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Ontology Browser

Term:
Griscelli syndrome type 2 (DOID:0060833)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Griscelli syndrome +     
Griscelli syndrome type 1  
Griscelli syndrome type 2  
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. (DO)
Griscelli syndrome type 3  

Synonyms
Exact Synonyms: GS2 ;   Griscelli syndrome with hemophagocytic syndrome ;   Griscelli-Prunieras syndrome type 2 ;   Griscelli-PruniĆ©ras syndrome type 2 ;   PAID syndrome ;   Partial albinism and immunodeficiency ;   hypopigmentation-immunodeficiency with or without neurologic impairment syndrome ;   partial albinism and immunodeficiency syndrome ;   partial albinism with immunodeficiency
Primary IDs: MESH:C537302
Alternate IDs: OMIM:607624
Xrefs: GARD:4483 ;   NCI:C111814 ;   ORDO:79477
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/707528 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.