Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	SPINAL MUSCULAR ATROPHY, TYPE IV
Synonyms	SPINAL MUSCULAR ATROPHY, ADULT FORM
ID	http://purl.bioontology.org/ontology/OMIM/271150
altLabel	SPINAL MUSCULAR ATROPHY, ADULT FORM SMA4 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL RECESSIVE
cui	C1838230
Gene Locus	5q12.2-q13.3
Gene Symbol	SMA3 SMA2 SMA4 SMA1 SMN1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009358 http://purl.bioontology.org/ontology/OMIM/MTHU003662 http://purl.bioontology.org/ontology/OMIM/MTHU009363 http://purl.bioontology.org/ontology/OMIM/MTHU009361 http://purl.bioontology.org/ontology/OMIM/MTHU004527 http://purl.bioontology.org/ontology/OMIM/MTHU028607 http://purl.bioontology.org/ontology/OMIM/MTHU009359 http://purl.bioontology.org/ontology/OMIM/MTHU009357 http://purl.bioontology.org/ontology/OMIM/MTHU001835 http://purl.bioontology.org/ontology/OMIM/MTHU009360 http://purl.bioontology.org/ontology/OMIM/MTHU001707 http://purl.bioontology.org/ontology/OMIM/MTHU028606
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	271150
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	SPINAL MUSCULAR ATROPHY, TYPE IV
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C563948	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C563948	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/ICD10CM/G12.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI