Details of Disease | DrugMAP

General Information of Disease (ID: DIS9A4XL)

Disease Name	Prenatal-onset spinal muscular atrophy with congenital bone fractures
Synonyms	spinal muscular atrophy with congenital bone fractures; SMABF
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISMCQP6: Arthrogryposis multiplex congenita DIS6XNI0: Hereditary motor neuron disease DIS9A4XL: Prenatal-onset spinal muscular atrophy with congenital bone fractures
Disease Identifiers	MONDO ID MONDO_0000209 UMLS CUI C5567518 MedGen ID 1798941 Orphanet ID 486811 SNOMED CT ID 1172689007

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
TRIP4	OTA8OASA	Strong	Autosomal recessive	[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.