Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways

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
go back to main search page
Accession:DOID:0050463 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. (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: EFO:0004140;   GARD:10027;   MONDO:0007251;   NCI:C120205;   NCI:C84609;   ORDO:140



show annotations for term's descendants           Sort by:
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
ISS
OMIM:114290
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
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 21122
    disease of anatomical entity 18162
      musculoskeletal system disease 8216
        Musculoskeletal Abnormalities 3222
          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 21122
    Developmental Disease 18454
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18314
        genetic disease 18258
          monogenic disease 10240
            autosomal genetic disease 9385
              autosomal dominant disease 6164
                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