Details of Disease | DrugMAP

General Information of Disease (ID: DISBA5QM)

Disease Name	Lower motor neuron syndrome with late-adult onset
Synonyms	spinal muscular atrophy, Jokela type; SMAJ
Disease Hierarchy	DIS0R70E: Proximal spinal muscular atrophy DISBA5QM: Lower motor neuron syndrome with late-adult onset
Disease Identifiers	MONDO ID MONDO_0014025 UMLS CUI C3554398 OMIM ID 615048 MedGen ID 767312 Orphanet ID 276435

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHCHD10	OTCDHAM6	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.