Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:Webb-Dattani Syndrome
go back to main search page
Accession:DOID:9005676 term browser browse the term
Definition:An autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities.
Synonyms:exact_synonym: WEDAS;   hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies
 primary_id: OMIM:615926
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Webb-Dattani Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Webb-Dattani syndrome OMIM
ClinVar
PMID:24022475 PMID:25741868 PMID:28492532 NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    physical disorder 4327
      congenital nervous system abnormality 1422
        microcephaly 1166
          Webb-Dattani Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          monogenic disease 8941
            autosomal genetic disease 7989
              autosomal dominant disease 5473
                complex cortical dysplasia with other brain malformations 1491
                  Malformations of Cortical Development, Group I 1341
                    microcephaly 1166
                      Webb-Dattani Syndrome 1
paths to the root