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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607625
http://purl.bioontology.org/ontology/OMIM/607625
|
|---|---|
| Preferred Name | NIEMANN-PICK DISEASE, TYPE C2 |
| Synonyms |
NPC2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NPC2
|
|---|---|
| prefLabel | NIEMANN-PICK DISEASE, TYPE C2
|
| Gene Symbol |
HE1
NPC2
|
| Scope Statement | Neurologic involvement may occur in the absence of visceral involvement [MISCELLANEOUS]
Genetic heterogeneity (see NPC1, 257220) [MISCELLANEOUS]
Caused by mutation in the NPC intracellular cholesterol transporter 2 gene (NPC2, 601015.0001) [MOLECULAR BASIS]
Early death from respiratory failure may occur [MISCELLANEOUS]
Highly variable phenotype and age of onset [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q24.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607625
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1843366
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |