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spinal muscular atrophy with congenital bone fractures 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.
Uniprot Description An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.
Mondo Term and Equivalent IDs
MONDO:0014807: spinal muscular atrophy with congenital bone fractures 2
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616867
UMLS:C4225176
MONDO:0014807
High level summary of knowledge for a disease, including descriptions and datasource references.