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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM:227260 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      ectodermal dysplasia 389
        Focal Facial Dermal Dysplasia 2
          Focal Facial Dermal Dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          skin disease 3004
            Genetic Skin Diseases 1059
              ectodermal dysplasia 389
                Focal Facial Dermal Dysplasia 2
                  Focal Facial Dermal Dysplasia 3 1
paths to the root