Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Vomiting, Hepatic fibrosis, Hepatic st... |
OMIM:614480 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Secretory diarrhea, Vomiting |
OMIM:620357 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Edema, Diarrhea, Renal cyst, Proximal tubulopathy, Protein-losing ... |
OMIM:602579 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas... |
ORPHA:3032 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Dehydration, Protracted diarrhea |
OMIM:251850 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Peritoneal eff... |
ORPHA:90362 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... |
OMIM:604213 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... |
OMIM:619445 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea |
OMIM:615863 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro... |
OMIM:619377 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Dysplastic corpus callosum, Global brain atrophy, Microcephaly |
OMIM:618276 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... |
OMIM:209920 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Co... |
OMIM:614602 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Cerebellar atrophy, Proteinuria, No... |
OMIM:212065 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Dehydration, Nephrocalcinosis, Abnormal small intestinal villus morpho... |
ORPHA:2290 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Ileus, Chronic diarrhea, Hepatitis, Increased circulating Ig... |
OMIM:304790 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Reduced natural killer cell activity, Splenomegaly, Secretory diarrhea, Enteroco... |
OMIM:616050 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, High palate, Primary microcephaly |
OMIM:618010 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... |
OMIM:608709 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di... |
OMIM:615710 |
Congenital Disorder Of Glycosylation, Type Id |
|
Cerebellar atrophy, Villous atrophy, Microcephaly, Diarrhea, Cerebral atrophy, High palate, Vomit... |
OMIM:601110 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Increased muscle lipid content, Hepatomegaly |
OMIM:610717 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomeg... |
ORPHA:100025 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:619048 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Achlorhydria, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callos... |
OMIM:252650 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Microcephaly, Ethylmalonic aciduria, Increased level of methylsuccinic acid... |
ORPHA:26792 |
Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption, Reactive hypoglycemia, Diarrhea, Hypoinsulinemia |
OMIM:600955 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,... |
OMIM:557000 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn... |
ORPHA:139507 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Increased cerebral lipofuscin, Hepatic steatosis, Hypoplasia of the corpus callosum, Cerebral atr... |
OMIM:615918 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Aganglionic megacolon, Microcephaly, Hypoplastic anterior limbs of the internal capsule, ... |
ORPHA:171680 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Increased circulating IgE level, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Dysplastic corpus callosum, Renal hypoplasia, High palate, Ve... |
OMIM:616854 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Increased muscle lipid content, High palate, Macrovesicular hepatic steatos... |
OMIM:608836 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Edema, Basal ganglia calcification, Hepatic fibrosis, Micropenis, Hepatic... |
OMIM:619487 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
Netherton Syndrome |
|
Hypernatremic dehydration, Villous atrophy, Angioedema, Increased circulating IgE level, Decrease... |
OMIM:256500 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Vomiting, Hepatic steatosis |
OMIM:617872 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Decreased circulating total IgM, Vomiting, Decreased circulati... |
OMIM:619510 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing e... |
ORPHA:398063 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bilateral basal ganglia lesions, Microcephaly, Hepatic steatosis, Bloody diarrhea |
OMIM:615119 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Fetal pyelectasis, Cerebral atrophy, Macroglossia, Hypoplasia of the ... |
OMIM:616900 |
Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus |
OMIM:615703 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Polyhydramnios, R... |
OMIM:243150 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Hypospadias, Polyhydramnios, Abnormality of the pancreas, Splenome... |
OMIM:222470 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic steatosis, Renal insufficiency, Dicarboxylic aciduria, Cerebral calcificati... |
ORPHA:228308 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Caudate atrophy, Insulin resistance, Hyperinsulinemia, Cerebral atrophy, Cirrhosis,... |
ORPHA:363400 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Splenomegaly, Chronic diarrhea, Decreased circulating total ... |
OMIM:614700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Chronic diarrhea, Elevated circulating alanine aminotransferase concentration, Hepa... |
OMIM:618805 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:619386 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Hypoplasia of the corpus callosum, Hepatic steatosis, Hydr... |
OMIM:615996 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta... |
ORPHA:79303 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Diarrhea, Increased muscle glycogen content, Increased hepatic glycog... |
OMIM:261750 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Cerebellar atrophy, Renal insufficiency, Abnormality o... |
ORPHA:79327 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Increased circulating IgE level, Decreased specific anti-polys... |
OMIM:606367 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Diarrhea, Protein-losing e... |
ORPHA:79319 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Microcephaly, Cho... |
ORPHA:541423 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise... |
OMIM:201475 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular ac... |
OMIM:614922 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, Elevated circula... |
OMIM:619481 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia, Hepatic steatosis, Penile freckling |
ORPHA:210548 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Microcephaly, Spl... |
OMIM:251880 |
Alg9-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Villous atrophy, Hypoplasia of the bladder, Ureteral hypoplasia... |
ORPHA:79328 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Lacticaciduria, Aminoac... |
OMIM:604273 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Decreased liver function, Abnormal cerebral morphology, Dysphagia, Focal... |
ORPHA:70472 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Elevated circulatin... |
OMIM:619573 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Renal hypoplasia, Bloody diarrhea, Abnorm... |
ORPHA:84064 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... |
ORPHA:298 |
Chylomicron Retention Disease |
|
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea |
OMIM:246700 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Polyhyd... |
ORPHA:2059 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Hepatic fibrosis, Hepatic steat... |
ORPHA:280356 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Proteinuria, Dysplastic corpus callosu... |
ORPHA:488627 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Renal insufficiency, Renal cyst, Cerebral atro... |
ORPHA:445038 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Abnormality of the kidney... |
ORPHA:369 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Hypospadias, Oligohydramnios |
OMIM:620135 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Vomiting, Macrovesicular hepatic steatosis |
OMIM:600649 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Increased sarcoplasmic glycogen, Splen... |
ORPHA:264580 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Vesicoureter... |
OMIM:619955 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Nephrotic range proteinuria, Constipation, Gastroesophageal reflux... |
ORPHA:300536 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dysplastic corpus ca... |
OMIM:614924 |
Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Diabetes mellitus, Splenomegaly, Diarrhea, Gastrointestinal eosino... |
OMIM:614162 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... |
OMIM:617093 |
Adrenomyodystrophy |
|
Hepatic steatosis, Abnormality of the urinary system, Abnormal intestine morphology, Megacystis |
ORPHA:977 |
Fanconi Anemia, Complementation Group W |
|
Microcephaly, Renal hypoplasia, Polysplenia, Abnormal periventricular white matter morphology, Du... |
OMIM:617784 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Ubiquitin-positive cerebral incl... |
ORPHA:52430 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatic steatosis, Hepatomegaly, Hypoglycemia, Microcephaly, Microvesicular hep... |
OMIM:619418 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly... |
OMIM:232500 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Microcephaly, Bilateral renal hypoplas... |
OMIM:243605 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, High, narrow palate, Diarrhea, C... |
ORPHA:79322 |
Monosomy 13Q34 |
|
Microcephaly, Insulin resistance, Fetal pyelectasis, Hematochezia, Agenesis of corpus callosum, H... |
ORPHA:96168 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Microcephaly, Periventricular cysts, Hepatosplenomegaly, Hepatic s... |
OMIM:619013 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Hepatic steatosis, Viral hepatitis, Diabetes mellitus, Portal infl... |
ORPHA:101330 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Gastroesophage... |
