autosomal dominant proximal spinal muscular atrophy
http://purl.obolibrary.org/obo/MONDO_0016224
Autosomal dominant form of proximal spinal muscular atrophy. [ MONDO:patterns/autosomal_dominant ]
Term info
database cross reference
- Orphanet:211037 (MONDO:equivalentTo)
- UMLS:CN229044 (MONDO:equivalentTo)
Subsets
disease_grouping, ordo_group_of_disorders
definition
Autosomal dominant form of proximal spinal muscular atrophy.
exactMatch
http://linkedlifedata.com/resource/umls/id/CN229044, http://purl.obolibrary.org/obo/Orphanet_211037
has exact synonym
proximal spinal muscular atrophy, autosomal dominant
id
MONDO:0016224