All terms in MONDO_CLINGEN

Label Id Description
primary hyperparathyroidism MONDO_0010837 [Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.]
tumor of parathyroid gland MONDO_0021360 [A neoplasm (disease) that involves the parathyroid gland.]
vitamin B12-responsive methylmalonic acidemia MONDO_0017214 [Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).]
familial severe combined immunodeficiency MONDO_0031520
severe combined immunodeficiency MONDO_0015974 [Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.]
ABCD1 deficiency MONDO_0018544 [A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.]
leukodystrophy MONDO_0019046 [Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.]
attenuated familial adenomatous polyposis MONDO_0016362 [Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.]
classic or attenuated familial adenomatous polyposis MONDO_0021057 [An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.]
retinitis pigmentosa with or without situs inversus MONDO_0014186 [Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.]
retinitis pigmentosa MONDO_0019200 [Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.]
disorder of galactose metabolism MONDO_0017690
Hermansky-Pudlak syndrome 1 MONDO_0008748 [Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.]
Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO_0016501 [Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.]
spermatogenic failure 39 MONDO_0032845
spermatogenic failure MONDO_0004983 [A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.]
oculocutaneous albinism type 2 MONDO_0008746 [Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.]
Beare-Stevenson cutis gyrata syndrome MONDO_0007412 [A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.]
non-small cell lung carcinoma MONDO_0005233 [A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.]
lung carcinoma MONDO_0005138 [A carcinoma that arises from epithelial cells of the lung]