Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Griscelli syndrome type 3
Synonyms	Griscelli-Prunieras syndrome type 3
Definitions	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.
ID	http://purl.obolibrary.org/obo/DOID_0060834
database_cross_reference	OMIM:609227 GARD:9715 UMLS_CUI:C1836573 MESH:C537303 ORDO:79478
definition	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.
has exact synonym	Griscelli-Prunieras syndrome type 3 GS3
has_obo_namespace	disease_ontology
id	DOID:0060834
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Griscelli syndrome type 3
notation	DOID:0060834
prefLabel	Griscelli syndrome type 3
subClassOf	http://purl.obolibrary.org/obo/DOID_0060831

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/609227	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C537303	Medical Subject Headings	LOOM