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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 Cyst;   Arachnoid Diverticula;   Arachnoid Diverticulas;   Intracranial Arachnoid Cyst;   Intracranial Arachnoid Cysts;   Leptomeningeal Cyst;   Leptomeningeal Cysts
 primary_id: MESH:D016080
 alt_id: MIM:207790



show annotations for term's descendants           Sort by:
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 Annotator: match by term: GPSM2-Related Disorders ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:198,984,455...199,015,015
Ensembl chr 2:196,296,393...196,326,913
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO 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: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction | ClinVar Annotator: match by term: GPSM2-Related Disorders
OMIM
CTD
ClinVar
RGD
PMID:9536098 PMID:10449658 PMID:17576681 PMID:20602914 PMID:21348867 More... RGD:11062393 NCBI chr 2:199,015,250...199,063,788
Ensembl chr 2:196,327,149...196,375,154
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:1391962 PMID:1498324 PMID:8844207 PMID:25741868 PMID:26830532 More... NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr 7:80,637,341...81,956,469
Ensembl chr 7:78,748,480...80,066,369
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of cellular proliferation 7891
      Cysts 303
        Central Nervous System Cysts 11
          Arachnoid Cysts 4
            Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 0
            Bobble-Head Doll Syndrome 0
            Chudley-Mccullough syndrome 3
            Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 1
            Spinal Intradural Arachnoid Cysts 0
            Tibia Absent Polydactyly Arachnoid Cyst 0
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          Central Nervous System Neoplasms 1381
            Central Nervous System Cysts 11
              Arachnoid Cysts 4
                Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 0
                Bobble-Head Doll Syndrome 0
                Chudley-Mccullough syndrome 3
                Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 1
                Spinal Intradural Arachnoid Cysts 0
                Tibia Absent Polydactyly Arachnoid Cyst 0
paths to the root