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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:Nager acrofacial dysostosis
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Accession:DOID:5768 term browser browse the term
Definition:An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. (DO)
Synonyms:exact_synonym: AFD;   AFD, Nager type;   AFD1;   Acrofacial Dysostosis 1, Nager Type;   Acrofacial Dysostosis, Nager Type;   Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies;   Nager Acrofacial Dysostosis Syndrome;   Nager syndrome;   preaxial acrofacial dysostosis;   preaxial mandibulofacial dysostosis;   preaxial manibulofacial dysostosis
 primary_id: MESH:C538184
 alt_id: OMIM:154400
 xref: GARD:498;   NCI:C35795
For additional species annotation, visit the Alliance of Genome Resources.



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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

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
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
                synostosis 374
                  craniosynostosis 314
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Nager acrofacial dysostosis 1
paths to the root