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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.


show annotations for term's descendants           Sort by:
 
cranioectodermal dysplasia 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 OMIM:218330
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23826986 PMID:25741868 PMID:28492532 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:25741868 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23559409 PMID:25726036 PMID:25741868 PMID:26260382 PMID:27596865 PMID:28492532 PMID:28621010 PMID:32165824 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
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 ClinVar
OMIM
PMID:17022080 PMID:19648123 PMID:19760620 PMID:20493458 PMID:23826986 PMID:25741868 PMID:26792575 PMID:28370949 PMID:28492532 PMID:29037998 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:202,159,659...202,452,361
Ensembl chr 2:202,200,797...202,443,026
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
DNA:missense mutation:cds:p.L520P (human)
ClinVar Annotator: match by OMIM:613610
OMIM
ClinVar
PMID:20817137 PMID:21473986 PMID:22486404 PMID:22987818 PMID:24033266 PMID:24123776 PMID:25326635 PMID:25741868 PMID:25908617 PMID:25914204 PMID:26691894 PMID:28332779 PMID:28492532 PMID:28870638 PMID:29068549, PMID:22987818 RGD:11553909 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
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
ClinVar Annotator: match by OMIM:614099
OMIM
ClinVar
PMID:21378380 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
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 ClinVar Annotator: match by OMIM:614378
DNA:missense mutation:cds:p.L750P (mouse)
ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
OMIM
ClinVar
PMID:22019273 PMID:23683095 PMID:25741868 PMID:27241786 PMID:28492532, PMID:22228095 RGD:11552606 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      ectodermal dysplasia 253
        cranioectodermal dysplasia 7
          cranioectodermal dysplasia 1 1
          cranioectodermal dysplasia 2 3
          cranioectodermal dysplasia 3 1
          cranioectodermal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Skin and Connective Tissue Diseases 4954
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              dysostosis 337
                synostosis 227
                  craniosynostosis 173
                    cranioectodermal dysplasia 7
                      cranioectodermal dysplasia 1 1
                      cranioectodermal dysplasia 2 3
                      cranioectodermal dysplasia 3 1
                      cranioectodermal dysplasia 4 1
paths to the root