Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SPINAL MUSCULAR ATROPHY, TYPE I
Synonyms

SMA I
ID

http://purl.bioontology.org/ontology/OMIM/253300
altLabel

SMA I

MUSCULAR ATROPHY, INFANTILE

SMA, INFANTILE ACUTE FORM

SMA1

WERDNIG-HOFFMANN DISEASE
cui

C0043116
Gene Locus

5q12.2-q13.3
Gene Symbol

SMA3

SMA2

SMA4

SMA1

SMN1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011086

http://purl.bioontology.org/ontology/OMIM/MTHU011080

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU028305

http://purl.bioontology.org/ontology/OMIM/MTHU003662

http://purl.bioontology.org/ontology/OMIM/MTHU037032

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU011078

http://purl.bioontology.org/ontology/OMIM/MTHU011076

http://purl.bioontology.org/ontology/OMIM/MTHU023159

http://purl.bioontology.org/ontology/OMIM/MTHU011085

http://purl.bioontology.org/ontology/OMIM/MTHU011088

http://purl.bioontology.org/ontology/OMIM/MTHU011081

http://purl.bioontology.org/ontology/OMIM/MTHU000317

http://purl.bioontology.org/ontology/OMIM/MTHU028306

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU011077

http://purl.bioontology.org/ontology/OMIM/MTHU026024

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU011079
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

253300
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPINAL MUSCULAR ATROPHY, TYPE I
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/G12.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bmicc.cn/ontology/ICD10CN/G12.0 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D014897 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10/G12.0 International Classification of Diseases, Version 10 CUI