Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/108650 http://purl.bioontology.org/ontology/OMIM/108650
Preferred Name	SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT
Synonyms	SPASTIC ATAXIA WITH CONGENITAL MIOSIS SPAX7 MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPASTIC ATAXIA WITH CONGENITAL MIOSIS SPAX7 MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA
prefLabel	SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT
Scope Statement	Variable age at onset (range childhood to adult) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036430 http://purl.bioontology.org/ontology/OMIM/MTHU000284 http://purl.bioontology.org/ontology/OMIM/MTHU036436 http://purl.bioontology.org/ontology/OMIM/MTHU036433 http://purl.bioontology.org/ontology/OMIM/MTHU036431 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU036429 http://purl.bioontology.org/ontology/OMIM/MTHU036432 http://purl.bioontology.org/ontology/OMIM/MTHU036435 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	108650
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1862441
OMIM Entry Type	5
OMIM MimType Value	perc

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