Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Bartter disease type 5
go back to main search page
Accession:DOID:0110147 term browser browse the term
Definition:A potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. (OMIM)
Synonyms:exact_synonym: BARTS5;   Bartter syndrome, type 5, antenatal, transient;   transient antenatal Bartter syndrome-5
 primary_id: OMIM:300971;   RDO:9001191
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Bartter disease type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient ClinVar
OMIM
PMID:27120771 NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Bartter disease 9
        Bartter disease type 5 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        adrenal gland disease 171
          adrenal cortex disease 76
            adrenal gland hyperfunction 32
              primary hyperaldosteronism 26
                Bartter disease 9
                  Bartter disease type 5 1
paths to the root