenocortical insufficiency | 2 | Nov 28, 2011 |
| Primary ciliary dyskinesia | 1 | May 9, 2018 |
| Primary ciliary dyskinesia 10 | 4 | Aug 3, 2021 |
| Primary ciliary dyskinesia 11 | 6 | Sep 6, 2019 |
| Primary ciliary dyskinesia 12 | 2 | Sep 20, 2021 |
| Primary ciliary dyskinesia 13 | 5 | Jan 29, 2020 |
| Primary ciliary dyskinesia 14 | 5 | Jun 23, 2023 |
| Primary ciliary dyskinesia 15 | 4 | Sep 11, 2013 |
| Primary ciliary dyskinesia 16 | 1 | Aug 5, 2019 |
| Primary ciliary dyskinesia 17 | 2 | Apr 27, 2017 |
| Primary ciliary dyskinesia 18 | 3 | Sep 12, 2019 |
| Primary ciliary dyskinesia 19 | 7 | Jul 27, 2015 |
| Primary ciliary dyskinesia 2 | 3 | Mar 23, 2018 |
| Primary ciliary dyskinesia 20 | 5 | Dec 16, 2021 |
| Primary ciliary dyskinesia 21 | 2 | Jan 24, 2020 |
| Primary ciliary dyskinesia 22 | 6 | Apr 28, 2017 |
| Primary ciliary dyskinesia 23 | 5 | Sep 27, 2019 |
| Primary ciliary dyskinesia 24 | 6 | Apr 28, 2017 |
| Primary ciliary dyskinesia 25 | 4 | Apr 29, 2017 |
| Primary ciliary dyskinesia 26 | 3 | May 15, 2015 |
| Primary ciliary dyskinesia 27 | 1 | Nov 27, 2018 |
| Primary ciliary dyskinesia 28 | 2 | Nov 6, 2013 |
| Primary ciliary dyskinesia 29 | 6 | Apr 13, 2020 |
| Primary ciliary dyskinesia 3 | 10 | Aug 3, 2021 |
| Primary ciliary dyskinesia 30 | 2 | Jun 28, 2021 |
| Primary ciliary dyskinesia 32 | 5 | Sep 6, 2019 |
| Primary ciliary dyskinesia 33 | 3 | Jul 17, 2017 |
| Primary ciliary dyskinesia 34 | 2 | Sep 1, 2016 |
| Primary ciliary dyskinesia 35 | 2 | Sep 1, 2016 |
| Primary ciliary dyskinesia 5 | 3 | Sep 27, 2013 |
| Primary ciliary dyskinesia 6 | 2 | Mar 26, 2018 |
| Primary ciliary dyskinesia 7 | 5 | Oct 29, 2019 |
| Primary ciliary dyskinesia 9 | 4 | Mar 23, 2018 |
| Primary coenzyme Q10 deficiency 8 | 6 | Jan 31, 2024 |
| Primary erythromelalgia | 7 | Oct 20, 2017 |
| Primary failure of tooth eruption | 3 | Jan 7, 2019 |
| Primary familial hypertrophic cardiomyopathy | 4 | Sep 26, 2018 |
| Primary familial polycythemia due to EPO receptor mutation | 9 | Jan 12, 2022 |
| Primary hyperoxaluria type 3 | 8 | Apr 10, 2019 |
| Primary hyperoxaluria, type I | 14 | Aug 20, 2018 |
| Primary hyperoxaluria, type II | 5 | May 5, 2015 |
| Primary hyperparathyroidism | 1 | May 14, 2020 |
| Primary hypomagnesemia | 18 | Jun 29, 2018 |
| Primary immunodeficiency syndrome due to p14 deficiency | 1 | Jun 9, 2021 |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 1 | Jan 9, 2018 |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 3 | Sep 12, 2022 |
| Primary intraosseous venous malformation | 3 | Sep 13, 2016 |
| Primary myelofibrosis | 3 | Jan 12, 2022 |
| Primary open angle glaucoma | 1 | Jan 26, 2017 |
| Primary progressive aphasia | 4 | Feb 12, 2021 |
| Primordial dwarfism-immunodeficiency-lipodystrophy syndrome | 3 | Aug 12, 2022 |
| Primrose syndrome | 11 | Feb 16, 2024 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 5 | Feb 28, 2019 |
| Progeroid features-hepatocellular carcinoma predisposition syndrome | 3 | Jan 23, 2015 |
| Progressive bifocal chorioretinal atrophy | 2 | Jan 22, 2021 |
| Progressive bulbar palsy of childhood | 1 | Dec 21, 2021 |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 6 | Jul 8, 2022 |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 3 | Nov 20, 2020 |
| Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | 2 | Apr 8, 2022 |
| Progressive external ophthalmoplegia | 3 | Dec 28, 2020 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 4 | Oct 11, 2016 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 4 | Nov 14, 2016 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 11 | Mar 27, 2017 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 4 | Sep 8, 2018 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 3 | Dec 28, 2020 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 8 | Oct 11, 2016 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 3 | Jul 29, 2015 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 2 | Dec 15, 2014 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 7 | Aug 2, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | 3 | Mar 7, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic | 2 | Mar 27, 2017 |
| Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | 2 | Dec 6, 2023 |
| Progressive external ophthalmoplegia with myoclonus | 1 | Oct 10, 2016 |
| Progressive external ophthalmoplegia, proximal myopathy, and sudden death | 1 | Nov 12, 2012 |
| Progressive familial heart block type IB | 6 | Aug 6, 2019 |
| Progressive familial heart block, type 1A | 4 | Jan 5, 2018 |
| Progressive familial intrahepatic cholestasis type 1 | 9 | Oct 29, 2016 |
| Progressive familial intrahepatic cholestasis type 2 | 7 | Nov 30, 2016 |
| Progressive familial intrahepatic cholestasis type 3 | 5 | Dec 20, 2017 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 3 | May 3, 2017 |
| Progressive myoclonic epilepsy type 3 | 7 | Feb 29, 2024 |
| Progressive myoclonic epilepsy type 5 | 2 | Aug 11, 2016 |
| Progressive myoclonic epilepsy type 6 | 2 | Mar 22, 2021 |
| Progressive myoclonic epilepsy type 7 | 1 | Jan 20, 2015 |
| Progressive myoclonic epilepsy type 8 | 2 | Mar 18, 2022 |
| Progressive myoclonic epilepsy type 9 | 1 | Feb 19, 2021 |
| Progressive myositis ossificans | 9 | Feb 27, 2019 |
| Progressive osseous heteroplasia | 4 | Sep 26, 2017 |
| Progressive pseudorheumatoid dysplasia | 11 | Oct 8, 2020 |
| Progressive retinal dystrophy due to retinol transport defect | 3 | Sep 10, 2019 |
| Progressive scapulohumeroperoneal distal myopathy | 1 | Apr 2, 2021 |
| Progressive sclerosing poliodystrophy | 6 | Oct 11, 2016 |
| Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | 1 | Aug 20, 2018 |
| Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | 2 | Nov 9, 2017 |
| Progressive supranuclear palsy-parkinsonism syndrome | 1 | Aug 18, 2016 |
| Proguanil, poor metabolism of | 2 | May 14, 2018 |
| Prolidase deficiency | 11 | May 12, 2015 |
| Proliferative vitreoretinopathy | 2 | Nov 25, 2019 |
| Proline dehydrogenase deficiency | 9 | Jun 19, 2017 |
| Prolonged bleeding time, brachydactyly, and intellectual disability | 1 | Sep 30, 2013 |
| Prolonged electroretinal response suppression 2 | 4 | Dec 5, 2023 |
| Properdin deficiency, X-linked | 3 | Dec 12, 2011 |
| Properdin deficiency, type II | 1 | Dec 12, 2011 |
| Properdin deficiency, type III | 1 | Dec 12, 2011 |
| Propionic acidemia | 15 | Dec 20, 2021 |
| Prostate cancer susceptibility | 3 | Sep 20, 2017 |
| Prostate cancer, hereditary, 1 | 2 | Apr 9, 2012 |
| Prostate cancer, hereditary, 12 | 1 | Oct 18, 2018 |
| Prostate cancer, hereditary, 13 | 1 | Oct 18, 2018 |
| Prostate cancer, hereditary, 2 | 5 | Jan 28, 2020 |
| Prostate cancer, hereditary, 9 | 1 | Oct 23, 2018 |
| Prostate cancer, somatic | 17 | Feb 12, 2019 |
| Prostate cancer/brain cancer susceptibility | 4 | May 26, 2015 |
| Protan defect | 1 | Jan 14, 2015 |
| Proteasome-associated autoinflammatory syndrome 1 | 7 | Apr 23, 2024 |
| Proteasome-associated autoinflammatory syndrome 2 | 3 | Jul 17, 2018 |
| Proteasome-associated autoinflammatory syndrome 3 | 4 | Jul 23, 2018 |
| Proteasome-associated autoinflammatory syndrome 4 | 2 | Feb 17, 2021 |
| Proteasome-associated autoinflammatory syndrome 5 | 5 | Jun 11, 2024 |
| Proteasome-associated autoinflammatory syndrome 6 | 1 | May 14, 2024 |
| Protein S Heerlen | 1 | Mar 1, 2012 |
| Protein Z deficiency | 1 | Jul 7, 2011 |
| Protein-losing enteropathy | 5 | Aug 11, 2017 |
| Proteinuria, chronic benign | 4 | May 18, 2020 |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 4 | Jun 22, 2021 |
| Proteus syndrome | 1 | Apr 4, 2013 |
| Proteus-like syndrome | 2 | Jun 27, 2018 |
| Protoporphyria, erythropoietic, 1 | 16 | Jun 19, 2018 |
| Protoporphyria, erythropoietic, 2 | 1 | Jun 19, 2018 |
| Proximal myopathy with extrapyramidal signs | 8 | Jun 25, 2021 |
| Proximal symphalangism 1A | 8 | Mar 15, 2019 |
| Prune belly syndrome | 2 | Aug 4, 2020 |
| Pseudo von Willebrand disease | 2 | Mar 28, 2013 |
| Pseudo-Hurler polydystrophy | 8 | Dec 15, 2017 |
| Pseudo-TORCH syndrome 1 | 4 | Mar 26, 2017 |
| Pseudo-TORCH syndrome 2 | 3 | Feb 5, 2020 |
| Pseudo-TORCH syndrome 3 | 2 | Jul 17, 2020 |
| Pseudoachondroplasia, severe | 1 | Dec 6, 2017 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 10 | Jan 19, 2021 |
| Pseudofolliculitis barbae | 1 | Oct 2, 2008 |
| Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance | 1 | Aug 15, 2016 |
| Pseudohypoaldosteronism type 2B | 4 | Feb 27, 2012 |
| Pseudohypoaldosteronism type 2C | 2 | Oct 18, 2016 |
| Pseudohypoaldosteronism type 2D | 12 | Oct 28, 2014 |
| Pseudohypoaldosteronism type 2E | 7 | Feb 9, 2018 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 5 | Jun 6, 2011 |
| Pseudohypoaldosteronism, type IB2, autosomal recessive | 5 | Dec 6, 2023 |
| Pseudohypoaldosteronism, type IB3, autosomal recessive | 3 | Sep 27, 2018 |
| Pseudohypoparathyroidism | 18 | Sep 26, 2017 |
| Pseudohypoparathyroidism type 1B | 4 | Aug 5, 2016 |
| Pseudohypoparathyroidism type 1C | 4 | Sep 26, 2017 |
| Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | 1 | Sep 30, 2020 |
| Pseudopseudohypoparathyroidism | 11 | Sep 26, 2017 |
| Pseudoxanthoma elasticum, modifier of severity of | 2 | Feb 29, 2012 |
| Psoriasis 1, susceptibility to | 1 | May 6, 2013 |
| Psoriasis 13, susceptibility to | 1 | Mar 10, 2015 |
| Psoriasis 15, pustular, susceptibility to | 2 | Dec 16, 2020 |
| Psoriasis 2 | 4 | Apr 6, 2017 |
| Psoriasis 2, pustular | 1 | Nov 25, 2014 |
| Psoriasis, protection against | 1 | Jul 23, 2019 |
| Psoriatic arthritis, susceptibility to | 2 | Sep 6, 2016 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 3 | May 4, 2022 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 | Oct 26, 2021 |
| Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | 5 | Feb 2, 2015 |
| Pulmonary alveolar proteinosis with hypogammaglobulinemia | 4 | May 16, 2022 |
| Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | 8 | Dec 6, 2017 |
| Pulmonary disease, chronic obstructive, susceptibility to | 1 | Mar 15, 2022 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | 2 | May 10, 2023 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | 1 | May 10, 2023 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 | 1 | Jun 1, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 15 | Nov 15, 2019 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 9 | Nov 27, 2019 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 8 | May 8, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 4 | May 20, 2015 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 1 | Nov 27, 2019 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | 3 | Mar 3, 2022 |
| Pulmonary fibrosis, idiopathic, susceptibility to | 2 | Nov 18, 2021 |
| Pulmonary hypertension, neonatal, susceptibility to | 1 | Jun 18, 2019 |
| Pulmonary hypertension, primary, 1 | 22 | Mar 20, 2018 |
| Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | 1 | Mar 20, 2018 |
| Pulmonary hypertension, primary, 2 | 3 | Feb 12, 2018 |
| Pulmonary hypertension, primary, 3 | 2 | Mar 20, 2018 |
| Pulmonary hypertension, primary, 4 | 5 | Jun 9, 2017 |
| Pulmonary hypertension, primary, 6 | 2 | Apr 2, 2024 |
| Pulmonary hypertension, primary, autosomal recessive | 5 | May 25, 2022 |
| Pulmonary hypertension, primary, dexfenfluramine-associated | 1 | Jan 23, 2013 |
| Pulmonary hypertension, primary, fenfluramine-associated | 1 | Jan 23, 2013 |
| Pulmonary venoocclusive disease 1 | 5 | Mar 20, 2018 |
| Purine-nucleoside phosphorylase deficiency | 9 | Aug 12, 2015 |
| Pyknodysostosis | 7 | Sep 16, 2016 |
| Pyle metaphyseal dysplasia | 3 | Oct 3, 2017 |
