Link to this page
Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
Jump to:
| Preferred Name | Hermansky-Pudlak syndrome | |
| Synonyms |
|
|
| Definitions |
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3753 |
|
| comment |
Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| database_cross_reference |
ORDO:231531 ORDO:231537 MESH:D022861 MIM:PS203300 UMLS_CUI:C0079504 SNOMEDCT_US_2023_03_01:60255003 ICD10CM:E70.331 ORDO:280663 GARD:6643 NCI:C37261 ORDO:79430
|
|
| definition |
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:3753
|
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Hermansky-Pudlak syndrome
|
|
| notation |
DOID:3753
|
|
| note |
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| preferred label |
Hermansky-Pudlak syndrome
|
|
| prefLabel |
Hermansky-Pudlak syndrome
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping