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Term:otospondylomegaepiphyseal dysplasia
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Accession:DOID:0080026 term browser browse the term
Definition:An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. (DO)
Synonyms:exact_synonym: Insley-Astley syndrome;   Megaepiphyseal Dwarfism;   NANCE-INSLEY SYNDROME;   NANCE-SWEENEY CHONDRODYSPLASIA;   OSMED;   OSMEDB;   Oto-Spondylo-Mega-Epiphyseal Dysplasia;   chondrodystrophy with sensorineural deafness;   mega-epiphyseal dwarfism;   oto-spondylo-megaepiphyseal dysplasia
 related_synonym: WZS, formerly;   Weissenbacher-Zweymuller syndrome, formerly
 primary_id: MESH:C536140
 alt_id: OMIM:215150;   RDO:0001593;   RDO:0008250
 xref: OMIM:PS184840
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otospondylomegaepiphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      bone development disease 1008
        osteochondrodysplasia 414
          otospondylomegaepiphyseal dysplasia 2
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        sensory system disease 4697
          Otorhinolaryngologic Diseases 1078
            auditory system disease 686
              Hearing Disorders 570
                Hearing Loss 566
                  sensorineural hearing loss 460
                    otospondylomegaepiphyseal dysplasia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.