cystathioninuria

amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31

Wikidata entity: Q5201186

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url None ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q5201182 (CTH) CTH
P1995 health specialty ... Q1071953 (medical genetics) medical genetics
P31 instance of ... Q112193867 (class of disease) class of disease
P1748 NCI Thesaurus ID String C129070 ???
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q18558086 (amino acid metabolic disorder) amino acid metabolic disorder
P279 subclass of ... Q19001322 (sulfuraminoacidemia) sulfuraminoacidemia
P279 subclass of ... Q200779 (genetic disease) genetic disease
External Ids
P699Disease Ontology IDDOID:0090142
P557DiseasesDB29671
P1417Encyclopædia Britannica Online IDscience/cystathioninuria
P4317GARD rare disease ID2428
P3841Human Phenotype Ontology IDHP:0003153
P4229ICD-10-CME72.1
P4229ICD-10-CME72.19
P493ICD-9 ID270.4
P665KEGG IDH00182
P486MeSH descriptor IDC535408
P6366Microsoft Academic ID (discontinued)2776972205
P5270Mondo IDMONDO_0009058
P492OMIM ID219500
P492OMIM ID219500
P1550Orphanet ID212
P2892UMLS CUIC0220993
P2892UMLS CUIC0268616
P2892UMLS CUIC3495552
P11430UniProt disease IDDI-01465

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