Gaucher's disease type I
Gaucher's disease characterized by absence of primary central nervous system involvement that has material basis in a mutation of GBA on chromosome 1q22
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Gaucher's disease type I
Summary
Gaucher's disease type I is a class of disease[1].
Key Facts
- Gaucher's disease type I's instance of is recorded as class of disease[2].
- Gaucher's disease type I's subclass of is recorded as Gaucher's disease[3].
- Gaucher's disease type I's subclass of is recorded as genetic disease[4].
- Gaucher's disease type I's OMIM ID is recorded as 230800[5].
- Gaucher's disease type I's Disease Ontology ID is recorded as DOID:0110957[6].
- Gaucher's disease type I's Orphanet ID is recorded as 77259[7].
- Gaucher's disease type I's genetic association is recorded as GBA[8].
- Gaucher's disease type I's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110957[9].
- Gaucher's disease type I's exact match is recorded as http://identifiers.org/doid/DOID:0110957[10].
- Gaucher's disease type I's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_77259[11].
- Gaucher's disease type I's UMLS CUI is recorded as C1961835[12].
- Gaucher's disease type I's ICD-10-CM is recorded as E75.2[13].
- Gaucher's disease type I's GARD rare disease ID is recorded as 2441[14].
- Gaucher's disease type I's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Gaucher's disease type I's Mondo ID is recorded as MONDO_0009265[16].
- Gaucher's disease type I's UniProt disease ID is recorded as DI-01647[17].