ORPHA:2524 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Renal agenesis, Maternal diabetes, Microcephaly, Cleft palate, Agenesis of c... |
ORPHA:280200 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis |
OMIM:613877 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Hyperglycemia, Secondary microcephaly, Periventricular white matter h... |
OMIM:619737 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Diarrhea, Vomiting, Steat... |
ORPHA:71 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Dehydration,... |
OMIM:615237 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Diarrhea, Esophageal carcinoma, Functional abnormality of the bladder, Enterocol... |
ORPHA:391487 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Hy... |
OMIM:619111 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Very long chain fatty acid accum... |
OMIM:261515 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agen... |
OMIM:614833 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... |
OMIM:616433 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, H... |
ORPHA:93111 |
Wilson Disease |
|
Acute hepatic failure, Edema, Pedal edema, Aminoaciduria, Vomiting, Hepatic steatosis, Hepatomega... |
OMIM:277900 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... |
OMIM:614921 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... |
OMIM:619079 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Intestinal malrotation, Dysplastic corpus callosum, Constipation, Pachygyria... |
ORPHA:2328 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Recurrent urinary tract infections, Hypospadias, Microcephaly, Focal polymicr... |
OMIM:619103 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... |
OMIM:614582 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Hypodysplasia of the corpus callosum, ... |
OMIM:257300 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Hypoglycemic seizures, Myoglo... |
OMIM:231530 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... |
ORPHA:2088 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Micropenis, Polyhydramnios, Hepatomegaly |
OMIM:618810 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, High palate, Dysphagia |
OMIM:620001 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Hydrops fetalis, Polyhydramnios, Intestinal atresia |
ORPHA:3405 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Diarrhea, Hematoc... |
ORPHA:263665 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Hypospadias, Unilateral renal agenesis, Microcephaly, Pachygyria, Cortical dy... |
ORPHA:468631 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Diabetes mellitus, Hepatic steatosis |
OMIM:615980 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Microcephaly, Hepatic melanin-like lysosomal... |
OMIM:208085 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Splenomegaly, Diarrhea, Hepatitis, Decreased circulat... |
OMIM:619381 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Microcephaly, Microvesicular hepatic steatosis, Cerebral atrophy, Cerebral co... |
OMIM:616672 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Polyhydramnios, Duodenal atresia |
ORPHA:1203 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Protein-losing enteropathy, Decreased circul... |
OMIM:613502 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Microcephaly, Pachygyria, Agenesis of ... |
ORPHA:452 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Cerebral calcification, Proteinuria, Microcephaly, Splenomegaly, Macroglossia, Neph... |
OMIM:617303 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Chronic co... |
OMIM:619179 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Diarrhea, Cholestasis, Protein-losing enteropathy, Decreased liver function,... |
OMIM:608104 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Hepatomegaly, Atrophic gastritis, Intracerebral periventricular calcification... |
OMIM:615846 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Diarrhea, Enuresis, Hepatic fibrosis, Vomiting, Hepa... |
ORPHA:247585 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, H... |
OMIM:229850 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Diarrhea, Fasting hy... |
ORPHA:71212 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pyloric stenosis, Insulin resistance, Ileus, Hyperin... |
OMIM:613327 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... |
ORPHA:79083 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Insulin resistance, Elevated circ... |
OMIM:615381 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Cerebellar atrophy, Hypoglycemia, Protein-losing enteropathy, Atro... |
ORPHA:95428 |
Pearson Syndrome |
|
Hydrops fetalis, Renal cyst, Dehydration, Abnormality of the liver, Hepatic steatosis, Hepatomega... |
ORPHA:699 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Macroglossia, Cirrhosis, H... |
ORPHA:528 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steato... |
ORPHA:2348 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Polyhydramnios, Microcephaly, Dehydration, Cerebral atrophy, 3-Methylglutacon... |
OMIM:616271 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Diarrhea, Steatorrhea, Hematoche... |
