Gene: Hlx MGI:96109

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

H2.0-like homeobox

Synonyms:

Hlx1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hlx mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Hlx (0 diseases)
Human diseases predicted to be associated with Hlx (746 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hlx by phenotypic similarity.

Disease	Matching phenotypes	Source
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Jaundice, Hepatic failure, Cirrhosis, Cholestasis, Elevated hep...	OMIM:617156
Nuchal Bleb, Familial	Hydrops fetalis, Stillbirth, Fetal cystic hygroma	OMIM:257350
Mitchell-Riley Syndrome	Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole...	OMIM:615710
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Martinez-Frias Syndrome	Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic...	OMIM:601346
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis...	OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa...	OMIM:619868
Retinohepatoendocrinologic Syndrome	Pallor, Optic disc pallor, Degenerative liver disease, Elevated circulating creatine kinase conce...	OMIM:268040
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver	OMIM:206100
Biliary Atresia, Extrahepatic	Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary...	OMIM:210500
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Cleft palate, Absent gallbladder, Pulmonary hypoplasia, Omphaloc...	ORPHA:1335
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia	OMIM:300752
Fetal Parvovirus Syndrome	Hydrops fetalis, Intrauterine growth retardation, Increased nuchal translucency, Ascites	ORPHA:295
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse...	ORPHA:210122
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Meckel Syndrome, Type 6	Cleft palate, Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Pulmonary hypoplasia, Bilobed ...	OMIM:612284
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia, Edema	OMIM:600995
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Splenomegaly, Pallor, Preeclampsia, Hydrops fetalis, Polyhydramnios, Oligohydramnios	ORPHA:163596
Transaldolase Deficiency	Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Edema, Premature skin wrinkling, Abnormal circula...	ORPHA:101028
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Congenital Lethal Erythroderma	Dry skin, Hypoalbuminemia, Death in infancy	ORPHA:1954
Erythrocytosis, Familial, 8	Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Hydrops Fetalis, Nonimmune	Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:236750
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Edema	OMIM:615573
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypoalbu...	OMIM:616000
Erythroderma, Lethal Congenital	Hypoalbuminemia, Death in infancy	OMIM:227090
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor, Hepatomegaly, Splenomegaly	ORPHA:46532
Mitochondrial Complex I Deficiency, Nuclear Type 35	Hyperprolinemia, Nonimmune hydrops fetalis, Neonatal death, Hyperalaninemia, Intrauterine growth ...	OMIM:619003
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Intestinal mal...	OMIM:601163
Matthew-Wood Syndrome	Annular pancreas, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormal s...	ORPHA:2470
Cardiomyopathy, Familial Restrictive, 6	Hydrops fetalis, Hepatomegaly, Death in infancy, Ascites	OMIM:619433
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:613124
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Nonimmune hydrops fetalis, Death in infancy, Intrauterine growth reta...	OMIM:608540
Microgastria-Limb Reduction Defects Association	Gastroesophageal reflux, Intestinal malrotation, Splenogonadal fusion, Biliary tract abnormality,...	OMIM:156810
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric...	OMIM:618773
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Edema	OMIM:603278
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Nonimmune hydrops fetalis, Cholecys...	OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ...	OMIM:235700
Glycogen Storage Disease Vii	Cholelithiasis, Increased muscle glycogen content, Reduced erythrocyte 2,3-diphosphoglycerate con...	OMIM:232800
Pancreatic Colipase Deficiency	Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso...	ORPHA:309108
Lymphatic Malformation 12	Fetal pericardial effusion, Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Poly...	OMIM:620014
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Retinitis Pigmentosa 42	Pallor	OMIM:612943
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis, Death in infancy	OMIM:619340
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Isolated Biliary Atresia	Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis...	ORPHA:30391
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Elevated circulating creatin...	OMIM:608104
Cholestasis, Progressive Familial Intrahepatic, 5	Hyperammonemia, Elevated alpha-fetoprotein, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis...	OMIM:617049
