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DO Term : Hermansky-Pudlak syndrome [DOID:3753] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.

synonyms:
ORDO:231531,
OMIM:PS203300,
ORDO:280663,
SNOMEDCT_US_2023_03_01:60255003,
ORDO:231537,
MESH:D022861,
GARD:6643,
ICD10CM:E70.331,
PS203300,
ORDO:79430,
NCI:C37261,
UMLS_CUI:C0079504

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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