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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      bone development disease 1343
        dysostosis 344
          acrofacial dysostosis 4
            Nager acrofacial dysostosis 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Nager acrofacial dysostosis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.