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa...	OMIM:613470
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Edema	OMIM:614131
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal neuron branching, Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, He...	ORPHA:367
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Inguinal hernia, Colon perforation, Biliary atresia, Intestinal ...	OMIM:600001
Congenital Diaphragmatic Hernia	Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia...	ORPHA:2140
Optic Atrophy 9	Optic atrophy, Pallor	OMIM:616289
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Jaundice	OMIM:312500
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hydrops fetalis, Polyhydramnios, Hypercalcemia, Ascites, Premature birth	ORPHA:2123
Peripheral Cone Dystrophy	Optic atrophy, Optic disc pallor, Pallor	OMIM:609021
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An...	ORPHA:848
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Microcytic anemia, Decreased liver function	ORPHA:79278
Congenital Analbuminemia	Hyperlipidemia, Miscarriage, Facial edema, Hypoproteinemia, Increased alpha-globulin, Pedal edema...	ORPHA:86816
Congenital Enterocyte Heparan Sulfate Deficiency	Dehydration, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Edema, Abnormal ...	ORPHA:103910
Microphthalmia, Syndromic 12	Cryptorchidism, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:615524
Dysplastic Cortical Hyperostosis	Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly	ORPHA:2204
8p23.1 deletion syndrome	Cryptorchidism, Congenital diaphragmatic hernia	DECIPHER:39
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti...	ORPHA:3202
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Axial Mesodermal Dysplasia Spectrum	Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic hernia, Morphological abnormality...	ORPHA:1834
Spherocytosis, Type 1	Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:182900
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Gallbladder Disease 1	Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ...	OMIM:600803
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia	ORPHA:972
Achondrogenesis, Type Ib	Hydrops fetalis, Polyhydramnios, Edema, Stillbirth, Breech presentation	OMIM:600972
Chondrodysplasia, Blomstrand Type	Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth	OMIM:215045
Cyanosis, Transient Neonatal	Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice	OMIM:613977
Glycogen Storage Disease Iv	Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Edema, Portal hy...	OMIM:232500
Fetal Gaucher Disease	Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of the spleen, Neonatal death, Death in ...	ORPHA:85212
Retinitis Pigmentosa 60	Pallor	OMIM:613983
Glycogen Storage Disease Xii	Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Increased variabilit...	OMIM:611881
Infantile Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Death in childhood, Hydrops fetalis, Conjugated hyperbilirubinemia, A...	OMIM:269920
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas...	OMIM:194380
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Hydrops fetalis, Unconjugated hyperbi...	ORPHA:766
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Edema	OMIM:614196
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hemolytic anemia, Hepatic failure	OMIM:177000
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele...	ORPHA:65682
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Hepatic failur...	OMIM:251880
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele	ORPHA:2141
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Elevated circulating creatine kinase concentration, Nonimmune hydrops f...	OMIM:618835
Congenital Enterovirus Infection	Hyperammonemia, Hepatic failure, Hydrops fetalis, Cholestasis, Polyhydramnios, Pericardial effusi...	ORPHA:292
Beta-Thalassemia Intermedia	Cholelithiasis, Hypoparathyroidism, Decreased liver function, Anemia of inadequate production, He...	ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Elevated circulating creatine kinase concentration, Nonimmune hydrops f...	OMIM:618839
Hepatoportal Sclerosis	Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P...	ORPHA:64743
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Pallor, Hepatomegaly, Splenomegaly	OMIM:615234
Retinitis Pigmentosa 70	Pallor, Optic disc pallor	OMIM:615922
Mpi-Cdg	Decreased liver function, Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Edema, Portal hyperten...	ORPHA:79319
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly...	ORPHA:288
Neuronal Intestinal Pseudoobstruction	Malabsorption, Congenital diaphragmatic hernia	ORPHA:99811
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Fat malabsorption, Jaundice, Intrahepatic ...	OMIM:211600
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Cirrhosis, Death in childhood, Hepatic fibrosis, Hypoalbuminemia, ...	OMIM:602579
