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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 hemangioma
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Accession:DOID:501 term browser browse the term
Synonyms:exact_synonym: hemangioma of CNS
 primary_id: RDO:9004255
 xref: NCI:C7004
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
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 chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781 		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 chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		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 OMIM:116860		 ClinVar
CTD
RGD		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1358458, RGD:1598379 NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135 		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 malformations 1 ClinVar
OMIM		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		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 ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar		 PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 More... NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781 		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 ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar		 PMID:9536098 PMID:15543491 PMID:17576681 PMID:18035376 PMID:18060436 More... NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018 		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 chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135 		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 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Neoplasms by Histologic Type 4778
        cell type benign neoplasm 1756
          hemangioma 83
            central nervous system hemangioma 13
              brain stem angioblastoma 0
              cerebellar angioblastoma 1
              cerebral cavernous malformation + 12
Path 2
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      benign neoplasm 1944
        organ system benign neoplasm 1091
          nervous system benign neoplasm 706
            central nervous system benign neoplasm 652
              central nervous system hemangioma 13
                brain stem angioblastoma 0
                cerebellar angioblastoma 1
                cerebral cavernous malformation + 12
paths to the root