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| Term | Hermansky-Pudlak syndrome | ID (Ontology) | DOID:3753 (Human Disease) |
| 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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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| Hermansky-Pudlak syndrome 35 rec. |__Hermansky-Pudlak syndrome 1 1 rec. |__Hermansky-Pudlak syndrome 2 2 rec. |__Hermansky-Pudlak syndrome 3 1 rec. |__Hermansky-Pudlak syndrome 4 2 rec. |__Hermansky-Pudlak syndrome 5 2 rec. |__Hermansky-Pudlak syndrome 6 |__Hermansky-Pudlak syndrome 7 3 rec. |__Hermansky-Pudlak syndrome 8 1 rec. |__Hermansky-Pudlak syndrome 9 6 rec. |
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| Is a |
autosomal recessive disease syndrome |
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GARD:6643 ICD10CM:E70.331 MESH:D022861 MIM:PS203300 NCI:C37261 ORDO:231531 ORDO:231537 ORDO:280663 ORDO:79430 SNOMEDCT_US_2023_03_01:60255003 UMLS_CUI:C0079504 |
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