From HPO
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Ulcerative colitis- MedGen UID:
- 3532
- •Concept ID:
- C0009324
- •
- Disease or Syndrome
A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.
Crohn disease- MedGen UID:
- 3664
- •Concept ID:
- C0010346
- •
- Disease or Syndrome
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Ileitis- MedGen UID:
- 9410
- •Concept ID:
- C0020877
- •
- Disease or Syndrome
Inflammation of the ileum.
Recurrent gastroenteritis- MedGen UID:
- 815158
- •Concept ID:
- C3808828
- •
- Finding
Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.
Anisocytosis- MedGen UID:
- 66371
- •Concept ID:
- C0221278
- •
- Finding
Abnormally increased variability in the size of erythrocytes.
Coombs-positive hemolytic anemia- MedGen UID:
- 105458
- •Concept ID:
- C0520736
- •
- Disease or Syndrome
A type of hemolytic anemia in which the Coombs test is positive.
Mastoiditis- MedGen UID:
- 7480
- •Concept ID:
- C0024904
- •
- Disease or Syndrome
Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Polyarticular arthritis- MedGen UID:
- 56408
- •Concept ID:
- C0162323
- •
- Disease or Syndrome
Pain and inflammation in more than five joints.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent bronchitis- MedGen UID:
- 148159
- •Concept ID:
- C0741796
- •
- Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Acute respiratory distress syndrome- MedGen UID:
- 1812214
- •Concept ID:
- C2887484
- •
- Disease or Syndrome
Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.
Restrictive ventilatory defect- MedGen UID:
- 478856
- •Concept ID:
- C3277226
- •
- Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Autoimmune hemolytic anemia- MedGen UID:
- 1918
- •Concept ID:
- C0002880
- •
- Disease or Syndrome
An autoimmune form of hemolytic anemia.
Leukocytosis- MedGen UID:
- 9736
- •Concept ID:
- C0023518
- •
- Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Systemic lupus erythematosus- MedGen UID:
- 6146
- •Concept ID:
- C0024141
- •
- Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).
Genetic Heterogeneity of Systemic Lupus Erythematosus
An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22.
See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Panniculitis- MedGen UID:
- 45301
- •Concept ID:
- C0030326
- •
- Disease or Syndrome
Inflammation of subcutaneous adipose tissue.
Pericarditis- MedGen UID:
- 18377
- •Concept ID:
- C0031046
- •
- Disease or Syndrome
Inflammation of the sac-like covering around the heart (pericardium).
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Rheumatoid factor positive- MedGen UID:
- 56226
- •Concept ID:
- C0151379
- •
- Laboratory or Test Result
The presence in the serum of an autoantibody directed against the Fc portion of IgG.
Antinuclear antibody positivity- MedGen UID:
- 101792
- •Concept ID:
- C0151480
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Decreased circulating IgA concentration- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Increased circulating IgE concentration- MedGen UID:
- 116018
- •Concept ID:
- C0236175
- •
- Finding
An abnormally increased overall level of immunoglobulin E in blood.
Decreased circulating total IgM- MedGen UID:
- 116095
- •Concept ID:
- C0239989
- •
- Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Anti-smooth muscle antibody positivity- MedGen UID:
- 116117
- •Concept ID:
- C0241185
- •
- Laboratory or Test Result
The presence in serum of antibodies against smooth muscle.
Autoimmune thrombocytopenia- MedGen UID:
- 116621
- •Concept ID:
- C0242584
- •
- Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Neutropenia in presence of anti-neutropil antibodies- MedGen UID:
- 137947
- •Concept ID:
- C0340971
- •
- Disease or Syndrome
A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Anti-thyroid peroxidase antibody positivity- MedGen UID:
- 1392952
- •Concept ID:
- C4476743
- •
- Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.
Neutrophilic infiltration of the skin- MedGen UID:
- 1620481
- •Concept ID:
- C4531258
- •
- Anatomical Abnormality
A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).
Anti-thyroglobulin antibody positivity- MedGen UID:
- 1670955
- •Concept ID:
- C4732836
- •
- Finding
The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.
BCGitis- MedGen UID:
- 1684722
- •Concept ID:
- C5139070
- •
- Disease or Syndrome
Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
Cytoplasmic antineutrophil antibody positivity- MedGen UID:
- 1690999
- •Concept ID:
- C5139210
- •
- Finding
The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.
Decreased circulating IgG concentration- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Anti-U1 ribonucleoprotein antibody positivity- MedGen UID:
- 1770556
- •Concept ID:
- C5421559
- •
- Laboratory or Test Result
The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.
Anti-integrin antibody positivity- MedGen UID:
- 1784328
- •Concept ID:
- C5539874
- •
- Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.
Anti-type VII collagen antibody- MedGen UID:
- 1778335
- •Concept ID:
- C5539880
- •
- Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.
Discoid lupus erythematosus- MedGen UID:
- 1811126
- •Concept ID:
- C5574816
- •
- Disease or Syndrome
Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
Oral ulcer- MedGen UID:
- 57699
- •Concept ID:
- C0149745
- •
- Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
Thickened nuchal skin fold- MedGen UID:
- 324644
- •Concept ID:
- C1836940
- •
- Finding
A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Growth abnormality