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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant Alport syndrome
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Accession:DOID:0110032 term browser browse the term
Definition:An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene. (DO)
Synonyms:exact_synonym: ATS3;   Alport syndrome 3, autosomal dominant;   renal failure, and sensorineural hearing loss
 primary_id: MESH:C536586
 alt_id: OMIM:104200;   RDO:0002212
 xref: GARD:624;   ORDO:88918
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autosomal dominant Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:6902925

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Alport syndrome 13
        autosomal dominant Alport syndrome 3
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                autosomal dominant Alport syndrome 3
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.