Details of Disease | DrugMAP

General Information of Disease (ID: DIS2E6PV)

Disease Name	Autosomal recessive omodysplasia
Synonyms	micromelic dysplasia, congenital, with dislocation of radius; omodysplasia generalized form; omodysplasia, generalised form; omodysplasia autosomal recessive; omodysplasia 1; micromelic dysplasia congenita with dislocation of radius; omodysplasia generalised form; omodysplasia, generalized form; OMOD1; micromelic dysplasia-dislocation of radius syndrome; autosomal recessive omodysplasia; omodysplasia, autosomal recessive; omodysplasia type 1
Definition	Autosomal recessive form of omodysplasia.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISREAME: Omodysplasia DIS2E6PV: Autosomal recessive omodysplasia
Disease Identifiers	MONDO ID MONDO_0009779 MESH ID C537746 UMLS CUI C1850318 OMIM ID 258315 MedGen ID 340513 Orphanet ID 93329 SNOMED CT ID 725166005

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
GPC6	OTNJBESF	Strong	Autosomal recessive	[1]
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References

1	Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet. 2009 Jun;84(6):760-70. doi: 10.1016/j.ajhg.2009.05.002. Epub 2009 May 28.