01
BLOC1S3
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Hermanski-Pudlak Syndrome
- Standard Disease Name
- hermanski-pudlak syndrome
- MeSH Tree
- No data
- ICD-10
- E70.331
Identifiers
- DO ID
- No data
- MeSH ID
- D022861
- OMIM ID
- No data
- UMLS ID
- C0079504
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.|MSH2017_2016_08_12:Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
Related
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