Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:620010 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Hypervalinemia And Hyperleucine-Isoleucinemia |
|
Hypervalinemia, Hyperisoleucinemia, Elevated circulating alanine aminotransferase concentration, ... |
OMIM:618850 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Edinburgh Malformation Syndrome |
|
Jaundice, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... |
ORPHA:890 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi... |
OMIM:601847 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Cogn... |
ORPHA:673 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S... |
ORPHA:93323 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral... |
ORPHA:168621 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre... |
OMIM:174050 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... |
OMIM:310490 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Hyposerinemia |
OMIM:614023 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil... |
OMIM:211600 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Galactose Mutarotase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem... |
ORPHA:570422 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
OMIM:617049 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Cholelithiasis, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cho... |
OMIM:266200 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:617093 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyper... |
OMIM:614702 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis, Flat acetabular ... |
OMIM:184260 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... |
ORPHA:30391 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Conjugated hyperbilirubinemia... |
OMIM:617156 |
Winchester Syndrome |
|
Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, General... |
OMIM:277950 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Low-set ears, Ambigu... |
OMIM:613885 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... |
OMIM:251880 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hyperalaninemia, Hypoglycemia, Congestive heart failure, Bradycardia, Le... |
OMIM:619048 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity ... |
OMIM:610539 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive |
ORPHA:172 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Increased se... |
OMIM:603358 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density, Abnormal pelvic... |
ORPHA:2370 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short stature, Elevated ... |
OMIM:611881 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Corneal opacity, Large for gestational age, Microcornea, Microphthalmia |
ORPHA:2432 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia, F... |
OMIM:230350 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hepatocellular car... |
ORPHA:369 |
Femoral-Facial Syndrome |
|
Short femur, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidne... |
ORPHA:1988 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Prolonged neonatal jaun... |
OMIM:618892 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly, ... |
OMIM:269920 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
OMIM:610717 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Cholestatic liver disease |
OMIM:602114 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulati... |
OMIM:620366 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Mild postnatal growth retardation, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
Cln3 Disease |
|
Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Mental deterioration, Depression, ... |
ORPHA:228346 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Low-set ears, Epiphyseal stippling, Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy... |
OMIM:306000 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly |
ORPHA:2576 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase conce... |
OMIM:212138 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, ... |
ORPHA:1667 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... |
OMIM:616299 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Phocomeli... |
ORPHA:3103 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Os... |
OMIM:610947 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Depression, Type... |
OMIM:614296 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati... |
OMIM:618775 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Metaphyseal widening, Flexion contracture,... |
OMIM:263210 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Microcoria, Anophthalmia, Iris coloboma |
OMIM:616428 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Corneal dystrophy, Craniosynostosis, Larg... |
ORPHA:314588 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Failure to thrive, Cataract, Brushfield spots, Cryptorchidism, Metatarsus adductus,... |
OMIM:214110 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Postna... |
OMIM:227810 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Tapered finger, Long fingers, Atrioventricular block, Glucose intoler... |
OMIM:614407 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Glycogen Storage Disease Vii |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:232800 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst, Polydactyly, Hypogonadism |
OMIM:615987 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... |
OMIM:601005 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hyperammonemi... |
OMIM:615160 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Elevated circ... |
OMIM:613327 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Fa... |
OMIM:259720 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Trisomy 13 |
|
Cataract, Anophthalmia, Cryptorchidism, Sensorineural hearing impairment, Postaxial hand polydact... |
ORPHA:3378 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humer... |
ORPHA:2741 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Hyperbiliverdinemia |
|
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis |
OMIM:614156 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay |
ORPHA:79238 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Small for gestational age, Neonatal hyperbilirubinemia, Retinal degeneration |
