Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly |
ORPHA:2432 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... |
ORPHA:521219 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:615524 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Cryptorchidism, Hepatomegaly |
OMIM:613730 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis |
ORPHA:79095 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc... |
OMIM:615710 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Microphthalmia, Ascites |
ORPHA:858 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice |
OMIM:232800 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microphthalmia, Hepati... |
OMIM:618805 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... |
ORPHA:171 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure |
OMIM:614886 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Cholestasis |
ORPHA:232 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:288 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97261 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Hereditary Spherocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Unilateral microphthalmos |
OMIM:615085 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... |
ORPHA:1414 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis |
OMIM:240300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Cholelithiasis, Decreased testicular size |
OMIM:300534 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis |
OMIM:618775 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:487825 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Biliary tract abnormality |
ORPHA:3191 |
Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder |
OMIM:184705 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism |
OMIM:601349 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Cholelithiasis |
ORPHA:464738 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:600118 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:602342 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples... |
OMIM:618268 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:601794 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Enlarged kidney |
OMIM:613885 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:363741 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Neonatal death, Microphthalmia, Decreased testicular size |
ORPHA:85284 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hepatomegaly |
OMIM:619053 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96092 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Joubert Syndrome 37 |
|
Cryptorchidism, Microphthalmia, Decreased testicular size, Hepatomegaly |
OMIM:619185 |
Porphyria, Congenital Erythropoietic |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis |
OMIM:263700 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... |
ORPHA:2470 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis |
OMIM:213700 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Microphthalmia, Absent gallbladder |
OMIM:617925 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia, Cardiomegaly |
OMIM:618652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia |
ORPHA:1335 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... |
ORPHA:79303 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Absent gallbladder |
ORPHA:3186 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia |
OMIM:610125 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Decrease... |
ORPHA:335 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Gracile Bone Dysplasia |
|
Asplenia, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites |
OMIM:602361 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Cardiomegaly |
ORPHA:97297 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:214150 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microphthalmia |
OMIM:612379 |
Triploidy |
|
Hepatomegaly, Abnormality of the pancreas, Cryptorchidism, Abnormality of the gallbladder, Aplasi... |
ORPHA:3376 |
Trisomy 8P |
|
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder |
ORPHA:264450 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Lathosterolosis |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Bilobate gallbladder, Hepatosplenomegaly |
OMIM:607330 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Ascites, ... |
ORPHA:100086 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Chole... |
ORPHA:567 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... |
ORPHA:77293 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:3378 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Pancreatic hypoplasia |
ORPHA:83617 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pancreatic hypoplasia... |
ORPHA:2255 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:909 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:139471 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:2189 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis |
ORPHA:2072 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Cryptorchidism |
OMIM:618494 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:77298 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia, Abdominal adhesions |
OMIM:616395 |
Moebius Syndrome |
|
Microphthalmia, Decreased testicular size |
OMIM:157900 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:243310 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:228390 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:494344 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Adams-Oliver Syndrome |
|
Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Microphthalmia, Ascites |
ORPHA:974 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
ORPHA:163979 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Refsum Disease |
|
Splenomegaly, Microphthalmia |
ORPHA:773 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Decreased testicular size, Cryptorchidism |
OMIM:615663 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Ovarian car... |
ORPHA:273 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test |
OMIM:609053 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Trisomy 10P |
|
Absent gallbladder |
ORPHA:171929 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism |
ORPHA:404440 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Congenital hypoparathyroidism, Decreased response to growth hormone stimulation t... |
OMIM:241410 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... |
ORPHA:2869 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:612530 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Decreased testicular size |
OMIM:614222 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Bilateral microphthalmos |
ORPHA:369891 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Digeorge Syndrome |
|
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... |
