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ONTOLOGY REPORT - ANNOTATIONS


Term:cleidocranial dysplasia
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Accession:DOID:13994 term browser browse the term
Definition:Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.
Synonyms:exact_synonym: CCD;   Marie Sainton syndrome;   Marie-Sainton disease;   Scheuthauer Marie Sainton syndrome;   cleidocranial digital dysostoses;   cleidocranial digital dysostosis;   cleidocranial dysostoses;   cleidocranial dysplasias
 narrow_synonym: CLCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY;   CLEIDOCRANIAL DYSOSTOSIS;   CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE;   CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY;   severe cleidocranial dysplasia with osteoporosis and scoliosis
 primary_id: MESH:D002973
 alt_id: OMIM:119600;   RDO:0000086
 xref: GARD:6118;   NCI:C75020;   ORDO:1452
For additional species annotation, visit the Alliance of Genome Resources.


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cleidocranial dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cebpb CCAAT/enhancer binding protein beta JBrowse link 3 164,424,502 164,425,933 RGD:13592920
G Rnf146 ring finger protein 146 JBrowse link 1 30,856,923 30,873,814 RGD:13592920
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:1601649
RGD:8554872
RGD:11554173
RGD:7240710
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link 9 18,249,565 18,604,814 RGD:8554872
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:7240710
RGD:8554872
Yunis-Varon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:7240710
RGD:8554872
G Vac14 VAC14 component of PIKFYVE complex JBrowse link 19 40,927,007 41,029,206 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          cleidocranial dysplasia 7
            Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 1
            Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 1
            Cleidocranial Dysplasia, Recessive Form 0
            Parietal Foramina with Cleidocranial Dysplasia 1
            Yunis-Varon syndrome 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                cleidocranial dysplasia 7
                  Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 1
                  Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 1
                  Cleidocranial Dysplasia, Recessive Form 0
                  Parietal Foramina with Cleidocranial Dysplasia 1
                  Yunis-Varon syndrome 2
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.