Hermansky-pudlak syndrome 11

Preferred Label : Hermansky-pudlak syndrome 11;

Symbol : HPS11;

Type : Phenotype, molecular basis known;

Prefixed ID : #619172;

Origin ID

619172;

UMLS CUI

C5436936;

Genes related to phenotype
- Biogenesis of lysosome-related organelles complex 1, subunit 5 [OMIM gene]
HPO term(s)
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Fair hair [HPO term]
- Gingival bleeding [HPO term]
- Hypoplasia of the fovea [HPO term]
- Impaired collagen-induced platelet aggregation [HPO term]
- Iris transillumination defect [HPO term]
- Melanocytic nevus [HPO term]
- Menorrhagia [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Photophobia [HPO term]
- Reduced platelet dense granules [HPO term]
- Reduced visual acuity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency [ORDO Disease]
See also inter- (CISMeF)
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Hermansky-Pudlak syndrome [ORDO Disease]