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(Q5160420)
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English
Congenital distal spinal muscular atrophy
hereditary condition characterized by muscle wasting
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
Distal hereditary motor neuropathies
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genetic association
TRPV4
1 reference
stated in
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Identifiers
ICD-10 ID
G12.2
0 references
Medical Dictionary for Regulatory Activities ID
10028002
1 reference
reference URL
https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx
based on heuristic
inferred by common ICD-10 mappings on Wikidata and on source
Microsoft Academic ID
2778642942
0 references
2909728367
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OMIM ID
600175
1 reference
imported from Wikimedia project
English Wikipedia
Orphanet ID
1216
0 references
WikiProjectMed ID
Congenital distal spinal muscular atrophy
0 references
Sitelinks
Wikipedia
(2 entries)
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arwiki
ضمور العضلات الشوكي القاصي الخلقي
enwiki
Congenital distal spinal muscular atrophy
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