| Pyloric stenosis, infantile hypertrophic, 1 | 1 | Mar 15, 2013 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2 | Nov 29, 2007 |
| Pyogenic bacterial infections due to MyD88 deficiency | 5 | Jun 25, 2020 |
| Pyridoxal phosphate-responsive seizures | 6 | Feb 9, 2022 |
| Pyridoxine-dependent epilepsy | 9 | Dec 22, 2017 |
| Pyropoikilocytosis, hereditary | 10 | Mar 12, 2020 |
| Pyruvate carboxylase deficiency | 9 | Sep 8, 2017 |
| Pyruvate dehydrogenase E1-alpha deficiency | 23 | Jan 13, 2021 |
| Pyruvate dehydrogenase E1-beta deficiency | 11 | Aug 6, 2021 |
| Pyruvate dehydrogenase E2 deficiency | 3 | Apr 19, 2019 |
| Pyruvate dehydrogenase E3 deficiency | 12 | Sep 15, 2016 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 11 | Sep 20, 2021 |
| Pyruvate dehydrogenase phosphatase deficiency | 3 | Oct 27, 2020 |
| Pyruvate kinase deficiency of red cells | 12 | Oct 11, 2016 |
| Pyruvate kinase hyperactivity | 1 | Mar 1, 2022 |
| Quebec platelet disorder | 1 | Oct 11, 2013 |
| Question mark ears, isolated | 2 | Aug 4, 2016 |
| RAB23-related Carpenter syndrome | 3 | Apr 15, 2017 |
| RCBTB1-related retinopathy | 2 | Nov 1, 2016 |
| RECLASSIFIED - ABCA1 POLYMORPHISM | 1 | Jul 24, 2019 |
| RECLASSIFIED - ADRB2 POLYMORPHISM | 1 | May 3, 2019 |
| RECLASSIFIED - ALPHA-2-HS-GLYCOPROTEIN POLYMORPHISM | 3 | Feb 15, 2022 |
| RECLASSIFIED - MATRIX METALLOPROTEINASE 1 POLYMORPHISM | 1 | Jun 18, 2013 |
| RECLASSIFIED - MTTP POLYMORPHISM | 1 | Mar 6, 2019 |
| RECLASSIFIED - PDCD1 POLYMORPHISM | 1 | Nov 28, 2012 |
| RECLASSIFIED - PLTP POLYMORPHISM | 1 | Oct 12, 2010 |
| RECLASSIFIED - POLYMORPHISM | 7 | Jun 11, 2019 |
| RECLASSIFIED - PPARG2 POLYMORPHISM | 1 | Sep 4, 2020 |
| RECLASSIFIED - VNN1 POLYMORPHISM | 1 | Apr 27, 2010 |
| RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM | 1 | May 4, 2021 |
| RECON progeroid syndrome | 1 | May 5, 2023 |
| RED CONE POLYMORPHISM | 1 | Dec 10, 2010 |
| RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS | 1 | Aug 11, 2016 |
| RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | 2 | Oct 31, 2016 |
| RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | 2 | Apr 6, 2010 |
| RETINITIS PIGMENTOSA 98 | 3 | Oct 29, 2024 |
| RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED | 1 | Apr 6, 2010 |
| RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | 2 | Jan 8, 2019 |
| RFT1-congenital disorder of glycosylation | 7 | Aug 20, 2019 |
| RH C/c POLYMORPHISM | 1 | Apr 11, 2013 |
| RH E/e POLYMORPHISM | 1 | Apr 11, 2013 |
| RH-NULL, AMORPH TYPE | 4 | May 15, 2018 |
| RHD-NEGATIVE POLYMORPHISM | 1 | Jul 30, 2021 |
| RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE, SUSCEPTIBILITY TO | 2 | Jan 8, 2021 |
| RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY | 6 | Mar 17, 2022 |
| RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY | 1 | Mar 17, 2022 |
| RHYNS syndrome | 2 | Dec 4, 2018 |
| RIDDLE syndrome | 3 | Aug 9, 2019 |
| RIN2 syndrome | 4 | Nov 25, 2020 |
| Rabin-Pappas syndrome | 1 | Dec 13, 2022 |
| Rabson-Mendenhall syndrome | 4 | May 9, 2019 |
| Radial aplasia-thrombocytopenia syndrome | 4 | Oct 3, 2016 |
| Radin blood group | 1 | Nov 23, 2016 |
| Radio-Tartaglia syndrome | 5 | May 10, 2021 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 1 | Jan 8, 2016 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 3 | Mar 13, 2018 |
| Radioulnar synostosis, nonsyndromic, susceptibility to | 5 | Aug 28, 2020 |
| Rafiq syndrome | 12 | Nov 9, 2020 |
| Rahman syndrome | 3 | Jun 27, 2017 |
| Rajab interstitial lung disease with brain calcifications | 8 | Sep 8, 2020 |
| Rajab interstitial lung disease with brain calcifications 2 | 2 | Sep 9, 2020 |
| Rapadilino syndrome | 3 | Dec 27, 2019 |
| Rapp-Hodgkin syndrome | 7 | Oct 14, 2018 |
| Rauch-Steindl syndrome | 7 | Jan 11, 2022 |
| Recessive dystrophic epidermolysis bullosa | 16 | Jun 3, 2022 |
| Reclassified - variant of unknown significance | 12 | Mar 10, 2022 |
| Recombination rate quantitative trait locus 1 | 2 | Nov 18, 2014 |
| Recurrent Neisseria infections due to factor D deficiency | 2 | Dec 12, 2011 |
| Recurrent infections associated with rare immunoglobulin isotypes deficiency | 2 | Jul 6, 2021 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 10 | Jan 27, 2023 |
| Refsum disease, adult, 1 | 8 | Nov 1, 2016 |
| Regressive spondylometaphyseal dysplasia | 1 | Feb 3, 2022 |
| Reis-Bucklers' corneal dystrophy | 3 | Feb 12, 2020 |
| Renal carnitine transport defect | 23 | Sep 17, 2020 |
| Renal coloboma syndrome | 10 | Nov 7, 2018 |
| Renal cysts and diabetes syndrome | 12 | Feb 9, 2021 |
| Renal dysplasia, cystic, susceptibility to | 2 | Sep 7, 2012 |
| Renal hypodysplasia/aplasia 1 | 6 | Jan 19, 2018 |
| Renal hypodysplasia/aplasia 2 | 1 | Jan 19, 2018 |
| Renal hypodysplasia/aplasia 3 | 15 | Apr 20, 2021 |
| Renal hypodysplasia/aplasia 4 | 3 | May 24, 2022 |
| Renal hypomagnesemia 2 | 1 | May 13, 2016 |
| Renal hypomagnesemia 4 | 1 | Aug 1, 2018 |
| Renal hypomagnesemia 5 with ocular involvement | 5 | Jul 11, 2018 |
| Renal hypomagnesemia 6 | 2 | Feb 4, 2019 |
| Renal tubular acidosis with progressive nerve deafness | 6 | Feb 12, 2021 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 11 | Aug 28, 2020 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 4 | Aug 28, 2020 |
| Renal tubular acidosis, distal, with normal red cell morphology | 1 | Aug 4, 2016 |
| Renal tubular dysgenesis | 15 | Mar 30, 2020 |
| Renal-hepatic-pancreatic dysplasia 1 | 4 | Jan 19, 2018 |
| Renal-hepatic-pancreatic dysplasia 2 | 10 | Feb 14, 2018 |
| Renpenning syndrome | 7 | Aug 9, 2018 |
| Resistance to Plasmodium vivax infection | 1 | Dec 11, 2017 |
| Resistance to hepatitis C virus | 1 | Sep 3, 2020 |
| Respiratory infections, recurrent, and failure to thrive with or without diarrhea | 4 | Jan 31, 2023 |
| Respiratory papillomatosis, juvenile recurrent, congenital | 1 | Sep 21, 2021 |
| Resting heart rate | 1 | Feb 3, 2011 |
| Restrictive cardiomyopathy | 1 | Aug 23, 2017 |
| Restrictive dermopathy 2 | 2 | Mar 14, 2022 |
| Reticular dysgenesis | 13 | Mar 27, 2019 |
| Reticulate acropigmentation of Kitamura | 5 | Feb 28, 2017 |
| Retinal arterial macroaneurysm with supravascular pulmonic stenosis | 1 | Sep 13, 2011 |
| Retinal arterial tortuosity | 1 | Oct 3, 2017 |
| Retinal cone dystrophy 3A | 1 | Oct 2, 2012 |
| Retinal cone dystrophy 4 | 3 | Jan 27, 2017 |
| Retinal degeneration, autosomal recessive, clumped pigment type | 2 | Aug 18, 2016 |
| Retinal dystrophy and microvillus inclusion disease | 4 | Nov 9, 2021 |
| Retinal dystrophy and obesity | 1 | Sep 24, 2019 |
| Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | 1 | Nov 11, 2014 |
| Retinal dystrophy with leukodystrophy | 2 | Apr 28, 2020 |
| Retinal dystrophy with or without macular staphyloma | 3 | Jul 17, 2018 |
| Retinal dystrophy, early-onset severe | 2 | Dec 29, 2016 |
| Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | 2 | Sep 1, 2023 |
| Retinal macular dystrophy type 2 | 1 | Mar 18, 2013 |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2 | Jan 25, 2021 |
| Retinitis pigmentosa 1 | 6 | Feb 16, 2021 |
| Retinitis pigmentosa 10 | 4 | Sep 7, 2016 |
| Retinitis pigmentosa 11 | 9 | Oct 18, 2016 |
| Retinitis pigmentosa 12 | 10 | Nov 28, 2018 |
| Retinitis pigmentosa 13 | 7 | Nov 30, 2018 |
| Retinitis pigmentosa 14 | 9 | Jul 19, 2021 |
| Retinitis pigmentosa 17 | 3 | Feb 3, 2021 |
| Retinitis pigmentosa 18 | 3 | Oct 28, 2019 |
| Retinitis pigmentosa 19 | 4 | Jul 7, 2023 |
| Retinitis pigmentosa 2 | 8 | Sep 12, 2017 |
| Retinitis pigmentosa 20 | 8 | Mar 18, 2021 |
| Retinitis pigmentosa 23 | 1 | Jan 28, 2020 |
| Retinitis pigmentosa 25 | 6 | Aug 9, 2017 |
| Retinitis pigmentosa 26 | 4 | Aug 14, 2015 |
| Retinitis pigmentosa 27 | 2 | Aug 18, 2016 |
| Retinitis pigmentosa 28 | 6 | Mar 26, 2020 |
| Retinitis pigmentosa 3 | 15 | Jan 8, 2019 |
| Retinitis pigmentosa 30 | 1 | May 27, 2014 |
| Retinitis pigmentosa 31 | 4 | Feb 7, 2024 |
| Retinitis pigmentosa 32 | 1 | Jul 15, 2020 |
| Retinitis pigmentosa 33 | 3 | May 13, 2019 |
| Retinitis pigmentosa 35 | 3 | May 8, 2015 |
| Retinitis pigmentosa 36 | 2 | Apr 8, 2019 |
| Retinitis pigmentosa 37 | 4 | Feb 21, 2017 |
| Retinitis pigmentosa 38 | 8 | Sep 29, 2016 |
| Retinitis pigmentosa 39 | 7 | Feb 2, 2023 |
| Retinitis pigmentosa 4 | 38 | Oct 19, 2017 |
| Retinitis pigmentosa 4, autosomal recessive | 3 | Oct 19, 2017 |
| Retinitis pigmentosa 40 | 7 | May 9, 2017 |
| Retinitis pigmentosa 41 | 2 | Aug 31, 2016 |
| Retinitis pigmentosa 42 | 3 | Jul 28, 2016 |
| Retinitis pigmentosa 43 | 8 | Mar 22, 2023 |
| Retinitis pigmentosa 44 | 2 | May 16, 2013 |
| Retinitis pigmentosa 45 | 3 | Dec 3, 2018 |
| Retinitis pigmentosa 46 | 3 | Sep 9, 2020 |
| Retinitis pigmentosa 47 | 1 | Apr 27, 2017 |
| Retinitis pigmentosa 48 | 1 | May 1, 2018 |
| Retinitis pigmentosa 49 | 10 | Feb 23, 2023 |
| Retinitis pigmentosa 50 | 4 | Oct 19, 2016 |
| Retinitis pigmentosa 51 | 2 | Jun 2, 2016 |
| Retinitis pigmentosa 53 | 2 | Jul 15, 2015 |
| Retinitis pigmentosa 54 | 5 | Jan 30, 2019 |
| Retinitis pigmentosa 55 | 2 | Sep 4, 2020 |
| Retinitis pigmentosa 56 | 4 | Sep 11, 2021 |
| Retinitis pigmentosa 57 | 1 | Oct 6, 2010 |
| Retinitis pigmentosa 58 | 1 | Oct 12, 2016 |
| Retinitis pigmentosa 59 | 1 | Jan 24, 2022 |
| Retinitis pigmentosa 60 | 1 | May 19, 2011 |
| Retinitis pigmentosa 61 | 2 | Feb 28, 2012 |
| Retinitis pigmentosa 62 | 5 | Aug 6, 2019 |
| Retinitis pigmentosa 64 | 4 | Sep 25, 2019 |
| Retinitis pigmentosa 65 | 6 | Mar 30, 2023 |
| Retinitis pigmentosa 66 | 1 | May 16, 2013 |
| Retinitis pigmentosa 67 | 1 | May 29, 2020 |
| Retinitis pigmentosa 68 | 4 | Apr 3, 2014 |
| Retinitis pigmentosa 69 | 3 | Feb 9, 2015 |
| Retinitis pigmentosa 7 | 8 | Aug 22, 2019 |
| Retinitis pigmentosa 7, digenic | 3 | Jul 23, 2018 |
| Retinitis pigmentosa 70 | 2 | Sep 25, 2019 |
| Retinitis pigmentosa 71 | 3 | Nov 2, 2017 |
| Retinitis pigmentosa 72 | 2 | Jan 7, 2019 |
| Retinitis pigmentosa 73 | 3 | Oct 5, 2016 |
| Retinitis pigmentosa 74 | 4 | Apr 25, 2017 |
| Retinitis pigmentosa 75 | 2 | Sep 6, 2017 |
| Retinitis pigmentosa 76 | 6 | Sep 20, 2016 |
| Retinitis pigmentosa 77 | 4 | Jan 26, 2017 |
| Retinitis pigmentosa 78 | 5 | Apr 7, 2017 |
| Retinitis pigmentosa 79 | 1 | Apr 27, 2017 |
| Retinitis pigmentosa 80 | 7 | Nov 27, 2017 |
| Retinitis pigmentosa 81 | 1 | Aug 9, 2019 |
| Retinitis pigmentosa 83 | 1 | Apr 29, 2019 |
| Retinitis pigmentosa 84 | 2 | Apr 27, 2021 |
| Retinitis pigmentosa 85 | 1 | Jun 23, 2020 |
| Retinitis pigmentosa 86 | 2 | Oct 3, 2019 |
| Retinitis pigmentosa 87 with choroidal involvement | 1 | Apr 1, 2020 |
| Retinitis pigmentosa 88 | 5 | Mar 26, 2020 |
| Retinitis pigmentosa 89 | 2 | Jul 16, 2020 |
| Retinitis pigmentosa 9 | 2 | Mar 26, 2014 |
| Retinitis pigmentosa 90 | 9 | Oct 6, 2020 |
| Retinitis pigmentosa 92 | 1 | Nov 11, 2021 |
| Retinitis pigmentosa 93 | 3 | Apr 19, 2022 |
| Retinitis pigmentosa 94, variable age at onset | 7 | Jun 28, 2022 |
| Retinitis pigmentosa 95 | 4 | Oct 25, 2022 |
| Retinitis pigmentosa 97 | 1 | Jun 15, 2023 |
| Retinitis pigmentosa and erythrocytic microcytosis | 4 | May 26, 2016 |
| Retinitis pigmentosa in ciliopathies, modifier of | 1 | Jan 18, 2012 |
| Retinitis pigmentosa with or without situs inversus | 7 | Aug 27, 2024 |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 2 | Jan 8, 2019 |
| Retinitis pigmentosa-deafness syndrome | 1 | Feb 18, 2009 |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 2 | Nov 10, 2017 |
| Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | 2 | Mar 3, 2015 |
| Retinitis punctata albescens | 5 | Oct 18, 2017 |
| Retinitis punctata albescens, autosomal dominant | 1 | Aug 22, 2019 |
