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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, And Mental Retardation Syndrome;   Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome;   Digitorenocerebral Syndrome;   Eronen syndrome;   autosomal recessive deafness-onychodystrophy syndrome;   brachydactyly due to absence of distal phalanges;   deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome;   deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome;   deafness-onychoosteodystrophy-intellectual disability 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: Digitorenocerebral syndrome
ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME
ClinVar Annotator: match by term: DOORS syndrome
OMIM
ClinVar
PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:27502353 PMID:28292732 PMID:28428906 PMID:28492532 PMID:29100083 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      DOORS syndrome 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            disease of mental health 6930
              developmental disorder of mental health 4270
                specific developmental disorder 3534
                  intellectual disability 3387
                    DOORS syndrome 1
paths to the root