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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:X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction
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Accession:DOID:9005824 term browser browse the term
Synonyms:related_synonym: HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
 primary_id: MESH:C564408
 alt_id: RDO:0013383


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X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction ClinVar PMID:12650797 PMID:15368500 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        intestinal pseudo-obstruction 25
          X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            cerebral degeneration 598
              hydrocephalus 161
                X-Linked Hydrocephalus 1
                  X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
paths to the root