Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Frontonasal Dysplasia 2
go back to main search page
Accession:DOID:9007891 term browser browse the term
Synonyms:exact_synonym: FND2
 primary_id: OMIM:613451
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Frontonasal Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613451
ClinVar Annotator: match by term: Frontonasal dysplasia 2
OMIM
ClinVar
PMID:11017806, PMID:11106354, PMID:11137991, PMID:16319823, PMID:19692347, PMID:22140057, PMID:22829454, PMID:24668755, PMID:25741868 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Pathological Conditions, Signs and Symptoms 8720
      Anatomical Pathological Conditions 1528
        alopecia 92
          Frontonasal Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4072
          bone disease 3527
            bone development disease 1330
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Frontonasal Dysplasia 2 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.