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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:cerebral cavernous malformation
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Accession:DOID:0060669 term browser browse the term
Definition:A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO)
Synonyms:exact_synonym: Brain Cavernous Hemangioma;   CAM;   CCM;   Cavernous Angioma, Central Nervous System;   Cavernous Angiomatous Malformation;   Cavernous Hemangioma of Brain;   Cerebral Capillary Malformation;   Cerebral Cavernous Hemangioma;   Cerebral Cavernous Hemangiomas;   Cerebral Cavernous Malformations;   Extracerebral Cavernous Hemangioma;   Extracerebral Cavernous Hemangiomas;   Familial Cavernous Angioma;   Familial Cavernous Angiomas;   Familial Cavernous Malformation;   brain cavernous hemangiomas;   cavernous angiomatous malformations;   cavernous hemangioma, central nervous system;   cerebral capillary malformations;   familial cavernous malformations;   intracerebral cavernous hemangioma;   intracerebral cavernous hemangiomas
 narrow_synonym: CAVERNOUS MALFORMATIONS OF CNS AND RETINA;   HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS
 primary_id: MESH:D020786
 xref: NCI:C84626
For additional species annotation, visit the Alliance of Genome Resources.


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cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chrNW_004955432:9,220,318...9,358,728
Ensembl chrNW_004955432:9,220,318...9,358,728
JBrowse link
G Ccm2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chrNW_004955456:7,232,224...7,251,012
Ensembl chrNW_004955456:7,227,667...7,256,206
JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Krit1 KRIT1 ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
RGD
ClinVar
CTD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288 RGD:1358458 RGD:1598379 NCBI chrNW_004955432:9,168,678...9,219,947 JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1 ankyrin repeat containing ISO OMIM NCBI chrNW_004955432:9,168,678...9,219,947 JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO OMIM NCBI chrNW_004955456:7,232,224...7,251,012
Ensembl chrNW_004955456:7,227,667...7,256,206
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chrNW_004955456:7,224,224...7,230,736
Ensembl chrNW_004955456:7,224,202...7,230,660
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO OMIM NCBI chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cand2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chrNW_004955429:17,891,306...17,913,961
Ensembl chrNW_004955429:17,891,796...17,913,866
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12528
    disease of anatomical entity 12209
      nervous system disease 10127
        Nervous System Malformations 1419
          Central Nervous System Vascular Malformations 34
            cerebral cavernous malformation 11
              Familial Cerebral Cavernous Malformation 1
              cerebral cavernous malformation 1 1
              cerebral cavernous malformation 2 2
              cerebral cavernous malformation 3 2
Path 2
Term Annotations click to browse term
  disease 12528
    disease of anatomical entity 12209
      Hemic and Lymphatic Diseases 1830
        hematopoietic system disease 1490
          blood coagulation disease 547
            hemorrhagic disease 537
              vascular hemostatic disease 273
                cavernous hemangioma 12
                  cerebral cavernous malformation 11
                    Familial Cerebral Cavernous Malformation 1
                    cerebral cavernous malformation 1 1
                    cerebral cavernous malformation 2 2
                    cerebral cavernous malformation 3 2
paths to the root