Hermansky-Pudlak syndrome
Information
- Disease name
- Hermansky-Pudlak syndrome
- Disease ID
- DOID:3753
- Description
- "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin." [url:http\://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome, url:http\://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| HPS1 | 10 | 98,416,198 | 98,446,935 | 40 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6643
- Cross Reference ID (Disease Ontology)
- ICD10CM:E70.331
- Cross Reference ID (Disease Ontology)
- MESH:D022861
- Cross Reference ID (Disease Ontology)
- MIM:PS203300
- Cross Reference ID (Disease Ontology)
- NCI:C37261
- Cross Reference ID (Disease Ontology)
- ORDO:231531
- Cross Reference ID (Disease Ontology)
- ORDO:231537
- Cross Reference ID (Disease Ontology)
- ORDO:280663
- Cross Reference ID (Disease Ontology)
- ORDO:79430
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:60255003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0079504
- OMIM Phenotype Series Number (OMIM)
- PS203300
- OrphaNumber from OrphaNet (Orphanet)
- 79430
- MedGen concept unique identifier (MedGen Concept name)
- C0079504
- MedGen unique identifier (MedGen Concept name)
- 36313