ORPHA:2070 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Cerebral calcification, Hypogl... |
OMIM:613658 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... |
OMIM:300972 |
Perlman Syndrome |
|
Distal ileal atresia, Nephrogenic rest, Hypoglycemia, Renal hamartoma, Nephroblastoma, Edema, Pol... |
OMIM:267000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep... |
ORPHA:228305 |
Cerebrofacioarticular Syndrome |
|
Anal stenosis, Hypospadias, Lymphedema, Microcephaly, Dysplastic corpus callosum, Renal hypoplasi... |
ORPHA:314679 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Polyhydramnios, Celiac disease, Dysplastic corpus callosum, Increased nuchal translucency, Perive... |
ORPHA:544488 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Cirrhosis,... |
OMIM:601847 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Gastrointestinal dysmotility, ... |
OMIM:270400 |
Esophageal Atresia |
|
Barrett esophagus, Renal agenesis, Intestinal malrotation, Maternal diabetes, Polyhydramnios, Pyl... |
ORPHA:1199 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Microcephaly, Gastrointestinal dysmotility, Thick corpus callosum, Hyperi... |
OMIM:617798 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Diarrhea, ... |
ORPHA:348 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Hypospadias, Microcephaly, Insulin-resis... |
ORPHA:2959 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... |
OMIM:610198 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Hepatomegaly |
OMIM:619423 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cerebral atrophy, Cholestasis, Porta... |
OMIM:614300 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Cerebral calcification, Pachygyria, Polymicrogyria, Red-brown urine, Stage 5 chroni... |
ORPHA:157 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral white matter atrophy, Microcephaly, Hepatic... |
ORPHA:369840 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, ... |
ORPHA:2308 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Increased nuchal translucency, Nephroblastomatosis, Cleft palate, Horseshoe kid... |
OMIM:608022 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... |
OMIM:243910 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Neurofibrillary tangles, Splenomegal... |
OMIM:257220 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Absent septum pellucidum... |
OMIM:300868 |
Cimdag Syndrome |
|
Hepatomegaly, Microcephaly, Microvesicular hepatic steatosis, Cerebral atrophy, Pontocerebellar a... |
OMIM:619273 |
Alg6-Cdg |
|
Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Jaundice |
ORPHA:79320 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Secon... |
OMIM:616263 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Gastroesophageal reflux, Microgastria, Agenesis of corpus callosum, He... |
ORPHA:2538 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... |
OMIM:300048 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Hepatic steatos... |
OMIM:212138 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Ketonur... |
ORPHA:20 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal basal ganglia MRI signal intensity, Hypogly... |
ORPHA:17 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Microcephaly, Esophageal atresia, Submucous cleft hard... |
OMIM:619227 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypoglycemia, Proteinuria, Diarrhea, Hepatocellular adenoma, Enterocolitis, Hypogly... |
ORPHA:79259 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Polyhydramnios, Microcephaly, Oligohydramnios, Renal cyst... |
ORPHA:464311 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Aciduria,... |
OMIM:203700 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Hypoglycemia, Acute hepatic steatosis, Vomiting, Elevated urinary 3-methylcrotonylglyc... |
OMIM:210200 |
Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Microcephaly, Renal hypoplasia, Microphallus, Bone marrow hypocellularity, Vesico... |
OMIM:603467 |
Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Vomiting, Intestinal lymphedema, Increased stool alpha1-a... |
ORPHA:90363 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Microcephaly, E... |
ORPHA:391641 |
Miller-Dieker Lissencephaly Syndrome |
|
Polyhydramnios, Microcephaly, Pachygyria, Cleft palate, Lissencephaly, Hypoplasia of the corpus c... |
OMIM:247200 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ... |
OMIM:211600 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Microcephaly, Cleft palate, Hypoplasia of the corpus callosum, Hepatic steatosis |
ORPHA:254346 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Bilateral basal ganglia lesions, Hypoplasia of penis, Microvesicul... |
ORPHA:66634 |
Vascular Hyalinosis |
|
Cerebral calcification, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Fanconi Anemia, Complementation Group B |
|
Renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Hypoplasia of the corpus callosum,... |
OMIM:300514 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Leukoencephalopathy, Renal tubular dysfunction, Ami... |
