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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 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;   campomelic dwarfism;   campomelic dysplasias;   campomelic syndrome;   campomelic syndromes;   camptomelic dysplasia
 broad_synonym: CMPD1/SRA1;   SOX9-related condition
 related_synonym: acampomelic campomelic dysplasia;   acampomelic campomelic dysplasia with autosomal sex reversal
 xref: EFO:0004140;   GARD:10027;   MESH:D055036;   MIM:114290;   MONDO:0007251;   NCI:C120205;   NCI:C84609;   ORDO:140


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campomelic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Camptomelic dysplasia ClinVar PMID:9002675 PMID:10213041 PMID:11371614 PMID:15060123 PMID:25983619 More... NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO
ISS 		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: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related condition
OMIM:114290
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chr10:98,305,744...98,311,250
Ensembl chr10:98,305,744...98,311,250 		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 chr10:98,305,744...98,311,250
Ensembl chr10:98,305,744...98,311,250 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      bone development disease 2347
        osteochondrodysplasia 836
          campomelic dysplasia 2
            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 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        genetic disease 13375
          monogenic disease 10875
            autosomal genetic disease 10343
              autosomal dominant disease 6051
                campomelic dysplasia 2
                  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