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DO Term : Griscelli syndrome type 2 [DOID:0060833] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.

synonyms:
partial albinism and immunodeficiency syndrome,
607624,
Griscelli syndrome with hemophagocytic syndrome,
NCI:C111814,
OMIM:607624,
GARD:4483,
PAID syndrome,
GS2,
UMLS_CUI:C1868679,
ORDO:79477,
Griscelli-Prunieras syndrome type 2,
hypopigmentation-immunodeficiency with or without neurologic impairment syndrome,
MESH:C537302

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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