3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22
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3-methylglutaconic aciduria type 1
Summary
3-methylglutaconic aciduria type 1 is a class of disease[1].
Key Facts
- 3-methylglutaconic aciduria type 1's instance of is recorded as class of disease[2].
- 3-methylglutaconic aciduria type 1's subclass of is recorded as 3-methylglutaconic aciduria[3].
- 3-methylglutaconic aciduria type 1's subclass of is recorded as genetic disease[4].
- 3-methylglutaconic aciduria type 1's subclass of is recorded as autosomal recessive disease[5].
- 3-methylglutaconic aciduria type 1's MeSH descriptor ID is recorded as C562801[6].
- 3-methylglutaconic aciduria type 1's OMIM ID is recorded as 250950[7].
- 3-methylglutaconic aciduria type 1's Disease Ontology ID is recorded as DOID:0110002[8].
- 3-methylglutaconic aciduria type 1's Orphanet ID is recorded as 67046[9].
- 3-methylglutaconic aciduria type 1's NCI Thesaurus ID is recorded as C98683[10].
- 3-methylglutaconic aciduria type 1's genetic association is recorded as AUH[11].
- 3-methylglutaconic aciduria type 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110002[12].
- 3-methylglutaconic aciduria type 1's exact match is recorded as http://identifiers.org/doid/DOID:0110002[13].
- 3-methylglutaconic aciduria type 1's UMLS CUI is recorded as C0342727[14].
- 3-methylglutaconic aciduria type 1's UMLS CUI is recorded as C0342728[15].
- 3-methylglutaconic aciduria type 1's ICD-10-CM is recorded as E71.1[16].
- 3-methylglutaconic aciduria type 1's GARD rare disease ID is recorded as 10321[17].
- 3-methylglutaconic aciduria type 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- 3-methylglutaconic aciduria type 1's Mondo ID is recorded as MONDO_0009610[19].
- 3-methylglutaconic aciduria type 1's UniProt disease ID is recorded as DI-00004[20].