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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:Craniofacial Microsomia 2
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Accession:DOID:9007962 term browser browse the term
Definition:A craniofacial microsomia caused by homozygous or heterozygous mutation in the FOXI3 gene on chromosome 2p11.
Synonyms:exact_synonym: CFM2;   FOXI3-RELATED CONDITION
 xref: MIM:620444;   MONDO:0958194


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Craniofacial Microsomia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi3 forkhead box I3 ISO ClinVar Annotator: match by term: Craniofacial microsomia 2 | ClinVar Annotator: match by term: FOXI3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36260083 PMID:37041148 NCBI chr 4:102,933,487...102,937,655
Ensembl chr 4:102,933,409...102,937,655 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      bone development disease 2370
        dysostosis 630
          synostosis 396
            craniosynostosis 332
              Crouzon syndrome 30
                Mandibulofacial Dysostosis 24
                  Craniofacial Microsomia 2 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      musculoskeletal system disease 8477
        connective tissue disease 5949
          bone disease 4401
            bone development disease 2370
              dysostosis 630
                synostosis 396
                  craniosynostosis 332
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Craniofacial Microsomia 2 1
paths to the root