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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


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 term: Cranioectodermal dysplasia ClinVar PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 NCBI chr13:68,828,710...68,902,062
Ensembl chr13:68,828,719...68,902,060 		JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 7:99,155,889...99,254,436
Ensembl chr 7:99,158,892...99,254,355 		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 3:118,185,928...118,206,465
Ensembl chr 3:118,185,975...118,205,558 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 More... NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		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 Annotator: match by term: LEVIN SYNDROME I OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr13:68,828,710...68,902,062
Ensembl chr13:68,828,719...68,902,060 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr13:68,816,677...68,828,559
Ensembl chr13:68,816,679...68,828,580 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr13:68,908,578...68,913,651
Ensembl chr13:68,908,578...68,913,651 		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 PMID:25741868 PMID:28492532 NCBI chr 3:118,185,928...118,206,465
Ensembl chr 3:118,185,975...118,205,558 		JBrowse link
G SPAG17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 4:102,596,465...102,826,213
Ensembl chr 4:102,427,186...102,826,226 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... NCBI chr 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		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:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 More... NCBI chr 7:99,155,889...99,254,436
Ensembl chr 7:99,158,892...99,254,355 		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 term: Cranioectodermal dysplasia 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      ectodermal dysplasia 523
        cranioectodermal dysplasia 9
          cranioectodermal dysplasia 1 3
          cranioectodermal dysplasia 2 3
          cranioectodermal dysplasia 3 1
          cranioectodermal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Skin and Connective Tissue Diseases 6721
        connective tissue disease 5225
          bone disease 3783
            bone development disease 2249
              dysostosis 561
                synostosis 363
                  craniosynostosis 304
                    cranioectodermal dysplasia 9
                      cranioectodermal dysplasia 1 3
                      cranioectodermal dysplasia 2 3
                      cranioectodermal dysplasia 3 1
                      cranioectodermal dysplasia 4 1
paths to the root