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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)


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 LOC126806264 MED14-independent group 3 enhancer GRCh37_chr2:86296595-86297794 IAGP ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type
ClinVar Annotator: match by term: POLR1A-related condition		 ClinVar PMID:25741868 PMID:25913037 PMID:28492532 NCBI chr 2:86,069,472...86,070,671 JBrowse link
G POLR1A RNA polymerase I subunit A IAGP
EXP		 ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type
ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:25913037 PMID:28492532 PMID:34341987 PMID:37075751 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129931382 ATAC-STARR-seq lymphoblastoid active region 1665 IAGP ClinVar Annotator: match by term: Nager syndrome ClinVar PMID:22541558 PMID:24003905 PMID:25741868 PMID:28492532
G SF3B4 splicing factor 3b subunit 4 IAGP
EXP		 ClinVar Annotator: match by term: Nager syndrome
DNA:mutations, haploinsufficiency:exon:multiple (human)
DNA:mutations:exon:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 PMID:27622494 More... RGD:11062353, RGD:155804295 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		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 IAGP
EXP		 ClinVar Annotator: match by term: Curry-Hall syndrome
ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
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
ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 PMID:17576681 More... NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP
EXP		 ClinVar Annotator: match by term: Curry-Hall syndrome
ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12571802 PMID:16404586 PMID:17024374 PMID:17576681 More... NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G LOC126806961 BRD4-independent group 4 enhancer GRCh37_chr4:5641443-5642642 IAGP ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS ClinVar PMID:25047945 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 4:5,639,716...5,640,915 JBrowse link
G LOC126806962 BRD4-independent group 4 enhancer GRCh37_chr4:5666069-5667268 IAGP ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:5,664,342...5,665,541 JBrowse link
G LOC129992144 ATAC-STARR-seq lymphoblastoid silent region 15223 IAGP ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS ClinVar PMID:25741868 PMID:28492532
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3274
        dysostosis 856
          acrofacial dysostosis 9
            Nager acrofacial dysostosis 2
            Weyers acrofacial dysostosis 5
            acrofacial dysostosis Cincinnati type 2
            acrofacial dysostosis Rodriguez type 0
            acrofacial dysostosis, Catania type 0
            acrofacial dysostosis, Patagonia type 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11641
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3274
              dysostosis 856
                acrofacial dysostosis 9
                  Nager acrofacial dysostosis 2
                  Weyers acrofacial dysostosis 5
                  acrofacial dysostosis Cincinnati type 2
                  acrofacial dysostosis Rodriguez type 0
                  acrofacial dysostosis, Catania type 0
                  acrofacial dysostosis, Patagonia type 0
paths to the root