Indomethacin Embryofetopathy	Oligohydramnios, Hydrops fetalis, Premature birth	ORPHA:1909
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Edema	OMIM:610725
Auditory Neuropathy And Optic Atrophy	Optic atrophy, Pallor	OMIM:617717
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Cutis Laxa-Marfanoid Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Emphysema	ORPHA:171719
Leishmaniasis	Hepatomegaly, Splenomegaly, Pallor, Elevated hepatic transaminase, Hypoalbuminemia, Skin ulcer	ORPHA:507
Nphp3-Related Meckel-Like Syndrome	Abnormal biliary tract morphology, Intestinal malrotation, Abnormality of the pancreas, Pulmonary...	ORPHA:3032
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Oligohy...	OMIM:619013
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Periportal fibrosis, Abnormal lung lobation...	OMIM:263210
Hydrops Fetalis	Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Twin-to-twin transfusion, Lymphedema, Inc...	ORPHA:1041
Fibronectin Glomerulopathy	Pedal edema, Hypoalbuminemia	ORPHA:84090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cryptorchidism, Abnormality of the pulmonary artery, Congenital diaphragmatic hernia, Cleft palate	ORPHA:1166
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Liver Failure, Infantile, Transient	Hepatomegaly, Hyperbilirubinemia, Microvesicular hepatic steatosis, Acute hepatic failure, Macrov...	OMIM:613070
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Exocrine pancreatic insufficiency, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bi...	ORPHA:2255
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Anal atresia, Cleft palate, Esophageal diverticulum, Neonatal death, Hamartoma of tongue, Absent ...	OMIM:617925
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Edema, Hypoalbuminemia, Hypoproteinemia	OMIM:600351
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:261102
Dextrocardia	Intestinal malrotation, Abnormality of the spleen, Abnormal lung lobation, Pancreatic hypoplasia,...	ORPHA:1666
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas	ORPHA:438274
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Elevated hepatic transaminase, Pallor, Splenomegaly	ORPHA:75563
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Emphysema	OMIM:614100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic...	OMIM:610199
Pancreatic Agenesis 2	Pancreatic hypoplasia, Steatorrhea	OMIM:615935
Retinitis Pigmentosa 27	Pallor, Macular edema	OMIM:613750
Alg8-Cdg	Cutis laxa, Premature skin wrinkling, Oligohydramnios, Hydrops fetalis, Optic atrophy, Elevated h...	ORPHA:79325
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hydrops fetalis, Fetal akinesia sequence, Death in infancy	OMIM:618815
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites	ORPHA:87876
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ...	ORPHA:822
Congenital Pulmonary Lymphangiectasia	Chylopericardium, Hepatomegaly, Splenomegaly, Hydrops fetalis, Pleural effusion, Ascites	ORPHA:2414
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Cryptorchidism, Cleft palate, Absent gallbladder, Anemia, Thrombocytopenia	ORPHA:163979
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Congenital diaphragmatic hernia, Morphological abnormality of the gastro...	ORPHA:2847
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple...	OMIM:616860
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Edema	OMIM:615244
Tonne-Kalscheuer Syndrome	Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Decreased te...	OMIM:300978
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Macrocytic anemia,...	ORPHA:811
Triosephosphate Isomerase Deficiency	Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, Macrocytic anemia, Hemolytic anem...	OMIM:615512
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cleft palate, Hyposegmentation of neutrophil nuclei, Pulmonary h...	ORPHA:250999
Free Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites	ORPHA:834
Pancreatic Agenesis-Holoprosencephaly Syndrome	High palate, Pancreatic aplasia, Absent gallbladder	ORPHA:556955
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration...	ORPHA:88618
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Trisomy 10P	Flexion contracture of thumb, High palate, Gastroesophageal reflux, Camptodactyly, Absent gallbla...	ORPHA:171929
Alpha-Heavy Chain Disease	Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia	ORPHA:100025
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Cholelithiasis, Camptodactyly of finger, Giant cell hepatitis, Jaundice	OMIM:214980
Caroli Disease	Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta...	ORPHA:53035
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ...	ORPHA:247585
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Distal Trisomy 5Q	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Hernia	ORPHA:96097
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Anal atresia, Narrow palate, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Ab...	ORPHA:2063
