Griscelli syndrome type 1

Preferred Label : Griscelli syndrome type 1;

ICD-11 definition : This syndrome is characterized by pigmentary dilution of hair and skin and primary neurologic abnormalities resulted from mutations in MYO5A gene.;

ICD-11 synonym : GS1 - [Griscelli syndrome type 1]; Partial albinism with primary neurological impairment; GS1 - [Griscelli syndrome type 1] (MIM 214450);

ICD-11 acronym : GS1;

Details

Origin ID

875700770;

Currated CISMeF NLP mapping
- Griscelli syndrome type 1 [ORDO Disease]
- Griscelli syndrome type 1 [MeSH concept]
- Griscelli syndrome type 1 [DO Concept]
- Griscelli syndrome, type 1 [OMIM Phenotype]
- griscelli syndrome type 1 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- MYO5A wt Allele [NCIt concept]
- myosin VA [ORDO Gene]

Keyword's position in hierarchy(ies) :

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