Otodental dysplasia

Preferred Label : Otodental dysplasia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 11q13 deletion syndrome; Otodental syndrome;

Included titles and symbols : Otodental syndrome with coloboma; Oculootodental syndrome;

Description : Otodental syndrome is an autosomal dominant condition characterized by grossly enlarged canine and molar teeth (globodontia), associated with sensorineural hearing loss. Ocular coloboma segregating with otodental syndrome has been reported (summary by Gregory-Evans et al., 2007).;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene deletion syndrome caused by microdeletion (43-490kb) of chromosome 11q13;

Laboratory abnormalities : Microdeletion of chromosome 11q13 (43-490kb);

Prefixed ID : #166750;

Details

Origin ID

166750;

UMLS CUI

C1833693;

Automatic exact mappings (from CISMeF team)
- Oculootodental syndrome [ORDO Disease]
- Oculootodental syndrome (disorder) [SNOMED CT concept]
- oculootodental syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Otodental syndrome [ORDO Disease]
- Otodental syndrome (disorder) [SNOMED CT concept]
- otodental dysplasia [MeSH concept]
- otodental dysplasia [MeSH Supplementary Concept]
HPO term(s)
- Agenesis of premolar [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coloboma [HPO term]
- Delayed eruption of teeth [HPO term]
- Enamel hypoplasia [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Pulp calcification [HPO term]
- Sensorineural hearing impairment [HPO term]
- Taurodontia [HPO term]
- Tooth ankylosis [HPO term]
ORDO concept(s)
- Oculootodental syndrome [ORDO Disease]
- Otodental syndrome [ORDO Disease]
See also inter- (CISMeF)
- oculootodental syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Otodental syndrome [ORDO Disease]
- Otodental syndrome (disorder) [SNOMED CT concept]
- otodental dysplasia [MeSH Supplementary Concept]
- otodental dysplasia [MeSH concept]

Keyword's position in hierarchy(ies) :

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