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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;   Toriello syndrome
 broad_synonym: ZSWIM6-related condition
 xref: GARD:5539;   MESH:C566345;   MIM:603671;   MONDO:0011359;   ORDO:1827


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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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 NCBI chr 2:40,944,617...41,112,340
Ensembl chr 2:40,946,435...41,112,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal dominant disease 6057
                acromelic frontonasal dysostosis 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              dysostosis 634
                synostosis 404
                  craniosynostosis 340
                    Crouzon syndrome 34
                      Mandibulofacial Dysostosis 28
                        acromelic frontonasal dysostosis 1
paths to the root