Hermansky-pudlak syndrome 7

Preferred Label : Hermansky-pudlak syndrome 7;

Symbol : HPS7;

CISMeF acronym : HPS7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dystrobrevin-binding protein 1 gene (DTNBP1, 607145.0001);

Prefixed ID : #614076;

Details

Origin ID

614076;

UMLS CUI

C3279756;

Automatic exact mappings (from CISMeF team)
- dystrobrevin binding protein 1 [ORDO Gene]
- dystrobrevin binding protein 1 [HGNC gene]
Currated CISMeF NLP mapping
- Hermansky-Pudlak syndrome 7 [DO Concept]
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency [ORDO Disease]
- Hermansky-Pudlak syndrome type 7 [ICD-11 More detail]
DO Cross reference
- Hermansky-Pudlak syndrome 7 [DO Concept]
Genes related to phenotype
- Dystrobrevin-binding protein 1 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Impaired platelet aggregation [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hermansky-Pudlak syndrome 7 [DO Concept]
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency [ORDO Disease]
- Hermansky-Pudlak syndrome type 7 [ICD-11 More detail]
Validated automatic mappings to NTBT
- Hermansky-Pudlak syndrome [ORDO Disease]

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