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;
Origin ID : 124480;
UMLS CUI : C2675730;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)