Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome

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;

Détails

Origin ID

220500;

UMLS CUI

C0795934;

Automatic exact mappings (from CISMeF team)
- Door [NCIt concept]
Currated CISMeF NLP mapping
- DOOR syndrome [MedDRA Preferred Term]
- DOORS syndrome [DO Concept]
- DOORS syndrome [ORDO Disease]
- Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Digitorenocerebral syndrome [ORDO Disease]
- digitorenocerebral syndrome [MeSH concept]
- digitorenocerebral syndrome [MeSH Supplementary Concept]
DO Cross reference
- DOORS syndrome [DO Concept]
False automatic mappings
- Deafness-onychodystrophy syndrome [ORDO Disease]
Genes related to phenotype
- Tbc1 domain family, member 24 [OMIM gene]
HPO term(s)
- Anonychia [HPO term]
- Anteverted nares [HPO term]
- Aplastic/hypoplastic fingernails [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Blindness [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarse facial features [HPO term]
- Congenital hearing loss [HPO term]
- Cystic renal dysplasia [HPO term]
- Dandy-Walker malformation [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Generalized hypotonia [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High myopia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic fingernail [HPO term]
- Hypoplastic toenails [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Increased urine alpha-ketoglutarate concentration [HPO term]
- Intellectual disability [HPO term]
- Large nose [HPO term]
- Long philtrum [HPO term]
- Long thumb [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Open mouth [HPO term]
- Optic atrophy [HPO term]
- Patent ductus arteriosus [HPO term]
- Polyneuropathy [HPO term]
- Progressive [HPO term]
- Ptosis [HPO term]
- Renal agenesis [HPO term]
- Seizure [HPO term]
- Sensorineural deafness [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short 5th finger [HPO term]
- Short distal phalanx of finger [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick, everted lower lip [HPO term]
- Thickened nuchal skin fold [HPO term]
- Thin upper lip vermilion [HPO term]
- Triphalangeal thumb [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- DOORS syndrome [ORDO Disease]
- Deafness-onychodystrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DOOR syndrome [MedDRA Preferred Term]
- Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Digitorenocerebral syndrome [ORDO Disease]
- digitorenocerebral syndrome [MeSH Supplementary Concept]
- digitorenocerebral syndrome [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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