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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 TBC1D24 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: OMIM:220500
 xref: GARD:1685;   ORDO:79500
For additional species annotation, visit the Alliance of Genome Resources.



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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, MENTAL RETARDATION, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome | ClinVar Annotator: match by term: Deafness onychodystrophy osteodystrophy and mental retardation syndrome OMIM
ClinVar
PMID:20727515 PMID:22211675 PMID:23526554 PMID:23806086 PMID:24033266 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 18256
    syndrome 9802
      DOORS syndrome 1
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            Otorhinolaryngologic Diseases 1678
              auditory system disease 1081
                Hearing Disorders 820
                  Hearing Loss 816
                    sensorineural hearing loss 669
                      DOORS syndrome 1
paths to the root