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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:cranioectodermal dysplasia
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Accession:DOID:0050577 term browser browse the term
Definition:A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. (DO)
Synonyms:exact_synonym: Levin syndrome;   Sensenbrenner syndrome
 primary_id: MESH:C562966
 xref: NCI:C129305;   OMIM:PS218330
For additional species annotation, visit the Alliance of Genome Resources.



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cranioectodermal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD
ClinVar
PMID:23826986 PMID:25741868 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Wdr19 WD repeat domain 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD
ClinVar
PMID:23559409 PMID:25726036 PMID:25741868 PMID:26260382 PMID:27596865 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome
CTD
ClinVar
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Gdf7 growth differentiation factor 7 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,171,495...31,182,447
Ensembl chr 6:31,178,119...31,182,447
JBrowse link
G Hs1bp3 HCLS1 binding protein 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,192,519...31,222,835
Ensembl chr 6:31,192,568...31,222,835
JBrowse link
G Laptm4a lysosomal protein transmembrane 4 alpha ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,719,378...31,737,007
Ensembl chr 6:31,718,976...31,737,020
JBrowse link
G Ldah lipid droplet associated hydrolase ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,082,045...31,166,625
Ensembl chr 6:31,082,055...31,166,618
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
JBrowse link
G Pum2 pumilio RNA-binding family member 2 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,462,879...31,542,976
Ensembl chr 6:31,462,872...31,542,976
JBrowse link
G Rhob ras homolog family member B ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108
JBrowse link
G Sdc1 syndecan 1 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:28492532 NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
DNA:missense mutation:cds:p.L520P (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... RGD:11553909 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar
PMID:21378380 PMID:28492532 NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO DNA:missense mutation:cds:p.L750P (mouse)
ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
OMIM
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... RGD:11552606 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      ectodermal dysplasia 428
        cranioectodermal dysplasia 17
          cranioectodermal dysplasia 1 3
          cranioectodermal dysplasia 2 11
          cranioectodermal dysplasia 3 1
          cranioectodermal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Skin and Connective Tissue Diseases 6743
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              dysostosis 440
                synostosis 288
                  craniosynostosis 232
                    cranioectodermal dysplasia 17
                      cranioectodermal dysplasia 1 3
                      cranioectodermal dysplasia 2 11
                      cranioectodermal dysplasia 3 1
                      cranioectodermal dysplasia 4 1
paths to the root