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.
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:612925 DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar Annotator: match by OMIM:612922 ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism protein:increased expression:peripheral blood mononuclear cell (human) DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human) DNA:missense mutations:cds:p.R69W, p.A304V (human) DNA:mutations:cds:multiple (human)
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense mutations: :multiple ClinVar Annotator: match by OMIM:612924
DNA:missense mutation ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple ClinVar Annotator: match by OMIM:235400 DNA:deletion:Cds: DNA:SNPs,Haplotype::
ClinVar Annotator: match by OMIM:235400 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to DNA:deletion
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:612923
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar Annotator: match by OMIM:612926 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism DNA:SNPs:5' utr, 3' utr:multiple DNA:missense mutations:CDS:multiple