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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
 narrow_synonym: X-linked aqueductal stenosis;   XLAS
 primary_id: MESH:C536078
 alt_id: OMIM:307000
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked hydrocephalus
ClinVar Annotator: match by term: Aqueductal stenosis, X-linked
OMIM
ClinVar
CTD
PMID:7881431 PMID:7920659 PMID:7920660 PMID:9300653 PMID:10469653 PMID:11772994 PMID:18414213 PMID:25741868 PMID:28492532 PMID:31680349, PMID:7920659, PMID:19565280, PMID:30738385 RGD:6483012, RGD:6483078, RGD:14695001 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
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 null
ClinVar Annotator: match by term: Hydrocephalus, X-linked, with hirschsprung disease
ClinVar Annotator: match by term: HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
ClinVar PMID:9279760 PMID:11857550 PMID:12650797 PMID:15148591 PMID:15368500 PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            X-linked monogenic disease 1032
              X-Linked Hydrocephalus 3
                X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            cerebral degeneration 269
              hydrocephalus 120
                X-Linked Hydrocephalus 3
                  X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
paths to the root