Autoimmune Hemolytic Anemia, Cold Type	Pallor, Splenomegaly	ORPHA:228312
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Sickle Cell Anemia	Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom...	OMIM:603903
Alg6-Cdg	Decreased LDL cholesterol concentration, Jaundice, Hypoalbuminemia, Abnormality of the liver	ORPHA:79320
Vacterl/Vater Association	Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Abnormali...	ORPHA:887
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Optic Atrophy 1	Optic atrophy, Pallor	OMIM:165500
Cholestasis, Progressive Familial Intrahepatic, 3	Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic...	OMIM:602347
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Omphalocele	OMIM:613630
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Schisis Association	Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Omphalocele	ORPHA:63862
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morphology, T...	OMIM:607616
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia	OMIM:246700
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Hepatic failure, Orthostatic hypotension, Cirrhosis, He...	ORPHA:186
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Small hypothenar eminence, Contractur...	ORPHA:96092
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Congenital diaphragmatic hernia, Cleft palate, Bifid uvula, Macrocytic anemia	OMIM:606164
Trisomy 8P	Annular pancreas, Multiple joint contractures, Peripheral pulmonary artery stenosis, Cleft palate...	ORPHA:264450
Acrocallosal Syndrome	Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia	ORPHA:36
Isolated Anencephaly	Thymus hyperplasia, Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Ulnar Agenesis And Endocardial Fibroelastosis	Hydrops fetalis, Neonatal death	OMIM:276822
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Cleft palate, Abnormality of the gallbladder, Abnormality of mes...	ORPHA:2075
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Hepatosplenomegaly, Hepatic steatosis, Dry skin, Optic atrophy, Elevated hepatic tr...	OMIM:619487
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor...	ORPHA:247598
Primary Lateral Sclerosis, Juvenile	Pallor, Abnormal upper motor neuron morphology	OMIM:606353
Xp22.13P22.2 Duplication Syndrome	High palate, Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Umbil...	ORPHA:284180
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles...	OMIM:267700
Cholestasis, Benign Recurrent Intrahepatic, 2	Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:605479
Trimethylaminuria	Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly	OMIM:602079
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Facial palsy, Anemia, Thrombocytopenia	OMIM:615085
Serkal Syndrome	Malrotation of small bowel, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:139466
Non-Syndromic Posterior Hypospadias	Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Omphalocele, Cryptorchidism, Esophag...	ORPHA:95706
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Hypoproteinemia, Hypoalbuminemia, Edema, Generalized edema, Ascites	OMIM:226300
Combined Oxidative Phosphorylation Deficiency 41	Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Intrauterine growt...	OMIM:618838
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami...	ORPHA:567983
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia	OMIM:205950
Diamond-Blackfan Anemia 10	Steroid-responsive anemia, Congenital diaphragmatic hernia, Cleft palate, Morgagni diaphragmatic ...	OMIM:613309
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice, Myopathy	ORPHA:33574
Peutz-Jeghers Syndrome	Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, S...	ORPHA:2869
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia	OMIM:613313
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Per...	ORPHA:567548
Donnai-Barrow Syndrome	Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia, Omphalocele	ORPHA:2143
Wolcott-Rallison Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Acute hepati...	ORPHA:1667
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Periorbital edema, Hypoalbuminemia, Edema	ORPHA:656
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Umbilical hernia	ORPHA:380
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis	OMIM:619398
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease...	ORPHA:540
Achondrogenesis	Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis	ORPHA:932
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Anemia, Reduced subcutaneous adipose tissue	OMIM:609069
Zttk Syndrome	High palate, Intestinal atresia, Flexion contracture, Bifid uvula, Unilateral lung agenesis, Abse...	OMIM:617140
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Mitochondrial Trifunctional Protein Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k...	OMIM:609015
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Steinfeld Syndrome	Absent gallbladder, Median cleft lip and palate, Bifid uvula	OMIM:184705
