# autosomal recessive distal spinal muscular atrophy 1

> human disease

**Wikidata**: [Q5282845](https://www.wikidata.org/wiki/Q5282845)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Distal_spinal_muscular_atrophy_type_1)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-distal-spinal-muscular-atrophy-1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000132740/MONDO_0011436)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000132740/Orphanet_98920)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000145794/Orphanet_98920)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)