Deafness, congenital, with inner ear agenesis, microtia, and microdontia

Preferred Label : Deafness, congenital, with inner ear agenesis, microtia, and microdontia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness with lamm; Deafness, congenital, with labyrinthine aplasia, microtia, and microdontia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fibroblast growth factor 3 gene (FGF3, 164950.0001);

Prefixed ID : #610706;

Details

Origin ID

610706;

UMLS CUI

C1853144;

Currated CISMeF NLP mapping
- Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder) [SNOMED CT concept]
- Deafness with labyrinthine aplasia, microtia, and microdontia [ORDO Disease]
- deafness, congenital, with inner ear agenesis, microtia, and microdontia [MeSH concept]
- deafness, congenital, with inner ear agenesis, microtia, and microdontia [MeSH Supplementary Concept]
Genes related to phenotype
- Fibroblast growth factor 3 [OMIM gene]
HPO term(s)
- Anteverted ears [HPO term]
- Aplasia of the inner ear [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Conical tooth [HPO term]
- Delayed gross motor development [HPO term]
- Long face [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Microtia, first degree [HPO term]
- Profound sensorineural hearing impairment [HPO term]
- Skin tags [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Deafness with labyrinthine aplasia, microtia, and microdontia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder) [SNOMED CT concept]
- Deafness with labyrinthine aplasia, microtia, and microdontia [ORDO Disease]
- deafness, congenital, with inner ear agenesis, microtia, and microdontia [MeSH Supplementary Concept]
- deafness, congenital, with inner ear agenesis, microtia, and microdontia [MeSH concept]

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