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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: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 dysostosis;   cleidocranial dysplasias
 narrow_synonym: CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE;   severe cleidocranial dysplasia with osteoporosis and scoliosis
 primary_id: MESH:D002973
 alt_id: OMIM:119600
 xref: GARD:6118;   ICD10CM:Q74.0;   NCI:C75020;   ORDO:1452
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cleidocranial dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpb CCAAT/enhancer binding protein beta ISS OMIM:119600 | OMIM:216330 MouseDO NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Rnf146 ring finger protein 146 ISS OMIM:119600 | OMIM:216330 MouseDO NCBI chr 1:30,856,923...30,873,814
Ensembl chr 1:30,863,217...30,873,808
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO DNA:insertion,DNA:point mutation:exon:W283X
ClinVar Annotator: match by term: Cleidocranial dysostosis
ClinVar Annotator: match by OMIM:119600
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9182765, PMID:9207800, PMID:10521292, PMID:10545612, PMID:12081718, PMID:12424590, PMID:14688224, PMID:15952089, PMID:17022082, PMID:20357738, PMID:20648631, PMID:25741868, PMID:26380986, PMID:27993330, PMID:28492532, PMID:9182765 RGD:1601649 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar NCBI chr 9:18,249,565...18,604,814
Ensembl chr 9:18,319,246...18,371,856
JBrowse link
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only ClinVar PMID:10545612 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by null ClinVar PMID:9182765 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:14571277 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome
ClinVar Annotator: match by term: Yunis Varon syndrome
ClinVar Annotator: match by OMIM:216340
OMIM
ClinVar
PMID:2319578, PMID:7496176, PMID:20932945, PMID:21705420, PMID:23489662, PMID:23623387, PMID:25741868, PMID:28492532 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis Varon syndrome ClinVar NCBI chr19:40,927,007...41,029,206
Ensembl chr19:40,927,007...41,029,206
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                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.