01
ABCA1
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 7
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Niemann-Pick Disease, Type C2
- Standard Disease Name
- niemann-pick disease, type c2
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D001139
- OMIM ID
- MTHU018884|MTHU015633|MTHU031525|118420|MTHU013648
- UMLS ID
- C0750929
- HPO ID
- No data
Description and Extensions
- Description
- HPO2016_07_04:Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. [HPO:curators]
Related
Related Entities
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Related Targets
target disease7 Targets