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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.


show annotations for term's descendants           Sort by:
 
Arachnoid Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Arachnoid cyst ClinVar PMID:30311386 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Arachnoid cyst ClinVar PMID:11992261, PMID:12058348, PMID:12161596, PMID:14634749, PMID:15121796, PMID:15389709, PMID:15520399, PMID:16053901, PMID:16358218, PMID:16377799, PMID:16638574, PMID:16679933, PMID:17020470, PMID:18372317, PMID:18849586, PMID:19725129, PMID:19768645, PMID:20308328, PMID:21339643, PMID:21747628, PMID:22681964, PMID:22822385, PMID:23673659, PMID:24033266, PMID:24401936, PMID:24775816, PMID:24820750, PMID:24935154, PMID:25731833, PMID:25741868, PMID:25917897, PMID:26337637, PMID:26918529, PMID:28483241, PMID:28492532, PMID:29276006, PMID:30311386 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Arachnoid cyst ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
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 2:211,450,426...211,479,885
Ensembl chr 2:211,450,484...211,479,884
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
PMID:10449658, PMID:20602914, PMID:21348867, PMID:22578326, PMID:22987632, PMID:23208854, PMID:23494849, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532, PMID:22578326 RGD:11062393 NCBI chr 2:211,480,120...211,528,096
Ensembl chr 2:211,480,400...211,527,919
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of cellular proliferation 5918
      Cysts 266
        Arachnoid Cysts 5
          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 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Nervous System Neoplasms 1662
          Central Nervous System Neoplasms 1337
            Central Nervous System Cysts 10
              Arachnoid Cysts 5
                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

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