Deafness, congenital, with onychodystrophy, autosomal dominant

Preferred Label : Deafness, congenital, with onychodystrophy, autosomal dominant;

Symbol : DDOD;

CISMeF acronym : DDOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ddod syndrome;

Description : The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962). See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, V1 subunit B, isoform 2 gene (ATP6B1B2, 606939.0001);

Prefixed ID : #124480;

Détails

Origin ID

124480;

UMLS CUI

C2675730;

Automatic exact mappings (from CISMeF team)
- autosomal dominant congenital deafness with onychodystrophy [DO Concept]
Currated CISMeF NLP mapping
- Autosomal Dominant Congenital Deafness with Onychodystrophy [NCIt concept]
- Autosomal dominant deafness with onychodystrophy syndrome (disorder) [SNOMED CT concept]
- Autosomal dominant deafness-onychodystrophy syndrome [ORDO Disease]
- deafness, congenital, and onychodystrophy, autosomal dominant [MeSH concept]
- deafness, congenital, and onychodystrophy, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant congenital deafness with onychodystrophy [DO Concept]
Genes related to phenotype
- Atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform 2 [OMIM gene]
HPO term(s)
- Absent fifth fingernail [HPO term]
- Absent middle phalanx of 5th finger [HPO term]
- Absent thumbnail [HPO term]
- Absent toenail [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Bilateral triphalangeal thumbs [HPO term]
- Brachydactyly [HPO term]
- Congenital onset [HPO term]
- Conical tooth [HPO term]
- Hidrotic ectodermal dysplasia [HPO term]
- High forehead [HPO term]
- Intellectual disability [HPO term]
- Nail dystrophy [HPO term]
- Selective tooth agenesis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Small fissured dystrophic nails [HPO term]
- Small nail [HPO term]
- Toe syndactyly [HPO term]
- Triphalangeal thumb [HPO term]
ORDO concept(s)
- Autosomal dominant deafness-onychodystrophy syndrome [ORDO Disease]
- Deafness-onychodystrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Dominant Congenital Deafness with Onychodystrophy [NCIt concept]
- Autosomal dominant deafness with onychodystrophy syndrome (disorder) [SNOMED CT concept]
- Autosomal dominant deafness-onychodystrophy syndrome [ORDO Disease]
- deafness, congenital, and onychodystrophy, autosomal dominant [MeSH Supplementary Concept]
- deafness, congenital, and onychodystrophy, autosomal dominant [MeSH concept]

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