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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 visceral amyloidosis
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Accession:DOID:0050636 term browser browse the term
Definition:An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. (DO)
Synonyms:exact_synonym: Amyloidosis 8;   Amyloidosis VIII;   Amyloidosis, familial renal;   Amyloidosis, systemic nonneuropathic;   German type amyloidosis;   Ostertag type amyloidosis;   cardiac and cutaneous amyloidosis
 narrow_synonym: AFIB AMYLOIDOSIS
 primary_id: MESH:C538249
 alt_id: OMIM:105200
 xref: GARD:8282;   ORDO:85450
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
familial visceral amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Amyloidosis 8
ClinVar Annotator: match by term: Ostertag type amyloidosis
ClinVar Annotator: match by OMIM:105200
ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous
OMIM
ClinVar
PMID:1502149 PMID:1901417 PMID:4304452 PMID:8675681 PMID:9916936 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by synonym: Ostertag type amyloidosis ClinVar
OMIM
PMID:22693999 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Amyloidosis 8
ClinVar Annotator: match by term: Ostertag type amyloidosis
ClinVar Annotator: match by term: AFib amyloidosis
ClinVar Annotator: match by OMIM:105200
OMIM
ClinVar
PMID:8097946 PMID:8113408 PMID:8639778 PMID:8944230 PMID:9389696 More... NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Lyz2 lysozyme 2 ISO ClinVar Annotator: match by OMIM:105200
ClinVar Annotator: match by term: Amyloidosis 8
OMIM
ClinVar
PMID:1808634 PMID:8464497 PMID:8566845 PMID:10534505 PMID:11849445 More... NCBI chr 7:52,906,810...52,912,154
Ensembl chr 7:52,906,811...52,912,106
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        inherited metabolic disorder 2619
          Familial Amyloidosis 32
            familial visceral amyloidosis 4
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                familial visceral amyloidosis 4
paths to the root