Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	GRISCELLI SYNDROME, TYPE 1
Synonyms	GS1
ID	http://purl.bioontology.org/ontology/OMIM/214450
altLabel	GS1 GRISCELLI SYNDROME WITH NEUROLOGIC IMPAIRMENT GRISCELLI SYNDROME, CUTANEOUS AND NEUROLOGIC TYPE PARTIAL ALBINISM AND PRIMARY NEUROLOGIC DISEASE WITHOUT HEMOPHAGOCYTIC SYNDROME
cui	C1859194
Gene Locus	15q21
Gene Symbol	MYO5A GS1 MYH12
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU026232 http://purl.bioontology.org/ontology/OMIM/MTHU027807 http://purl.bioontology.org/ontology/OMIM/MTHU001090 http://purl.bioontology.org/ontology/OMIM/MTHU001560 http://purl.bioontology.org/ontology/OMIM/MTHU003038 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU026231 http://purl.bioontology.org/ontology/OMIM/MTHU027808 http://purl.bioontology.org/ontology/OMIM/MTHU027806 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU003037 http://purl.bioontology.org/ontology/OMIM/MTHU003039 http://purl.bioontology.org/ontology/OMIM/MTHU001089 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU027809
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	214450
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	GRISCELLI SYNDROME, TYPE 1
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C537301	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C537301	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_0060832	Human Disease Ontology 123	LOOM