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Female infertility due to fertilization defect
Agenesis of first permanent molar tooth
Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. [from HPO]
Abnormal molar morphology
An abnormality of morphology of molar tooth. [from HPO]
Abnormality of molar
An abnormality of molar tooth. [from HPO]
Abnormal germ cell morphology
Any structural anomaly of a reproductive cell. [from HPO]
Agenesis of molar
Agenesis of molar tooth. [from HPO]
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]
Female infertility of uterine origin
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]
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]
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]
Gestational trophoblastic neoplasm
Disorder characterised by abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic. [from SNOMEDCT_US]
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]
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]
Placenta cancer
A primary or metastatic neoplasm that affects the placenta. [from NCI]
Nevus
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. [from HPO]
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]
Trophoblastic tumor
A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]. [from HPO]
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]
Neoplasm of uterus
A tumor (abnormal growth of tissue) of the uterus. [from HPO]
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