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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:omodysplasia 1
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Accession:DOID:0080844 term browser browse the term
Definition:An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. (DO)
Synonyms:exact_synonym: OMOD1;   omodysplasia (Maroteaux);   omodysplasia type 1;   omodysplasia, autosomal recessive;   omodysplasia, autosomal recessive form;   omodysplasia, generalized form
 primary_id: MESH:C537746
 alt_id: OMIM:258315
 xref: ORDO:93329
For additional species annotation, visit the Alliance of Genome Resources.


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omodysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc6 glypican 6 ISO ClinVar Annotator: match by OMIM:258315
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Omodysplasia 1
ClinVar Annotator: match by term: Autosomal recessive omodysplasia
OMIM
ClinVar
CTD
PMID:19481194 PMID:28492532 NCBI chr15:102,164,091...103,174,721
Ensembl chr15:102,164,751...103,170,847
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Pathological Conditions, Signs and Symptoms 9879
      Pathologic Processes 6532
        Growth Disorders 765
          omodysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              osteochondrodysplasia 447
                Congenital Micromelic Dysplasia with Dislocation of Radius 1
                  omodysplasia 1 1
paths to the root