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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 Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25741868 NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278 		JBrowse link
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:1029242 PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      DOORS syndrome 2
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11163
        Neurologic Manifestations 10417
          sensory system disease 7326
            Otorhinolaryngologic Diseases 1791
              auditory system disease 1051
                Hearing Disorders 839
                  Hearing Loss 834
                    sensorineural hearing loss 642
                      DOORS syndrome 2
paths to the root