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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:GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
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Accession:DOID:9006721 term browser browse the term
Definition:A disease characterized by variable genitourinary anomalies, including disorders of sex differentiation, and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly.
Synonyms:exact_synonym: GUBS
 alt_id: OMIM:618820
For additional species annotation, visit the Alliance of Genome Resources.


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GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A ISO ClinVar Annotator: match by term: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ClinVar
OMIM
PMID:25741868 PMID:31349857 PMID:31883643 NCBI chr 7:51,404,971...51,515,382
Ensembl chr 7:51,404,919...51,515,373
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      Urogenital Diseases 4178
        Urogenital Abnormalities 261
          GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8455
        Congenital Abnormalities 4755
          Urogenital Abnormalities 261
            GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME 1
paths to the root