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Griscelli Syndrome Type 3 (MONDO:0012220)

A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.

Overview

Category

integumentary system disorder

syndromic disease

Ontology ID

MONDO:0012220

Internal:13281

Synonyms

GS3

Griscelli syndrome type 3

Griscelli-PruniC)ras syndrome type 3

Griscelli-Pruniéras syndrome type 3

Griscelli-Pruni��ras syndrome type 3

Griscelli disease type 3

Griscelli syndrome, type 3

hypomelanosis with no immunologic or neurologic manifestations

Mapped terms

DOID:0060834

GARD:0009715

MEDGEN:373124

MESH:C537303

OMIM:609227

Orphanet:79478

UMLS:C1836573

icd11.foundation:1959052636

Child terms

Unknown children.

Results

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