| Retinoblastoma | 25 | Jan 29, 2018 |
| Retinopathy of prematurity | 1 | Jun 9, 2011 |
| Rett syndrome | 24 | Feb 26, 2018 |
| Rett syndrome, congenital variant | 7 | Jan 25, 2019 |
| Rett syndrome, zappella variant | 4 | Feb 26, 2018 |
| Revesz syndrome | 2 | Sep 17, 2013 |
| Reynolds syndrome | 1 | Sep 23, 2016 |
| Rh mod blood group phenotype | 3 | Dec 14, 2023 |
| Rh-null, regulator type | 9 | Dec 14, 2023 |
| RhD category D-VII | 1 | May 29, 2012 |
| Rhabdoid tumor predisposition syndrome 1 | 3 | Jan 17, 2018 |
| Rhabdoid tumor predisposition syndrome 2 | 6 | Mar 24, 2020 |
| Rhabdomyolysis, susceptibility to, 1 | 6 | Feb 3, 2023 |
| Rhabdomyosarcoma, embryonal, 2 | 2 | Oct 16, 2016 |
| Rhabdomyosarcoma, somatic | 1 | Oct 10, 2013 |
| Rhd, weak d, type I | 1 | May 16, 2018 |
| Rheumatoid arthritis | 6 | Sep 30, 2019 |
| Rheumatoid arthritis, progression of | 1 | Jan 3, 2018 |
| Rhizomelic chondrodysplasia punctata type 1 | 6 | Oct 17, 2016 |
| Rhizomelic chondrodysplasia punctata type 2 | 9 | Aug 17, 2015 |
| Rhizomelic chondrodysplasia punctata type 3 | 4 | Jan 17, 2018 |
| Rhizomelic chondrodysplasia punctata type 5 | 1 | Dec 23, 2015 |
| Rhizomelic dysplasia, Ain-Naz type | 1 | Oct 29, 2021 |
| Rhizomelic limb shortening with dysmorphic features | 6 | Apr 25, 2023 |
| Richieri Costa-Pereira syndrome | 4 | Jul 21, 2015 |
| Rienhoff syndrome | 6 | Apr 14, 2017 |
| Right atrial isomerism | 3 | Apr 19, 2018 |
| Ring dermoid of cornea | 1 | Jan 26, 2017 |
| Rippling muscle disease 2 | 11 | Sep 27, 2018 |
| Rippling muscle disease 2, autosomal recessive | 1 | Sep 26, 2018 |
| Ritscher-Schinzel syndrome 1 | 1 | Apr 7, 2017 |
| Ritscher-Schinzel syndrome 2 | 2 | Aug 11, 2020 |
| Ritscher-Schinzel syndrome 3 | 5 | Apr 8, 2024 |
| Ritscher-Schinzel syndrome 4 | 2 | Jul 22, 2021 |
| Roberts-SC phocomelia syndrome | 7 | Feb 23, 2021 |
| Robinow syndrome, autosomal recessive 2 | 3 | Aug 8, 2019 |
| Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | 1 | Sep 18, 2015 |
| Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly | 1 | Sep 18, 2015 |
| Robinow-Sorauf syndrome | 2 | Oct 26, 2017 |
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 1 | Mar 1, 2022 |
| Roifman syndrome | 7 | Sep 11, 2020 |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2 | Aug 20, 2021 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 4 | Aug 9, 2019 |
| Rothmund-Thomson syndrome type 1 | 3 | Oct 17, 2019 |
| Rothmund-Thomson syndrome type 2 | 9 | Jun 11, 2021 |
| Rothmund-Thomson syndrome, type 3 | 7 | Apr 29, 2024 |
| Rothmund-Thomson syndrome, type 4 | 6 | May 7, 2024 |
| Rotor syndrome | 5 | Sep 8, 2021 |
| Roussy-Lévy syndrome | 2 | Aug 18, 2016 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 8 | Feb 6, 2017 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 9 | Feb 26, 2019 |
| SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 | 1 | Nov 23, 2016 |
| SCIANNA BLOOD GROUP SYSTEM, SC:-1,2 | 1 | Nov 23, 2016 |
| SCID due to ADA deficiency, delayed onset | 4 | May 28, 2015 |
| SCOTT SYNDROME | 6 | Oct 23, 2023 |
| SECRETOR/NONSECRETOR POLYMORPHISM | 1 | Dec 18, 2018 |
| SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE | 1 | Aug 31, 2016 |
| SELECTIN P POLYMORPHISM | 2 | Jul 31, 2017 |
| SEPTIC SHOCK, SUSCEPTIBILITY TO | 1 | Sep 6, 2016 |
| SEPTOOPTIC DYSPLASIA, MILD | 1 | May 20, 2011 |
| SERKAL syndrome | 1 | Nov 22, 2016 |
| SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM | 1 | Mar 11, 2010 |
| SERUM AMYLOID A VARIANT | 2 | Nov 6, 2012 |
| SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF | 1 | Dec 11, 2017 |
| SHORT SLEEP, FAMILIAL NATURAL, 2 | 1 | Oct 23, 2020 |
| SHORT syndrome | 5 | Mar 28, 2017 |
| SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY | 3 | Oct 11, 2021 |
| SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY | 1 | Jun 18, 2018 |
| SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | 2 | Apr 2, 2018 |
| SHOX-related short stature | 2 | Nov 7, 2018 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 6 | Jul 15, 2022 |
| SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS | 1 | Sep 22, 2020 |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 6 | Feb 13, 2018 |
| SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2 | Feb 3, 2020 |
| SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | 2 | Feb 13, 2018 |
| SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR | 1 | Oct 6, 2017 |
| SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN | 2 | Feb 15, 2018 |
| SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR | 1 | Jul 26, 2018 |
| SLC22A4 POLYMORPHISM | 1 | Aug 18, 2009 |
| SLC35A1-congenital disorder of glycosylation | 5 | Sep 2, 2022 |
| SLC35A2-congenital disorder of glycosylation | 8 | Feb 29, 2024 |
| SLC39A8-CDG | 4 | Feb 16, 2017 |
| SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE | 11 | Sep 9, 2024 |
| SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT | 1 | Sep 15, 2022 |
| SPERMATOGENIC FAILURE 96 | 1 | Nov 1, 2024 |
| SPINK5 POLYMORPHISM | 1 | Jul 31, 2017 |
| SPINOCEREBELLAR ATAXIA 47, EARLY-ONSET | 1 | Jan 27, 2021 |
| SPINOCEREBELLAR ATAXIA 51 | 1 | Sep 17, 2024 |
| SPITZ NEVUS, SOMATIC | 1 | Apr 27, 2017 |
| SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC | 3 | Dec 1, 2014 |
| SRD5A3-congenital disorder of glycosylation | 5 | Aug 9, 2021 |
| SSR4-congenital disorder of glycosylation | 5 | Nov 28, 2016 |
| STAT3-related early-onset multisystem autoimmune disease | 7 | Sep 15, 2016 |
| STEROID 5-ALPHA-REDUCTASE POLYMORPHISM | 1 | Aug 19, 2015 |
| STING-associated vasculopathy with onset in infancy | 3 | Feb 17, 2015 |
| STT3A-congenital disorder of glycosylation | 1 | Jan 20, 2022 |
| STT3B-congenital disorder of glycosylation | 2 | May 19, 2022 |
| SUDDEN INFANT DEATH SYNDROME | 4 | Sep 1, 2020 |
| SUPEROXIDE DISMUTASE 2 POLYMORPHISM | 1 | Oct 19, 2020 |
| SWANN BLOOD GROUP ANTIGEN | 2 | Aug 4, 2016 |
| Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | 1 | Aug 4, 2016 |
| Saethre-Chotzen syndrome | 11 | Oct 26, 2017 |
| Saethre-Chotzen syndrome with eyelid anomalies | 1 | Apr 4, 2013 |
| Saldino-Mainzer syndrome | 9 | Nov 27, 2017 |
| Salla disease | 3 | Jul 22, 2015 |
| Sandestig-stefanova syndrome | 7 | Jun 16, 2020 |
| Sandhoff disease | 1 | Nov 4, 2009 |
| Sandhoff disease, adult form | 3 | Apr 20, 2020 |
| Sandhoff disease, chronic | 1 | Apr 20, 2020 |
| Sandhoff disease, infantile form | 6 | Apr 20, 2020 |
| Sandhoff disease, juvenile form | 3 | Jul 14, 2016 |
| Sarcoidosis, susceptibility to, 1 | 1 | Mar 14, 2013 |
| Sarcoidosis, susceptibility to, 2 | 1 | Aug 29, 2017 |
| Sarcosine dehydrogenase deficiency | 4 | Feb 11, 2015 |
| Sarcotubular myopathy | 5 | Mar 10, 2022 |
| Sardinian HPFH | 1 | Dec 11, 2017 |
| Scalp-ear-nipple syndrome | 8 | Dec 7, 2020 |
| Scaphocephaly and axenfeld-rieger anomaly | 1 | Apr 1, 2013 |
| Scapuloperoneal spinal muscular atrophy | 3 | Sep 7, 2021 |
| SchC6pf-Schulz-Passarge syndrome | 1 | Mar 6, 2017 |
| Schaaf-Yang syndrome | 10 | Nov 22, 2021 |
| Schimke immuno-osseous dysplasia | 8 | Jan 17, 2017 |
| Schinzel phocomelia syndrome | 4 | Mar 15, 2013 |
| Schinzel-Giedion syndrome | 5 | Apr 6, 2022 |
| Schizencephaly | 7 | Oct 20, 2017 |
| Schizophrenia 15 | 2 | Aug 18, 2016 |
| Schizophrenia 17 | 1 | Dec 14, 2017 |
| Schizophrenia 18 | 1 | Sep 26, 2014 |
| Schizophrenia 19 | 2 | Aug 17, 2017 |
| Schizophrenia 4 | 8 | Mar 10, 2016 |
| Schizophrenia 9 | 1 | Oct 3, 2016 |
| Schizophrenia, susceptibility to | 6 | Mar 2, 2017 |
| Schneckenbecken dysplasia | 7 | Dec 4, 2017 |
| Schnyder crystalline corneal dystrophy | 10 | Oct 17, 2017 |
| Schuurs-Hoeijmakers syndrome | 1 | Nov 4, 2021 |
| Schwannomatosis 1 | 9 | Jan 17, 2018 |
| Schwannomatosis 1, somatic | 1 | Mar 9, 2017 |
| Schwannomatosis 2 | 6 | Dec 17, 2018 |
| Schwartz-Jampel syndrome type 1 | 7 | Aug 3, 2018 |
| Sclerosteosis 1 | 4 | Jan 17, 2018 |
| Sclerosteosis 2 | 2 | Jan 17, 2018 |
| Scoliosis, isolated, susceptibility to, 3 | 1 | Apr 20, 2015 |
| Sea-blue histiocyte syndrome | 1 | Jan 10, 2018 |
| Seborrhea-like dermatitis with psoriasiform elements | 1 | Jan 28, 2022 |
| Seborrheic keratosis | 4 | Oct 5, 2021 |
| Seckel syndrome 1 | 4 | Aug 14, 2018 |
| Seckel syndrome 10 | 2 | Dec 15, 2016 |
| Seckel syndrome 11 | 4 | Mar 21, 2024 |
| Seckel syndrome 2 | 2 | Apr 9, 2019 |
| Seckel syndrome 4 | 1 | Mar 18, 2022 |
| Seckel syndrome 5 | 5 | Jun 13, 2018 |
| Seckel syndrome 6 | 1 | Oct 5, 2016 |
| Seckel syndrome 7 | 2 | May 22, 2015 |
| Seckel syndrome 8 | 4 | May 7, 2024 |
| Seckel syndrome 9 | 2 | May 22, 2019 |
| Seizures and lactic acidosis | 1 | Nov 2, 2016 |
| Seizures, benign familial infantile, 2 | 6 | Feb 19, 2015 |
| Seizures, benign familial infantile, 3 | 8 | Apr 6, 2022 |
| Seizures, benign familial infantile, 5 | 2 | Oct 19, 2020 |
| Seizures, benign familial infantile, 6 | 1 | Apr 19, 2018 |
| Seizures, benign familial neonatal, 1 | 8 | Oct 13, 2020 |
| Seizures, benign familial neonatal, 1, and/or myokymia | 2 | Jan 17, 2018 |
| Seizures, benign familial neonatal, 2 | 3 | Jul 24, 2015 |
| Seizures, early-onset, with neurodegeneration and brain calcifications | 6 | May 18, 2020 |
| Seizures-scoliosis-macrocephaly syndrome | 6 | Nov 6, 2020 |
| Selective pituitary resistance to thyroid hormone | 6 | Jan 13, 2021 |
| Sengers syndrome | 9 | Oct 5, 2016 |
| Senior-Loken syndrome 1 | 1 | Nov 6, 2017 |
| Senior-Loken syndrome 4 | 2 | Jan 17, 2018 |
| Senior-Loken syndrome 5 | 9 | Oct 12, 2015 |
| Senior-Loken syndrome 6 | 1 | Nov 6, 2017 |
| Senior-Loken syndrome 7 | 5 | Aug 3, 2021 |
| Senior-Loken syndrome 8 | 8 | May 2, 2022 |
| Senior-Loken syndrome 9 | 6 | Sep 6, 2016 |
| Sensorineural deafness and migraine | 1 | Aug 23, 2002 |
| Sensorineural deafness with mild renal dysfunction | 2 | Mar 3, 2021 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 5 | Oct 11, 2016 |
| Sepsis, susceptibility to | 1 | May 4, 2010 |
| Septo-optic dysplasia sequence | 3 | Mar 4, 2021 |
| Serotonin transporter activity, increased/decreased | 1 | Jul 9, 2019 |
| Serum calcium level | 1 | Jul 25, 2018 |
| Sessile serrated polyposis cancer syndrome | 2 | Jul 19, 2017 |
| Severe X-linked intellectual disability, Gustavson type | 1 | Jan 30, 2024 |
| Severe X-linked mitochondrial encephalomyopathy | 4 | Dec 10, 2019 |
| Severe X-linked myotubular myopathy | 12 | Aug 25, 2020 |
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 1 | Oct 18, 2017 |
| Severe acute respiratory syndrome, progression of | 1 | Mar 18, 2022 |
| Severe combined immunodeficiency due to CARD11 deficiency | 2 | Aug 22, 2017 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 8 | Oct 1, 2018 |
| Severe combined immunodeficiency due to CD70 deficiency | 3 | Jan 10, 2019 |
| Severe combined immunodeficiency due to CORO1A deficiency | 3 | Aug 17, 2015 |
| Severe combined immunodeficiency due to CTPS1 deficiency | 1 | Aug 19, 2016 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 10 | Sep 14, 2016 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 2 | Aug 5, 2020 |
| Severe combined immunodeficiency due to IKK2 deficiency | 2 | Nov 28, 2018 |
| Severe combined immunodeficiency due to LAT deficiency | 2 | Jun 5, 2017 |
| Severe combined immunodeficiency due to LCK deficiency | 5 | Mar 26, 2024 |
| Severe combined immunodeficiency, B cell-negative | 11 | May 4, 2021 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 18 | May 28, 2015 |
| Severe combined immunodeficiency, partial | 2 | Sep 14, 2016 |
| Severe congenital hypochromic anemia with ringed sideroblasts | 1 | Aug 15, 2019 |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 2 | Nov 1, 2013 |
