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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
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Accession:DOID:9006382 term browser browse the term
Synonyms:exact_synonym: HSAS;   HSAS1;   HYCX;   Hydrocephalus due to aqueductal stenosis;   Hydrocephalus due to congenital stenosis of aqueduct of sylvius;   X-linked congenital hydrocephalus
 narrow_synonym: X-linked aqueductal stenosis;   XLAS
 primary_id: MESH:C536078
 alt_id: OMIM:307000



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X-Linked Hydrocephalus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO
IMP
DNA:snps:cds:multiple (human)
C57BL/6J background
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aqueductal stenosis, X-linked | ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis
OMIM
CTD
ClinVar
RGD
PMID:7562969 PMID:7920659 PMID:7920660 PMID:8929944 PMID:9643285 More... RGD:6483012, RGD:6483078, RGD:14695001 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G L1camem2Jgn L1 cell adhesion molecule;CRISPR/Cas9 induced mutant2,JGN IMP RGD PMID:30738385 RGD:14695001
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 chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          monogenic disease 10276
            X-linked monogenic disease 1363
              X-Linked Hydrocephalus 3
                X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        central nervous system disease 12371
          brain disease 11608
            cerebral degeneration 645
              hydrocephalus 185
                X-Linked Hydrocephalus 3
                  X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
paths to the root