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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:Central Nervous System Cysts
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Accession:DOID:9003857 term browser browse the term
Definition:Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.
Synonyms:exact_synonym: Rathke Cleft Cysts;   Rathke's Cleft Cysts;   Rathkes Cleft Cysts;   Suprasellar Cyst;   Suprasellar Cysts
 primary_id: MESH:D020863;   RDO:0004023
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:28492532 PMID:29228254 PMID:29481669 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2
ClinVar
OMIM
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
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 term: Chudley-McCullough syndrome
ClinVar Annotator: match by term: GPSM2-Related Disorders
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
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
Labrune Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar PMID:25741868 PMID:27571260 PMID:28177126 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:31521395 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        Nervous System Malformations 1496
          Central Nervous System Cysts 7
            Arachnoid Cysts + 2
            Cerebroretinal Microangiopathy with Calcifications and Cysts + 3
            Colloid Cysts + 0
            Labrune Syndrome 2
            Oculocerebrocutaneous Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          Central Nervous System Neoplasms 1341
            Central Nervous System Cysts 7
              Arachnoid Cysts + 2
              Cerebroretinal Microangiopathy with Calcifications and Cysts + 3
              Colloid Cysts + 0
              Labrune Syndrome 2
              Oculocerebrocutaneous Syndrome 0
paths to the root