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Items: 1 to 20 of 21

1.

Female infertility due to fertilization defect

MedGen UID:
1843367
Concept ID:
C5681140
Disease or Syndrome
2.

Agenesis of first permanent molar tooth

Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. [from HPO]

MedGen UID:
869142
Concept ID:
C4023562
Anatomical Abnormality
3.

Abnormal molar morphology

An abnormality of morphology of molar tooth. [from HPO]

MedGen UID:
869134
Concept ID:
C4023553
Anatomical Abnormality
4.

Abnormality of molar

An abnormality of molar tooth. [from HPO]

MedGen UID:
869128
Concept ID:
C4023547
Anatomical Abnormality
5.

Abnormal germ cell morphology

Any structural anomaly of a reproductive cell. [from HPO]

MedGen UID:
868310
Concept ID:
C4022704
Anatomical Abnormality
6.

Agenesis of molar

Agenesis of molar tooth. [from HPO]

MedGen UID:
866849
Concept ID:
C4021203
Congenital Abnormality
7.

Abnormal placenta morphology

An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. [from HPO]

MedGen UID:
727204
Concept ID:
C1306893
Anatomical Abnormality; Finding
8.

Female infertility of uterine origin

MedGen UID:
510285
Concept ID:
C0156416
Pathologic Function
9.

Hydatidiform mole, recurrent, 1

The first symptom of a hydatidiform mole is often vaginal bleeding in the first trimester of pregnancy. During an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes.

Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind will continue to grow and become a cancerous (malignant) tumor called a persistent mole. If the tumor invades the surrounding tissue of the uterus, it is called an invasive mole. In rare cases, this malignant tumor can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.

Recurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles. A hydatidiform mole is a mass that forms early in pregnancy and is made up of cells from an abnormally developed embryo and placenta. Normally, the embryo would develop into a fetus and the placenta would grow to provide nutrients to the growing fetus. When a hydatidiform mole occurs once, it is known as sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole. [from MedlinePlus Genetics]

MedGen UID:
483038
Concept ID:
C3463897
Disease or Syndrome
10.

Hydatidiform mole, recurrent, 2

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090). [from OMIM]

MedGen UID:
481982
Concept ID:
C3280352
Disease or Syndrome
11.

Gestational trophoblastic disease

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). Genetic Heterogeneity of Recurrent Hydatidiform Mole Another form of recurrent complete hydatidiform mole (HYDM2; 614293) is caused by mutation in the KHDC3L gene (611687) on chromosome 6q13. HYDM3 (618431) is caused by mutation in the MEI1 gene (608797) on chromosome 22q13. HYDM4 (618432) is caused by mutation in the C11ORF80 gene (616109) on chromosome 11q13. [from OMIM]

MedGen UID:
444101
Concept ID:
C2931618
Disease or Syndrome
12.

Gestational trophoblastic neoplasm

Disorder characterised by abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic. [from SNOMEDCT_US]

MedGen UID:
210107
Concept ID:
C1135868
Neoplastic Process
13.

Complete hydatidiform mole

A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma. [from ORDO]

MedGen UID:
195706
Concept ID:
C0678213
Neoplastic Process
14.

Benign neoplasm of placenta

A neoplasm that arises from the placenta and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. [from NCI]

MedGen UID:
146350
Concept ID:
C0686274
Neoplastic Process
15.

Placenta cancer

A primary or metastatic neoplasm that affects the placenta. [from NCI]

MedGen UID:
56310
Concept ID:
C0153572
Neoplastic Process
16.

Nevus

A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. [from HPO]

MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
17.

Uterine disorder

A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. [from NCI]

MedGen UID:
22590
Concept ID:
C0042131
Disease or Syndrome
18.

Trophoblastic tumor

A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]. [from HPO]

MedGen UID:
21708
Concept ID:
C0041182
Neoplastic Process
19.

Melanocytic nevus

A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. [from HPO]

MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
20.

Neoplasm of uterus

A tumor (abnormal growth of tissue) of the uterus. [from HPO]

MedGen UID:
12030
Concept ID:
C0042138
Neoplastic Process
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