OMIM:188400 |
Marden-Walker Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:248700 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia |
OMIM:600001 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:899 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple |
OMIM:620098 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Zttk Syndrome |
|
Absent gallbladder |
OMIM:617140 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cryptorchidism |
OMIM:619135 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla... |
ORPHA:733 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Stromme Syndrome |
|
Accessory spleen, Microphthalmia, Stillbirth, Optic nerve hypoplasia |
OMIM:243605 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Williams Syndrome |
|
Cardiomegaly, Cryptorchidism, Polycystic ovaries, Aplasia/Hypoplasia of the iris, Cholelithiasis |
ORPHA:904 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Cryptorchidism |
ORPHA:3301 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Cryptorchidism |
ORPHA:2728 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Cryptorchidism |
ORPHA:2505 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Tetrasomy 9P |
|
Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism |
ORPHA:3310 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Cryptorchidism |
OMIM:613001 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Cryptorchidism |
OMIM:614225 |
Micro Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:2510 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Cat Eye Syndrome |
|
Microphthalmia, Biliary atresia |
OMIM:115470 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Bile duct ... |
OMIM:261515 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic... |
ORPHA:564 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Mosaic Trisomy 9 |
|
Asplenia, Microphthalmia, Abnormal liver lobulation, Cryptorchidism |
ORPHA:99776 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Microphthalmia, Cryptorchidism |
OMIM:619148 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Martsolf Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:212720 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Microphthalmia |
OMIM:251230 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:244300 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder |
ORPHA:96176 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Meckel Syndrome 14 |
|
Microphthalmia, Hepatic fibrosis |
OMIM:619879 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid |
OMIM:606519 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Mosaic Trisomy 1 |
|
Microphthalmia, Hepatic agenesis |
ORPHA:1692 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Thyroid C cell hyperplasia |
OMIM:300952 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Frontorhiny |
|
Microphthalmia, Hypopituitarism |
ORPHA:391474 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Optic nerve hypoplasia |
ORPHA:500150 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Cryptorchidism, Neonat... |
OMIM:146510 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Cryptor... |
OMIM:206900 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Cryptorchidism |
ORPHA:568 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:284160 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Macronodula... |
OMIM:620005 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, Increased circulating gonadotropin level |
OMIM:110100 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Microphthalmi... |
OMIM:308300 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:614230 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Neonatal death, Hy... |
OMIM:601186 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Decreased response to growth hormone stimulation test, Cryptorchidism |
OMIM:603467 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Polycystic ovaries, Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Cohen Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:193 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:264480 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia, Stillbirth, Cryptorchidism |
OMIM:616300 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles... |
OMIM:613610 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Supernumerary nipple |
ORPHA:1236 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:3412 |
Jacobsen Syndrome |
|
Microphthalmia, Annular pancreas, Macular hypoplasia, Cryptorchidism |
OMIM:147791 |
Peters-Plus Syndrome |
|
Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder |
OMIM:261540 |
Vacterl/Vater Association |
|
Cryptorchidism, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:887 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:2250 |
Fryns Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:2059 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Acute hepatic failure |
ORPHA:2092 |
Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Cryptorchidism |
OMIM:300895 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism |
OMIM:236670 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Unilateral microphthalmos |
OMIM:618874 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Cryptorchidism |
OMIM:600901 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia, Hepatomegaly |
ORPHA:2538 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:250989 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... |
OMIM:249000 |
Holoprosencephaly |
|
Anophthalmia, Abnormality of the spleen, Cryptorchidism, Microphthalmia, Anterior hypopituitarism... |
ORPHA:2162 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:251014 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Cryptorchidism |
OMIM:227650 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
OMIM:607323 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Joubert Syndrome 2 |
|
Microphthalmia |
OMIM:608091 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum |
ORPHA:2612 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:234100 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia |
OMIM:127000 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Incontinentia Pigmenti |
|
Microphthalmia, Supernumerary nipple |
ORPHA:464 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Trisomy 18 |
|
Microphthalmia, Cryptorchidism |
ORPHA:3380 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Cryptorchidism |
OMIM:223370 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Cryptorchidism |
OMIM:227645 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Annular pancreas, Cryptorchidism |
OMIM:268400 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Annular pancreas, Cryptorchidism |
OMIM:227646 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Cockayne Syndrome B |
|
Hepatomegaly, Splenomegaly, Cryptorchidism, Hypoplasia of the iris, Microphthalmia |
