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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:Familial Cerebral Cavernous Malformation
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Accession:DOID:9001136 term browser browse the term
Synonyms:exact_synonym: Familial cavernous hemangioma;   Familial cerebral cavernous angioma
 primary_id: MESH:C536610
For additional species annotation, visit the Alliance of Genome Resources.



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Familial Cerebral Cavernous Malformation term browser
Symbol Object Name 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 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        Nervous System Malformations 2060
          Central Nervous System Vascular Malformations 48
            cerebral cavernous malformation 17
              Familial Cerebral Cavernous Malformation 2
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Hemic and Lymphatic Diseases 3313
        hematopoietic system disease 2848
          blood coagulation disease 843
            hemorrhagic disease 812
              vascular hemostatic disease 439
                cavernous hemangioma 18
                  cerebral cavernous malformation 17
                    Familial Cerebral Cavernous Malformation 2
paths to the root