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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:campomelic dysplasia
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Accession:DOID:0050463 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. (DO)
Synonyms:exact_synonym: CMD1;   CMPD;   CMPD1;   CMPD1/SRA1;   acampomelic campomelic dysplasia;   acampomelic campomelic dysplasia with autosomal sex reversal;   acampomelic campomelic dysplasias;   campomelic dwarfism;   campomelic dwarfisms;   campomelic dysplasias;   campomelic syndrome;   campomelic syndromes;   camptomelic dysplasia;   camptomelic dysplasias
 narrow_synonym: CMPD1/SRA1 campomelic dysplasia with autosomal sex reversal
 primary_id: MESH:D055036
 alt_id: OMIM:114290
 xref: GARD:10027;   NCI:C120205;   NCI:C84609;   ORDO:140
For additional species annotation, visit the Alliance of Genome Resources.


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campomelic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Camptomelic dysplasia OMIM
ClinVar		 PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994 		JBrowse link
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal ClinVar PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      musculoskeletal system disease 7231
        Musculoskeletal Abnormalities 2774
          campomelic dysplasia 1
            Campomelia Cumming Type 0
            Campomelic Dysplasia with Autosomal Sex Reversal 1
            Camptomelic Syndrome Long Limb Type 0
            Dyssegmental Dysplasia, Rolland-Desbuquois Type 0
            Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
            Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 0
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal dominant disease 5310
                campomelic dysplasia 1
                  Campomelia Cumming Type 0
                  Campomelic Dysplasia with Autosomal Sex Reversal 1
                  Camptomelic Syndrome Long Limb Type 0
                  Dyssegmental Dysplasia, Rolland-Desbuquois Type 0
                  Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 0
                  Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 0
paths to the root