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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: WEDAS;   hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies
 primary_id: OMIM:615926
For additional species annotation, visit the Alliance of Genome Resources.



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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: Webb-Dattani syndrome ClinVar
OMIM
PMID:24022475 PMID:25741868 PMID:28492532 NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital nervous system abnormality 1043
        microcephaly 897
          Webb-Dattani Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Webb-Dattani Syndrome 1
paths to the root