Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Griscelli syndrome type 1
Synonyms	Griscelli syndrome, cutaneous and neurologic type
ID	http://purl.bioontology.org/ontology/MESH/C537301
altLabel	Griscelli syndrome, cutaneous and neurologic type Griscelli syndrome with neurologic impairment Griscelli Syndrome, Type 1 Partial albinism and primary neurologic disease without hemophagocytic syndrome
cui	C1859194
HM	D016116 D010859 D006319
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D006319 http://purl.bioontology.org/ontology/MESH/D010859 http://purl.bioontology.org/ontology/MESH/D016116
MDA	20100825
MeSH Frequency	9
MMR	20121105
notation	C537301
prefLabel	Griscelli syndrome type 1
SC	3
TERMUI	T742126 T807506 T742128 T742129 T742131
TH	ORD (2010) OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0060832	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/OMIM/214450	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/214450	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/160777	Online Mendelian Inheritance in Man	CUI