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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Urea Cycle Disorders, Inborn (D056806)
..Starting node ..Ornithine Carbamoyltransferase Deficiency Disease (D020163)
Child Nodes:
........ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Sister Nodes:
..3-methylcrotonyl CoA carboxylase 1 deficiency (C535308)
..3-methylcrotonyl CoA carboxylase 2 deficiency (C535309)
..Argininosuccinic Aciduria (D056807)
..Carbamoyl phosphate synthase 1 deficiency (C535574)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..Citrulline transport defect (C536207)
..Citrullinemia (D020159) 3
..HHH syndrome (C538380)
..Hyperargininemia (D020162)
..N-acetyl glutamate synthetase deficiency (C536109)
..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
..Osteopetrosis with renal tubular acidosis (C536058)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8318
Name:	Ornithine Carbamoyltransferase Deficiency Disease
Definition:	An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
Alternative IDs:
ParentIDs:	MESH:D040181\|MESH:D056806
TreeNumbers:	C10.228.140.163.100.937.750 \|C16.320.322.828 \|C16.320.565.100.940.750 \|C16.320.565.189.937.750 \|C18.452.132.100.937.500 \|C18.452.648.100.940.500 \|C18.452.648.189.937.500
Synonyms:	Deficiencies, Ornithine Transcarbamylase \|Deficiencies, OTC \|Deficiency Disease, Ornithine Carbamoyltransferase \|Deficiency Disease, Ornithine Transcarbamylase \|Deficiency, Ornithine Transcarbamylase \|Deficiency, OTC \|Ornithine Carbamoyltransferase Deficiency \|
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Nervous system disease
Reference:	MedGen: D020163 MeSH: D020163 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants