Niemann-Pick disease, type C2
Niemann-Pick disease that has material basis in an autosomal recessive mutation of NPC2 on chromosome 14q24.3
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Niemann-Pick disease, type C2
Summary
Niemann-Pick disease, type C2 is a class of disease[1].
Key Facts
- Niemann-Pick disease, type C2's instance of is recorded as class of disease[2].
- Niemann-Pick disease, type C2's subclass of is recorded as Niemann-Pick disease[3].
- Niemann-Pick disease, type C2's subclass of is recorded as Niemann–Pick disease, type C[4].
- Niemann-Pick disease, type C2's subclass of is recorded as genetic disease[5].
- Niemann-Pick disease, type C2's MeSH descriptor ID is recorded as C536119[6].
- Niemann-Pick disease, type C2's OMIM ID is recorded as 607625[7].
- Niemann-Pick disease, type C2's Disease Ontology ID is recorded as DOID:0070114[8].
- Niemann-Pick disease, type C2's NCI Thesaurus ID is recorded as C126865[9].
- Niemann-Pick disease, type C2's genetic association is recorded as NPC2[10].
- Niemann-Pick disease, type C2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070114[11].
- Niemann-Pick disease, type C2's exact match is recorded as http://identifiers.org/doid/DOID:0070114[12].
- Niemann-Pick disease, type C2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_646[13].
- Niemann-Pick disease, type C2's UMLS CUI is recorded as C1843366[14].
- Niemann-Pick disease, type C2's ICD-10-CM is recorded as E75.2[15].
- Niemann-Pick disease, type C2's GARD rare disease ID is recorded as 3992[16].
- Niemann-Pick disease, type C2's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- Niemann-Pick disease, type C2's Mondo ID is recorded as MONDO_0011873[18].
- Niemann-Pick disease, type C2's UniProt disease ID is recorded as DI-02056[19].