Hermansky-pudlak syndrome 4

Preferred Label : Hermansky-pudlak syndrome 4;

Symbol : HPS4;

CISMeF acronym : HPS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene (HPS4, 606682.0001);

Prefixed ID : #614073;

Details

Origin ID

614073;

UMLS CUI

C3484357;

Currated CISMeF NLP mapping
- Hermansky-Pudlak syndrome 4 [DO Concept]
DO Cross reference
- Hermansky-Pudlak syndrome 4 [DO Concept]
Genes related to phenotype
- Hps4 biogenesis of lysosomal organelles complex 3, subunit 2 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal platelet granules [HPO term]
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Horizontal nystagmus [HPO term]
- Hypoplasia of the fovea [HPO term]
- Menorrhagia [HPO term]
- Ocular albinism [HPO term]
- Pulmonary fibrosis [HPO term]
- Reduced visual acuity [HPO term]
- Restrictive ventilatory defect [HPO term]
ORDO concept(s)
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency [ORDO Disease]
See also inter- (CISMeF)
- HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [ORDO Gene]
- Hermansky-Pudlak syndrome 4 [DO Concept]
Validated automatic mappings to NTBT
- Hermansky-Pudlak syndrome [ORDO Disease]

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