Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

OCULODENTODIGITAL DYSPLASIA
Synonyms

ODOD
ID

http://purl.bioontology.org/ontology/OMIM/164200
altLabel

ODOD

ODDD

ODD SYNDROME

OCULODENTOOSSEOUS DYSPLASIA
cui

C0812437
Gene Locus

5q22.31
Gene Symbol

CMDR

EKVP3

HSS

ODOD

SDTY3

GJA1

ODDD

CX43
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU067314

http://purl.bioontology.org/ontology/OMIM/MTHU016618

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU016623

http://purl.bioontology.org/ontology/OMIM/MTHU067315

http://purl.bioontology.org/ontology/OMIM/MTHU004627

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU004595

http://purl.bioontology.org/ontology/OMIM/MTHU016624

http://purl.bioontology.org/ontology/OMIM/MTHU036340

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

http://purl.bioontology.org/ontology/OMIM/MTHU011633

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

http://purl.bioontology.org/ontology/OMIM/MTHU005528

http://purl.bioontology.org/ontology/OMIM/MTHU016614

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU016609

http://purl.bioontology.org/ontology/OMIM/MTHU036370

http://purl.bioontology.org/ontology/OMIM/MTHU020345

http://purl.bioontology.org/ontology/OMIM/MTHU036695

http://purl.bioontology.org/ontology/OMIM/MTHU016615

http://purl.bioontology.org/ontology/OMIM/MTHU016611

http://purl.bioontology.org/ontology/OMIM/MTHU005587

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU004560

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

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU016622

http://purl.bioontology.org/ontology/OMIM/MTHU016613

http://purl.bioontology.org/ontology/OMIM/MTHU007900

http://purl.bioontology.org/ontology/OMIM/MTHU008445

http://purl.bioontology.org/ontology/OMIM/MTHU036841

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU016612

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU016620

http://purl.bioontology.org/ontology/OMIM/MTHU016616

http://purl.bioontology.org/ontology/OMIM/MTHU005588

http://purl.bioontology.org/ontology/OMIM/MTHU037120

http://purl.bioontology.org/ontology/OMIM/MTHU010787

http://purl.bioontology.org/ontology/OMIM/MTHU036440

http://purl.bioontology.org/ontology/OMIM/MTHU007970

http://purl.bioontology.org/ontology/OMIM/MTHU016621

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

http://purl.bioontology.org/ontology/OMIM/MTHU006726

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU016625

http://purl.bioontology.org/ontology/OMIM/MTHU016617

http://purl.bioontology.org/ontology/OMIM/MTHU016610

http://purl.bioontology.org/ontology/OMIM/MTHU016619

http://purl.bioontology.org/ontology/OMIM/MTHU007744

http://purl.bioontology.org/ontology/OMIM/MTHU067316

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000094
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

164200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

OCULODENTODIGITAL DYSPLASIA
Scope Statement

50% of cases represent new mutations associated with advanced paternal age [MISCELLANEOUS]

Cardiac features are observed in ~3% of cases [MISCELLANEOUS]

Caused by mutation in the connexin 43 gene (GJA1, 121014.0003) [MOLECULAR BASIS]

Neurologic features have been diagnosed in ~30% of cases [MISCELLANEOUS]

Variable phenotype [MISCELLANEOUS]
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10063691 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/38215007 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10063691 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/31291009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/38215007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10063691 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01108 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/31291009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X50Hi RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-00808 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C563160 MESH CUI
http://purl.obolibrary.org/obo/DOID_0060291 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008111 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008111 EFO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063691 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C563160 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008111 DOVES LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2471 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_2710 ORDO LOOM
http://identifiers.org/omim/164200 REXO LOOM
http://identifiers.org/omim/164200 GEXO LOOM
http://identifiers.org/omim/164200 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_164200 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0060291 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060291 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060291 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/C563160 MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000051 DERMO LOOM