Griscelli syndrome, type 3

Preferred Label : Griscelli syndrome, type 3;

Symbol : GS3;

CISMeF acronym : GS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the melanophilin gene (MLPH, 606526.0001); Caused by mutation in the myosin 5a gene (MYO5A, 160777.0004);

Prefixed ID : #609227;

Details

Origin ID

609227;

UMLS CUI

C1836573;

Automatic exact mappings (from CISMeF team)
- DnaJ heat shock protein family (Hsp40) member C21 [ORDO Gene]
- DnaJ heat shock protein family (Hsp40) member C21 [HGNC gene]
Broader ORDO disease(s)
- Griscelli syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Griscelli syndrome type 3 [DO Concept]
- Griscelli syndrome type 3 [ICD-11 More detail]
- Griscelli syndrome type 3 [MeSH concept]
- Griscelli syndrome type 3 [ORDO Disease]
- griscelli syndrome type 3 [MeSH Supplementary Concept]
DO Cross reference
- Griscelli syndrome type 3 [DO Concept]
Genes related to phenotype
- Melanophilin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Heterogeneous [HPO term]
- Large clumps of pigment irregularly distributed along hair shaft [HPO term]
- Silver-gray hair [HPO term]
- White eyelashes [HPO term]
Not associated HPO term(s)
- Abnormality of the nervous system [HPO term]
- Immunodeficiency [HPO term]
ORDO concept(s)
- Griscelli syndrome [ORDO Disease]
- Griscelli syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Griscelli syndrome type 3 [ORDO Disease]
- Griscelli syndrome type 3 [MeSH concept]
- Griscelli syndrome type 3 [DO Concept]
- Hypopigmentation-immunodeficiency disease type 3 (disorder) [SNOMED CT concept]
- griscelli syndrome type 3 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Griscelli syndrome [ORDO Disease]

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