ORPHA:3363 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Rhyns Syndrome |
|
Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor... |
ORPHA:140976 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Joint stiffness, Reduced bone mineral density, Abnorm... |
ORPHA:577 |
Sialidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, Nephropat... |
ORPHA:87876 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot... |
OMIM:206920 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Short stature, Obesity |
ORPHA:329249 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Spherocytosis, Type 4 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:612653 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Corneal opacity, Proteinuria, Stage... |
OMIM:166300 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:619685 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, In... |
OMIM:615710 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase |
OMIM:620265 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Anophthalmia, Sclerocornea, Proximal placement of thumb, Cryptorchid... |
ORPHA:139471 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:232400 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb... |
ORPHA:95717 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Met... |
ORPHA:2788 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
Hereditary Elliptocytosis |
|
Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun... |
ORPHA:288 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Growth delay, Hyperbilirubinemia, Decreased body we... |
OMIM:614886 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ... |
ORPHA:521219 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... |
ORPHA:231169 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Sensorineural hearing im... |
ORPHA:290 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma |
OMIM:611638 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:614727 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Tremor,... |
ORPHA:713 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Small for gestational age, Leukocytosis, Abnormal heart morphology, Bradycar... |
ORPHA:391673 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy, Fai... |
OMIM:618235 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni... |
OMIM:613091 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hypoglycemia, Small for gestational age, Insulin resistance, Osteoporosis, ... |
ORPHA:73272 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Hepatomegaly, Hypospadias, Brushfield spots, Cryptorchidism, Hepatosplenomegaly, Epip... |
OMIM:614866 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Rena... |
OMIM:615982 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Peripheral axonal neuropathy, Diabetes mellitus, Supraventricular arrhythmia, Optic atrophy, Card... |
ORPHA:320360 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Abetalipoproteinemia |
|
Osteopenia, Abnormality of retinal pigmentation, Reticulocytosis, Decreased HDL cholesterol conce... |
ORPHA:14 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Splen... |
OMIM:607616 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Hematuria, Microphtha... |
ORPHA:1473 |
Spherocytosis, Type 2 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616649 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli... |
OMIM:614091 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... |
OMIM:614972 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opacity, Hepatomegaly, Spl... |
ORPHA:61 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Macrocytic anemia, Decreased circulatin... |
ORPHA:199299 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Hip dislocation, Hepatosplenomegaly, Low-set ears, Polycystic kidney dysplasia, Fai... |
OMIM:608776 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level |
OMIM:609016 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... |
ORPHA:98870 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Cataract, Proteinuria, Foot joint contr... |
ORPHA:90321 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent... |
OMIM:601775 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancr... |
ORPHA:2470 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Vesicoureteral reflux, Micropenis, Hepatomegaly, Hypospadias, Cryptorchidism, Postaxi... |
OMIM:301056 |
Galactosialidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:351 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogly... |
ORPHA:324575 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge... |
OMIM:261750 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, 2-3 toe syn... |
OMIM:617866 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteo... |
ORPHA:53 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia,... |
OMIM:617053 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Trisomy 17P |
|
Hypoplasia of penis, Cataract, Urethral valve, Tapered finger, Urethral stenosis, Flexion contrac... |
ORPHA:261290 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb... |
ORPHA:95716 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Hypospadias, Cryptorchidism, Flexion contracture, Developmental cataract, EEG ab... |
OMIM:618815 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia, Dystonia |
OMIM:614654 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Retinal dystrophy, Ventricular septal defect, Cardiac arrest, Megaloblastic an... |
ORPHA:49827 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Rh-Null, Regulator Type |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Bradycardia, Third degree atrioventricular block, Restricti... |
OMIM:601419 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Unilateral... |
OMIM:113650 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Sagittal craniosynostosis, Pancreatic cysts, Splenomegaly, Developmenta... |
OMIM:610199 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Hypocalcemia, Del... |
ORPHA:94093 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia... |
OMIM:612526 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... |
ORPHA:52368 |
D-Glyceric Aciduria |
|
Hypoglycemia, Optic nerve hypoplasia, Nonketotic hyperglycinemia, Opisthotonus, Bradycardia, Fail... |
OMIM:220120 |
Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Hyperbilirubinemia |
