Gaucher's disease type II
Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22
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Gaucher's disease type II
Summary
Gaucher's disease type II is a class of disease[1].
Key Facts
- Gaucher's disease type II's instance of is recorded as class of disease[2].
- Gaucher's disease type II's subclass of is recorded as Gaucher's disease[3].
- Gaucher's disease type II's subclass of is recorded as genetic disease[4].
- Gaucher's disease type II's OMIM ID is recorded as 230900[5].
- Gaucher's disease type II's Disease Ontology ID is recorded as DOID:0110958[6].
- Gaucher's disease type II's Orphanet ID is recorded as 77260[7].
- Gaucher's disease type II's genetic association is recorded as GBA[8].
- Gaucher's disease type II's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110958[9].
- Gaucher's disease type II's exact match is recorded as http://identifiers.org/doid/DOID:0110958[10].
- Gaucher's disease type II's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_77260[11].
- Gaucher's disease type II's ICD-10-CM is recorded as E75.2[12].
- Gaucher's disease type II's GARD rare disease ID is recorded as 2442[13].
- Gaucher's disease type II's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- Gaucher's disease type II's Mondo ID is recorded as MONDO_0009266[15].
- Gaucher's disease type II's ICD-11 ID is recorded as 113306978[16].
- Gaucher's disease type II's UniProt disease ID is recorded as DI-01648[17].