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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 Malformations;   Extracerebral Cavernous Hemangioma;   Familial Cavernous Angioma;   brain cavernous hemangiomas;   cavernous angiomatous malformations;   cavernous hemangioma, central nervous system;   cerebral capillary malformations;   cerebral cavernous hemangiomas;   extracerebral cavernous hemangiomas;   familial cavernous angiomas;   familial cavernous malformation;   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;   OMIM:PS116860
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 Akap9 A kinase (PRKA) anchor protein (yotiao) 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:3,977,410...4,130,204
Ensembl chr 5:3,978,054...4,131,310
JBrowse link
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 5:3,739,999...3,853,124
Ensembl chr 5:3,740,000...3,852,925
JBrowse link
G Ccm2 cerebral cavernous malformation 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25741868 PMID:28492532 NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:4,130,674...4,154,697
Ensembl chr 5:4,131,145...4,154,746
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:76,093,487...76,139,885
Ensembl chr 5:76,093,487...76,139,118
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing susceptibility ISO
IEA
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
MouseDO
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379, RGD:1358458 NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564
JBrowse link
G Lrrd1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:3,895,173...3,916,596
Ensembl chr 5:3,895,173...3,916,596
JBrowse link
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:25741868 PMID:28492532 NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802
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 ClinVar Annotator: match by term: Cerebral cavernous malformation 1 OMIM
ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 cerebral cavernous malformation 2 ISO
IEA
ClinVar Annotator: match by term: Cerebral cavernous malformation 2
OMIM:603284
OMIM
ClinVar
MouseDO
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr11:6,547,814...6,556,059
Ensembl chr11:6,547,823...6,556,053
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
IEA
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 OMIM
ClinVar
MouseDO
PMID:9536098 PMID:15543491 PMID:16329096 PMID:17576681 PMID:18060436 More... NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163
JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:28492532 NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802
JBrowse link
Cerebral Cavernous Malformation 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) IEP RGD PMID:31426861 RGD:18899564 NCBI chr 6:115,751,518...115,782,516
Ensembl chr 6:115,751,499...115,782,518
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15270
    disease of anatomical entity 14918
      nervous system disease 12605
        Nervous System Malformations 2042
          Central Nervous System Vascular Malformations 48
            cerebral cavernous malformation 17
              Cerebral Cavernous Malformation 4 1
              Familial Cerebral Cavernous Malformation 2
              cerebral cavernous malformation 1 2
              cerebral cavernous malformation 2 2
              cerebral cavernous malformation 3 2
Path 2
Term Annotations click to browse term
  disease 15270
    disease of anatomical entity 14918
      Hemic and Lymphatic Diseases 3213
        hematopoietic system disease 2757
          blood coagulation disease 822
            hemorrhagic disease 790
              vascular hemostatic disease 426
                cavernous hemangioma 18
                  cerebral cavernous malformation 17
                    Cerebral Cavernous Malformation 4 1
                    Familial Cerebral Cavernous Malformation 2
                    cerebral cavernous malformation 1 2
                    cerebral cavernous malformation 2 2
                    cerebral cavernous malformation 3 2
paths to the root