ONTOLOGY REPORT - ANNOTATIONS


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 Dwarfism;   Campomelic Dwarfisms;   Campomelic Dysplasias;   Campomelic Syndrome;   Campomelic Syndromes;   Camptomelic Dysplasias;   acampomelic campomelic dysplasia;   acampomelic campomelic dysplasia with autosomal sex reversal;   acampomelic campomelic dysplasias;   camptomelic dysplasia
 narrow_synonym: CMPD1/SRA1 CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
 primary_id: MESH:D055036
 alt_id: OMIM:114290;   RDO:0001079
 xref: GARD:10027
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campomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:7240710
RGD:8554872
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        Musculoskeletal Abnormalities 1191
          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 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal dominant disease 1095
                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
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