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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:acromelic frontonasal dysostosis
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Accession:DOID:0060342 term browser browse the term
Definition:A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. (DO)
Synonyms:exact_synonym: AFND
 primary_id: MESH:C566345;   RDO:0014724
 alt_id: OMIM:603671
 xref: GARD:2393;   GARD:5539
For additional species annotation, visit the Alliance of Genome Resources.


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acromelic frontonasal dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger, SWIM-type containing 6 ISO ClinVar Annotator: match by term: Acromelic frontonasal dysostosis OMIM
ClinVar
PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 PMID:29198722 NCBI chr 2:38,978,042...39,042,886
Ensembl chr 2:38,979,865...39,007,976
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      bone development disease 1343
        dysostosis 344
          acromelic frontonasal dysostosis 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              dysostosis 344
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        acromelic frontonasal dysostosis 1
paths to the root