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Pallor, Maternal d...	ORPHA:276580
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract in...	OMIM:613101
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Cleft palate	OMIM:300712
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Hepatomegaly, Joint contracture of the hand, Aplasia/Hypoplasi...	ORPHA:456312
Idiopathic Neonatal Atrial Flutter	Hydrops fetalis, Maternal diabetes, Fetal distress	ORPHA:45452
Leber Congenital Amaurosis 14	Pallor, Optic disc pallor	OMIM:613341
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci...	ORPHA:158061
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor, Increased C-peptide level, Maternal diabetes, Decreased circulating free fa...	ORPHA:324575
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion	OMIM:617300
Nephrotic Syndrome, Type 1	Edema, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Cleft palate, Inguinal hernia, Abnormality of the abdominal orga...	ORPHA:2409
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic atrophy, Optic disc pallor, Pallor	OMIM:612989
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Pallor, Focal panc...	ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Pallor, Decreased ...	ORPHA:276556
Achondrogenesis, Type Ii	Polyhydramnios, Hydrops fetalis, Stillbirth, Edema	OMIM:200610
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatic failur...	OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato...	OMIM:603553
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:616050
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Hypoproteinemia, Hypoalbuminemia, Edema, Pleur...	ORPHA:90362
Achondrogenesis Type 1B	Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis	ORPHA:93298
Mulibrey Nanism	Hydrops fetalis, Intrauterine growth retardation, Hepatomegaly, Ascites	OMIM:253250
Immunodeficiency 43	Hypoalbuminemia, Hypoproteinemia	OMIM:241600
Emanuel Syndrome	High palate, Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic hernia, Inguinal her...	OMIM:609029
Galloway-Mowat Syndrome 6	Intrauterine growth retardation, Hypoalbuminemia	OMIM:618347
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice	OMIM:603552
Breath-Holding Spells	Pallor	OMIM:607578
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Irida Syndrome	Pallor, Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Minicore Myopathy With External Ophthalmoplegia	Polyhydramnios, Facial palsy, Hydrops fetalis, Decreased fetal movement	OMIM:255320
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, S...	OMIM:612714
Achondrogenesis Type 1A	Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis	ORPHA:93299
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Dermatitis, Atopic	Pallor, Dry skin, Facial erythema	OMIM:603165
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated hepatic transaminase, Hypoalbuminemia, Decreased circulating copper concentra...	OMIM:242150
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Tetrasomy 9P	High palate, Cleft palate, Biliary atresia, Myositis, Bifid uvula, Amelogenesis imperfecta, Absen...	ORPHA:3310
Neuraminidase Deficiency	Facial edema, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites	OMIM:256550
Congenital Heart Defects And Skeletal Malformations Syndrome	High palate, Anal atresia, Congenital diaphragmatic hernia, Intestinal malrotation, Camptodactyly...	OMIM:617602
Primary Sclerosing Cholangitis	Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail...	ORPHA:171
Congenital Bile Acid Synthesis Defect Type 4	Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Hematochezia, Rhabdomyolysis, El...	ORPHA:79095
Eosinophilic Gastroenteritis	Ascites, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Edema	ORPHA:2070
Campomelia, Cumming Type	Hepatomegaly, Hydrops fetalis, Abnormality of the pancreas, Lymphedema, Death in infancy, Oligohy...	ORPHA:1318
15Q24 Microdeletion Syndrome	Anal atresia, Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation t...	ORPHA:94065
Boomerang Dysplasia	Polyhydramnios, Hydrops fetalis	ORPHA:1263
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Hydrops fetalis, Single umbilical artery	ORPHA:3405
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen...	ORPHA:75564
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Polyhydramnios, Hypoalbuminemia, Hyponatremia...	OMIM:618183
Retinitis Pigmentosa 73	Pallor	OMIM:616544
Perlman Syndrome	Congenital diaphragmatic hernia, Distal ileal atresia, Hypoplasia of the abdominal wall musculatu...	OMIM:267000
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Pallor, Edema, Periorbital edema, Aganglionic megacolon	ORPHA:3386
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Cebalid Syndrome	High palate, Congenital diaphragmatic hernia	OMIM:618774
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia	OMIM:166300
