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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:Facial Ectodermal Dysplasia
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Accession:DOID:9003398 term browser browse the term
Synonyms:exact_synonym: Bitemporal forceps marks syndrome;   FFDD3;   Focal Facial Dermal Dysplasia 3, Setleis Type;   Focal Facial Dermal Dysplasia, Type II;   Focal facial dermal dysplasia type 2;   Setleis syndrome
 primary_id: MESH:C536385;   RDO:0001951
 alt_id: OMIM:227260
For additional species annotation, visit the Alliance of Genome Resources.


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Facial Ectodermal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
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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 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    syndrome 7744
      focal dermal hypoplasia 6
        Facial Ectodermal Dysplasia 2
Path 2
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9142
        genetic disease 8664
          monogenic disease 6639
            X-linked monogenic disease 1017
              X-linked dominant disease 147
                focal dermal hypoplasia 6
                  Facial Ectodermal Dysplasia 2
paths to the root