Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	SPECTRIN, BETA, NONERYTHROCYTIC, 2
Synonyms	SPECTRIN, BETA-III
ID	http://purl.bioontology.org/ontology/OMIM/604985
altLabel	SPECTRIN, BETA-III GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41 GTRAP41 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 SPINOCEREBELLAR ATAXIA 5 SPTBN2
cui	C4706415 C1420389 C0752123
Gene Locus	11q13
Gene Symbol	SCAR14 SPTBN2 SCA5
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/604985.0007 http://purl.bioontology.org/ontology/OMIM/604985.0002 http://purl.bioontology.org/ontology/OMIM/604985.0004 http://purl.bioontology.org/ontology/OMIM/604985.0005 http://purl.bioontology.org/ontology/OMIM/604985.0001 http://purl.bioontology.org/ontology/OMIM/604985.0003 http://purl.bioontology.org/ontology/OMIM/604985.0006
MIMTYPEMEANING	Gene with known sequence
Moved from	605707
notation	604985
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	SPECTRIN, BETA, NONERYTHROCYTIC, 2
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/763351003	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/719302009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/763351003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020754	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/719302009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D020754	MESH	CUI
http://www.orpha.net/ORDO/Orphanet_119851	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15554	HRDO	LOOM