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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: AQUEDUCTAL STENOSIS, X-LINKED;   XLAS HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION
 primary_id: MESH:C536078
 alt_id: OMIM:307000;   RDO:0001504
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
OMIM
ClinVar
CTD
PMID:7920659, PMID:7920660, PMID:10469653, PMID:11772994, PMID:18414213, PMID:25741868, PMID:28492532, 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
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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              X-Linked Hydrocephalus 2
                X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            cerebral degeneration 272
              hydrocephalus 118
                X-Linked Hydrocephalus 2
                  X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.