Niemann-Pick disease, type C1
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein
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Niemann-Pick disease, type C1
Summary
Niemann-Pick disease, type C1 is a class of disease[1].
Key Facts
- Niemann-Pick disease, type C1's instance of is recorded as class of disease[2].
- Niemann-Pick disease, type C1's subclass of is recorded as Niemann-Pick disease[3].
- Niemann-Pick disease, type C1's subclass of is recorded as Niemann–Pick disease, type C[4].
- Niemann-Pick disease, type C1's subclass of is recorded as genetic disease[5].
- Niemann-Pick disease, type C1's OMIM ID is recorded as 257220[6].
- Niemann-Pick disease, type C1's Disease Ontology ID is recorded as DOID:0070113[7].
- Niemann-Pick disease, type C1's NCI Thesaurus ID is recorded as C126864[8].
- Niemann-Pick disease, type C1's genetic association is recorded as NPC1[9].
- Niemann-Pick disease, type C1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070113[10].
- Niemann-Pick disease, type C1's exact match is recorded as http://identifiers.org/doid/DOID:0070113[11].
- Niemann-Pick disease, type C1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_646[12].
- Niemann-Pick disease, type C1's UMLS CUI is recorded as C3179455[13].
- Niemann-Pick disease, type C1's UMLS CUI is recorded as C0220756[14].
- Niemann-Pick disease, type C1's UMLS CUI is recorded as C0268247[15].
- Niemann-Pick disease, type C1's UMLS CUI is recorded as C1850363[16].
- Niemann-Pick disease, type C1's ICD-10-CM is recorded as E75.2[17].
- Niemann-Pick disease, type C1's GARD rare disease ID is recorded as 7207[18].
- Niemann-Pick disease, type C1's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
- Niemann-Pick disease, type C1's Mondo ID is recorded as MONDO_0009757[20].
- Niemann-Pick disease, type C1's UniProt disease ID is recorded as DI-02055[21].