Details of Disease | DrugMAP

General Information of Disease (ID: DISAAEON)

Disease Name	Oculodentodigital dysplasia, autosomal recessive
Synonyms	oculodentoosseous dysplasia, autosomal recessive; ODDD, autosomal recessive; ODOD, autosomal recessive; ODOD recessive; oculodentoosseous dysplasia recessive; oculodentodigital dysplasia, autosomal recessive; autosomal recessive oculodentodigital dysplasia
Definition	Autosomal recessive form of oculodentodigital dysplasia.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISSWR9C: Oculodentodigital dysplasia DISAAEON: Oculodentodigital dysplasia, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009768 MESH ID C567605 UMLS CUI C2749477 OMIM ID 257850 MedGen ID 412708

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJA1	TT4F7SL	Strong	CausalMutation	[1]
GJA1	TT4F7SL	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJA1	OTT94MKL	Definitive	Autosomal recessive	[2]
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References

1	Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.Mol Biol Cell. 2016 Jul 15;27(14):2172-85. doi: 10.1091/mbc.E16-01-0062. Epub 2016 May 25.
2	Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27.