Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Griscelli syndrome type 1
Synonyms	hypopigmentation-neurologic impairment syndrome
Definitions	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.
ID	http://purl.obolibrary.org/obo/DOID_0060832
database_cross_reference	MESH:C537301 OMIM:214450 ORDO:79476 UMLS_CUI:C1859194 GARD:2566
definition	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.
has exact synonym	hypopigmentation-neurologic impairment syndrome GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1
has_obo_namespace	disease_ontology
id	DOID:0060832
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Griscelli syndrome type 1
notation	DOID:0060832
prefLabel	Griscelli syndrome type 1
subClassOf	http://purl.obolibrary.org/obo/DOID_0060831

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537301	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/214450	Online Mendelian Inheritance in Man	LOOM