| Severe early-childhood-onset retinal dystrophy | 25 | May 1, 2020 |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 5 | Aug 20, 2019 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 8 | Jan 8, 2020 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 2 | Nov 25, 2020 |
| Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | 1 | Feb 18, 2016 |
| Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | 1 | Feb 17, 2016 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 10 | Oct 22, 2020 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 7 | Mar 18, 2019 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 6 | Jun 21, 2023 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 3 | Jan 10, 2019 |
| Severe myoclonic epilepsy in infancy | 10 | Oct 9, 2020 |
| Severe neonatal-onset encephalopathy with microcephaly | 5 | Feb 26, 2018 |
| Severe neurodegenerative syndrome with lipodystrophy | 3 | Aug 9, 2018 |
| Sex cord-stromal tumor | 2 | Sep 26, 2017 |
| Sezary syndrome | 1 | Sep 26, 2016 |
| Shashi-Pena syndrome | 6 | Jan 25, 2018 |
| Short QT syndrome 7 | 1 | Jan 31, 2023 |
| Short QT syndrome type 1 | 2 | Apr 23, 2017 |
| Short QT syndrome type 2 | 3 | Feb 9, 2017 |
| Short QT syndrome type 3 | 3 | Jan 2, 2024 |
| Short sleep, familial natural, 1 | 2 | Mar 17, 2020 |
| Short stature and advanced bone age | 4 | Dec 18, 2017 |
| Short stature and advanced bone age, with early-onset osteoarthritis | 4 | Sep 28, 2017 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 3 | Sep 28, 2017 |
| Short stature and microcephaly with genital anomalies | 1 | Dec 16, 2019 |
| Short stature due to growth hormone qualitative anomaly | 3 | Aug 12, 2016 |
| Short stature due to growth hormone secretagogue receptor deficiency | 3 | Aug 18, 2015 |
| Short stature due to partial GHR deficiency | 5 | Jan 4, 2018 |
| Short stature due to primary acid-labile subunit deficiency | 3 | Aug 18, 2015 |
| Short stature with nonspecific skeletal abnormalities | 6 | Sep 26, 2024 |
| Short stature, Dauber-Argente type | 3 | Aug 17, 2021 |
| Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | 5 | Mar 19, 2019 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 4 | Feb 15, 2021 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 5 | Feb 15, 2021 |
| Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | 2 | Oct 1, 2021 |
| Short stature, microcephaly, and endocrine dysfunction | 9 | Sep 7, 2016 |
| Short stature, oligodontia, dysmorphic facies, and motor delay | 3 | Mar 17, 2021 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 7 | Sep 6, 2022 |
| Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | 3 | Apr 10, 2014 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 7 | Jul 4, 2020 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 2 | Dec 5, 2012 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | Jun 6, 2021 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 6 | Apr 5, 2018 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 3 | Nov 2, 2017 |
| Short-rib thoracic dysplasia 10 with polydactyly | 2 | Nov 2, 2017 |
| Short-rib thoracic dysplasia 10 without polydactyly | 7 | Nov 2, 2017 |
| Short-rib thoracic dysplasia 11 with or without polydactyly | 9 | Oct 21, 2016 |
| Short-rib thoracic dysplasia 13 with or without polydactyly | 3 | Nov 6, 2017 |
| Short-rib thoracic dysplasia 14 with polydactyly | 2 | Feb 4, 2016 |
| Short-rib thoracic dysplasia 15 with polydactyly | 12 | May 20, 2021 |
| Short-rib thoracic dysplasia 16 with or without polydactyly | 6 | Nov 4, 2020 |
| Short-rib thoracic dysplasia 17 with or without polydactyly | 3 | Mar 26, 2017 |
| Short-rib thoracic dysplasia 18 with polydactyly | 2 | Feb 5, 2018 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 2 | Oct 8, 2021 |
| Short-rib thoracic dysplasia 20 with polydactyly | 2 | Jul 16, 2019 |
| Short-rib thoracic dysplasia 21 without polydactyly | 6 | Oct 7, 2021 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 7 | Jun 19, 2018 |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 4 | Feb 6, 2018 |
| Short-rib thoracic dysplasia 7/20 with polydactyly, digenic | 2 | Apr 2, 2018 |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 3 | Oct 24, 2016 |
| Short-rib thoracic dysplasia without polydactyly | 2 | Nov 22, 2017 |
| Shprintzen-Goldberg syndrome | 10 | Feb 16, 2018 |
| Shukla-Vernon syndrome | 4 | Jul 25, 2019 |
| Shwachman-Diamond syndrome 1 | 4 | Mar 29, 2021 |
| Shwachman-Diamond syndrome 2 | 10 | Apr 18, 2022 |
| Sialic acid storage disease, severe infantile type | 6 | Jul 22, 2015 |
| Sialidosis type 1 | 4 | Aug 15, 2018 |
| Sialidosis type 2 | 12 | Jun 7, 2019 |
| Sialuria | 3 | Jan 2, 2014 |
| Sick sinus syndrome 1 | 4 | Jan 12, 2017 |
| Sick sinus syndrome 2, autosomal dominant | 8 | Sep 9, 2021 |
| Sick sinus syndrome 3, susceptibility to | 1 | Jan 9, 2020 |
| Sick sinus syndrome 4 | 1 | Aug 31, 2021 |
| Sickle cell-Hemoglobin O Arab disease | 1 | Dec 12, 2017 |
| Siddiqi syndrome | 4 | Oct 24, 2019 |
| Sideroblastic anemia 1, late-onset | 2 | Mar 16, 2016 |
| Sideroblastic anemia 2 | 5 | Mar 17, 2016 |
| Sideroblastic anemia 3 | 5 | May 28, 2020 |
| Sifrim-Hitz-Weiss syndrome | 6 | Jul 12, 2021 |
| Silver-Russell syndrome 3 | 5 | Jun 12, 2020 |
| Silver-Russell syndrome 5 | 4 | Jun 12, 2020 |
| Silver-russell syndrome 4 | 2 | Jun 15, 2020 |
| Simpson-Golabi-Behmel syndrome type 1 | 9 | Jun 29, 2020 |
| Simpson-Golabi-Behmel syndrome type 2 | 1 | Jan 28, 2020 |
| Singleton-Merten syndrome 1 | 4 | May 31, 2023 |
| Singleton-Merten syndrome 2 | 2 | Jul 14, 2020 |
| Sinoatrial node disorder | 1 | Nov 9, 2016 |
| Sinoatrial node dysfunction and deafness | 1 | Mar 28, 2013 |
| Sitosterolemia 1 | 10 | Jul 16, 2020 |
| Sitosterolemia 2 | 8 | Jul 17, 2020 |
| Sjögren-Larsson syndrome | 9 | Jun 16, 2017 |
| Skeletal defects, genital hypoplasia, and intellectual disability | 1 | Jan 12, 2022 |
| Skeletal dysplasia with acanthosis nigricans | 1 | Jul 20, 2016 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 5 | May 1, 2020 |
| Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 2 | Jul 20, 2021 |
| Skin creases, congenital symmetric circumferential, 2 | 4 | Jan 6, 2016 |
| Skin/hair/eye pigmentation 2, blond hair/fair skin | 2 | Jan 19, 2018 |
| Skin/hair/eye pigmentation 2, red hair/fair skin | 4 | Jan 19, 2018 |
| Skin/hair/eye pigmentation 3, blue/green eyes | 1 | Feb 3, 2020 |
| Skin/hair/eye pigmentation, variation in, 10 | 2 | May 18, 2012 |
| Skin/hair/eye pigmentation, variation in, 11 | 1 | Aug 19, 2015 |
| Skin/hair/eye pigmentation, variation in, 4 | 2 | Feb 17, 2021 |
| Skin/hair/eye pigmentation, variation in, 8 | 1 | Jul 21, 2015 |
| Skraban-Deardorff syndrome | 6 | Aug 16, 2017 |
| Slow acetylator due to N-acetyltransferase enzyme variant | 5 | Feb 16, 2010 |
| Small cell lung carcinoma | 1 | Mar 14, 2013 |
| Small fiber neuropathy | 5 | May 26, 2020 |
| Smith-Lemli-Opitz syndrome | 21 | Oct 12, 2015 |
| Smith-Magenis syndrome | 7 | Jun 21, 2017 |
| Smith-McCort dysplasia 1 | 3 | Jul 13, 2015 |
| Smith-McCort dysplasia 2 | 6 | Jan 5, 2018 |
| Smoking as a quantitative trait locus 3 | 2 | Jun 13, 2017 |
| Sneddon syndrome | 4 | Jun 16, 2021 |
| Snijders Blok-Campeau syndrome | 7 | May 12, 2023 |
| Snijders blok-fisher syndrome | 6 | Jan 3, 2020 |
| Snowflake vitreoretinal degeneration | 1 | Jun 18, 2015 |
| Sodium serum level quantitative trait locus 1 | 1 | Mar 2, 2017 |
| Solitary median maxillary central incisor syndrome | 3 | Sep 21, 2018 |
| Soluble interleukin-6 receptor, serum level of, quantitative trait locus | 1 | Nov 26, 2012 |
| Somatotroph adenoma | 8 | Sep 14, 2020 |
| Sorsby fundus dystrophy | 5 | Aug 7, 2015 |
| Sotos syndrome | 13 | Jan 26, 2022 |
| Southeast Asian ovalocytosis | 1 | Aug 27, 2020 |
| Spastic ataxia 1 | 1 | Feb 18, 2019 |
| Spastic ataxia 10, autosomal recessive | 13 | Jan 11, 2024 |
| Spastic ataxia 2 | 4 | Jan 5, 2018 |
| Spastic ataxia 3 | 3 | Jun 23, 2015 |
| Spastic ataxia 4 | 1 | Jan 30, 2015 |
| Spastic ataxia 5 | 7 | Jul 17, 2024 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 6 | May 22, 2024 |
| Spastic ataxia 9, autosomal recessive | 1 | Feb 25, 2022 |
| Spastic paraplegia 18a, autosomal dominant | 2 | Oct 12, 2023 |
| Spastic paraplegia 30b, autosomal recessive | 2 | Jan 11, 2021 |
| Spastic paraplegia 4, modifier of | 2 | Oct 8, 2019 |
| Spastic paraplegia 52, autosomal recessive | 3 | Jun 21, 2018 |
| Spastic paraplegia 70, autosomal recessive | 4 | Apr 19, 2023 |
| Spastic paraplegia 72b, autosomal recessive | 2 | Aug 24, 2015 |
| Spastic paraplegia 79A, autosomal dominant, with ataxia | 5 | Jan 27, 2023 |
| Spastic paraplegia 80, autosomal dominant | 8 | Sep 10, 2019 |
| Spastic paraplegia 81, autosomal recessive | 4 | Aug 18, 2023 |
| Spastic paraplegia 82, autosomal recessive | 5 | Feb 23, 2024 |
| Spastic paraplegia 83, autosomal recessive | 1 | Aug 17, 2021 |
| Spastic paraplegia 84, autosomal recessive | 4 | Nov 22, 2021 |
| Spastic paraplegia 85, autosomal recessive | 3 | Jan 5, 2022 |
| Spastic paraplegia 86, autosomal recessive | 6 | Feb 9, 2022 |
| Spastic paraplegia 87, autosomal recessive | 4 | Jul 27, 2022 |
| Spastic paraplegia 88, autosomal dominant | 5 | Nov 2, 2022 |
| Spastic paraplegia 89, autosomal recessive | 5 | May 25, 2023 |
| Spastic paraplegia 90A, autosomal dominant | 1 | Jun 14, 2023 |
| Spastic paraplegia 90B, autosomal recessive | 1 | Jun 14, 2023 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 2 | Oct 17, 2023 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 4 | Aug 31, 2021 |
| Spastic paraplegia, optic atropy, and neuropathy | 1 | May 31, 2019 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 8 | Feb 4, 2016 |
| Spastic tetraplegia and axial hypotonia, progressive | 2 | Aug 25, 2022 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 5 | Jul 1, 2020 |
| Spasticity-ataxia-gait anomalies syndrome | 2 | Jul 26, 2018 |
| Specific granule deficiency 1 | 5 | Sep 15, 2022 |
| Specific granule deficiency 2 | 5 | Apr 26, 2022 |
| Specific language impairment 5 | 1 | Sep 26, 2019 |
| Spermatocytic seminoma | 2 | Jun 11, 2019 |
| Spermatogenic failure 10 | 3 | Apr 9, 2013 |
| Spermatogenic failure 11 | 3 | Oct 4, 2016 |
| Spermatogenic failure 12 | 3 | Sep 16, 2013 |
| Spermatogenic failure 13 | 1 | Jul 2, 2020 |
| Spermatogenic failure 14 | 1 | Aug 14, 2015 |
| Spermatogenic failure 15 | 1 | Jul 15, 2021 |
| Spermatogenic failure 16 | 6 | Nov 7, 2016 |
| Spermatogenic failure 17 | 8 | Aug 31, 2023 |
| Spermatogenic failure 18 | 5 | May 3, 2018 |
| Spermatogenic failure 19 | 11 | Sep 26, 2019 |
| Spermatogenic failure 2 | 7 | Jul 1, 2022 |
| Spermatogenic failure 20 | 6 | Dec 23, 2019 |
| Spermatogenic failure 21 | 1 | Aug 28, 2017 |
| Spermatogenic failure 22 | 6 | Jan 22, 2024 |
| Spermatogenic failure 23 | 2 | Jun 28, 2019 |
| Spermatogenic failure 24 | 4 | May 3, 2019 |
| Spermatogenic failure 25 | 4 | May 4, 2018 |
| Spermatogenic failure 26 | 1 | May 4, 2018 |
| Spermatogenic failure 27 | 1 | Aug 29, 2018 |
| Spermatogenic failure 28 | 5 | Jan 15, 2019 |
| Spermatogenic failure 29 | 1 | Aug 31, 2018 |
| Spermatogenic failure 3 | 6 | May 3, 2022 |
| Spermatogenic failure 30 | 1 | Sep 11, 2018 |
| Spermatogenic failure 31 | 5 | Mar 12, 2019 |
| Spermatogenic failure 32 | 1 | Sep 11, 2018 |
| Spermatogenic failure 33 | 4 | Oct 22, 2018 |
| Spermatogenic failure 34 | 11 | Aug 25, 2023 |
| Spermatogenic failure 35 | 4 | Jul 31, 2020 |
| Spermatogenic failure 36 | 3 | May 8, 2019 |
| Spermatogenic failure 37 | 5 | May 14, 2019 |
| Spermatogenic failure 38 | 5 | May 15, 2019 |
| Spermatogenic failure 39 | 7 | Jul 27, 2022 |
