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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/253400
http://purl.bioontology.org/ontology/OMIM/253400
|
|---|---|
| Preferred Name | SPINAL MUSCULAR ATROPHY, TYPE III |
| Synonyms |
KUGELBERG-WELANDER SYNDROME
SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM
KWS
SMA3
MUSCULAR ATROPHY, JUVENILE
SMA III
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
KUGELBERG-WELANDER SYNDROME
SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM
KWS
SMA3
MUSCULAR ATROPHY, JUVENILE
SMA III
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|---|---|
| prefLabel | SPINAL MUSCULAR ATROPHY, TYPE III
|
| Gene Symbol | SMN2
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| Scope Statement | Onset usually in childhood or adolescence [MISCELLANEOUS]
Individuals develop ability to stand and walk [MISCELLANEOUS]
Deletions in NAIP gene (600355) found in 18% of SMA2 patients [MISCELLANEOUS]
Caused by mutation in the survival of motor neuron 1 gene (SMN1, 600354.0003) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
Presentation after 18 months [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 5q12.2-q13.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 253400
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0152109
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |