glutaric aciduria type 1

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder

Wikidata entity: Q2140501

Wikimedia Commons category is Glutaric aciduria type 1

P373 Commons category String Glutaric aciduria type 1 ???
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 Ontology Lookup Service (OLS) ???
P1325 external data available at URL Url None ???
P2293 genetic association ... Q3195074 (GCDH) GCDH
P1995 health specialty ... Q162606 (endocrinology) endocrinology
P1692 ICD-9-CM String 270.7 ???
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P1748 NCI Thesaurus ID String C99101 ???
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
External Ids
P699Disease Ontology IDDOID:0111254
P557DiseasesDB29830
P646Freebase ID/m/07hjs_
P4317GARD rare disease ID6522
P668GeneReviews IDNBK546575
P3720GPnotebook ID393279
P494ICD-10 IDE72.3
P4229ICD-10-CME72.3
P7807ICD-11 ID (Foundation)1749323401
P486MeSH descriptor IDC536833
P5270Mondo IDMONDO_0009281
P7995NHS Health A to Z IDglutaric-aciduria
P492OMIM ID231670
P492OMIM ID231670
P1550Orphanet ID25
P4233PatientsLikeMe condition IDglutaric-acidemia-type-i
P2892UMLS CUIC0268595
P11430UniProt disease IDDI-00512
P11143WikiProjectMed IDGlutaric aciduria type 1

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