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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
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Accession:DOID:9000745 term browser browse the term
Definition:A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern.
Synonyms:exact_synonym: Facial Ectodermal Dysplasia;   Facial Ectodermal Dysplasias;   Focal Facial Dermal Dysplasias
 primary_id: MESH:D000090303
 xref: OMIM:PS136500
For additional species annotation, visit the Alliance of Genome Resources.



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Focal Facial Dermal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:235,458,961...235,468,433
Ensembl chr 1:235,459,356...235,466,842
JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
JBrowse link
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
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO ClinVar Annotator: match by term: Focal facial dermal dysplasia 4 OMIM
ClinVar
PMID:16530710 PMID:23161670 NCBI chr 1:235,458,961...235,468,433
Ensembl chr 1:235,459,356...235,466,842
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      ectodermal dysplasia 428
        Focal Facial Dermal Dysplasia 2
          Focal Facial Dermal Dysplasia 1 0
          Focal Facial Dermal Dysplasia 2 0
          Focal Facial Dermal Dysplasia 3 1
          Focal Facial Dermal Dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            Genetic Skin Diseases 1565
              ectodermal dysplasia 428
                Focal Facial Dermal Dysplasia 2
                  Focal Facial Dermal Dysplasia 1 0
                  Focal Facial Dermal Dysplasia 2 0
                  Focal Facial Dermal Dysplasia 3 1
                  Focal Facial Dermal Dysplasia 4 1
paths to the root