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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 IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CAND2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 3:12,796,680...12,834,803
Ensembl chr 3:12,796,472...12,871,916
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22046
    disease of anatomical entity 20604
      nervous system disease 16498
        Nervous System Malformations 2214
          Central Nervous System Vascular Malformations 51
            cerebral cavernous malformation 19
              Familial Cerebral Cavernous Malformation 2
Path 2
Term Annotations click to browse term
  disease 22046
    disease of anatomical entity 20604
      Hemic and Lymphatic Diseases 3783
        hematopoietic system disease 3271
          blood coagulation disease 1038
            hemorrhagic disease 976
              vascular hemostatic disease 460
                cavernous hemangioma 20
                  cerebral cavernous malformation 19
                    Familial Cerebral Cavernous Malformation 2
paths to the root