Hermansky-pudlak syndrome 3

Preferred Label : Hermansky-pudlak syndrome 3;

Symbol : HPS3;

CISMeF acronym : HPS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene (HPS3, 606118.0001);

Prefixed ID : #614072;

Details

Origin ID

614072;

UMLS CUI

C3888001;

Currated CISMeF NLP mapping
- Hermansky-Pudlak syndrome 3 [DO Concept]
DO Cross reference
- Hermansky-Pudlak syndrome 3 [DO Concept]
Genes related to phenotype
- Hps3 biogenesis of lysosomal organelles complex 2, subunit 1 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal number of dense granules [HPO term]
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Congenital nystagmus [HPO term]
- Esotropia [HPO term]
- Gingival bleeding [HPO term]
- Horizontal nystagmus [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the skin [HPO term]
- Impaired platelet aggregation [HPO term]
- Juvenile onset [HPO term]
- Nystagmus [HPO term]
- Reduced visual acuity [HPO term]
- Spontaneous, recurrent epistaxis [HPO term]
- Visual impairment [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)
- HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 [ORDO Gene]
- Hermansky-Pudlak syndrome 3 [DO Concept]
Validated automatic mappings to NTBT
- Hermansky-Pudlak syndrome [ORDO Disease]

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