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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:ITM2B-related cerebral amyloid angiopathy 1
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Accession:DOID:0070029 term browser browse the term
Definition:A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. (DO)
Synonyms:exact_synonym: FBD;   cerebral amyloid angiopathy, British type;   familial British dementia;   presenile dementia with spastic ataxia
 primary_id: MESH:C538208
 alt_id: OMIM:176500
 xref: GARD:8344
For additional species annotation, visit the Alliance of Genome Resources.


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ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by OMIM:176500 OMIM
ClinVar
PMID:10391242, PMID:21610757, PMID:11159188 RGD:1358403 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        Proteostasis Deficiencies 310
          amyloidosis 60
            cerebral amyloid angiopathy 11
              ITM2B-related cerebral amyloid angiopathy 1 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            cerebrovascular disease 831
              intracranial arterial disease 246
                cerebral arterial disease 198
                  cerebral amyloid angiopathy 11
                    CST3-related cerebral amyloid angiopathy 3
                      ITM2B-related cerebral amyloid angiopathy 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.