Hermansky-pudlak syndrome 6

Preferred Label : Hermansky-pudlak syndrome 6;

Symbol : HPS6;

CISMeF acronym : HPS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene (HPS6, 607522.0001);

Prefixed ID : #614075;

Details

Origin ID

614075;

UMLS CUI

C3888007;

Currated CISMeF NLP mapping
- HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [ORDO Gene]
- Hermansky-Pudlak Syndrome 6 [NCIt concept]
- Hermansky-Pudlak syndrome 6 [DO Concept]
DO Cross reference
- Hermansky-Pudlak syndrome 6 [DO Concept]
Genes related to phenotype
- Hps6 biogenesis of lysosomal organelles complex 2, subunit 3 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal platelet granules [HPO term]
- Absent foveal reflex [HPO term]
- Albinism [HPO term]
- Amblyopia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Ecchymosis [HPO term]
- Epistaxis [HPO term]
- Global developmental delay [HPO term]
- Hypopigmentation of the skin [HPO term]
- Impaired ADP-induced platelet aggregation [HPO term]
- Macular hypoplasia [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Photophobia [HPO term]
- Prolonged bleeding time [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Reduced visual acuity [HPO term]
- Strabismus [HPO term]
Not associated HPO term(s)
- Pulmonary fibrosis [HPO term]
ORDO concept(s)
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [ORDO Gene]
- Hermansky-Pudlak Syndrome 6 [NCIt concept]
- Hermansky-Pudlak syndrome 6 [DO Concept]
Validated automatic mappings to NTBT
- Hermansky-Pudlak syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients