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ONTOLOGY REPORT - ANNOTATIONS


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: Brachydactyly due to Absence of Distal Phalanges;   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;   deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome;   deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome;   deafness-onychoosteodystrophy-intellectual disability syndrome
 primary_id: MESH:C563052
 alt_id: DOID:9005956;   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 JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      DOORS syndrome 1
Path 2
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  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            disease of mental health 5642
              developmental disorder of mental health 2813
                specific developmental disorder 1975
                  intellectual disability 1798
                    DOORS syndrome 1
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