All terms in MONDO_CLINGEN

Label Id Description
cardiovascular disorder MONDO_0004995 [A disease involving the cardiovascular system.]
2-aminoadipic 2-oxoadipic aciduria MONDO_0008774
inborn disorder of lysine and hydroxylysine metabolism MONDO_0017351
amyotrophic lateral sclerosis type 6 MONDO_0011951 [Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.]
hereditary xanthinuria MONDO_0018106 [Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.]
xanthinuria MONDO_0000721 [A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.]
inborn disorder of purine metabolism MONDO_0019236 [An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.]
ELOVL4-related maculopathy MONDO_0700227 [Any maculopathy caused by a variant in the ELOVL4 gene.]
thyroid gland carcinoma MONDO_0015075 [A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.]
Wolfram syndrome MONDO_0018105 [Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).]
thyroid gland disorder MONDO_0003240 [A disease involving the thyroid gland.]
multiple polyglandular tumor MONDO_0015079
polyendocrinopathy MONDO_0015126
inherited renal tubular disease MONDO_0015962
disorder of magnesium transport MONDO_0017765 [An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.]
inborn metal metabolism disorder MONDO_0004689 [An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.]
Poirier-Bienvenu neurodevelopmental syndrome MONDO_0032889
inborn mitochondrial myopathy MONDO_0009637 [Myopathy caused by mitochondrial abnormalities.]
inborn glycerol kinase deficiency MONDO_0010613 [An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.]
migraine disorder MONDO_0005277 [A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.]