All terms in MONDO_RARE

Label Id Description
hereditary gastric cancer MONDO_0018502 [Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.]
gastric carcinoma MONDO_0004950 [A carcinoma that arises from epithelial cells of the stomach.]
congenital anomaly of hepatic vein MONDO_0019836
autoimmune disorder of central nervous system MONDO_0000568 [A hypersensitivity reaction type II disease that involves the central nervous system.]
acquired pituitary hormone deficiency MONDO_0019832 [An instance of hypopituitarism that is acquired during the lifetime of the individual.]
autoimmune disorder of endocrine system MONDO_0000569 [A hypersensitivity reaction type II disease that involves the endocrine system.]
hypophysitis MONDO_0021156 [Inflammation of the pituitary gland.]
undifferentiated carcinoma of stomach MONDO_0018504 [A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.]
undifferentiated carcinoma MONDO_0005617 [A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.]
distal arthrogryposis type 2B1 MONDO_0020820
Sheldon-hall syndrome MONDO_0011128 [Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.]
congenital anomaly of the inferior vena cava MONDO_0019830
hypopituitarism MONDO_0005152 [A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.]
cutaneous larva migrans MONDO_0018500 [Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.]
parasitic infectious disease MONDO_0005135 [A successful invasion of a host by an organism that uses the host for food and shelter.]
trichothiodystrophy 7, nonphotosensitive MONDO_0032806
trichothiodystrophy MONDO_0018053 [Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).]
palmoplantar keratoderma, punctate type 1A MONDO_0007858 [Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.]
punctate palmoplantar keratoderma type 1 MONDO_0019332 [Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..]
anhidrosis MONDO_0006527 [Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.]