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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:acrofacial dysostosis
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Accession:DOID:0060379 term browser browse the term
Definition:A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. (DO)
Synonyms:primary_id: RDO:9004061
For additional species annotation, visit the Alliance of Genome Resources.


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acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis, Cincinnati type OMIM
ClinVar
PMID:25741868 PMID:25913037 PMID:28492532 NCBI chr 4:99,822,964...99,903,969
Ensembl chr 4:99,823,252...99,887,132
JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by OMIM:154400
ClinVar Annotator: match by term: Nager syndrome
OMIM
ClinVar
PMID:18000904 PMID:22541558 PMID:23568615 PMID:24003905 PMID:24715698 PMID:25741868 PMID:27642715 PMID:28492532 NCBI chr 2:198,312,428...198,317,180
Ensembl chr 2:198,312,428...198,317,180
JBrowse link
Weyers acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Curry-Hall syndrome
ClinVar Annotator: match by OMIM:193530
OMIM
ClinVar
PMID:7635486 PMID:10700184 PMID:19876929 PMID:25741868 PMID:28492532 NCBI chr14:78,213,601...78,253,266
Ensembl chr14:78,213,635...78,253,266
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by synonym: ACRODENTAL DYSOSTOSIS OF WEYERS
ClinVar Annotator: match by term: Curry-Hall syndrome
ClinVar Annotator: match by OMIM:193530
ClinVar
OMIM
PMID:16404586 PMID:18182642 PMID:19810119 PMID:23220543 PMID:25741868 PMID:28492532 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      bone development disease 1343
        dysostosis 344
          acrofacial dysostosis 4
            Nager acrofacial dysostosis 1
            Weyers acrofacial dysostosis 2
            acrofacial dysostosis Cincinnati type 1
            acrofacial dysostosis Rodriguez type 0
            acrofacial dysostosis, Catania type 0
            acrofacial dysostosis, Patagonia type 0
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              dysostosis 344
                acrofacial dysostosis 4
                  Nager acrofacial dysostosis 1
                  Weyers acrofacial dysostosis 2
                  acrofacial dysostosis Cincinnati type 1
                  acrofacial dysostosis Rodriguez type 0
                  acrofacial dysostosis, Catania type 0
                  acrofacial dysostosis, Patagonia type 0
paths to the root