All terms in MONDO_RARE

Label Id Description
male reproductive system disorder MONDO_0003150 [A disease involving the male reproductive system.]
posterior hypospadias MONDO_0019848 [Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.]
inherited dystonia MONDO_0044807 [An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.]
dystonic disorder MONDO_0003441 [A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.]
benign testicular sertoli cell tumor MONDO_0020813 [A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.]
benign neoplasm of testis MONDO_0021447 [A benign neoplasm that involves the testis.]
iatrogenic or traumatic pituitary deficiency MONDO_0019845
mitochondrial complex III deficiency, nuclear type MONDO_0020811
mitochondrial complex III deficiency MONDO_0015448 [Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).]
squamous cell carcinoma of colon MONDO_0018513 [A squamous cell carcinoma that involves the colon.]
colon carcinoma MONDO_0002032 [A carcinoma that arises from epithelial cells of the colon]
colorectal squamous cell carcinoma MONDO_0006165 [A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.]
epithelial tumor of anal canal MONDO_0018516 [A epithelial neoplasm that involves the anal canal.]
epithelial neoplasm MONDO_0005626 [A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.]
large intestine disorder MONDO_0024634 [A disease that involves the large intestine.]
intestinal neoplasm MONDO_0021118 [A benign or malignant neoplasm involving the small or large intestine.]
squamous cell carcinoma of rectum MONDO_0018515 [A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.]
rectal carcinoma MONDO_0044937 [A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.]
acquired central diabetes insipidus MONDO_0019846 [Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.]
central diabetes insipidus MONDO_0015790 [Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).]