| Spermatogenic failure 4 | 3 | Feb 12, 2016 |
| Spermatogenic failure 40 | 4 | Jul 21, 2020 |
| Spermatogenic failure 41 | 1 | Nov 21, 2019 |
| Spermatogenic failure 42 | 6 | Jan 24, 2020 |
| Spermatogenic failure 43 | 7 | Jan 27, 2020 |
| Spermatogenic failure 44 | 3 | Oct 12, 2020 |
| Spermatogenic failure 45 | 5 | Nov 12, 2020 |
| Spermatogenic failure 46 | 6 | Nov 13, 2020 |
| Spermatogenic failure 47 | 2 | Nov 17, 2020 |
| Spermatogenic failure 48 | 5 | Nov 20, 2020 |
| Spermatogenic failure 49 | 5 | Dec 29, 2020 |
| Spermatogenic failure 51 | 2 | Feb 8, 2021 |
| Spermatogenic failure 52 | 3 | Feb 23, 2021 |
| Spermatogenic failure 53 | 3 | Apr 1, 2021 |
| Spermatogenic failure 54 | 1 | Jun 16, 2021 |
| Spermatogenic failure 55 | 1 | Jun 16, 2021 |
| Spermatogenic failure 56 | 3 | Sep 7, 2021 |
| Spermatogenic failure 57 | 6 | May 12, 2022 |
| Spermatogenic failure 58 | 1 | Oct 22, 2021 |
| Spermatogenic failure 59 | 2 | Dec 2, 2021 |
| Spermatogenic failure 60 | 3 | Dec 2, 2021 |
| Spermatogenic failure 61 | 5 | Dec 23, 2021 |
| Spermatogenic failure 62 | 1 | Dec 20, 2021 |
| Spermatogenic failure 63 | 1 | Jan 4, 2022 |
| Spermatogenic failure 64 | 2 | Jan 6, 2022 |
| Spermatogenic failure 65 | 6 | Jan 19, 2022 |
| Spermatogenic failure 66 | 1 | Mar 17, 2022 |
| Spermatogenic failure 67 | 1 | Mar 21, 2022 |
| Spermatogenic failure 68 | 1 | Mar 21, 2022 |
| Spermatogenic failure 69 | 2 | Apr 5, 2022 |
| Spermatogenic failure 7 | 2 | Aug 10, 2016 |
| Spermatogenic failure 70 | 1 | Apr 6, 2022 |
| Spermatogenic failure 71 | 2 | Apr 8, 2022 |
| Spermatogenic failure 72 | 1 | May 2, 2022 |
| Spermatogenic failure 73 | 3 | May 11, 2022 |
| Spermatogenic failure 74 | 3 | Jun 28, 2022 |
| Spermatogenic failure 75 | 7 | Jul 6, 2022 |
| Spermatogenic failure 76 | 2 | Oct 17, 2022 |
| Spermatogenic failure 77 | 5 | Oct 26, 2022 |
| Spermatogenic failure 78 | 2 | Dec 16, 2022 |
| Spermatogenic failure 79 | 3 | Feb 2, 2023 |
| Spermatogenic failure 8 | 3 | Aug 9, 2016 |
| Spermatogenic failure 80 | 2 | Jan 25, 2023 |
| Spermatogenic failure 81 | 3 | Mar 7, 2023 |
| Spermatogenic failure 82 | 2 | Apr 27, 2023 |
| Spermatogenic failure 83 | 2 | Aug 30, 2024 |
| Spermatogenic failure 84 | 7 | Jun 2, 2023 |
| Spermatogenic failure 85 | 1 | Aug 25, 2023 |
| Spermatogenic failure 86 | 5 | Aug 31, 2023 |
| Spermatogenic failure 87 | 1 | Aug 31, 2023 |
| Spermatogenic failure 88 | 5 | Oct 23, 2023 |
| Spermatogenic failure 89 | 4 | Feb 5, 2024 |
| Spermatogenic failure 9 | 8 | Apr 5, 2022 |
| Spermatogenic failure 90 | 3 | Mar 1, 2024 |
| Spermatogenic failure 91 | 5 | May 24, 2024 |
| Spermatogenic failure 92 | 2 | Jun 3, 2024 |
| Spermatogenic failure 93 | 1 | Jun 5, 2024 |
| Spermatogenic failure 94 | 2 | Jun 11, 2024 |
| Spermatogenic failure, X-linked, 2 | 4 | Jun 19, 2015 |
| Spermatogenic failure, X-linked, 3 | 4 | Mar 10, 2023 |
| Spermatogenic failure, X-linked, 4 | 4 | Apr 11, 2022 |
| Spermatogenic failure, X-linked, 5 | 3 | Mar 16, 2023 |
| Spermatogenic failure, X-linked, 6 | 2 | Mar 16, 2023 |
| Spermatogenic failure, X-linked, 7 | 1 | Apr 25, 2023 |
| Spermatogenic failure, Y-linked, 2 | 1 | Aug 9, 2012 |
| Spermatogenic failure, susceptibility to | 1 | Jan 5, 2010 |
| Spermatogenic failure, x-linked, 8 | 1 | May 24, 2024 |
| Spermatogenic failures 50 | 1 | Dec 30, 2020 |
| Spherocytosis, type 1, autosomal recessive | 5 | Aug 19, 2021 |
| Spherocytosis, type 3, autosomal recessive | 1 | Nov 18, 2015 |
| Sphingolipid activator protein 1 deficiency | 7 | Oct 26, 2021 |
| Spina bifida, folate-sensitive, susceptibility to | 1 | Aug 11, 2020 |
| Spina bifida, susceptibility to | 1 | Jun 22, 2017 |
| Spinal muscular atrophy with congenital bone fractures 1 | 2 | Aug 10, 2016 |
| Spinal muscular atrophy with congenital bone fractures 2 | 5 | Feb 20, 2020 |
| Spinal muscular atrophy, distal, autosomal recessive, 6 | 3 | Oct 17, 2023 |
| Spinal muscular atrophy, infantile, James type | 4 | Oct 15, 2020 |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 3 | Jan 30, 2019 |
| Spinal muscular atrophy, modifier of | 1 | Jun 26, 2017 |
| Spinal muscular atrophy, type II | 7 | Jun 23, 2017 |
| Spinal muscular atrophy, type IV | 1 | Apr 11, 2013 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 4 | Oct 4, 2021 |
| Spinocerebellar ataxia 27A | 5 | Oct 13, 2022 |
| Spinocerebellar ataxia 27B, late-onset | 1 | Dec 23, 2022 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 2 | Aug 14, 2018 |
| Spinocerebellar ataxia 43 | 1 | Oct 6, 2016 |
| Spinocerebellar ataxia 44 | 3 | Sep 26, 2017 |
| Spinocerebellar ataxia 45 | 2 | Nov 16, 2017 |
| Spinocerebellar ataxia 46 | 1 | Jun 27, 2019 |
| Spinocerebellar ataxia 47 | 1 | Jan 27, 2021 |
| Spinocerebellar ataxia 48 | 5 | Aug 11, 2021 |
| Spinocerebellar ataxia 49 | 1 | Apr 8, 2022 |
| Spinocerebellar ataxia 50 | 4 | Dec 20, 2022 |
| Spinocerebellar ataxia 7 | 1 | Nov 7, 2019 |
| Spinocerebellar ataxia 7 | 1 | Nov 7, 2019 |
| Spinocerebellar ataxia type 1 | 1 | Oct 31, 2019 |
| Spinocerebellar ataxia type 10 | 1 | Oct 31, 2019 |
| Spinocerebellar ataxia type 11 | 2 | May 30, 2012 |
| Spinocerebellar ataxia type 12 | 1 | Oct 31, 2019 |
| Spinocerebellar ataxia type 13 | 3 | Jul 20, 2016 |
| Spinocerebellar ataxia type 14 | 11 | Jul 30, 2021 |
| Spinocerebellar ataxia type 15/16 | 2 | Jul 20, 2016 |
| Spinocerebellar ataxia type 17 | 1 | Oct 31, 2019 |
| Spinocerebellar ataxia type 19/22 | 4 | Nov 7, 2023 |
| Spinocerebellar ataxia type 2 | 1 | Oct 31, 2019 |
| Spinocerebellar ataxia type 21 | 5 | Dec 2, 2014 |
| Spinocerebellar ataxia type 23 | 4 | Dec 20, 2010 |
| Spinocerebellar ataxia type 25 | 2 | Jul 11, 2022 |
| Spinocerebellar ataxia type 26 | 1 | Aug 9, 2016 |
| Spinocerebellar ataxia type 28 | 9 | Jan 5, 2018 |
| Spinocerebellar ataxia type 29 | 3 | Dec 20, 2022 |
| Spinocerebellar ataxia type 31 | 2 | Nov 1, 2019 |
| Spinocerebellar ataxia type 34 | 2 | Jun 30, 2017 |
| Spinocerebellar ataxia type 35 | 5 | May 8, 2015 |
| Spinocerebellar ataxia type 36 | 1 | Oct 31, 2019 |
| Spinocerebellar ataxia type 37 | 1 | Sep 11, 2019 |
| Spinocerebellar ataxia type 38 | 2 | May 24, 2017 |
| Spinocerebellar ataxia type 4 | 1 | Dec 15, 2023 |
| Spinocerebellar ataxia type 40 | 1 | Mar 20, 2019 |
| Spinocerebellar ataxia type 41 | 1 | Jun 5, 2015 |
| Spinocerebellar ataxia type 42 | 1 | Aug 14, 2018 |
| Spinocerebellar ataxia type 5 | 4 | Jul 20, 2016 |
| Spinocerebellar ataxia type 6 | 4 | Aug 24, 2020 |
| Spinocerebellar ataxia type 8 | 2 | Jun 7, 2012 |
| Spinocerebellar ataxia with epilepsy | 3 | Oct 11, 2016 |
| Spinocerebellar ataxia, autosomal recessive 22 | 1 | Sep 22, 2016 |
| Spinocerebellar ataxia, autosomal recessive 23 | 2 | Oct 23, 2018 |
| Spinocerebellar ataxia, autosomal recessive 24 | 2 | Nov 19, 2020 |
| Spinocerebellar ataxia, autosomal recessive 25 | 1 | Dec 30, 2019 |
| Spinocerebellar ataxia, autosomal recessive 26 | 2 | Aug 22, 2017 |
| Spinocerebellar ataxia, autosomal recessive 27 | 3 | Mar 28, 2019 |
| Spinocerebellar ataxia, autosomal recessive 28 | 1 | Mar 12, 2020 |
| Spinocerebellar ataxia, autosomal recessive 29 | 6 | Jul 6, 2021 |
| Spinocerebellar ataxia, autosomal recessive 30 | 2 | Jul 6, 2021 |
| Spinocerebellar ataxia, autosomal recessive 31 | 7 | Jul 12, 2021 |
| Spinocerebellar ataxia, autosomal recessive 32 | 8 | Mar 31, 2023 |
| Spinocerebellar ataxia, autosomal recessive 33 | 1 | Jan 24, 2023 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 1 | Apr 15, 2019 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 11 | Apr 15, 2019 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 5 | Apr 18, 2019 |
| Split hand-foot malformation 1 | 2 | Oct 14, 2014 |
| Split hand-foot malformation 1 with sensorineural hearing loss | 1 | Jun 8, 2016 |
| Split hand-foot malformation 4 | 3 | Jan 5, 2018 |
| Split hand-foot malformation 6 | 3 | Oct 7, 2019 |
| Split-foot malformation-mesoaxial polydactyly syndrome | 2 | Nov 7, 2017 |
| Sponastrime dysplasia | 11 | Jul 24, 2019 |
| Spondylo-megaepiphyseal-metaphyseal dysplasia | 4 | Apr 22, 2019 |
| Spondylo-ocular syndrome | 2 | Apr 12, 2017 |
| Spondyloarthropathy, susceptibility to, 1 | 1 | Apr 25, 2017 |
| Spondylocarpotarsal synostosis syndrome | 6 | Jun 5, 2019 |
| Spondylocostal dysostosis 1, autosomal recessive | 8 | Nov 12, 2020 |
| Spondylocostal dysostosis 2, autosomal recessive | 4 | Oct 3, 2016 |
| Spondylocostal dysostosis 3, autosomal recessive | 3 | Feb 28, 2019 |
| Spondylocostal dysostosis 4, autosomal recessive | 4 | Oct 7, 2016 |
| Spondylocostal dysostosis 5 | 6 | Mar 23, 2020 |
| Spondylocostal dysostosis 6, autosomal recessive | 2 | Feb 2, 2016 |
| Spondyloenchondrodysplasia with immune dysregulation | 10 | Aug 25, 2017 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | 4 | Mar 17, 2021 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 6 | Aug 4, 2016 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 2 | Apr 17, 2019 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 4 | Apr 11, 2019 |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 4 | Dec 2, 2019 |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 8 | Jun 20, 2017 |
| Spondyloepimetaphyseal dysplasia, Guo-Campeau type | 7 | Dec 21, 2023 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 4 | Jan 7, 2020 |
| Spondyloepimetaphyseal dysplasia, Krakow type | 1 | Apr 15, 2020 |
| Spondyloepimetaphyseal dysplasia, Maroteaux type | 5 | Sep 7, 2021 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 1 | Sep 18, 2020 |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 8 | Oct 2, 2017 |
| Spondyloepimetaphyseal dysplasia, Shohat type | 1 | Jan 10, 2018 |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 5 | Mar 2, 2017 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 3 | Feb 19, 2019 |
| Spondyloepimetaphyseal dysplasia, di rocco type | 2 | Sep 1, 2022 |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 2 | Apr 28, 2021 |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 5 | Sep 27, 2016 |
| Spondyloepiphyseal dysplasia congenita | 6 | Jul 13, 2017 |
| Spondyloepiphyseal dysplasia tarda | 11 | Apr 25, 2014 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 13 | May 3, 2016 |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 1 | Mar 25, 2021 |
| Spondyloepiphyseal dysplasia, Kimberley type | 1 | Feb 19, 2019 |
| Spondyloepiphyseal dysplasia, Stanescu type | 2 | Nov 8, 2017 |
| Spondyloepiphyseal dysplasia, kondo-fu type | 2 | Nov 20, 2020 |
| Spondyloepiphyseal dysplasia, nishimura type | 1 | Oct 9, 2019 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 2 | Apr 9, 2021 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 4 | Sep 30, 2021 |
| Spondylometaphyseal dysplasia with corneal dystrophy | 1 | Apr 18, 2022 |
| Spondylometaphyseal dysplasia, Kozlowski type | 5 | Sep 7, 2021 |
| Spondylometaphyseal dysplasia, Sedaghatian type | 3 | Aug 4, 2016 |
| Spondylometaphyseal dysplasia, pagnamenta type | 1 | Jan 19, 2022 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 9 | Jul 8, 2020 |
| Spondyloperipheral dysplasia | 4 | Mar 2, 2017 |
| Spongiform encephalopathy with neuropsychiatric features | 4 | Feb 19, 2018 |
| Spongy degeneration of central nervous system | 11 | Dec 3, 2019 |
| Sporadic hemiplegic migraine | 1 | Aug 24, 2020 |
| Sprinting performance | 1 | May 14, 2021 |
| Squalene synthase deficiency | 3 | Oct 25, 2018 |
| Squamous cell carcinoma of the head and neck | 5 | Mar 6, 2017 |
| Squamous cell lung carcinoma | 1 | Feb 6, 2013 |
| Stankiewicz-Isidor syndrome | 4 | Jun 8, 2017 |
| Stapes ankylosis with broad thumbs and toes | 3 | Mar 15, 2019 |
| Stargardt disease | 3 | Dec 29, 2016 |
| Stargardt disease 3 | 3 | Jan 2, 2018 |
