Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Synonyms	SCAR7
ID	http://purl.bioontology.org/ontology/OMIM/609270
altLabel	SCAR7
cui	C1836474
Gene Locus	11p15.5
Gene Symbol	TPP1 CLN2 SCAR7
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU042948 http://purl.bioontology.org/ontology/OMIM/MTHU042949 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU036372 http://purl.bioontology.org/ontology/OMIM/MTHU042950 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU000928 http://purl.bioontology.org/ontology/OMIM/MTHU000999 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000786 http://purl.bioontology.org/ontology/OMIM/MTHU001003 http://purl.bioontology.org/ontology/OMIM/MTHU001864 http://purl.bioontology.org/ontology/OMIM/MTHU042947 http://purl.bioontology.org/ontology/OMIM/MTHU000773 http://purl.bioontology.org/ontology/OMIM/MTHU000997 http://purl.bioontology.org/ontology/OMIM/MTHU000998 http://purl.bioontology.org/ontology/OMIM/MTHU000874
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609270
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C563753	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C563753	Medical Subject Headings	LOOM