Hermansky-pudlak syndrome 8

Preferred Label : Hermansky-pudlak syndrome 8;

Symbol : HPS8;

CISMeF acronym : HPS8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the biogenesis of lysosome-related organelles complex 1, subunit 3 gene (BLOC1S3, 609762.0001);

Prefixed ID : #614077;

Details

Origin ID

614077;

UMLS CUI

C3888026;

Automatic exact mappings (from CISMeF team)
- biogenesis of lysosomal organelles complex 1 subunit 3 [ORDO Gene]
- biogenesis of lysosomal organelles complex 1 subunit 3 [HGNC gene]
Currated CISMeF NLP mapping
- Hermansky-Pudlak syndrome 8 [DO Concept]
- Hermansky-Pudlak syndrome type 8 [ICD-11 More detail]
- Hermansky-Pudlak syndrome type 8 [ORDO Disease]
DO Cross reference
- Hermansky-Pudlak syndrome 8 [DO Concept]
Genes related to phenotype
- Biogenesis of lysosome-related organelles complex 1, subunit 3 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Albinism [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Esotropia [HPO term]
- Exotropia [HPO term]
- Gingival bleeding [HPO term]
- Horizontal nystagmus [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the fovea [HPO term]
- Impaired platelet aggregation [HPO term]
- Menorrhagia [HPO term]
- Myopia [HPO term]
- Ocular albinism [HPO term]
- Optic disc pallor [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]
- Hermansky-Pudlak syndrome type 8 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hermansky-Pudlak syndrome 8 [DO Concept]
- Hermansky-Pudlak syndrome type 8 [ICD-11 More detail]
Validated automatic mappings to NTBT
- Hermansky-Pudlak syndrome [ORDO Disease]

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