| Stargardt disease 4 | 3 | Jun 30, 2020 |
| Statins, attenuated cholesterol lowering by | 1 | Mar 17, 2015 |
| Steatocystoma multiplex | 3 | Oct 10, 2016 |
| Steel syndrome | 4 | Mar 7, 2019 |
| Steinert myotonic dystrophy syndrome | 1 | Nov 8, 2019 |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 4 | Nov 11, 2020 |
| Sterol carrier protein 2 deficiency | 1 | May 22, 2017 |
| Stevens-Johnson syndrome, susceptibility to | 2 | Apr 25, 2017 |
| Stickler syndrome type 1 | 10 | May 16, 2017 |
| Stickler syndrome type 2 | 2 | Aug 12, 2019 |
| Stickler syndrome, type 4 | 2 | Jul 13, 2017 |
| Stickler syndrome, type 5 | 1 | Dec 6, 2017 |
| Stickler syndrome, type 6 | 8 | Aug 29, 2022 |
| Stickler syndrome, type I, nonsyndromic ocular | 7 | Aug 15, 2018 |
| Stiff skin syndrome | 5 | Dec 7, 2016 |
| Stormorken syndrome | 2 | Feb 2, 2017 |
| Striatal degeneration, autosomal dominant 2 | 2 | Apr 29, 2016 |
| Striatal necrosis, bilateral, with dystonia | 1 | May 24, 2011 |
| Striatonigral degeneration, childhood-onset | 4 | Jul 28, 2016 |
| Striatonigral degeneration, infantile, mitochondrial | 2 | Jan 29, 2019 |
| Stromme syndrome | 7 | Feb 27, 2019 |
| Structural brain anomalies with impaired intellectual development and craniosynostosis | 4 | Jan 14, 2020 |
| Structural heart defects and renal anomalies syndrome | 5 | Nov 5, 2021 |
| Sturge-Weber syndrome | 1 | Dec 23, 2019 |
| Stuttering, familial persistent, 1 | 1 | Sep 18, 2018 |
| Stuttering, familial persistent, 2 | 2 | Jun 5, 2012 |
| Stuve-Wiedemann syndrome | 6 | Feb 16, 2022 |
| Stuve-Wiedemann syndrome 2 | 2 | Feb 16, 2022 |
| Subcortical band heterotopia | 3 | Mar 21, 2013 |
| Subcortical laminar heterotopia, X-linked | 14 | Dec 19, 2019 |
| Subcutaneous panniculitis-like T-cell lymphoma | 3 | Apr 24, 2019 |
| Sublingual nitroglycerin, susceptibility to poor response to | 1 | Feb 12, 2021 |
| Succinate-semialdehyde dehydrogenase deficiency | 7 | Dec 23, 2021 |
| Succinyl-CoA acetoacetate transferase deficiency | 7 | May 22, 2015 |
| Sucrase-isomaltase deficiency | 8 | Feb 10, 2022 |
| Sudden cardiac failure, alcohol-induced | 2 | Nov 23, 2016 |
| Sudden cardiac failure, infantile | 7 | Nov 23, 2016 |
| Sudden death | 1 | Jan 6, 2005 |
| Sudden infant death-dysgenesis of the testes syndrome | 2 | Oct 21, 2021 |
| Suleiman-El-Hattab syndrome | 3 | Jul 28, 2020 |
| Sulfide quinone oxidoreductase deficiency | 2 | Mar 5, 2021 |
| Sulfite oxidase deficiency | 6 | Dec 29, 2020 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 6 | May 14, 2024 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 9 | Feb 17, 2017 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2 | Nov 5, 2013 |
| Superoxide dismutase, elevated extracellular | 1 | Dec 20, 2012 |
| Supranuclear palsy, progressive, 1 | 4 | May 6, 2021 |
| Supravalvar aortic stenosis | 13 | Jan 10, 2020 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 5 | Aug 30, 2016 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 8 | Jan 5, 2018 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 2 | Jul 21, 2017 |
| Surfactant metabolism dysfunction, pulmonary, 5 | 2 | Dec 9, 2014 |
| Susceptibility to HIV infection | 12 | Mar 4, 2021 |
| Susceptibility to angioedema induced by ACE inhibitors | 1 | Nov 22, 2013 |
| Susceptibility to hangover | 1 | Feb 12, 2021 |
| Susceptibility to leprosy and multibacillary leprosy | 1 | Sep 12, 2013 |
| Susceptibility to mononeuropathy of the median nerve, mild | 2 | Aug 12, 2020 |
| Susceptibility to neovascular type of age-related macular degeneration | 1 | Feb 18, 2015 |
| Susceptibility to progression to renal failure in IgA nephropathy | 1 | Mar 18, 2022 |
| Susceptibility to respiratory infections associated with CD8alpha chain mutation | 1 | Oct 18, 2010 |
| Susceptibility to severe cutaneous adverse reaction | 2 | Apr 25, 2017 |
| Sweat chloride elevation without cystic fibrosis | 1 | Feb 13, 2013 |
| Sweeney-Cox syndrome | 2 | Oct 26, 2017 |
| Symmetrical dyschromatosis of extremities | 7 | Oct 14, 2019 |
| Symphalangism, proximal, 1B | 3 | Apr 3, 2020 |
| Symphalangism-brachydactyly syndrome | 5 | Mar 15, 2019 |
| Syndactyly type 3 | 1 | Jun 13, 2017 |
| Syndactyly type 4 | 2 | Oct 4, 2016 |
| Syndactyly type 5 | 2 | Feb 22, 2022 |
| Syndactyly type 8 | 3 | Nov 20, 2014 |
| Syndactyly-telecanthus-anogenital and renal malformations syndrome | 5 | May 1, 2017 |
| Syndromic X-linked intellectual disability 14 | 4 | Aug 20, 2021 |
| Syndromic X-linked intellectual disability 34 | 5 | Sep 12, 2022 |
| Syndromic X-linked intellectual disability 94 | 6 | Mar 18, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 10 | Jul 15, 2022 |
| Syndromic X-linked intellectual disability Hedera type | 3 | Aug 20, 2021 |
| Syndromic X-linked intellectual disability Lubs type | 1 | Aug 19, 2021 |
| Syndromic X-linked intellectual disability Najm type | 10 | Feb 12, 2024 |
| Syndromic X-linked intellectual disability Nascimento type | 3 | Aug 20, 2021 |
| Syndromic X-linked intellectual disability Raymond type | 6 | May 15, 2020 |
| Syndromic X-linked intellectual disability Shashi type | 1 | Aug 19, 2021 |
| Syndromic X-linked intellectual disability Siderius type | 5 | Jul 10, 2023 |
| Syndromic X-linked intellectual disability Snyder type | 5 | Aug 20, 2021 |
| Syndromic microphthalmia type 5 | 13 | Jan 31, 2018 |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 3 | Sep 8, 2020 |
| Synovitis, chronic, susceptibility to | 1 | Apr 25, 2017 |
| Synpolydactyly type 1 | 12 | Nov 8, 2019 |
| Systemic lupus erythematosus 17 | 3 | May 10, 2022 |
| Systemic lupus erythematosus, association with susceptibility to, 10 | 1 | Sep 30, 2019 |
| Systemic lupus erythematosus, resistance to, 1 | 1 | Nov 19, 2018 |
| Systemic lupus erythematosus, susceptibility to | 8 | Sep 5, 2020 |
| Systemic lupus erythematosus, susceptibility to, 10 | 3 | Sep 30, 2019 |
| Systemic lupus erythematosus, susceptibility to, 11 | 1 | Jun 23, 2016 |
| Systemic lupus erythematosus, susceptibility to, 9 | 1 | Jul 6, 2012 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 7 | Jul 22, 2015 |
| T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT | 1 | Nov 11, 2020 |
| T-cell acute lymphoblastic leukemia | 3 | Sep 26, 2016 |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 3 | Nov 11, 2020 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 6 | Nov 11, 2020 |
| T-cell prolymphocytic leukemia | 4 | Aug 27, 2020 |
| T-lymphocyte deficiency | 2 | Nov 11, 2020 |
| TAP1 deficiency, somatic | 1 | May 25, 2012 |
| TARP syndrome | 4 | Aug 31, 2020 |
| TCF12-related craniosynostosis | 8 | Jan 26, 2022 |
| TCR-alpha-beta-positive T-cell deficiency | 1 | Nov 19, 2021 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 6 | Sep 10, 2019 |
| TF*C2 | 1 | Dec 30, 2014 |
| TFRC-related combined immunodeficiency | 1 | Aug 13, 2018 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 9 | Nov 6, 2020 |
| THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | 1 | Jun 11, 2019 |
| THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC | 1 | Apr 29, 2015 |
| THYROID-ASSOCIATED ORBITOPATHY, SUSCEPTIBILITY TO | 1 | Sep 5, 2020 |
| THYROTROPIN RECEPTOR POLYMORPHISM | 1 | Apr 29, 2015 |
| TLR4 POLYMORPHISM | 2 | Aug 8, 2018 |
| TMEM165-congenital disorder of glycosylation | 4 | May 5, 2015 |
| TMEM199-CDG | 4 | Feb 29, 2016 |
| TNF receptor binding, altered | 2 | Apr 3, 2013 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 12 | Feb 21, 2020 |
| TRANSCOBALAMIN II POLYMORPHISM | 1 | Dec 3, 2019 |
| TRANSTHYRETIN POLYMORPHISM | 2 | Jun 14, 2018 |
| TUMOR PREDISPOSITION SYNDROME 4, BREAST | 1 | Nov 21, 2017 |
| TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE | 2 | Nov 21, 2017 |
| TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL | 2 | Jan 29, 2021 |
| TWIST1-related craniosynostosis | 2 | Sep 19, 2016 |
| TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO | 1 | Sep 5, 2020 |
| TYPE 1 DIABETES MELLITUS, INSULIN-DEPENDENT, 10 | 1 | Sep 3, 2020 |
| TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO | 1 | Sep 3, 2020 |
| TYPE 2 DIABETES MELLITUS, DIGENIC | 2 | Sep 4, 2020 |
| Tall stature-intellectual disability-renal anomalies syndrome | 2 | Sep 15, 2016 |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 4 | Oct 14, 2021 |
| Tan-Almurshedi syndrome | 4 | Dec 6, 2023 |
| Tangier disease | 16 | Feb 15, 2018 |
| Tangier disease, variant | 1 | Feb 15, 2018 |
| Taq1A POLYMORPHISM | 1 | May 24, 2018 |
| Tarsal-carpal coalition syndrome | 3 | Mar 15, 2019 |
| Tatton-Brown-Rahman overgrowth syndrome | 7 | Jan 2, 2020 |
| Taurodontism, microdontia, and dens invaginatus | 2 | Sep 18, 2023 |
| Tay-Sachs disease | 36 | Jul 28, 2021 |
| Tay-Sachs disease, B1 variant | 5 | Apr 6, 2018 |
| Tay-Sachs disease, variant AB | 6 | Oct 21, 2016 |
| Tay-sachs disease, juvenile | 1 | Nov 29, 2012 |
| Tay-sachs disease, juvenile/adult | 1 | Nov 29, 2012 |
| Teebi hypertelorism syndrome | 2 | Apr 7, 2022 |
| Teebi hypertelorism syndrome 1 | 7 | Apr 7, 2022 |
| Teebi hypertelorism syndrome 2 | 6 | Feb 1, 2022 |
| Tegafur response | 1 | Apr 26, 2013 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 9 | Nov 22, 2017 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 14 | Feb 6, 2019 |
| Telangiectasia, hereditary hemorrhagic, type 5 | 3 | Oct 31, 2013 |
| Telomere length, mean leukocyte | 1 | Aug 3, 2016 |
| Temperature-sensitive oculocutaneous albinism type 1 | 2 | Feb 3, 2020 |
| Temple-Baraitser syndrome | 4 | Sep 12, 2016 |
| Temtamy preaxial brachydactyly syndrome | 6 | Apr 14, 2016 |
| Temtamy syndrome | 3 | Jun 15, 2015 |
| Tenorio syndrome | 3 | Oct 31, 2016 |
| Terminal osseous dysplasia-pigmentary defects syndrome | 1 | Jul 1, 2020 |
| Tessadori-Van Haaften neurodevelopmental syndrome 3 | 5 | Jan 20, 2023 |
| Tessadori-Van Haaften neurodevelopmental syndrome 4 | 2 | Jan 20, 2023 |
| Tessadori-van Haaften neurodevelopmental syndrome 1 | 2 | Feb 24, 2022 |
| Tessadori-van Haaften neurodevelopmental syndrome 2 | 1 | Feb 22, 2022 |
| Testicular anomalies with or without congenital heart disease | 1 | Aug 7, 2018 |
| Testosterone 17-beta-dehydrogenase deficiency | 10 | May 31, 2018 |
| Tetraamelia syndrome 1 | 1 | Aug 15, 2018 |
| Tetraamelia syndrome 2 | 2 | Jun 22, 2018 |
| Tetralogy of Fallot | 16 | Apr 18, 2018 |
| Thalassemia intermedia | 1 | Dec 12, 2017 |
| Thalassemia, gamma-delta-beta | 1 | Jun 3, 2015 |
| Thanatophoric dysplasia type 1 | 10 | Oct 18, 2017 |
| Thanatophoric dysplasia, type 2 | 1 | Jun 11, 2019 |
| Thecoma, somatic | 2 | Apr 21, 2011 |
| Thiel-Behnke corneal dystrophy | 1 | Jul 30, 2015 |
| Thiopurine S-methyltransferase deficiency | 7 | May 15, 2019 |
| Thiopurines, poor metabolism of, 2 | 4 | Oct 25, 2016 |
| Thrombocythemia 1 | 5 | Nov 29, 2021 |
| Thrombocythemia 2 | 2 | Aug 21, 2020 |
| Thrombocythemia 2, somatic | 1 | Aug 21, 2020 |
| Thrombocythemia 3 | 2 | Jan 12, 2022 |
| Thrombocytopenia 1 | 5 | Jan 16, 2018 |
| Thrombocytopenia 10 | 2 | Aug 28, 2023 |
| Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | 5 | Dec 20, 2023 |
| Thrombocytopenia 13, syndromic | 6 | Apr 5, 2024 |
| Thrombocytopenia 2 | 4 | Nov 1, 2016 |
| Thrombocytopenia 3 | 2 | Apr 21, 2017 |
| Thrombocytopenia 4 | 3 | Jan 16, 2019 |
| Thrombocytopenia 5 | 4 | Nov 1, 2016 |
| Thrombocytopenia 6 | 1 | Oct 12, 2021 |
| Thrombocytopenia 7 | 5 | Aug 10, 2021 |
| Thrombocytopenia 8, with dysmorphic features and developmental delay | 5 | Aug 24, 2023 |
| Thrombocytopenia 9 | 4 | Aug 24, 2023 |
| Thrombocytopenia, X-linked, intermittent | 2 | Jan 16, 2018 |
| Thrombocytopenia, X-linked, with dyserythropoietic anemia | 2 | Dec 20, 2016 |
