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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 OMIM
ClinVar		 PMID:25741868 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
ISS		 ClinVar Annotator: match by term: Normal pressure hydrocephalus
CTD Direct Evidence: marker/mechanism
OMIM:236690		 OMIM
ClinVar
CTD
MouseDO		 PMID:25741868 PMID:29449551 PMID:31004071 NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443 		JBrowse link
G Cwh43 cell wall biogenesis 43 C-terminal homolog ISS OMIM:236690 MouseDO NCBI chr14:34,754,279...34,800,530
Ensembl chr14:34,754,289...34,800,814 		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 21109
    disease of anatomical entity 18151
      nervous system disease 13988
        central nervous system disease 12335
          brain disease 11566
            cerebral degeneration 638
              hydrocephalus 183
                communicating hydrocephalus 8
                  Congenital Communicating Hydrocephalus 1 1
                  normal pressure hydrocephalus + 4
paths to the root