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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:DOORS syndrome
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Accession:DOID:0111627 term browser browse the term
Definition:A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: DOOR syndrome;   DOORS;   DRC syndrome;   Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome;   Eronen syndrome;   autosomal recessive deafness-onychodystrophy syndrome;   brachydactyly due to absence of distal phalanges;   deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome;   deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome;   deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome;   deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome;   deafness-onychoosteodystrophy-intellectual disability syndrome;   digitorenocerebral syndrome
 primary_id: MESH:C563052
 alt_id: MIM:220500
 xref: GARD:1685;   ORDO:79500



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DOORS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome | ClinVar Annotator: match by term: Digitorenocerebral syndrome OMIM
ClinVar
PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 PMID:23526554 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10904
      DOORS syndrome 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13381
      Signs and Symptoms 10871
        Neurologic Manifestations 10108
          sensory system disease 7029
            Otorhinolaryngologic Diseases 1738
              auditory system disease 992
                Hearing Disorders 818
                  Hearing Loss 813
                    sensorineural hearing loss 624
                      DOORS syndrome 1
paths to the root