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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 2, with or without Brain or Eye Anomalies
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Accession:DOID:9006616 term browser browse the term
Synonyms:exact_synonym: HYC2;   HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES;   MPDZ-RELATED CONDITION;   Nonsyndromic Hydrocephalus, Autosomal Recessive 2
 primary_id: OMIM:615219


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Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADM acyl-CoA dehydrogenase medium chain IAGP ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 ClinVar PMID:11673361 PMID:18450854 PMID:19780764 PMID:20434380 PMID:23028790 More... NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP
EXP		 ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 | ClinVar Annotator: match by term: MPDZ-related condition		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:23240096 More... NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692 		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 2, with or without Brain or Eye Anomalies 2
paths to the root