Preferred Label : Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and
seizures syndrome;
Symbol : DOORS;
CISMeF acronym : DOORS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Digitorenocerebral syndrome; Door syndrome; Eronen syndrome; Brachydactyly due to absence of distal phalanges; Drc syndrome; Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome;
Description : The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and
mental retardation. Cantwell (1975) suggested this designation for the disorder, which
can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance
is autosomal recessive. See also DDOD syndrome (124480), which shows autosomal dominant
inheritance of congenital deafness and onychodystrophy without mental retardation.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0007);
Laboratory abnormalities : Increased serum and urinary 2-oxoglutarate;
Prefixed ID : #220500;
Origin ID : 220500;
UMLS CUI : C0795934;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)