Details of Disease | DrugMAP

General Information of Disease (ID: DISWJE4V)

Disease Name	Autosomal dominant omodysplasia
Synonyms	omodysplasia 2; OMOD2; omodysplasia, autosomal dominant
Definition	Autosomal dominant form of omodysplasia.
Disease Hierarchy	DISREAME: Omodysplasia DIS3HIWD: Autosomal dominant disease DISWJE4V: Autosomal dominant omodysplasia
Disease Identifiers	MONDO ID MONDO_0008123 MESH ID C567664 UMLS CUI C2750355 OMIM ID 164745 MedGen ID 413823 Orphanet ID 93328 SNOMED CT ID 725165009

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
FZD2	OT952ML1	Strong	Autosomal dominant	[1]
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References

1	A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. Hum Mol Genet. 2015 Jun 15;24(12):3399-409. doi: 10.1093/hmg/ddv088. Epub 2015 Mar 10.