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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:Arachnoid Cysts
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Accession:DOID:9007612 term browser browse the term
Definition:Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)
Synonyms:exact_synonym: Arachnoid Diverticula;   Arachnoid Diverticulas;   Cyst, Arachnoid;   Intracranial Arachnoid Cyst;   Intracranial Arachnoid Cysts;   Leptomeningeal Cyst;   Leptomeningeal Cysts
 primary_id: MESH:D016080;   RDO:0000583
For additional species annotation, visit the Alliance of Genome Resources.



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Chudley-Mccullough syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by OMIM:604213
DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chudley-McCullough syndrome
ClinVar Annotator: match by term: GPSM2-Related Disorders
OMIM
ClinVar
CTD
RGD
PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 More... RGD:11062393 NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    disease of cellular proliferation 7051
      Cysts 265
        Arachnoid Cysts 2
          Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 0
          Bobble-Head Doll Syndrome 0
          Chudley-Mccullough syndrome 2
          Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
          Spinal Intradural Arachnoid Cysts 0
          Tibia Absent Polydactyly Arachnoid Cyst 0
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        Nervous System Neoplasms 1694
          Central Nervous System Neoplasms 1368
            Central Nervous System Cysts 7
              Arachnoid Cysts 2
                Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 0
                Bobble-Head Doll Syndrome 0
                Chudley-Mccullough syndrome 2
                Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
                Spinal Intradural Arachnoid Cysts 0
                Tibia Absent Polydactyly Arachnoid Cyst 0
paths to the root