Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Griscelli syndrome
Synonyms	partial albinism-immunodeficiency syndrome
Definitions	An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.
ID	http://purl.obolibrary.org/obo/DOID_0060831
database_cross_reference	ORDO:381 OMIM:PS214450 ICD10CM:E70.3 GARD:10913
definition	An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.
has exact synonym	partial albinism-immunodeficiency syndrome Chediak-Higashi-like syndrome Griscelli-Prunieras syndrome
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0060831
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Griscelli syndrome
notation	DOID:0060831
prefLabel	Griscelli syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_16

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