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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:Webb-Dattani Syndrome
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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: ARNT2-RELATED CONDITION;   WEDAS;   hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies
 primary_id: MIM:615926



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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: ARNT2-related condition | 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 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      eye disease 3722
        blindness 121
          Webb-Dattani Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10931
            autosomal genetic disease 10418
              autosomal dominant disease 6762
                complex cortical dysplasia with other brain malformations 1641
                  Malformations of Cortical Development, Group I 1399
                    microcephaly 1146
                      Webb-Dattani Syndrome 1
paths to the root