| Thrombocytopenia, X-linked, without dyserythropoietic anemia | 2 | Dec 20, 2016 |
| Thrombocytopenia, anemia, and myelofibrosis | 1 | Apr 21, 2017 |
| Thrombomodulin-related bleeding disorder | 6 | Dec 12, 2017 |
| Thrombophilia due to activated protein C resistance | 4 | Feb 12, 2019 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 14 | Oct 21, 2016 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 12 | Oct 21, 2016 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 8 | Sep 29, 2016 |
| Thrombophilia due to protein S deficiency, autosomal recessive | 3 | Dec 20, 2017 |
| Thrombophilia due to thrombin defect | 2 | May 31, 2018 |
| Thrombophilia, X-linked, due to factor 8 defect | 1 | Aug 14, 2023 |
| Thrombophilia, X-linked, due to factor 9 defect | 1 | Aug 4, 2016 |
| Thyroglobulin synthesis defect | 1 | Aug 17, 2009 |
| Thyroid adenoma | 1 | Sep 23, 2021 |
| Thyroid adenoma, hyperfunctioning, somatic | 5 | Aug 24, 2021 |
| Thyroid cancer, nonmedullary, 1 | 1 | Oct 17, 2016 |
| Thyroid cancer, nonmedullary, 2 | 8 | Sep 23, 2021 |
| Thyroid cancer, nonmedullary, 4 | 1 | Aug 31, 2015 |
| Thyroid carcinoma, sporadic medullary | 1 | Feb 28, 2017 |
| Thyroid dyshormonogenesis 1 | 8 | Oct 16, 2019 |
| Thyroid dyshormonogenesis 6 | 4 | May 4, 2015 |
| Thyroid gland undifferentiated (anaplastic) carcinoma | 1 | Apr 9, 2013 |
| Thyroid hormone metabolism, abnormal 1 | 4 | Jul 31, 2019 |
| Thyroid hormone metabolism, abnormal, 2 | 2 | Apr 26, 2022 |
| Thyroid hormone metabolism, abnormal, 3 | 1 | Jan 10, 2023 |
| Thyroid hormone resistance, generalized, autosomal dominant | 25 | Jan 14, 2021 |
| Thyroid hormone resistance, generalized, autosomal recessive | 2 | Jan 13, 2021 |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 3 | Aug 4, 2016 |
| Thyrotoxic periodic paralysis, susceptibility to, 2 | 4 | Oct 12, 2016 |
| Thyroxine-binding globulin deficiency, partial | 2 | Jan 7, 2022 |
| Thyroxine-binding globulin quantitative trait locus | 14 | Mar 22, 2022 |
| Thyroxine-binding globulin, Chicago | 1 | Mar 8, 2012 |
| Thyroxine-binding globulin, slow | 1 | Sep 8, 2016 |
| Thyroxine-binding globulin, variant A | 1 | Sep 8, 2016 |
| Thyroxine-binding globulin, variant P | 1 | Sep 8, 2016 |
| Tibia, hypoplasia or aplasia of, with polydactyly | 4 | Mar 15, 2024 |
| Tibial muscular dystrophy | 3 | Sep 25, 2018 |
| Tietz syndrome | 2 | Aug 15, 2017 |
| Timothy syndrome | 7 | Sep 29, 2022 |
| Tobacco addiction, susceptibility to | 2 | Mar 1, 2018 |
| Tolbutamide response | 1 | Jun 15, 2012 |
| Tolchin-Le Caignec syndrome | 5 | Aug 5, 2020 |
| Tooth agenesis, selective, 1 | 5 | Jun 19, 2018 |
| Tooth agenesis, selective, 10 | 9 | Dec 20, 2022 |
| Tooth agenesis, selective, 3 | 15 | May 12, 2017 |
| Tooth agenesis, selective, 4 | 6 | Mar 6, 2017 |
| Tooth agenesis, selective, 7 | 4 | Feb 14, 2022 |
| Tooth agenesis, selective, 8 | 2 | Aug 16, 2016 |
| Tooth agenesis, selective, 9 | 2 | Dec 29, 2016 |
| Tooth agenesis, selective, X-linked, 1 | 6 | Aug 22, 2016 |
| Toriello-Lacassie-Droste syndrome | 3 | Sep 30, 2016 |
| Torsion dystonia 2 | 3 | Jun 27, 2019 |
| Torsion dystonia 4 | 2 | Jun 22, 2015 |
| Torsion dystonia 6 | 9 | Sep 18, 2019 |
| Tourette syndrome | 3 | Oct 24, 2017 |
| Townes-Brocks syndrome 1 | 10 | Jun 19, 2018 |
| Townes-Brocks syndrome 2 | 6 | Mar 9, 2023 |
| Townes-Brocks-branchiootorenal-like syndrome | 2 | Jun 19, 2018 |
| Toxic epidermal necrolysis | 2 | Apr 25, 2017 |
| Transcobalamin II deficiency | 4 | Dec 3, 2019 |
| Transcription level of plasminogen activator inhibitor 1 | 1 | Mar 2, 2012 |
| Transferrin variant B2 | 1 | Dec 2, 2019 |
| Transferrin variant Bv | 1 | Sep 2, 2016 |
| Transferrin variant D(Chi) | 1 | Dec 2, 2019 |
| Transferrin variant D1 | 1 | Dec 2, 2019 |
| Transient bullous dermolysis of the newborn | 4 | Jun 3, 2022 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 6 | Jun 6, 2024 |
| Transient myeloproliferative disorder of Down syndrome | 1 | May 20, 2019 |
| Transketolase deficiency | 3 | Jul 20, 2016 |
| Transposition of the great arteries | 1 | Apr 19, 2018 |
| Transposition of the great arteries, dextro-looped | 2 | Sep 22, 2021 |
| Treacher Collins syndrome 1 | 11 | Oct 4, 2016 |
| Treacher Collins syndrome 2 | 7 | Oct 13, 2014 |
| Treacher Collins syndrome 3 | 5 | Jul 29, 2015 |
| Treacher Collins syndrome 4 | 3 | Jul 6, 2020 |
| Tremor, hereditary essential, 4 | 3 | Jul 31, 2017 |
| Tremor, hereditary essential, 5 | 3 | Jan 13, 2016 |
| Tremor, hereditary essential, 6 | 1 | Feb 16, 2022 |
| Tricho-dento-osseous syndrome | 2 | Jun 6, 2008 |
| Trichohepatoenteric syndrome 1 | 10 | Oct 10, 2022 |
| Trichohepatoenteric syndrome 2 | 6 | Oct 10, 2022 |
| Trichohepatoneurodevelopmental syndrome | 4 | Jan 10, 2019 |
| Trichomegaly | 3 | Jul 31, 2014 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 4 | Apr 28, 2017 |
| Trichorhinophalangeal dysplasia type I | 9 | Sep 19, 2019 |
| Trichorhinophalangeal syndrome, type III | 3 | Sep 19, 2019 |
| Trichothiodystrophy 1, photosensitive | 6 | Apr 25, 2017 |
| Trichothiodystrophy 2, photosensitive | 1 | May 29, 2015 |
| Trichothiodystrophy 3, photosensitive | 5 | Aug 10, 2020 |
| Trichothiodystrophy 4, nonphotosensitive | 5 | May 29, 2015 |
| Trichothiodystrophy 5, nonphotosensitive | 3 | May 8, 2020 |
| Trichothiodystrophy 6, nonphotosensitive | 2 | May 9, 2016 |
| Trichothiodystrophy 7, nonphotosensitive | 3 | Aug 20, 2019 |
| Trichothiodystrophy 8, nonphotosensitive | 4 | Jan 5, 2022 |
| Trichothiodystrophy 9, nonphotosensitive | 1 | Jan 4, 2022 |
| Trichotillomania | 1 | Jan 8, 2015 |
| Triglyceride storage disease with ichthyosis | 11 | May 16, 2024 |
| Trigonocephaly 1 | 1 | Aug 11, 2016 |
| Trigonocephaly 2 | 2 | Nov 21, 2017 |
| Trilateral retinoblastoma | 1 | Jan 29, 2018 |
| Trimethylaminuria | 13 | Mar 26, 2017 |
| Trimethylaminuria, mild | 1 | Mar 26, 2017 |
| Triokinase and FMN cyclase deficiency syndrome | 2 | Oct 20, 2020 |
| Triosephosphate isomerase deficiency | 7 | Feb 22, 2022 |
| Triosephosphate isomerase manchester | 1 | Jun 13, 2014 |
| Triphalangeal thumb | 5 | Oct 4, 2016 |
| Triphalangeal thumb-polysyndactyly syndrome | 2 | Oct 4, 2016 |
| Tropical pancreatitis | 1 | Dec 11, 2017 |
| Troyer syndrome | 3 | Mar 6, 2018 |
| Tsc2 angiomyolipomas, renal, modifier of | 1 | Sep 15, 2016 |
| Tuberculosis, susceptibility to | 1 | Dec 8, 2011 |
| Tuberous sclerosis 1 | 7 | Feb 17, 2017 |
| Tuberous sclerosis 2 | 16 | Jul 29, 2019 |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 1 | Feb 8, 2021 |
| Tumor predisposition syndrome 2 | 6 | Aug 8, 2022 |
| Tumor predisposition syndrome 3 | 14 | Sep 25, 2023 |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 13 | May 23, 2018 |
| Tumoral calcinosis, hyperphosphatemic, familial, 2 | 3 | Jul 11, 2018 |
| Tumoral calcinosis, hyperphosphatemic, familial, 3 | 1 | May 23, 2018 |
| Turnpenny-fry syndrome | 2 | Mar 28, 2019 |
| Type 1 diabetes mellitus 10 | 1 | Sep 3, 2020 |
| Type 1 diabetes mellitus 2 | 1 | Sep 5, 2020 |
| Type 1 diabetes mellitus 20 | 4 | Sep 16, 2021 |
| Type 1 diabetes mellitus 5 | 1 | Sep 3, 2020 |
| Type 2 diabetes mellitus | 23 | Apr 23, 2021 |
| Type 2 diabetes mellitus 1, susceptibility to | 4 | Sep 3, 2020 |
| Type A2 brachydactyly | 6 | Nov 19, 2021 |
| Type I complement component 8 deficiency | 2 | Oct 11, 2021 |
| Type II complement component 8 deficiency | 7 | Oct 11, 2021 |
| Tyrosinase-negative oculocutaneous albinism | 30 | Feb 3, 2020 |
| Tyrosinase-positive oculocutaneous albinism | 12 | Feb 13, 2018 |
| Tyrosinemia type I | 10 | Jun 29, 2015 |
| Tyrosinemia type II | 6 | Sep 15, 2020 |
| Tyrosinemia type III | 4 | Aug 18, 2015 |
| UCP1 POLYMORPHISM | 1 | Sep 28, 2016 |
| UCP3 POLYMORPHISM G/A | 1 | Sep 2, 2008 |
| UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION | 1 | Sep 2, 2008 |
| UDPglucose-4-epimerase deficiency | 7 | Apr 28, 2020 |
| ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT | 3 | Aug 15, 2016 |
| USHER SYNDROME, TYPE ID/F, DIGENIC | 4 | Oct 4, 2016 |
| UV-induced skin damage, susceptibility to | 3 | Aug 17, 2017 |
| UV-sensitive syndrome 1 | 1 | Nov 15, 2017 |
| UV-sensitive syndrome 2 | 1 | Jan 27, 2022 |
| UV-sensitive syndrome 3 | 3 | Nov 15, 2017 |
| Ullrich congenital muscular dystrophy 1A | 4 | Aug 15, 2016 |
| Ullrich congenital muscular dystrophy 1B | 13 | Sep 8, 2017 |
| Ullrich congenital muscular dystrophy 1C | 3 | Jul 20, 2015 |
| Ullrich congenital muscular dystrophy 2 | 1 | Jul 20, 2015 |
| Ulnar-mammary syndrome | 8 | Sep 20, 2022 |
| Uncombable hair syndrome 1 | 3 | May 25, 2022 |
| Uncombable hair syndrome 2 | 1 | Jan 5, 2017 |
| Uncombable hair syndrome 3 | 1 | Aug 15, 2018 |
| Unipolar depression, susceptibility to | 1 | May 10, 2011 |
| Unverricht-Lundborg syndrome | 6 | Nov 4, 2019 |
| Upshaw-Schulman syndrome | 24 | Nov 17, 2021 |
| Uric acid concentration, serum, quantitative trait locus 1 | 3 | Apr 3, 2018 |
| Uric acid concentration, serum, quantitative trait locus 2 | 3 | Sep 18, 2020 |
| Uric acid concentration, serum, quantitative trait locus 4 | 2 | Aug 10, 2012 |
| Uridine-cytidineuria | 3 | Aug 6, 2021 |
| Urinary bladder, atony of | 3 | Jun 24, 2021 |
| Urocanate hydratase deficiency | 2 | May 12, 2015 |
| Urofacial syndrome 2 | 4 | Feb 11, 2015 |
| Urofacial syndrome type 1 | 9 | Mar 25, 2017 |
| Uruguay Faciocardiomusculoskeletal syndrome | 1 | Oct 31, 2017 |
| Usher syndrome type 1 | 1 | Nov 7, 2012 |
| Usher syndrome type 1B | 11 | May 21, 2019 |
| Usher syndrome type 1C | 11 | Nov 26, 2019 |
| Usher syndrome type 1D | 7 | Oct 4, 2016 |
| Usher syndrome type 1F | 6 | Feb 13, 2013 |
| Usher syndrome type 1G | 6 | Mar 9, 2021 |
| Usher syndrome type 1J | 1 | Aug 4, 2016 |
| Usher syndrome type 2A | 14 | Oct 11, 2018 |
| Usher syndrome type 2C | 8 | Feb 11, 2021 |
| Usher syndrome type 2D | 4 | Oct 11, 2016 |
| Usher syndrome type 3 | 8 | Jul 1, 2015 |
| Usher syndrome type 3B | 1 | Aug 20, 2019 |
| Usher syndrome, type 1M | 1 | Nov 1, 2019 |
| Usher syndrome, type 4 | 11 | Aug 17, 2023 |
| Usher syndrome, type IIC, GPR98/PDZD7 digenic | 2 | Aug 31, 2016 |
| Usmani-Riazuddin syndrome, autosomal dominant | 3 | Oct 4, 2021 |
| Usmani-Riazuddin syndrome, autosomal recessive | 2 | Oct 4, 2021 |
| Uveal coloboma-cleft lip and palate-intellectual disability | 1 | Dec 7, 2016 |
| VACTERL association | 1 | Jul 24, 2015 |
| VACTERL association, X-linked, with or without hydrocephalus | 1 | Nov 30, 2012 |
| VASCULAR DEMENTIA, SUSCEPTIBILITY TO | 1 | Sep 6, 2016 |
| VEXAS syndrome | 5 | Oct 4, 2021 |
| VISS syndrome | 7 | Aug 12, 2021 |
| VON HIPPEL-LINDAU SYNDROME, MODIFIER OF | 1 | Apr 12, 2018 |
| VON WILLEBRAND FACTOR POLYMORPHISM | 1 | May 3, 2013 |
| Van Maldergem syndrome 1 | 3 | Sep 23, 2016 |
| Van Maldergem syndrome 2 | 6 | Apr 26, 2017 |
| Van den Ende-Gupta syndrome | 7 | Feb 13, 2024 |
| Van der Woude syndrome 1 | 13 | Aug 4, 2016 |
| Van der Woude syndrome 2 | 6 | Aug 22, 2018 |
| Vanishing white matter disease | 8 | Jun 6, 2019 |
| Variant of unknown significance | 43 | Sep 2, 2022 |
| Variegate porphyria | 10 | Aug 25, 2023 |
| Variegate porphyria, childhood-onset | 12 | Aug 25, 2023 |
| Vas deferens, congenital bilateral aplasia of, X-linked | 3 | Sep 30, 2016 |
| Vasculitis due to ADA2 deficiency | 9 | May 5, 2021 |
| Vater association with macrocephaly and ventriculomegaly | 1 | Jun 4, 2018 |
| Vel blood group system | 1 | Oct 24, 2016 |
| Velocardiofacial syndrome | 2 | Nov 7, 2019 |
| Venous thromboembolism, susceptibility to | 2 | Jun 11, 2019 |
| Venous thrombosis, protection against | 1 | May 10, 2017 |
| Venous thrombosis, susceptibility to | 2 | Jun 17, 2015 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 4 | Jan 13, 2022 |
