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Term:autosomal recessive Alport syndrome
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Accession:DOID:0110033 term browser browse the term
Definition:An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. (DO)
Synonyms:exact_synonym: ATS2;   Alport syndrome 2, autosomal recessive
 primary_id: MESH:C536587
 alt_id: OMIM:203780;   RDO:0002213
 xref: GARD:625;   ORDO:88919
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autosomal recessive Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:5688157
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:7240710
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Alport syndrome 13
        autosomal recessive Alport syndrome 4
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal recessive disease 2338
                autosomal recessive Alport syndrome 4
paths to the root


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