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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:Congenital Hydrocephalus 3, with Brain Anomalies
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Accession:DOID:9009189 term browser browse the term
Synonyms:exact_synonym: HYC3;   HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3
 primary_id: OMIM:617967


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Congenital Hydrocephalus 3, with Brain Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR81 WD repeat domain 81 IAGP ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies
ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3
ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies		 ClinVar
OMIM		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:25741914 More... NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            cerebral degeneration 839
              hydrocephalus 209
                Congenital Hydrocephalus 3, with Brain Anomalies 1
paths to the root