Oculodentodigital dysplasia, autosomal recessive

Preferred Label : Oculodentodigital dysplasia, autosomal recessive;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Odod, autosomal recessive; Oddd, autosomal recessive; Oculodentoosseous dysplasia, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-1 gap junction protein gene (GJA1, 121014.0016);

Prefixed ID : #257850;

Details

Origin ID

257850;

UMLS CUI

C2749477;

Broader ORDO disease(s)
- Oculodentodigital dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- oculodentodigital dysplasia, autosomal recessive [MeSH concept]
- oculodentodigital dysplasia, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- oculodentodigital dysplasia [DO Concept]
Genes related to phenotype
- Gap junction protein, alpha-1 [OMIM gene]
HPO term(s)
- 2-4 toe cutaneous syndactyly [HPO term]
- 4-5 finger syndactyly [HPO term]
- Abnormal dental enamel morphology [HPO term]
- Abnormality of dental morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad long bones [HPO term]
- Cataract [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Fifth finger distal phalanx clinodactyly [HPO term]
- Fine hair [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of teeth [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Large earlobe [HPO term]
- Large fontanelles [HPO term]
- Long nose [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrodontia of permanent maxillary central incisor [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Mild global developmental delay [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Narrow nose [HPO term]
- Persistent pupillary membrane [HPO term]
- Short foot [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Sparse eyelashes [HPO term]
- Telecanthus [HPO term]
- Thin vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Oculodentodigital dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- oculodentodigital dysplasia, autosomal recessive [MeSH Supplementary Concept]
- oculodentodigital dysplasia, autosomal recessive [MeSH concept]
Validated automatic mappings to NTBT
- oculodentodigital dysplasia [DO Concept]

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