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Metadata
ID DOID:3753
Name Hermansky-Pudlak syndrome
Definition A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome, http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract
Xrefs

GARD:6643

ICD10CM:E70.331

MESH:D022861

NCI:C37261

OMIM:PS203300

ORDO:231531

ORDO:231537

ORDO:280663

ORDO:79430

SNOMEDCT_US_2021_03_01:60255003

UMLS_CUI:C0079504

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

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is_a syndrome

is_a autosomal recessive disease

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