| Ventricular fibrillation, paroxysmal familial, 2 | 1 | Dec 30, 2010 |
| Ventricular fibrillation, paroxysmal familial, type 1 | 1 | Oct 5, 2017 |
| Ventricular septal defect 1 | 6 | Sep 6, 2016 |
| Ventricular septal defect 2 | 1 | Jan 17, 2012 |
| Ventricular septal defect 3 | 3 | Feb 11, 2013 |
| Ventricular tachycardia, catecholaminergic polymorphic 6 | 1 | Feb 26, 2020 |
| Ventricular tachycardia, somatic | 1 | Apr 21, 2011 |
| Ventriculomegaly and arthrogryposis | 3 | Aug 31, 2021 |
| Ventriculomegaly-cystic kidney disease | 4 | Jan 5, 2022 |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | 2 | Dec 6, 2018 |
| Vertebral hypersegmentation and orofacial anomalies | 1 | Dec 8, 2020 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 7 | Jul 15, 2022 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 8 | Feb 29, 2024 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 4 | Apr 10, 2020 |
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 3 | Mar 19, 2021 |
| Ververi-Brady syndrome | 7 | Jul 2, 2021 |
| Very long chain acyl-CoA dehydrogenase deficiency | 12 | Oct 19, 2017 |
| Vesicoureteral reflux 2 | 2 | Mar 7, 2012 |
| Vesicoureteral reflux 3 | 3 | Aug 25, 2017 |
| Vesicoureteral reflux 8 | 2 | Dec 21, 2017 |
| Vibratory urticaria | 1 | Jun 24, 2016 |
| Vici syndrome | 8 | Dec 22, 2017 |
| Visceral myopathy 1 | 6 | Jul 15, 2021 |
| Visceral myopathy 2 | 2 | May 28, 2021 |
| Visceral neuropathy, familial, 1, autosomal recessive | 3 | Aug 2, 2021 |
| Visceral neuropathy, familial, 2, autosomal recessive | 1 | Aug 3, 2021 |
| Vissers-Bodmer syndrome | 5 | Sep 29, 2020 |
| Visual impairment and progressive phthisis bulbi | 1 | Jan 16, 2019 |
| Vitamin D hydroxylation-deficient rickets, type 1B | 4 | Aug 21, 2020 |
| Vitamin D-dependent rickets type II with alopecia | 15 | Jul 12, 2021 |
| Vitamin D-dependent rickets, type 1A | 17 | Oct 5, 2016 |
| Vitamin D-dependent rickets, type 3 | 1 | Oct 26, 2020 |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 | 4 | Nov 16, 2017 |
| Vitamin K-dependent clotting factors, combined deficiency of, type 2 | 1 | Dec 17, 2021 |
| Vitamin b12 plasma level quantitative trait locus 1 | 1 | Dec 18, 2018 |
| Vitelliform macular dystrophy 2 | 15 | Oct 19, 2016 |
| Vitelliform macular dystrophy 3 | 6 | Aug 22, 2019 |
| Vitelliform macular dystrophy 4 | 7 | Sep 10, 2021 |
| Vitelliform macular dystrophy 5 | 3 | Sep 11, 2021 |
| Vitiligo-associated multiple autoimmune disease susceptibility 1 | 1 | Sep 30, 2019 |
| Vitreoretinopathy with phalangeal epiphyseal dysplasia | 1 | Mar 25, 2021 |
| Von Hippel-Lindau syndrome | 17 | Mar 5, 2020 |
| Von Willebrand disease type 2A | 10 | Nov 7, 2018 |
| Von Willebrand disease type 2B | 7 | Nov 7, 2018 |
| WHIM syndrome 1 | 5 | Jul 7, 2021 |
| WHIM syndrome 2 | 1 | Jul 7, 2021 |
| Waardenburg syndrome type 1 | 11 | Dec 11, 2019 |
| Waardenburg syndrome type 2A | 9 | Feb 3, 2020 |
| Waardenburg syndrome type 2D | 1 | Jul 8, 2019 |
| Waardenburg syndrome type 2E, with neurologic involvement | 3 | Jun 6, 2018 |
| Waardenburg syndrome type 2E, without neurologic involvement | 7 | Sep 21, 2016 |
| Waardenburg syndrome type 3 | 4 | Dec 11, 2019 |
| Waardenburg syndrome type 4A | 3 | Sep 27, 2016 |
| Waardenburg syndrome type 4B | 5 | Feb 20, 2018 |
| Waardenburg syndrome type 4C | 8 | Sep 21, 2016 |
| Waardenburg syndrome, IIa 2F | 3 | Jul 5, 2022 |
| Wagner syndrome | 8 | May 10, 2017 |
| Warburg micro syndrome 1 | 13 | Jul 7, 2021 |
| Warburg micro syndrome 2 | 4 | Jul 8, 2021 |
| Warburg micro syndrome 3 | 5 | Aug 18, 2015 |
| Warburg micro syndrome 4 | 5 | Jun 7, 2021 |
| Warburg-cinotti syndrome | 2 | Feb 13, 2019 |
| Warfarin response | 12 | Jul 8, 2021 |
| Warfarin sensitivity, X-linked | 2 | Jul 24, 2020 |
| Warsaw breakage syndrome | 5 | Mar 28, 2019 |
| Weaver syndrome | 6 | Aug 11, 2022 |
| Webb-Dattani syndrome | 1 | Jan 17, 2020 |
| Weill-Marchesani 4 syndrome, recessive | 5 | Feb 16, 2018 |
| Weill-Marchesani syndrome 1 | 7 | May 22, 2015 |
| Weill-Marchesani syndrome 2, dominant | 1 | Sep 28, 2016 |
| Weill-Marchesani syndrome 3 | 1 | Jul 21, 2021 |
| Weiss-Kruszka syndrome | 7 | Oct 14, 2019 |
| Welander distal myopathy | 1 | Jan 6, 2021 |
| Werdnig-Hoffmann disease | 8 | Jun 23, 2017 |
| Werner syndrome | 10 | Nov 11, 2020 |
| West Nile virus, susceptibility to | 1 | Sep 3, 2020 |
| White blood cell count quantitative trait locus 1 | 1 | Dec 11, 2017 |
| White sponge nevus 1 | 3 | May 12, 2014 |
| White sponge nevus 2 | 2 | Jan 17, 2020 |
| White-Kernohan syndrome | 5 | Jul 20, 2021 |
| Wieacker-Wolff syndrome | 8 | Apr 9, 2020 |
| Wieacker-Wolff syndrome, female-restricted | 6 | Apr 9, 2020 |
| Wiedemann-Steiner syndrome | 8 | Apr 27, 2018 |
| Wilms tumor 1 | 9 | Jun 17, 2019 |
| Wilms tumor 2 | 2 | Jan 15, 2015 |
| Wilms tumor 5 | 2 | Nov 7, 2017 |
| Wilms tumor 6 | 3 | Jun 23, 2020 |
| Wilson disease | 23 | Mar 26, 2020 |
| Wilson-Turner syndrome | 2 | Aug 20, 2021 |
| Winchester syndrome | 2 | Mar 26, 2024 |
| Wiskott-Aldrich syndrome | 15 | Jan 16, 2018 |
| Wiskott-Aldrich syndrome 2 | 2 | Aug 17, 2020 |
| Wiskott-Aldrich syndrome, attenuated | 1 | Jan 16, 2018 |
| Wolcott-Rallison dysplasia | 5 | Oct 5, 2017 |
| Wolff-Parkinson-White pattern | 1 | Oct 19, 2017 |
| Wolff-Parkinson-White syndrome, childhood-onset | 1 | Oct 17, 2016 |
| Wolfram syndrome 1 | 19 | Sep 2, 2020 |
| Wolfram syndrome 2 | 3 | Jul 30, 2019 |
| Wolfram-like syndrome | 5 | Jul 27, 2015 |
| Wolman disease | 5 | Dec 22, 2017 |
| Woodhouse-Sakati syndrome | 8 | Oct 14, 2019 |
| Woolly hair, autosomal recessive 2, with or without hypotrichosis | 6 | Sep 3, 2013 |
| Woolly hair-skin fragility syndrome | 2 | Jun 13, 2023 |
| Wooly hair nevus | 1 | Apr 27, 2017 |
| Wooly hair, autosomal recessive 1, with or without hypotrichosis | 2 | Jun 8, 2018 |
| Wooly hair, autosomal recessive 3 | 2 | May 24, 2017 |
| Wooly hair-palmoplantar keratoderma syndrome | 1 | Nov 27, 2017 |
| Worth disease | 3 | May 10, 2021 |
| Wrinkly skin syndrome | 1 | Apr 29, 2017 |
| X inactivation, familial skewed, 1 | 1 | Sep 28, 2016 |
| X-linked Alport syndrome | 15 | Jan 31, 2019 |
| X-linked Emery-Dreifuss muscular dystrophy | 10 | Aug 23, 2016 |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | 2 | Oct 14, 2016 |
| X-linked Opitz G/BBB syndrome | 9 | Dec 16, 2011 |
| X-linked agammaglobulinemia | 52 | Oct 30, 2018 |
| X-linked agammaglobulinemia with growth hormone deficiency | 3 | Oct 30, 2018 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 7 | Sep 17, 2019 |
| X-linked chondrodysplasia punctata 1 | 8 | Aug 22, 2014 |
| X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | 1 | Feb 9, 2015 |
| X-linked complicated corpus callosum dysgenesis | 1 | Apr 23, 2017 |
| X-linked cone-rod dystrophy 1 | 5 | Jan 8, 2019 |
| X-linked cone-rod dystrophy 3 | 3 | Oct 28, 2015 |
| X-linked congenital hemolytic anemia | 1 | Apr 12, 2022 |
| X-linked distal spinal muscular atrophy type 3 | 2 | Nov 3, 2020 |
| X-linked dominant chondrodysplasia, Chassaing-Lacombe type | 1 | May 10, 2021 |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 3 | Feb 7, 2019 |
| X-linked dystonia-parkinsonism | 1 | Feb 5, 2013 |
| X-linked erythropoietic protoporphyria | 4 | Dec 11, 2017 |
| X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | 1 | Nov 15, 2018 |
| X-linked hydrocephalus syndrome | 12 | Apr 23, 2017 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 6 | Aug 4, 2016 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 7 | Mar 1, 2022 |
| X-linked intellectual disability | 2 | Mar 3, 2023 |
| X-linked intellectual disability Cabezas type | 5 | Aug 21, 2021 |
| X-linked intellectual disability with isolated growth hormone deficiency | 1 | Aug 20, 2021 |
| X-linked intellectual disability with marfanoid habitus | 1 | Mar 13, 2020 |
| X-linked intellectual disability, Cantagrel type | 8 | Aug 20, 2021 |
| X-linked intellectual disability, Stocco dos Santos type | 2 | Aug 21, 2021 |
| X-linked intellectual disability, van Esch type | 5 | Aug 5, 2019 |
| X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | 1 | Aug 20, 2021 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 6 | Aug 20, 2021 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 6 | Aug 19, 2021 |
| X-linked intellectual disability-short stature-overweight syndrome | 10 | Oct 16, 2024 |
| X-linked lissencephaly with abnormal genitalia | 10 | Aug 21, 2021 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 13 | Aug 19, 2014 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 8 | Jan 12, 2022 |
| X-linked mixed hearing loss with perilymphatic gusher | 11 | Jun 23, 2016 |
| X-linked myopathy with excessive autophagy | 9 | Sep 9, 2016 |
| X-linked myopathy with postural muscle atrophy | 4 | Oct 31, 2017 |
| X-linked parkinsonism-spasticity syndrome | 1 | Mar 8, 2022 |
| X-linked progressive cerebellar ataxia | 1 | Feb 12, 2014 |
| X-linked recessive nephrolithiasis with renal failure | 3 | Jun 22, 2021 |
| X-linked reticulate pigmentary disorder | 1 | Mar 25, 2021 |
| X-linked scapuloperoneal muscular dystrophy | 2 | Jul 22, 2019 |
| X-linked severe combined immunodeficiency | 11 | Dec 16, 2011 |
| X-linked severe congenital neutropenia | 3 | Sep 22, 2016 |
| X-linked sideroblastic anemia 1 | 14 | Dec 11, 2017 |
| X-linked sideroblastic anemia with ataxia | 5 | Jul 1, 2024 |
| X-linked spondyloepimetaphyseal dysplasia | 2 | Dec 15, 2016 |
| XFE progeroid syndrome | 3 | Apr 4, 2019 |
| XG BLOOD GROUP SYSTEM, Xg(a-) PHENOTYPE | 1 | Feb 28, 2022 |
| Xanthinuria type II | 4 | Jul 27, 2016 |
| Xeroderma pigmentosum group A | 7 | Mar 15, 2021 |
| Xeroderma pigmentosum group B | 7 | May 29, 2015 |
| Xeroderma pigmentosum group G/Cockayne syndrome | 4 | Mar 19, 2020 |
| Xeroderma pigmentosum variant type | 12 | Sep 28, 2016 |
| Xeroderma pigmentosum, group C | 10 | Feb 9, 2018 |
| Xeroderma pigmentosum, group D | 10 | Apr 25, 2017 |
| Xeroderma pigmentosum, group E | 4 | Feb 8, 2018 |
| Xeroderma pigmentosum, group F | 2 | Apr 4, 2019 |
| Xeroderma pigmentosum, group G | 10 | Aug 11, 2016 |
| Xeroderma pigmentosum, type F/Cockayne syndrome | 3 | Apr 4, 2019 |
| Xerosis and growth failure with immune and pulmonary dysfunction syndrome | 1 | Sep 14, 2023 |
| YT BLOOD GROUP POLYMORPHISM | 1 | Mar 31, 2011 |
| Yakut short stature syndrome | 1 | Jun 30, 2021 |
| Yao syndrome | 4 | Jun 12, 2018 |
| Yoon-Bellen neurodevelopmental syndrome | 6 | Jan 14, 2022 |
| Yuksel-Vogel-Bauer syndrome | 2 | Feb 5, 2024 |
| Yunis-Varon syndrome | 4 | Oct 5, 2016 |
| ZTTK syndrome | 7 | Nov 2, 2016 |
| Zaki syndrome | 4 | Dec 5, 2021 |
| Ziegler-Huang syndrome | 2 | Sep 1, 2023 |
| Zimmermann-Laband syndrome 1 | 5 | Mar 27, 2017 |
| Zimmermann-Laband syndrome 2 | 2 | Oct 9, 2024 |
| Zimmermann-laband syndrome 3 | 3 | Nov 11, 2019 |
| Zinc deficiency, transient neonatal | 2 | May 26, 2017 |
| alpha Thalassemia | 4 | Oct 13, 2016 |
| alpha, alpha-Trehalase deficiency | 1 | Jan 24, 2018 |
| beta Thalassemia | 3 | Dec 12, 2017 |
| delta Thalassemia | 8 | Dec 12, 2017 |
| gamma-Glutamyltransferase deficiency | 1 | Jan 12, 2021 |
| not provided | 395 | Nov 5, 2024 |
| not specified | 23 | Jul 18, 2019 |
| p phenotype | 6 | Jul 17, 2019 |
| von Willebrand disease type 1 | 7 | Aug 4, 2016 |
| von Willebrand disease type 2 | 3 | Aug 4, 2016 |
| von Willebrand disease type 2M | 2 | Aug 4, 2016 |
| von Willebrand disease type 2N | 7 | Aug 4, 2016 |
| von Willebrand disease type 3 | 6 | Aug 4, 2016 |
| von Willebrand disease, type 1, susceptibility to | 1 | Nov 7, 2018 |
| von Willebrand factor Vicenza | 1 | Aug 4, 2016 |