OMIM:133540 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... |
OMIM:613658 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Cryptorchidism, Stillbirth, Polysplenia, Microphthalmia |
OMIM:229850 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Prolonged neonatal j... |
OMIM:620186 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Microphthalmia, Splenomegaly, Hepatomegaly |
ORPHA:90324 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Ovarian fibroma, Ovarian carcinoma |
OMIM:109400 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Abdominal situs inversus, Cryptorchidism |
ORPHA:2108 |
Monosomy 9Q22.3 |
|
Microphthalmia, Ovarian fibroma |
ORPHA:77301 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Thyroid hypoplasia, Cryptorchidism |
ORPHA:2166 |
Liver Disease, Severe Congenital |
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Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Biliary hyperplasia, Intrahepatic chol... |
OMIM:619991 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Exocrine pancreatic insufficiency |
ORPHA:508498 |
Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos |
ORPHA:2839 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Annular pancreas, Cryptorchidism |
OMIM:616975 |
Treacher-Collins Syndrome |
|
Microphthalmia, Hypoplasia of the thymus, Thyroid hypoplasia, Cryptorchidism |
ORPHA:861 |
Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Ectopic thyroid |
ORPHA:42775 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia |
ORPHA:50 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Fanconi Anemia |
|
Cryptorchidism, Aplasia/Hypoplasia of the iris, Abnormality of the liver, Microphthalmia, Abnorma... |
ORPHA:84 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Ascites |
ORPHA:1052 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia |
OMIM:304050 |
Degcags Syndrome |
|
Hepatomegaly, Cryptorchidism, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphology, Microp... |
OMIM:619488 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Splenomegaly, Microphthalmia |
ORPHA:191 |
Bartsocas-Papas Syndrome 1 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:263650 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Cryptorchidism |
ORPHA:1106 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Microphthalmia, Hyperparathyroidism, Cryptorchidism |
ORPHA:534 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos |
ORPHA:33364 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism |
OMIM:610828 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess |
ORPHA:436252 |
Mend Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:401973 |
Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia, Adrenal gland agenesis |
OMIM:273395 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Cryptorchidism, Hypoplastic nipples, Neonatal death, Microphthalmia, Left ventricu... |
OMIM:612289 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Monosomy 9P |
|
Microphthalmia, Cryptorchidism |
ORPHA:261112 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia, Cryptorchidism |
OMIM:609945 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:603457 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:613884 |
Roberts Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3103 |
Neurofibroma |
|
Enlargement of parotid gland, Abnormal biliary tract morphology |
ORPHA:252183 |
Myhre Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:139210 |
Smith-Lemli-Opitz Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia affecting the eye, Abnormality of the gallbladder |
ORPHA:818 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia, Abnormal testis morphology |
ORPHA:2556 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cryptorchidism, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia |
OMIM:309801 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Cryptorchidism |
OMIM:616734 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Phthisis bulbi, Anophthalmia, Cryptorchidism |
OMIM:300166 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Microphthalmia, Stillbirth, Adrenal gland dysgenesis |
OMIM:236680 |
Charge Syndrome |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Cryptorchidism |
ORPHA:138 |
Neu-Laxova Syndrome 1 |
|
Neonatal death, Microphthalmia, Stillbirth, Cryptorchidism |
OMIM:256520 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Yunis-Varon Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Cardiomegaly, Cryptorchidism |
ORPHA:3472 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size |
ORPHA:93325 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Supernumerary nipple, Cryptorchidism, Hypoplastic nipples, Aniridia, Microphthalmia |
OMIM:305600 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Supernumerary nipple |
OMIM:100300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Renpenning Syndrome 1 |
|
Microphthalmia, Decreased testicular size |
OMIM:309500 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Cryptorchidism, Adrenocorticotropic hormone deficiency, Gonadotropin deficien... |
ORPHA:672 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Decreased response to growth hormone stimulation test, Cryptorc... |
OMIM:214800 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:2052 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cryptorchidism, Biliary tract abnormality, Stillbirth, Microphthalmia |
OMIM:268300 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:309000 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma |
OMIM:619539 |
Witteveen-Kolk Syndrome |
|
Microphthalmia, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test |
OMIM:613406 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Supernumerary nipple, Cryptorchidism, Microphthalmia, Duplication of internal organs |
OMIM:113620 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Cryptorchidism |
ORPHA:649 |
Fraser Syndrome 1 |
|
Cryptorchidism, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Cryptorchidism |
OMIM:607932 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hypoplasia, Exocrine pancreati... |
ORPHA:508488 |
Holoprosencephaly 2 |
|
Microphthalmia, Anterior pituitary agenesis |
OMIM:157170 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:235730 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Townes-Brocks Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:857 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Microphthalmia, Hydrocele testis, Cryptorchidism |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Asplenia, Microphthalmia, Hydrocele testis, Cryptorchidism |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Microphthalmia, Hydrocele testis, Cryptorchidism |
ORPHA:261552 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:309800 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |