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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:neurooculocardiogenitourinary syndrome
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Accession:DOID:0111675 term browser browse the term
Definition:A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. (DO)
Synonyms:exact_synonym: NOCGUS
 primary_id: OMIM:618652
 xref: EFO:0010663



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neurooculocardiogenitourinary syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Neurooculocardiogenitourinary syndrome OMIM
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31780822 More... NCBI chr17:61,637,258...61,703,677
Ensembl chr17:61,637,258...61,703,677
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      neurooculocardiogenitourinary syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                neurooculocardiogenitourinary syndrome 1
paths to the root