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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:A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene.
Synonyms:exact_synonym: CMD1;   CMPD;   CMPD1;   CMPD1/SRA1;   Campomelic Syndrome;   acampomelic campomelic dysplasia;   acampomelic campomelic dysplasia with autosomal sex reversal;   acampomelic campomelic dysplasias;   campomelic dwarfism;   campomelic dwarfisms;   campomelic dysplasias;   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: Camptomelic dysplasia
ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal
ClinVar Annotator: match by synonym: Acampomelic campomelic dysplasia
ClinVar Annotator: match by OMIM:114290
OMIM
ClinVar
PMID:1809232, PMID:7485151, PMID:7990924, PMID:8001137, PMID:8894698, PMID:9002675, PMID:10951468, PMID:11323423, PMID:11371614, PMID:11446414, PMID:12783851, PMID:15806394, PMID:19033726, PMID:19449405, PMID:19921652, PMID:21373255, PMID:24038782, PMID:25741868, PMID:25983619, PMID:26633542, PMID:28492532 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
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 null
ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal
ClinVar PMID:1809232, PMID:7485151, PMID:7990924, PMID:8001137, PMID:8894698, PMID:9002675, PMID:11076045, PMID:11323423, PMID:15806394, PMID:25741868, PMID:26633542, PMID:28492532 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        Musculoskeletal Abnormalities 1755
          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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.