OMIM:220110 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Polyhydramnios, Microcephaly, Asple... |
ORPHA:99776 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Insul... |
OMIM:203800 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Microcephaly, Pyloric stenosis, Oligohydramnios, Renal cy... |
ORPHA:464306 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting the br... |
OMIM:614946 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Renal fibrosis, Vomiting, Decreased glomerular filtration rate, Hep... |
ORPHA:470 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Diarrhea, Hyperinsulinemia, Renal Fanco... |
ORPHA:263455 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, Cleft palate... |
OMIM:235255 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Transient aminoaciduria... |
OMIM:229600 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Polyhydramnios, Pancreatitis... |
OMIM:155310 |
Feingold Syndrome |
|
Microcephaly, Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin-resistant diabetes mellitus, Insulin resis... |
ORPHA:79086 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Methioninuria, High palate, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Renal salt wasting, Hypersplenism,... |
ORPHA:275761 |
Distal Deletion 12Q |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Microcephaly, High, narr... |
ORPHA:96149 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis, Hepatomegaly |
ORPHA:435660 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Hypoglycemia, 3-Methylglutaconic aciduria, Bil... |
OMIM:618329 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Microcephaly, Hypoplastic anterior commissure, Renal cyst, Furrowed tongue, Gastroes... |
OMIM:616975 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Polyhydramnios, Microcephaly, Increased nucha... |
ORPHA:1052 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Abnormalit... |
ORPHA:141127 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Microcephaly, Cerebral atrophy, ... |
OMIM:615356 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Micr... |
OMIM:617156 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Polysplenia, Duodenal atresia |
OMIM:619608 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Hypoglycemic seizures, Increased hepatic glycogen content, Neonatal hypo... |
ORPHA:293964 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Hypoglycemia, Cholangitis, Microvesicular hepa... |
OMIM:124000 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Microcephaly, Submucous cleft hard palate, Cleft palate, Colpocephaly, Gas... |
OMIM:301043 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis, Microcephaly |
OMIM:190440 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morpholog... |
ORPHA:1655 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Microcephaly, Pyl... |
ORPHA:1606 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Polyhydramnios, Nonimmune hydrops fetalis, Aspl... |
OMIM:265380 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Polyhydramnios, Fetal ascites, Neurofibrillary tangles, Splenomegaly, Jaundice, Dys... |
OMIM:607625 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:456312 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, Vomiting, Elev... |
OMIM:619991 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy, Senile plaques |
OMIM:608907 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Polyhydramnios, Pericardial effusion, Secretory diarrhea, Decreased circulating antibod... |
OMIM:618183 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u... |
ORPHA:913 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Splenomegaly, Hypercalciuria, Lacunar stroke, Macroglossia, Mucopol... |
OMIM:618440 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Central nervous system degen... |
ORPHA:98907 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Polyhydramnios, Lymphedema |
OMIM:618154 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Polyhydramnios, Microcephaly, Asplenia, Esophageal atresia, Ga... |
OMIM:164280 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Senile plaques |
OMIM:605055 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse, Perica... |
OMIM:235510 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Renal hypoplasi... |
OMIM:611376 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Serkal Syndrome |
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Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Malrotation of... |
ORPHA:139466 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ... |
ORPHA:2092 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde... |
ORPHA:512 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Cat Eye Syndrome |
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Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary at... |
OMIM:115470 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lewy bodies, Neurofibrillary tangles, Lateral ventricle dilatation, Neuronal loss in central nerv... |
