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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:Frontonasal Dysplasia 3
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Accession:DOID:9000358 term browser browse the term
Synonyms:exact_synonym: FND3
 related_synonym: OMIM:613456
For additional species annotation, visit the Alliance of Genome Resources.


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Frontonasal Dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO ClinVar Annotator: match by OMIM:613456
ClinVar Annotator: match by term: Frontonasal dysplasia 3
OMIM
ClinVar
PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 NCBI chr 7:44,751,865...44,771,458
Ensembl chr 7:44,751,873...44,771,458
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      orofacial cleft 124
        cleft palate 92
          Frontonasal Dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        Congenital Abnormalities 5187
          Musculoskeletal Abnormalities 2135
            Craniofacial Abnormalities 1855
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  orofacial cleft 124
                    cleft palate 92
                      Frontonasal Dysplasia 3 1
paths to the root