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Total: 18893 cases


(per page)

Rank
(Similarity)
Case
Matched Phenotype  Matched Gene 

199
(37.3%)

DECIPHER:285797

Abnormality of the intrahepatic bile duct Hypotelorism

199
(37.3%)

DECIPHER:279825

Pigment gallstones Psychosis

199
(37.3%)

DECIPHER:285761

Biliary atresia Long eyelashes

199
(37.3%)

DECIPHER:284400

Aplasia/Hypoplasia of the gallbladder Axillary freckling

199
(37.3%)

DECIPHER:249591

Abnormality of the gallbladder Abnormality of the pancreas Aplasia of the uterus

199
(37.3%)

DECIPHER:285906

Absent gallbladder Hypertelorism

199
(37.3%)

DECIPHER:328104

Cyst of the ductus choledochus Recurrent urinary tract infections

199
(37.3%)

UDN:056

Cholelithiasis Neurogenic bladder

209
(37.3%)

MyGene2:1427

Abnormal abdomen morphology Abnormality of head or neck Abnormality of the integument

210
(37.0%)

MyGene2:1688

Abnormal abdomen morphology Abnormality of metabolism/homeostasis

210
(37.0%)

MyGene2:1693

Abnormal abdomen morphology Abnormality of metabolism/homeostasis

210
(37.0%)

MyGene2:1701

Abnormal abdomen morphology Abnormality of metabolism/homeostasis

210
(37.0%)

MyGene2:1759

Abnormal abdomen morphology Abnormality of metabolism/homeostasis

210
(37.0%)

MyGene2:2089

Abnormal abdomen morphology Abnormality of metabolism/homeostasis

210
(37.0%)

DECIPHER:331173

Ascites Cleft palate Hydrops fetalis

210
(37.0%)

MyGene2:1756

Abnormal abdomen morphology Abnormality of metabolism/homeostasis Abnormality of prenatal development or birth

210
(37.0%)

MyGene2:1757

Abnormal abdomen morphology Abnormality of metabolism/homeostasis Abnormality of prenatal development or birth

210
(37.0%)

MyGene2:1758

Abnormal abdomen morphology Abnormality of metabolism/homeostasis Abnormality of prenatal development or birth

210
(37.0%)

DECIPHER:268480

Ascites Edema Vaginal atresia

220
(36.7%)

MyGene2:1581

Congenital hypothyroidism Eczema Eosinophilia