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Ontology Browser

Term:
Griscelli syndrome type 1 (DOID:0060832)
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  
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. (DO)
Griscelli syndrome type 2  
Griscelli syndrome type 3  

Synonyms
Exact Synonyms: GS1 ;   Griscelli syndrome with neurologic impairment ;   Griscelli syndrome with neurological impairment ;   Griscelli syndrome, cutaneous and neurologic type ;   Griscelli syndrome, cutaneous and neurological type ;   Griscelli-Prunieras syndrome type 1 ;   Griscelli-PruniĆ©ras syndrome type 1 ;   Partial albinism and primary neurologic disease without hemophagocytic syndrome ;   hypopigmentation-neurologic impairment syndrome
Primary IDs: MESH:C537301
Alternate IDs: OMIM:214450
Xrefs: GARD:2566 ;   ORDO:79476
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9207796 "DO"

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