All terms in MONDO_RARE

Label Id Description
small intestine neuroendocrine neoplasm MONDO_0018510 [A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).]
intestinal neuroendocrine neoplasm MONDO_0002883 [A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).]
acropectororenal dysplasia MONDO_0019840 [Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.]
syndromic breast hypoplasia/aplasia MONDO_0015856
epithelial tumor of the appendix MONDO_0018511 [A epithelial neoplasm that involves the vermiform appendix.]
epithelial tumor of colon MONDO_0024479 [A epithelial neoplasm that involves the colon.]
appendiceal neoplasm MONDO_0001236 [A benign or malignant neoplasm involving the appendix.]
choriocarcinoma MONDO_0005207 [An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.]
germ cell tumor MONDO_0005040 [A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.]
trophoblastic neoplasm MONDO_0002872 [A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.]
congenital generalized lipodystrophy MONDO_0006536 [An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.]
generalized lipodystrophy MONDO_0027766 [Almost complete absence of subcutaneous and/or visceral adipose tissue.]
hereditary lipodystrophy MONDO_0020087 [An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.]
nonsyndromic congenital nail disorder 2 MONDO_0007867
inherited isolated nail anomaly MONDO_0019284 [A nail anomaly that is not part of a larger syndrome.]
primary antiphospholipid syndrome MONDO_0005204 [An antiphospholipid syndrome that occurs as an isolated disorder.]
antiphospholipid syndrome MONDO_8000010 [A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.]
hyperekplexia 1 MONDO_0007868 [A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.]
hereditary hyperekplexia MONDO_0021022 [Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.]
renal carcinoma MONDO_0005206 [A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.]