← 返回搜尋

Senior-Boichis syndrome

ORPHA:84081 · Disease · Disorder

HPO 表現型（共 34 項）

Frequent (79-30%)(20)

  • Abnormal renal interstitial morphologyHP:0032581
  • Abnormal urinary electrolyte concentrationHP:0012591
  • CholestasisHP:0001396
  • Chronic kidney diseaseHP:0012622
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Hepatic fibrosisHP:0001395
  • HepatosplenomegalyHP:0001433
  • Hyperechogenic kidneysHP:0004719
  • HypertensionHP:0000822
  • Increased total bilirubinHP:0003573
  • Malformation of the hepatic ductal plateHP:0006563
  • PolydipsiaHP:0001959
  • Portal hypertensionHP:0001409
  • Reduced number of intrahepatic bile ductsHP:0006571
  • Reduced renal corticomedullary differentiationHP:0005565
  • Renal corticomedullary cystsHP:0000108
  • Renal hypoplasiaHP:0000089
  • Thickening of the tubular basement membraneHP:0020132
  • Tubular luminal dilatationHP:0032622

Occasional (29-5%)(14)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Aggressive behaviorHP:0000718
  • AgitationHP:0000713
  • AnemiaHP:0001903
  • AscitesHP:0001541
  • Attention deficit hyperactivity disorderHP:0007018
  • Carotid artery dilatationHP:0012163
  • CirrhosisHP:0001394
  • Congenital hepatic fibrosisHP:0002612
  • Diffuse cerebral atrophyHP:0002506
  • Esophageal varixHP:0002040
  • Renal atrophyHP:0012585
  • Stage 5 chronic kidney diseaseHP:0003774
  • Suicidal ideationHP:0031589