Griscelli Syndrome Type 2

Preferred Label : Griscelli Syndrome Type 2;

NCIt synonyms : PAID Syndrome; GS2; Partial Albinism and Immunodeficiency Syndrome;

NCIt definition : A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.;

Details

Origin ID

C111814;

UMLS CUI

C1868679;

Automatic exact mappings (from CISMeF team)
- Griscelli syndrome [DO Concept]
- Patatin-like phospholipase domain-containing protein 4 [OMIM gene]
- RAB27A, member RAS oncogene family [ORDO Gene]
Currated CISMeF NLP mapping
- Griscelli syndrome type 2 [ORDO Disease]
- Griscelli syndrome type 2 [ICD-11 More detail]
- Griscelli syndrome type 2 [MeSH concept]
- Griscelli syndrome type 2 [DO Concept]
- Griscelli syndrome, type 2 [OMIM Phenotype]
- griscelli syndrome type 2 [MeSH Supplementary Concept]
DO Cross reference
- Griscelli syndrome type 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Griscelli syndrome type 2 [ORDO Disease]
- Griscelli syndrome type 2 [DO Concept]
- Griscelli syndrome type 2 [MeSH concept]
- Griscelli syndrome type 2 [ICD-11 More detail]
- Griscelli syndrome, type 2 [OMIM Phenotype]
- griscelli syndrome type 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Griscelli syndrome [ORDO Disease]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RAB27A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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