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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.



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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 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:25741868 PMID:28492532 PMID:29111009 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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 2:196,296,350...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 term: Chudley-McCullough syndrome
ClinVar Annotator: match by term: Deafness, autosomal recessive 82
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
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
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 chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G LOC120095383 U8 small nucleolar RNA ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts OMIM
ClinVar
PMID:25741868 PMID:27571260 PMID:28177126 PMID:29260032 PMID:29970281 More... NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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 More... NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        Nervous System Malformations 1617
          Central Nervous System Cysts 8
            Arachnoid Cysts + 2
            Cerebroretinal Microangiopathy with Calcifications and Cysts + 3
            Colloid Cysts + 0
            Labrune Syndrome 3
            Oculocerebrocutaneous Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          Central Nervous System Neoplasms 1376
            Central Nervous System Cysts 8
              Arachnoid Cysts + 2
              Cerebroretinal Microangiopathy with Calcifications and Cysts + 3
              Colloid Cysts + 0
              Labrune Syndrome 3
              Oculocerebrocutaneous Syndrome 0
paths to the root