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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:normal pressure hydrocephalus
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Accession:DOID:1572 term browser browse the term
Definition:A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)
Synonyms:exact_synonym: HYDNP1;   Hakim Syndrome;   Hakim Syndromes;   Hakim's Syndrome;   Hakim's syndromes;   Hakims Syndrome;   Low pressure hydrocephalus;   NPH (normal pressure hydrocephalus);   normal pressure hydrocephalus 1
 primary_id: MESH:D006850
 alt_id: OMIM:236690
 xref: EFO:1001065;   ICD10CM:G91.2
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
normal pressure hydrocephalus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak9 adenylate kinase 9 ISS OMIM:236690 MouseDO NCBI chr20:44,724,494...44,941,135
Ensembl chr20:44,724,496...44,941,136 		JBrowse link
G Cfap43 cilia and flagella associated protein 43 ISO
ISS		 ClinVar Annotator: match by term: Normal pressure hydrocephalus
CTD Direct Evidence: marker/mechanism
OMIM:236690		 OMIM
ClinVar
CTD
MouseDO		 PMID:25741868 PMID:29449551 PMID:31004071 NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443 		JBrowse link
G Cwh43 cell wall biogenesis 43 C-terminal homolog ISS OMIM:236690 MouseDO NCBI chr14:34,754,279...34,800,530
Ensembl chr14:34,754,289...34,800,814 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257 PMID:25808372 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            cerebral degeneration 649
              hydrocephalus 187
                normal pressure hydrocephalus 5
                  Hereditary Essential Tremor and Idiopathic Normal Pressure Hydrocephalus 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            cerebral degeneration 649
              hydrocephalus 187
                communicating hydrocephalus 9
                  normal pressure hydrocephalus 5
                    Hereditary Essential Tremor and Idiopathic Normal Pressure Hydrocephalus 0
paths to the root