All terms in MONDO_RARE

Label Id Description
Sertoli cell tumor MONDO_0002696 [A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.]
sex cord-stromal benign neoplasm MONDO_0024988 [A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.]
testicular sertoli cell tumor MONDO_0020808 [A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.]
testicular sex cord-stromal neoplasm MONDO_0003125 [A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.]
cholestasis, intrahepatic, of pregnancy, 1 MONDO_0007829
intrahepatic cholestasis of pregnancy MONDO_0100429 [A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.]
familial intrahepatic cholestasis MONDO_0017290 [An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.]
ovarian sertoli-stromal cell tumor MONDO_0020807 [A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.]
ovarian sex cord-stromal tumor MONDO_0021657 [A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.]
hereditary hemochromatosis MONDO_0006507 [An inherited metabolic disorder characterized by iron accumulation in the tissues.]
hemosiderosis MONDO_0001436 [Accumulation of iron in internal organs.]
inborn metal metabolism disorder MONDO_0004689 [An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.]
disorder of iron metabolism and transport MONDO_0017763
Jacobsen syndrome MONDO_0007838 [A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.]
partial deletion of the long arm of chromosome 11 MONDO_0016910 [A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.]
syndromic constitutional thrombocytopenia MONDO_0018795
Aase-Smith syndrome MONDO_0007839 [Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.]
congenital nervous system disorder MONDO_0002320 [An abnormality of the nervous system that is present at birth or detected in the neonatal period.]
multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO_0015161
central nervous system malformation MONDO_0020022