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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.



show annotations for term's descendants           Sort by:
 
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 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
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:22541558 PMID:23568615 PMID:25741868 PMID:28492532 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
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:18947413 PMID:19810119 PMID:19876929 More... NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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:17024374 PMID:18182642 PMID:19251731 PMID:19810119 More... NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      bone development disease 1424
        dysostosis 394
          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 17286
    disease of anatomical entity 16621
      musculoskeletal system disease 6466
        connective tissue disease 4445
          bone disease 3122
            bone development disease 1424
              dysostosis 394
                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