All terms in MONDO_CLINGEN

Label Id Description
disorder of methionine catabolism MONDO_0000351 [An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.]
inborn disorder of amino acid metabolism MONDO_0004736 [An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.]
inborn disorder of aspartate family metabolism MONDO_0037938 [An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.]
inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO_0019222 [An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.]
Wolfram-like syndrome MONDO_0013673 [Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.]
endocrine system disorder MONDO_0005151 [A disease involving the endocrine system.]
urocanic aciduria MONDO_0010167 [Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.]
inborn disorder of histidine metabolism MONDO_0019228 [An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.]
autosomal dominant hypocalcemia 1 MONDO_0011013 [Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.]
autosomal dominant hypocalcemia MONDO_0018543 [Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.]
maturity-onset diabetes of the young type 8 MONDO_0012348 [Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.]
maturity-onset diabetes of the young MONDO_0018911 [MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.]
polyglucosan body myopathy type 2 MONDO_0014526 [Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.]
polyglucosan body myopathy MONDO_0000192
GYG1-related disorder of glycogen metabolism MONDO_0100314 [Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene.]
Usher syndrome type 1 MONDO_0010168 [A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.]
Usher syndrome MONDO_0019501 [A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.]
tyrosinemia type I MONDO_0010161 [Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.]
tyrosinemia MONDO_0004741 [An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.]
tyrosinemia type II MONDO_0010160 [Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.]