Details of Disease | DrugMAP

General Information of Disease (ID: DIS26539)

Disease Name	Opsismodysplasia
Synonyms	OPSMD; OPSISMODYSPLASIA; opsismodysplasia
Definition	Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.
Disease Hierarchy	DISV6ZCN: Severe spondylodysplastic dysplasia DIS26539: Opsismodysplasia
Disease Identifiers	MONDO ID MONDO_0009785 MESH ID C537122 UMLS CUI C0432219 OMIM ID 258480 MedGen ID 140927 Orphanet ID 2746 SNOMED CT ID 254068007

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
INPPL1	OTCDAVBQ	Definitive	Autosomal recessive	[1]
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References

1	Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27.