loading...| Preferred Name |
Hermansky-Pudlak syndrome |
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| Synonyms |
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| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. 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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| ID |
http://purl.obolibrary.org/obo/DOID_3753 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
ORDO:231531 ORDO:231537 MESH:D022861 UMLS_CUI:C0079504 SNOMEDCT_US_2023_03_01:60255003 ICD10CM:E70.331 ORDO:280663 OMIM:PS203300 GARD:6643 NCI:C37261 ORDO:79430 |
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| 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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| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:3753 |
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| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
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| label |
Hermansky-Pudlak syndrome |
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| notation |
DOID:3753 |
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| prefLabel |
Hermansky-Pudlak syndrome |
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| subClassOf |