OMIM:607485 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Jejunal atresia, Hypospadias, Ileal atresia, Absent septum pellucidum, Dysplastic corpus callosum... |
OMIM:618820 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic diarrhea, Hepatic fibrosis, Vomiting, Cirrho... |
ORPHA:14 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Front... |
ORPHA:100070 |
Scedosporiosis |
|
Diabetes mellitus, Pleural empyema, Abnormal jejunum morphology, Abnormal renal morphology |
ORPHA:449280 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Renal steatosis, Hepatic steatosis |
ORPHA:412 |
Zttk Syndrome |
|
Absent gallbladder, Polyuria, Unilateral renal agenesis, Dysplastic corpus callosum, Submucous cl... |
OMIM:617140 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Nephrolithiasis, Glucose intolerance, Renal cell carcinoma, Hep... |
ORPHA:189427 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Polyhydramnios, Posteriorly placed anus, Asplenia, Biliary atresia,... |
OMIM:306955 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Ketonuria, Increased ur... |
ORPHA:247598 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypoglycemia, Hypospadias, Increased hepatocellular lipid droplets, Microcephaly, Micr... |
OMIM:220111 |
White-Kernohan Syndrome |
|
Hydroureter, Dysplastic corpus callosum, Horseshoe kidney, Anteriorly placed anus, Gastroesophage... |
OMIM:619426 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles, Senile plaques |
DECIPHER:48 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly,... |
OMIM:608594 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatosplenomegaly, Hepatocellular necr... |
OMIM:618278 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Celiac disease, H... |
ORPHA:99226 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Microcephaly, Renal hypoplasia, Micropenis, Hepatic st... |
OMIM:619321 |
Heterotaxy, Visceral, 5, Autosomal |
|
Cerebellar atrophy, Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Asplenia, Re... |
OMIM:270100 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... |
ORPHA:444490 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Microcephaly, Gastroesophageal reflux, Constipation, High palate, Hepatic s... |
OMIM:619934 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastrointestinal dysmotility, Simplified gyral pattern, Gastroesophageal reflux, Decreased circul... |
ORPHA:500150 |
Alzheimer Disease 3 |
|
Neurofibrillary tangles, Cerebral cortical atrophy, Dysphagia |
OMIM:607822 |
Bloom Syndrome |
|
Microcephaly, Decreased circulating total IgM, Type II diabetes mellitus, Decreased circulating I... |
OMIM:210900 |
Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Basal ganglia calcification, Cerebral calcification, Microcephaly |
OMIM:617281 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Senile plaques, Cerebral amyloid angiopathy |
OMIM:606889 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Nodular regenerative hyperplasia... |
ORPHA:404454 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Hyperinsulinemia, ... |
OMIM:269700 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... |
OMIM:151660 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Microcephaly, Dysplastic corpus callosum, Cleft palate, Anteriorly placed anus, Chor... |
OMIM:151050 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Hepatic failure, Mecke... |
OMIM:311900 |
Plasminogen Deficiency, Type I |
|
Nephritis, Duodenal ulcer, Nephrolithiasis |
OMIM:217090 |
Ogden Syndrome |
|
Global glomerulosclerosis, Pulmonary edema, Maternal diabetes, Lymphedema, Microcephaly, Microves... |
OMIM:300855 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Dysphagia, Lewy... |
OMIM:610217 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia |
ORPHA:3004 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypoketotic hypoglycemia |
ORPHA:746 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Microcephaly, Duodenal atresia |
OMIM:614114 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Renal cyst, Gastric adenocarcinoma |
OMIM:617100 |
Zygomycosis |
|
Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nephritis, Nausea, Hepa... |
ORPHA:73263 |
Trisomy 8P |
|
Microcephaly, Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Micropenis, Nephrocalc... |
ORPHA:264450 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Diets-Jongmans Syndrome |
|
Hypospadias, Thick corpus callosum, Polyhydramnios, Duodenal atresia |
OMIM:618846 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu... |
ORPHA:98908 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal renal morphology... |
ORPHA:1666 |
Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Microcephaly, Asplenia, Abdominal situs inversus, Polysplenia, Agenesis o... |
OMIM:605376 |
Iniencephaly |
|
Renal agenesis, Polyhydramnios, Anencephaly, Lissencephaly, Anal atresia, Duodenal atresia |
ORPHA:63259 |
Congenital Disorder Of Deglycosylation 2 |
|
Hamartoma of tongue, Partial agenesis of the corpus callosum, Macroglossia, High palate, Hypothal... |
