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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:Focal Facial Dermal Dysplasia 3
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Accession:DOID:9003398 term browser browse the term
Synonyms:exact_synonym: Bitemporal forceps marks syndrome;   FFDD3;   Facial Ectodermal Dysplasia;   Focal Facial Dermal Dysplasia 3, Setleis Type;   Focal Facial Dermal Dysplasia, Type II;   Focal facial dermal dysplasia type 2;   Setleis syndrome
 primary_id: OMIM:227260


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Focal Facial Dermal Dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type OMIM
ClinVar		 PMID:8818454 PMID:14069095 PMID:20691403 PMID:21931173 NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      ectodermal dysplasia 542
        Focal Facial Dermal Dysplasia 2
          Focal Facial Dermal Dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Genetic Skin Diseases 1853
                ectodermal dysplasia 542
                  Focal Facial Dermal Dysplasia 2
                    Focal Facial Dermal Dysplasia 3 1
paths to the root