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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:otospondylomegaepiphyseal dysplasia, autosomal recessive
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Accession:DOID:0080026 term browser browse the term
Definition:An osteochondrodysplasia that results from mutations autosomal recessive inheritance of 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;   NANCE-INSLEY SYNDROME;   Nance-Sweeney chondrodysplasia;   OSMED;   OSMEDB;   chondrodystrophy with sensorineural deafness;   mega-epiphyseal dwarfism;   megaepiphyseal dwarfism;   oto-spondylo-mega-epiphyseal dysplasia;   oto-spondylo-megaepiphyseal dysplasia
 related_synonym: WZS, formerly;   Weissenbacher-Zweymuller syndrome, formerly
 primary_id: MESH:C536140
 alt_id: OMIM:215150;   OMIM:249230
 xref: OMIM:PS184840
For additional species annotation, visit the Alliance of Genome Resources.


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otospondylomegaepiphyseal dysplasia, autosomal recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive
ClinVar Annotator: match by term: Insley-Astley syndrome
DNA:missense mutation:exon:p.G175R (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9188673 PMID:10677296 PMID:15558753 PMID:15922184 PMID:16637051 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25741868 PMID:26467025 PMID:26691295, PMID:7859284 RGD:12904710 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insley-Astley syndrome
CTD
ClinVar
PMID:16189708 PMID:25326635 PMID:25741868 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        osteochondrodysplasia 449
          otospondylomegaepiphyseal dysplasia, autosomal recessive 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 624
                Hearing Loss 619
                  sensorineural hearing loss 496
                    otospondylomegaepiphyseal dysplasia, autosomal recessive 2
paths to the root