Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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)



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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type
OMIM
CTD
ClinVar
PMID:25741868 PMID:25913037 PMID:28492532 PMID:34341987 PMID:37075751 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 DNA:mutations, haploinsufficiency:exon:multiple (human)
DNA:mutations:exon:multiple (human)
ClinVar Annotator: match by term: Nager syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 PMID:28492532 More... RGD:11062353, RGD:155804295 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
OMIM
CTD
ClinVar
PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 PMID:17576681 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 term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 21155
    Developmental Disease 18469
      bone development disease 2281
        dysostosis 576
          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 21155
    disease of anatomical entity 18219
      musculoskeletal system disease 8262
        connective tissue disease 5735
          bone disease 4245
            bone development disease 2281
              dysostosis 576
                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