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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/164200
http://purl.bioontology.org/ontology/OMIM/164200
|
|---|---|
| Preferred Name | OCULODENTODIGITAL DYSPLASIA |
| Synonyms |
ODOD
ODDD
ODD SYNDROME
OCULODENTOOSSEOUS DYSPLASIA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ODOD
ODDD
ODD SYNDROME
OCULODENTOOSSEOUS DYSPLASIA
|
|---|---|
| prefLabel | OCULODENTODIGITAL DYSPLASIA
|
| Gene Symbol |
CMDR
EKVP3
HSS
ODOD
SDTY3
GJA1
ODDD
CX43
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| 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]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q22.31
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 164200
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0812437
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |