Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Growth delay, Failure to thrive, Hyperbilirubinemia, Cir... |
OMIM:605814 |
Hypervalinemia And Hyperleucine-Isoleucinemia |
|
Hyperleucinemia, Hypervalinemia, Elevated circulating alanine aminotransferase concentration, Hyp... |
OMIM:618850 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... |
OMIM:232700 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia, Jaundice |
OMIM:129850 |
Crigler-Najjar Syndrome Type 2 |
|
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice |
OMIM:237500 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulat... |
OMIM:235555 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/coenzyme activity, Intermitten... |
ORPHA:3111 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... |
OMIM:214950 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:606785 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Increased body w... |
ORPHA:890 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... |
ORPHA:79234 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... |
OMIM:601369 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... |
OMIM:619662 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... |
OMIM:614480 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... |
OMIM:607765 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:218800 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... |
OMIM:618528 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... |
ORPHA:79302 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Flattened femoral head, Leukocytosis, Congenital hip dislocation, Multicentric femoral head ossif... |
ORPHA:168621 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... |
OMIM:614300 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Short stature, Failure to thrive, Splenomegaly, Cirrhosis... |
OMIM:601847 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... |
OMIM:605479 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Conjugated hype... |
OMIM:619484 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... |
OMIM:243300 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:143500 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hyperbilirubinemia, Short stature, Splenomegaly |
OMIM:613673 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Renal dysplasia, Hypoplastic acetabulae... |
ORPHA:93323 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Ascites, Incre... |
OMIM:174050 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... |
ORPHA:567983 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Intrauterine growth retardation, Ascites, Failure to thrive, Ci... |
OMIM:617156 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... |
ORPHA:247598 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Growth delay, Ascites, Failure to thrive, Depletion of mit... |
OMIM:251880 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahep... |
OMIM:211600 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis, Abnorm... |
ORPHA:570422 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Increased circulating... |
OMIM:616860 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Cholestasis, Hyperbilirubinemia |
OMIM:609734 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Decreased skull ossification, Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Growth delay, Failure to thrive, Elevated circulating creatine kinase concentration... |
OMIM:615895 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... |
ORPHA:234 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransf... |
OMIM:617049 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... |
ORPHA:1344 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Intrauterine growth retardation, Cholelithiasis, Splenomegaly, C... |
OMIM:266200 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:294 |
Odontochondrodysplasia 1 |
|
Irregular epiphyses, Small epiphyses, Genu varum, Metaphyseal cupping, Micromelia, Flared iliac w... |
OMIM:184260 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi... |
ORPHA:53035 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Failure to thrive |
OMIM:613861 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice |
OMIM:235700 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity, Hepatomegaly |
ORPHA:1980 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
Harderoporphyria |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:618892 |
Winchester Syndrome |
|
Corneal opacity, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the... |
OMIM:277950 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Failure to thrive, Long fingers, Glucose intolerance, Impaired glucose tolerance,... |
OMIM:614407 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Increased hepatic glycogen content |
OMIM:261750 |
Gracile Syndrome |
|
Increased serum iron, Intrauterine growth retardation, Increased circulating ferritin concentrati... |
OMIM:603358 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:185000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials |
ORPHA:99852 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... |
OMIM:613812 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
Intrahepatic Cholestasis Of Pregnancy |
|
Ascites, Small for gestational age, Hyperbilirubinemia, Abnormality of the pancreas, Increased se... |
ORPHA:69665 |
Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase |
OMIM:616299 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hepatic steatosi... |
OMIM:610717 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... |
ORPHA:369 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Failure to thrive, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrop... |
OMIM:619048 |
Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation |
OMIM:274600 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Cholestatic liver disease |
OMIM:602114 |
Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Prolonged QT interval, Cardiomegaly, Bradycardia, Syndac... |
OMIM:601005 |
Spherocytosis, Type 1 |
|
Jaundice, Hyperbilirubinemia, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Cirrhosis, Decreased liver func... |
OMIM:613280 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia,... |
OMIM:616201 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... |
ORPHA:158057 |
Roberts Syndrome |
|
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... |
ORPHA:3103 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... |
OMIM:613027 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... |
OMIM:304400 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the metaphysis, Reduced bone mineral density, B... |
ORPHA:2370 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Reduced red cell pyruvate kinase level, Unconjugated hyperbilirubinemia, El... |
ORPHA:766 |
Femoral-Facial Syndrome |
|
Short femur, Long penis, Talipes equinovarus, Abnormal localization of kidney, Renal hypoplasia/a... |
ORPHA:1988 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Right ventricular hypertrophy, Failure to thrive, Cholestatic liver disease... |
OMIM:613404 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Metatarsus adductus, Aminoaciduria, Talipes equinovarus, Failure to thrive, Hypopla... |
OMIM:214110 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Galactosemia Iii |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Jaundice |
OMIM:230350 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... |
ORPHA:79301 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Acholic stools, Annular pancreas, Hyperbi... |
OMIM:615710 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia |
OMIM:619553 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyponatremia, Growth delay, Ascites, Short stature, Hyperbilirubinemia, Hyperammone... |
ORPHA:1667 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... |
OMIM:147480 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microphthalmia, Large for gestational age, Corneal opacity, Microcornea |
ORPHA:2432 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Epiphyseal stippling |
OMIM:614859 |
Short Rib-Polydactyly Syndrome |
|
Hypospadias, Abnormal ilium morphology, Reduced bone mineral density, Urogenital sinus anomaly, S... |
ORPHA:1505 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Myocardial inf... |
OMIM:610947 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Weight ... |
ORPHA:400 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
OMIM:615238 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... |
OMIM:617093 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Elevated circulating long chain fatty acid concentration, Short stature, Cholelithi... |
OMIM:614886 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Branchiootic Syndrome 1 |
|
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... |
OMIM:602588 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Reynolds Syndrome |
|
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulating alk... |
OMIM:613471 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... |
OMIM:613313 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Abnormality of the metaphys... |
ORPHA:290 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... |
OMIM:619274 |
Spherocytosis, Type 4 |
|
Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:612653 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c... |
OMIM:607616 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hyperalaninemia, Decreased liver function, Hyperammonemia, Elevated ci... |
OMIM:615160 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... |
ORPHA:562639 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... |
OMIM:600803 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Jaundice |
ORPHA:79238 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Postnatal growth r... |
ORPHA:288 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Failure to thrive, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
Sialidosis Type 2 |
|
Hepatomegaly, Osteoporosis, Hearing impairment, Splenomegaly, Tremor, Corneal opacity, Flexion co... |
ORPHA:87876 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... |
OMIM:618849 |
Trisomy 13 |
|
Optic atrophy, Hydronephrosis, Abnormality of the ureter, Microphthalmia, Abnormal morphology of ... |
ORPHA:3378 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Cholelithiasis, Hyperuricemia, Jaundice |
OMIM:232800 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Failure to thrive, Hyperalaninemia, Decreased liver function, Left ventricular hypertrophy, Eleva... |
OMIM:616974 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cog7-Cdg |
|
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Fail... |
ORPHA:79333 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Renal cyst, Hypogonadism, Obesity, Renal insufficiency, Abnormality of the kidney |
OMIM:615987 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypoglycemia, Ventricular tachycardia, Ventricular hypertrophy... |
OMIM:212138 |
Immunodeficiency 48 |
|
Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Neutropenia, Bradycardia |
OMIM:617248 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Polydactyly, External genital hypoplasia, Renal cyst, Syndactyly, Obesity |
OMIM:605231 |
Mirizzi Syndrome |
|
Gallbladder perforation, Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Cholesterol gallstones... |
ORPHA:521219 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Long Qt Syndrome 16 |
|
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... |
OMIM:618782 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating creatine kina... |
OMIM:232400 |
Lysosomal Acid Lipase Deficiency |
|
Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lysosomal acid lipase activ... |
OMIM:278000 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Cholelithiasis |
OMIM:300752 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Right ventricular hypertrophy, Failure to thrive, Cholestatic liver disease... |
OMIM:208085 |
Distal Tetrasomy 15Q |
|
Horseshoe kidney, Hydronephrosis, Nephroblastoma, Abnormal external genitalia, Craniosynostosis, ... |
ORPHA:314588 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Insulin resistance, Failure to thrive, Osteoporosis, ... |
OMIM:613327 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, External genital hypoplasia, Renal cyst, Hearing impairment, Hyp... |
OMIM:615993 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Metaphyseal widening, Large fleshy ears, Posteriorly rotated ears, Decreased skull ossification, ... |
OMIM:263210 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Idiopathic Congenital Hypothyroidism |
|
Abnormality of epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Umbilical ... |
ORPHA:95717 |
Spherocytosis, Type 2 |
|
Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:616649 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Mucolipidosis Type Iii |
|
Hypoplastic inferior ilia, Reduced bone mineral density, Craniofacial hyperostosis, Corneal opaci... |
ORPHA:577 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... |
OMIM:303110 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Axona... |
OMIM:601596 |
Cockayne Syndrome Type 1 |
|
Contractures involving the joints of the feet, Optic atrophy, Hepatomegaly, Failure to thrive, An... |
ORPHA:90321 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma |
OMIM:616428 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... |
OMIM:267700 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture |
OMIM:618815 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenom... |
ORPHA:848 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... |
ORPHA:90646 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Glomerulopathy, Neutropenia, Increased mean corpuscular volume, Failure to thr... |
ORPHA:2169 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Buphthalmos, Pancreatic hypoplasia, Pancreatic cysts, Splenic cyst, Renal cyst, Spl... |
OMIM:610199 |
Ophthalmomandibulomelic Dysplasia |
|
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... |
ORPHA:2741 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Alpha-Mannosidosis |
|
Hepatomegaly, Bowing of the long bones, Hypoplastic inferior ilia, Macrotia, Arthritis, Hearing i... |
ORPHA:61 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... |
OMIM:603471 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Growth delay, Short stature, Failure to thrive, Elevated circulating creatine kinas... |
OMIM:614727 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cone-shaped epiphysis, Nephronophthisis, Renal dysplasia, Craniosynostosis, Anemia,... |
OMIM:266920 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, EEG abnormality, Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:617519 |
Usher Syndrome Type 1 |
|
Subcortical cerebral atrophy, Sensorineural hearing impairment, Vestibular hypofunction, Cerebral... |
ORPHA:231169 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Microphthalmia, Leukemia, Anemia, Abnormal thumb morphology, Thrombocytopenia |
OMIM:614082 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Short stature, Hyperbilirubinemia, Elevated hepatic transaminase, Increased... |
ORPHA:98870 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Microphthalmia, Sclerocornea, Anophthalmia, Proximal placement of thumb, Iris colobo... |
ORPHA:139471 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metap... |
ORPHA:2788 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:268150 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemi... |
OMIM:601775 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Gout, Renal cyst, Nephropathy, Chronic k... |
OMIM:617056 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Talipes equinovarus, Hearing impairment, Micropenis, Large earlobe, Rocker bottom fo... |
OMIM:301056 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly |
OMIM:618541 |
Rhyns Syndrome |
|
Abnormal acetabulum morphology, Small epiphyses, Nephronophthisis, Abnormality of long bone morph... |
ORPHA:140976 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Hip dislocation, Hepatosplenomegaly, Polycystic kidney dysplasia |
OMIM:608776 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Matthew-Wood Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the p... |
ORPHA:2470 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Horseshoe kidney, Neutropenia, Increased mean corpuscular volume, Triphalangea... |
OMIM:612562 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abnormal live... |
OMIM:614972 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenom... |
OMIM:612526 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Anemia, Abnormality of the metaphysis, Long fibula, Reduced bone mineral d... |
ORPHA:935 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Opacification of the corneal stroma, Focal segmental glomeruloscleros... |
OMIM:242900 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing o... |
OMIM:614091 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased total bilirubin, Acute hepatiti... |
ORPHA:2137 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Neutropenia, Small for gestational age, Hyperglycemia, Abnormal heart morpho... |
ORPHA:391673 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyl... |
OMIM:613091 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Iris coloboma |
OMIM:611638 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level |
OMIM:609016 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Abnormality of epiphysis morphology, Delayed epiphyseal ossification, Large for gestational age, ... |
ORPHA:226313 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Growth delay, Ascites, Short stature, Hyperbilirubinemia, Splenomegaly, Hepatic fai... |
OMIM:259720 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Bowing of the long bones |
OMIM:211890 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... |
OMIM:615285 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... |
OMIM:301045 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... |
OMIM:206920 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Hepatomegaly, Proximal femoral metaphyseal irregular... |
OMIM:260400 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly, Hyper... |
OMIM:613885 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia |
OMIM:613977 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly |
OMIM:605911 |
Microgastria-Limb Reduction Defects Association |
|
Cystic renal dysplasia, Horseshoe kidney, Aganglionic megacolon, Hand oligodactyly, Asplenia, Pho... |
OMIM:156810 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational... |
ORPHA:324575 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, A... |
ORPHA:186 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Spleno... |
OMIM:603553 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia, Macrotia, Vertebral fusion |
OMIM:221950 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Splenomegaly, Cirrhosis,... |
ORPHA:1414 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Dementia, Cardiomyopathy, Bradycardia, Diabetes mellitus, Arrhythmia |
OMIM:609286 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... |
ORPHA:73272 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction |
ORPHA:231183 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Bicornuate uterus, Cryptorchidism, Microphthalmia |
OMIM:615524 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... |
ORPHA:3344 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atro... |
ORPHA:52368 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Normochromic anemia, Proteinuria, Opacification of the corneal stroma, Hemolytic anemia, Renal in... |
OMIM:245900 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Microphthalmia, Posterior embryotoxon, Hematuria, Iris coloboma, Sensorineural hea... |
ORPHA:1473 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, M... |
OMIM:600649 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Polydactyly |
OMIM:615397 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, External genital hypoplasia, Renal cyst, Hypogonadism, Syndactyly, Obesity, Cryptorc... |
OMIM:615982 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ... |
ORPHA:131 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar... |
OMIM:617866 |
Acquired Partial Lipodystrophy |
|
Hearing impairment, Microscopic hematuria, Lymphocytosis, Glomerulopathy, Proteinuria |
ORPHA:79087 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Acute leukemia, Hypogonadism, Corneal opacity, Unilateral renal agenesis, Cr... |
ORPHA:281090 |
Galactosialidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:351 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... |
ORPHA:276608 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failu... |
OMIM:618641 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... |
ORPHA:65682 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Inguinal hernia, Flexion contracture |
OMIM:614498 |
Hereditary Spherocytosis |
|
Hepatomegaly, Growth delay, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Jaundice |
ORPHA:822 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Failure to thrive, Elevated gamma-glutamyltransferase level, Hyperalaninemia, Hepat... |
OMIM:614582 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Hydronephrosis, Tapered finger, Long fingers, Overfolded heli... |
OMIM:608836 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Hearing impairment |
ORPHA:95433 |
Meckel Syndrome |
|
Accessory spleen, Microphthalmia, Asplenia, Urethral atresia, Anophthalmia, Bowing of the long bo... |
ORPHA:564 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Abnormality of the urinary system, Anemia, Arachnodactyly, Sensorineural hearing... |
ORPHA:2719 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Renal agenesis, Dilatated internal auditory canal, Hypoplasia of t... |
OMIM:113650 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice |
OMIM:618549 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
Familial Short Qt Syndrome |
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Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Limited pronation/supination of forearm, Neutropenia, Anemia, Short middle phalanx of the 4th fin... |
OMIM:616738 |
Acquired Idiopathic Sideroblastic Anemia |
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Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Hypospadias, Microphthalmia, Sclerocornea, Anophthalmia, Rhizomelia, Cataract, Microcornea, Preco... |
OMIM:615877 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal di... |
ORPHA:276580 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Growth delay, Increased circulating ferritin concentration, Splenomegaly |
OMIM:615234 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
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Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Rh Deficiency Syndrome |
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Reduced haptoglobin level, Intrauterine growth retardation, Hyperbilirubinemia, Hepatosplenomegal... |
ORPHA:71275 |
Oslam Syndrome |
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Clinodactyly of the 5th finger, Abnormality of neutrophils, Increased mean corpuscular volume, Ra... |
ORPHA:2760 |
Beta-Thalassemia Intermedia |
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Leukocytosis, Hypoparathyroidism, Hepatomegaly, Erythroid hyperplasia, Proximal tubulopathy, Incr... |
ORPHA:231222 |
Trimethylaminuria |
|
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly |
OMIM:602079 |
Hemochromatosis, Type 4 |
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Glucose intolerance, Impaired glucose tolerance, Anemia, Cardiomyopathy, Diabetes mellitus, Osteo... |
OMIM:606069 |
Stiff-Person Syndrome |
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Hypertension, Opisthotonus, Agoraphobia, Anemia, Tachycardia, Exaggerated startle response, Diabe... |
OMIM:184850 |
Meckel Syndrome 13 |
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Polycystic kidney dysplasia, Flexion contracture |
OMIM:617562 |
Dominant Beta-Thalassemia |
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Dilated cardiomyopathy, Failure to thrive in infancy, Hypochromic microcytic anemia, Bowing of th... |
ORPHA:231226 |
Hyperparathyroidism 2 With Jaw Tumors |
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Parathyroid carcinoma, Pancreatic adenocarcinoma, Nephrolithiasis, Renal cortical adenoma, Polycy... |
OMIM:145001 |
Nephronophthisis 16 |
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Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... |
OMIM:603552 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Abnormal T cell morphology, Mucopolysacchariduria, Generalized bone demineralization, Nephrotic s... |
OMIM:215250 |
Intrinsic Factor Deficiency |
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Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Shwachman-Diamond Syndrome |
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Neutropenia, Pancreatic hypoplasia, Leukemia, Metaphyseal irregularity, Hearing impairment, Pancy... |
ORPHA:811 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
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Elevated circulating creatine kinase concentration, Hepatomegaly, Growth delay, Delayed puberty |
OMIM:615704 |
Intermediate Osteopetrosis |
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Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Generalized os... |
ORPHA:210110 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Talipes equinovarus, Metaphyseal irregularity, Long fibula, Iliac crest serration, S... |
OMIM:250220 |
Bile Acid Malabsorption, Primary, 2 |
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Decreased circulating chenodeoxycholic acid concentration, Elevated gamma-glutamyltransferase lev... |
OMIM:619481 |
Trisomy 17P |
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Urethral valve, Hydronephrosis, Urethral stenosis, Tapered finger, Hearing impairment, Polycystic... |
ORPHA:261290 |
Progressive Familial Heart Block, Type Ib |
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Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Eleva... |
OMIM:619064 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... |
OMIM:612561 |
Carnitine Palmitoyltransferase I Deficiency |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:255120 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Hepatomegaly, Metatarsus adductus, Talipes equinovarus, Epiphyseal stippling, Failure to thrive, ... |
OMIM:614866 |
Microgastria-Limb Reduction Defect Syndrome |
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Phocomelia, Renal dysplasia, Aplastic clavicle, Abnormality of the radius, Abnormality of the hum... |
ORPHA:2538 |
Beta-Thalassemia Major |
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Dilated cardiomyopathy, Failure to thrive in infancy, Anisopoikilocytosis, Hypochromic microcytic... |
ORPHA:231214 |
Mitochondrial Myopathy, Infantile, Transient |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Increased se... |
OMIM:500009 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
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Bradycardia |
ORPHA:2898 |
Wilson Disease |
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Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Renal tubular dysfunction, Hyperphosphaturia,... |
OMIM:277900 |
Dehydrated Hereditary Stomatocytosis |
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Neonatal hyperbilirubinemia, Cholelithiasis, Increased total bilirubin, Splenomegaly, Increased c... |
ORPHA:3202 |
Wolfram Syndrome, Mitochondrial Form |
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Optic atrophy, Hydronephrosis, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Sensorine... |
OMIM:598500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
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Hepatomegaly |
OMIM:615158 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... |
OMIM:618805 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Oculocerebrocutaneous Syndrome |
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Anophthalmia, Cryptorchidism, Microphthalmia, Congenital hip dislocation |
OMIM:164180 |
Gracile Syndrome |
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Decreased transferrin saturation, Intrauterine growth retardation, Elevated hepatic iron concentr... |
ORPHA:53693 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Bradycardia, Neonatal hypoglycemia, Cong... |
OMIM:261740 |
Atrial Standstill 2 |
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Atrial standstill, Scarring, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Ab... |
OMIM:615745 |
Nephronophthisis 14 |
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Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegaly |
OMIM:608971 |
Erythrokeratodermia Variabilis |
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Tapered finger, Weight loss, Hearing impairment, Abnormal testis morphology, Corneal opacity, Cat... |
ORPHA:317 |
Peripartum Cardiomyopathy |
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Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia, Increased level of L-pyroglutamic acid in urine, Intention tremor |
OMIM:266130 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Senior-Boichis Syndrome |
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Malformation of the hepatic ductal plate, Hepatic fibrosis, Ascites, Congenital hepatic fibrosis,... |
ORPHA:84081 |
Idiopathic Neonatal Atrial Flutter |
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Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... |
ORPHA:45452 |
Isolated Optic Nerve Hypoplasia/Aplasia |
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Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, U... |
ORPHA:137902 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... |
ORPHA:1830 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... |
OMIM:618963 |
Fumarase Deficiency |
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Failure to thrive, Cholestasis, Hepatic failure, Hyperbilirubinemia |
OMIM:606812 |
Schnitzler Syndrome |
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Leukocytosis, Hepatomegaly, Anemia, Arthritis, Splenomegaly, Increased bone mineral density |
ORPHA:37748 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:109270 |
Acitretin/Etretinate Embryopathy |
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Conotruncal defect, Third degree atrioventricular block, Abnormality of the calcaneus, Atrioventr... |
ORPHA:40366 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Cornea... |
ORPHA:650 |
Relapsing Fever |
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Elevated circulating creatinine concentration, Increased total bilirubin, Increased circulating l... |
ORPHA:91547 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limited elbow flexion, Leukocytosis, Decreased motor nerve conduction velocity, Abnormality of so... |
ORPHA:206594 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Osteopenia, Oligosacchariduria, Hepatosplenomegaly, Corneal opacity, Mixed hea... |
ORPHA:309288 |
Walker-Warburg Syndrome |
|
Microcornea, Optic atrophy, Microphthalmia, Anophthalmia, Posteriorly rotated ears, Iris coloboma... |
ORPHA:899 |
Specific Granule Deficiency 2 |
|
Neutropenia, Absent neutrophil specific granules, Simple ear, Failure to thrive, Anemia, Posterio... |
OMIM:617475 |
Propionic Acidemia |
|
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia |
ORPHA:35 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Talipes equinovarus, Failure to thrive, Low-set, posteriorly rotated ears, Aplasia/H... |
ORPHA:98791 |
Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, female, Splenomegaly, Ambiguous genitalia, male, Accessory spleen, Iris colo... |
OMIM:249000 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... |
OMIM:115200 |
Pendred Syndrome |
|
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... |
ORPHA:705 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Corneal opacity, Limitation of join... |
ORPHA:93476 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Conductive hearing impairment, Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing... |
ORPHA:2502 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Majeed Syndrome |
|
Leukocytosis, Hepatomegaly, Cachexia, Synovitis, Hypochromic microcytic anemia, Failure to thrive... |
ORPHA:77297 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Galactosemia I |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Increased level of galactitol in red blood ce... |
OMIM:230400 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst, Epiphyseal stippling |
OMIM:614870 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Short stature, Splenomegaly |
ORPHA:417 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Abn... |
ORPHA:348 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Small for gestation... |
OMIM:618775 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Microphthalmia, Syndromic 5 |
|
Microcornea, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis, Cataract, Ectopic ... |
OMIM:610125 |
Carpenter Syndrome 1 |
|
Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular fossae, Campto... |
OMIM:201000 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hyperisoleucinemia, Failure to thrive, Hyperammonemia, Elevated plasma branched cha... |
ORPHA:2394 |
Familial Thyroid Dyshormonogenesis |
|
Abnormality of epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Umbilical ... |
ORPHA:95716 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Hyponatremia, Hypercalcemia, Hemobilia, Ascites, Hypokalemia, Weight loss, Hepatic ... |
ORPHA:88673 |
Acute Monoblastic/Monocytic Leukemia |
|
Progressive hearing impairment, Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Oliguria, ... |
ORPHA:514 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma, Hearing impairment, Crypt... |
ORPHA:77298 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating c... |
ORPHA:370 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Anophthalmia, Prominent ear helix, Hypsarrhythmia, Multifocal epileptiform discharges |
ORPHA:411986 |
Blackfan-Diamond Anemia |
|
Hypospadias, Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Reticul... |
ORPHA:124 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver |
ORPHA:79168 |