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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:communicating hydrocephalus
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Accession:DOID:1573 term browser browse the term
Synonyms:xref: ICD10CM:G91.0;   ICD9CM:331.3;   NCI:C34501
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
communicating hydrocephalus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
Congenital Communicating Hydrocephalus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 ClinVar
OMIM
PMID:29983323 NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807
JBrowse link
normal pressure hydrocephalus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus OMIM
ClinVar
PMID:31004071 NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257 PMID:25808372 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            cerebral degeneration 363
              hydrocephalus 126
                communicating hydrocephalus 7
                  Congenital Communicating Hydrocephalus 1 1
                  normal pressure hydrocephalus + 3
paths to the root