Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
Synonyms

OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE
ID

http://purl.bioontology.org/ontology/OMIM/257850
altLabel

OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE

ODDD, AUTOSOMAL RECESSIVE

ODOD, AUTOSOMAL RECESSIVE
cui

C2749477
Gene Locus

5q22.31
Gene Symbol

CMDR

EKVP3

HSS

ODOD

SDTY3

GJA1

ODDD

CX43
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU045570

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU004212

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU011816

http://purl.bioontology.org/ontology/OMIM/MTHU025464

http://purl.bioontology.org/ontology/OMIM/MTHU045571

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU034073

http://purl.bioontology.org/ontology/OMIM/MTHU003865

http://purl.bioontology.org/ontology/OMIM/MTHU045575

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU003105

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU045569

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU045564

http://purl.bioontology.org/ontology/OMIM/MTHU001511

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU002016

http://purl.bioontology.org/ontology/OMIM/MTHU045574

http://purl.bioontology.org/ontology/OMIM/MTHU045572

http://purl.bioontology.org/ontology/OMIM/MTHU002115

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU006492

http://purl.bioontology.org/ontology/OMIM/MTHU002944

http://purl.bioontology.org/ontology/OMIM/MTHU005627

http://purl.bioontology.org/ontology/OMIM/MTHU045567

http://purl.bioontology.org/ontology/OMIM/MTHU045568

http://purl.bioontology.org/ontology/OMIM/MTHU001753

http://purl.bioontology.org/ontology/OMIM/MTHU003098

http://purl.bioontology.org/ontology/OMIM/MTHU019722

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU045573

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU045566

http://purl.bioontology.org/ontology/OMIM/MTHU045565

http://purl.bioontology.org/ontology/OMIM/MTHU036356

http://purl.bioontology.org/ontology/OMIM/MTHU030452
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

257850
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
Scope Statement

Caused by mutation in the alpha-1 gap junction protein gene (GJA1, 121014.0016) [MOLECULAR BASIS]
tui

T047
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