loading...| Preferred Name | Hermansky-Pudlak syndrome | |
| Synonyms |
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| 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_3753 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
ORDO:231531 ORDO:231537 MESH:D022861 UMLS_CUI:C0079504 ICD10CM:E70.331 SNOMEDCT_US_2020_03_01:60255003 ORDO:280663 OMIM:PS203300 GARD:6643 NCI:C37261 ORDO:79430 |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3753 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Hermansky-Pudlak syndrome |
|
| notation |
DOID:3753 |
|
| prefLabel |
Hermansky-Pudlak syndrome |
|
| textual definition |
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. |
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| subClassOf |