Oculo-dento-digital dysplasia

Preferred Label : Oculo-dento-digital dysplasia;

ICD-11 definition : Oculodentodigital dysplasia (ODDD) is a developmental anomalies syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. It is caused by heterozygous mutations in the GJA1 gene (6q22-q23), which encodes the gap junction protein connexin 43 (Cx43).;

Details

Origin ID

1440334374;

Automatic exact mappings (from CISMeF team)
- Oculodentodigital dysplasia [PASCAL descriptor]
- Oculodentodigital dysplasia [MedDRA Preferred Term]
- Oculodentodigital dysplasia [ORDO Disease]
- Oculodentodigital dysplasia [OMIM Phenotype]
- Oculodentodigital syndrome (disorder) [SNOMED CT concept]
- oculodentodigital dysplasia [DO Concept]
- oculodentodigital dysplasia [MeSH concept]
- oculodentodigital dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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