Oculodentodigital Dysplasia (ODDD)

Alias:
Oculodentoosseous Dysplasia
Odd Syndrome
Oculodentodigital Syndrome
Oddd
Odod
Oculo-Dento-Digital Dysplasia
Oculo-Dento-Digital Syndrome
Meyer-Schwickerath Syndrome
Oddd Syndrome
Oculodentodigital Dysplasia Syndrome
Osseous-Oculo-Dental Dysplasia
Oculo-Dento-Osseous Dysplasia
Oculo Dento Digital Dysplasia
Odds
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Oculodentodigital Dysplasia, also known as oculodentoosseous dysplasia, is related to syndactyly, type iii and keratosis. An important gene associated with Oculodentodigital Dysplasia is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Vesicle-mediated transport and Gap junction trafficking. The drugs Ethanol and Pembrolizumab have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are carious teeth and anteverted nares
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
--
20
181
40

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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