All terms in MONDO_CLINGEN

Label Id Description
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO_0009615 [Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.]
methylmalonic aciduria, cblB type MONDO_0009614 [An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.]
vitamin B12-responsive methylmalonic acidemia type cblA MONDO_0009613 [An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.]
aural atresia, congenital MONDO_0011921
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO_0009612 [Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.]
3-methylglutaconic aciduria type 1 MONDO_0009610 [3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.]
3-methylglutaconic aciduria MONDO_0017359 [A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.]
Alstrom syndrome MONDO_0008763 [A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.]
glutaminase deficiency MONDO_0600001 [Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.]
ocular cancer MONDO_0002236 [A benign or malignant neoplasm affecting the structures of the eye.]
beta-ketothiolase deficiency MONDO_0008760 [Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.]
inborn disorder of ketolysis MONDO_0019229 [An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.]
palmoplantar keratosis MONDO_0006590 [A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.]
hereditary hypoparathyroidism MONDO_0016165 [An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual.]
hemophilia A MONDO_0010602 [The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.]
hemophilia MONDO_0018660 [Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.]
microcephaly and chorioretinopathy 1 MONDO_0009624 [An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.]
microcephaly and chorioretinopathy MONDO_0000181
Nijmegen breakage syndrome MONDO_0009623 [Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.]
hemophilia B MONDO_0010604 [Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.]