OMIM:301094 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... |
OMIM:603553 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurologic deteriorat... |
OMIM:300438 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyop... |
ORPHA:26792 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Meckel Syndrome 13 |
|
Flexion contracture, Polycystic kidney dysplasia |
OMIM:617562 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Tetanus |
|
Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus... |
ORPHA:3299 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situ... |
OMIM:249270 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum... |
OMIM:277900 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... |
ORPHA:186 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... |
OMIM:145001 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dystonia |
OMIM:616277 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Low-set ears, Epiphyseal stippling, Renal cyst, Hepatomegaly |
OMIM:614870 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Psychomotor deterioration, Flexion contracture, Optic atrophy, Vacuolated lymphocytes, Depression... |
OMIM:256730 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Cataract, Posteriorly rotated ears, L... |
OMIM:608836 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiom... |
OMIM:204200 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve... |
ORPHA:210110 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Anophthalmia, Small scrotum, Camptodactyly of finger, Arachnodactyl... |
ORPHA:261344 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Crypto... |
OMIM:610125 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Hypospadias, Cryptorchidism, Osteoporosis, Osteolytic defects of the ph... |
OMIM:102500 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Osteoporosis, Hyperhomocystinemia... |
ORPHA:2169 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizure... |
ORPHA:276580 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Access... |
ORPHA:564 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Phocomelia, Hepatomegaly, Mu... |
ORPHA:2538 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:95715 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Depression, Cardiomyopathy, Dementia, Bradycardia, Arrhythmia, Sensory axonal ... |
OMIM:609286 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Micromelia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly |
OMIM:610015 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Posteriorly rotated ears, Cryptorch... |
ORPHA:899 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ... |
OMIM:609465 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... |
ORPHA:811 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ureteral stenosis, Arachnodactyly, Abnormal thumb morphology, Cryptorc... |
ORPHA:2719 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro... |
OMIM:619064 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Erythrokeratodermia Variabilis |
|
Brachydactyly, Cataract, Corneal opacity, Tapered finger, Protruding ear, Weight loss, Abnormal t... |
ORPHA:317 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Failure to thrive in infancy, Increased circulatin... |
OMIM:618156 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... |
ORPHA:77298 |
Graft Versus Host Disease |
|
Tachycardia, Dupuytren contracture, Lipodystrophy, Fasciitis, Limited elbow movement, Limited sho... |
ORPHA:39812 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Vesicoureteral reflux, Axial ... |
OMIM:274000 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... |
OMIM:613490 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Normocytic anemia, Progressive neurologic ... |
ORPHA:247691 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe |
ORPHA:411986 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Leg dystonia, Congenital foot contracture... |
ORPHA:565624 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... |
OMIM:263200 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Pancytopenia, Femur fracture, Facial palsy, Craniosynostosis, Fai... |
OMIM:259700 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Depression, Glucose intolerance, ... |
ORPHA:411590 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tracheo... |
OMIM:612561 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Failure to thrive, Elevated circulating creatine kinase c... |
OMIM:500009 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,... |
OMIM:608885 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Abnormal retinal morphology, Aplasia/hypop... |
ORPHA:40366 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, ... |
ORPHA:281090 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul... |
ORPHA:276575 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl... |
OMIM:618061 |
Acrorenal-Mandibular Syndrome |
|
Aplasia of the bladder, Hypoplasia of the ulna, Split hand, Bicornuate uterus, Split foot, Low-se... |
OMIM:200980 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Hyperkalemia, ... |
OMIM:610600 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:617872 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti... |
ORPHA:3240 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Anemia of inadequate production, High-output congestive heart failu... |
ORPHA:231214 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascul... |
ORPHA:104 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased c... |
ORPHA:276556 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, H... |
ORPHA:85138 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology,... |
ORPHA:935 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Cardiom... |
ORPHA:79312 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology, Joint ... |
OMIM:614498 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Metatarsus addu... |
ORPHA:2557 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... |
OMIM:610202 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Large for gestational age, Attention deficit hyperactivity disorder, Hyperbilirubin... |
OMIM:619075 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, H... |
ORPHA:95409 |
Birk-Landau-Perez Syndrome |
|
Dystonia, Failure to thrive in infancy, Optic atrophy, Hyperkalemia, Choreoathetosis, Hypertensio... |
OMIM:617595 |
|