Hermansky-Pudlak syndrome

Term ID

DOID:3753

Synonyms

Definition

A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. (3)

References

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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Ontology

Human Disease ( DOID:3753 )

Relationships

is a type of: autosomal recessive disease syndrome

autosomal recessive disease syndrome Show first 5 Terms
has subtype: Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome 5 ... Show All 9 Terms

Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome 5 Hermansky-Pudlak syndrome 6 Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome 9 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models