OMIM:619775 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Palpebral edema, Microcephaly, Hig... |
OMIM:619475 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Duodenal ulcer, Intestinal malrotation, Hypospadias, Ectopic kidney, Microcephaly, P... |
OMIM:135900 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Adenomatous co... |
ORPHA:733 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Duodenal ulcer, Peptic ulcer, Hematemesis, Diarrhea, Insulinoma, Nephro... |
ORPHA:652 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... |
ORPHA:79665 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Multicystic kidney dysplasia, Hypospadias, Renal insufficie... |
OMIM:107480 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Renal insufficiency, Portal hypertension... |
ORPHA:797 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Glucose intolerance, Focal segmental gl... |
OMIM:619127 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Portal hypertension, Unilateral renal agenesis, Fetal ascites, Esophageal vari... |
OMIM:619503 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Abnormality of the kidney, Adenomatous colonic polyposis, Desmoid tumors, Int... |
ORPHA:261584 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... |
ORPHA:247806 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Impaired T cell function, Unilateral renal agenesis, Microc... |
OMIM:188400 |
Supranuclear Palsy, Progressive, 1 |
|
Neuronal loss in basal ganglia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degene... |
OMIM:601104 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy |
OMIM:616840 |
Genitopatellar Syndrome |
|
Anal stenosis, Multicystic kidney dysplasia, Polyhydramnios, Microcephaly, Malrotation of small b... |
OMIM:606170 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Atypical Werner Syndrome |
|
Renal neoplasm, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia,... |
ORPHA:79474 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Edema of the dorsum of feet, Edema of the dorsum of hand... |
OMIM:274000 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes |
OMIM:606688 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Polymicrogyria, Wide penis, Vesicoureteral reflu... |
ORPHA:3455 |
Aromatase Deficiency |
|
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus |
ORPHA:91 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... |
OMIM:175100 |
Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Aganglionic megacolon, Hypospadias, Recurrent urinary tract inf... |
ORPHA:84 |
Tarp Syndrome |
|
Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Hydro... |
ORPHA:2886 |
Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Supranuclear Palsy, Progressive, 2 |
|
Neuronal loss in basal ganglia, Neurofibrillary tangles, Granulovacuolar degeneration, Dysphagia,... |
OMIM:609454 |
Charge Syndrome |
|
Anal stenosis, Renal agenesis, Polyhydramnios, Microcephaly, Esophageal atresia, Tracheoesophagea... |
OMIM:214800 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Neurofibrillary tangles, Cerebral cortical atrophy |
ORPHA:1020 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Polyhydramnios, Phimosis, Microcephaly, Dysplastic corpus callosum, High, narrow pal... |
OMIM:613406 |
Spondyloocular Syndrome |
|
Duodenal ulcer, Lymphedema |
OMIM:605822 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Diabetes ... |
ORPHA:811 |
Gerstmann-Straussler Disease |
|
Neurofibrillary tangles, Cerebellar atrophy |
OMIM:137440 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dysplastic corpus callosum, High, narrow palate, Thick corpus callosum, Gastroesophageal reflux, ... |
OMIM:300967 |
Adult-Onset Dystonia-Parkinsonism |
|
Neurofibrillary tangles, Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia... |
ORPHA:199351 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Hypospadias, Maternal diabetes, Horseshoe kidney, Ante... |
ORPHA:1708 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hepatomegaly, Hypospadias, Intestinal malrotation, Nephroblasto... |
OMIM:312870 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Gastroesophageal reflux, Hepatic fib... |
ORPHA:64 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Abnormal cortical gyration, Renal hypoplasia/ap... |
OMIM:219000 |
Hypoplasminogenemia |
|
Duodenal ulcer, Nephrolithiasis |
ORPHA:722 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Absent septum pellucidum, Microcephaly, Malrotation of small bowel... |
OMIM:194190 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, High, narrow palate, Pseudobulbar paralysis, Gastroesophageal reflux,... |
ORPHA:466791 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis, Decreased circulating antibody level |
ORPHA:51636 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Proteinuria, Impaired neutrophil chemotaxis, Lymphedema, Pericardi... |
ORPHA:79318 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrome, High palate, Constipatio... |
OMIM:601776 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Renal artery stenosis, Renal steatosis |
ORPHA:391665 |