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Alg1-Cdg	Decreased liver function, Hypoalbuminemia	ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Death in childhood, Nonimmune hydrops fetalis, Elevated hepatic transaminase, Hypoc...	OMIM:212065
Immunodeficiency 27A	Hepatosplenomegaly, Hypoalbuminemia, Splenomegaly	OMIM:209950
Mu-Heavy Chain Disease	Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly	ORPHA:100024
Craniofrontonasal Dysplasia	High palate, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1520
Avian Influenza	Miscarriage, Elevated circulating C-reactive protein concentration, Elevated circulating creatine...	ORPHA:454836
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi...	OMIM:616689
Mody	Pancreatic hypoplasia, Elevated hemoglobin A1c, Exocrine pancreatic insufficiency, Hepatocellular...	ORPHA:552
Histiocytosis-Lymphadenopathy Plus Syndrome	Histiocytosis, Flexion contracture of finger, Hepatomegaly, Decreased response to growth hormone ...	OMIM:602782
Al Amyloidosis	Autonomic erectile dysfunction, Hepatomegaly, Abnormal autonomic nervous system physiology, Incre...	ORPHA:85443
Fryns Syndrome	High palate, Ectopic anus, Anal atresia, Duodenal atresia, Gastroesophageal reflux, Congenital di...	ORPHA:2059
Wilson Disease	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ped...	OMIM:277900
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Gastroesophageal reflux, Cirrhosis, Usual interstitial pneumonia, Aplastic anemia, Myeloid leukem...	OMIM:614742
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Omphalocele	ORPHA:3186
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
13Q12.3 Microdeletion Syndrome	Cryptorchidism, Congenital diaphragmatic hernia, Recurrent respiratory infections, Camptodactyly	ORPHA:412035
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal h...	OMIM:601186
Infantile Liver Failure Syndrome 1	Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He...	OMIM:615438
Emanuel Syndrome	High palate, Multiple joint contractures, Anal atresia, Ectopic anus, Gastroesophageal reflux, Co...	ORPHA:96170
Cooper-Jabs Syndrome	Camptodactyly of finger, Anteriorly placed anus, Congenital diaphragmatic hernia, Umbilical hernia	ORPHA:1488
Xfe Progeroid Syndrome	Death in adolescence, Dry skin, Optic atrophy, Elevated hepatic transaminase, Hypoalbuminemia, As...	OMIM:610965
Leigh Syndrome With Nephrotic Syndrome	Generalized edema, Oligohydramnios, Intrauterine growth retardation, Hypoalbuminemia	ORPHA:255249
Long Qt Syndrome 3	Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:603830
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Facial palsy, Thrombocyt...	OMIM:611490
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Gaucher Disease, Perinatal Lethal	Petechiae, Hepatomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Nonimmune hydrops fet...	OMIM:608013
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c...	ORPHA:79302
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Dysphagia, Facial diplegia	OMIM:160900
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites	ORPHA:69735
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Cleft palate	OMIM:301022
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Hepatomegaly, Inguinal hernia, Cleft palate, Contracture of the distal interphala...	ORPHA:83617
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Abnormal circulating protein concentration, Pedal ede...	ORPHA:86839
Wolman Disease	Hepatomegaly, Hepatic failure, Splenomegaly, Steatorrhea, Esophageal varix, Anemia, Bone-marrow f...	ORPHA:75233
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct...	OMIM:617394
Klippel-Trénaunay Syndrome	Hydrops fetalis, Ascites, Hepatomegaly, Edema	ORPHA:90308
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce...	OMIM:278000
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate, Macrocytic anemia, Cryptorchidism...	OMIM:614294
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency	OMIM:260370
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:208920
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor, Hepatomegaly, Jaundice	OMIM:613839
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni...	OMIM:208540
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypoalbuminemia, Edema	OMIM:617575
Pearson Marrow-Pancreas Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Pallor, Pan...	OMIM:557000
Ppoma	Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ...	ORPHA:97278
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Pulmonary artery atresia,...	ORPHA:1692
Sialuria	Cholelithiasis, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Elevated hepatic transaminase	ORPHA:3166
Ménétrier Disease	Peripheral edema, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the extraocular muscles, Atrophic muscularis propria, Gastroesophageal reflux, Sma...	ORPHA:298
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Facial edema, Palpebral edema, Pedal edema, Hypoalbuminemia, Edema, Pleural effus...	ORPHA:567546
Autosomal Recessive Spondylocostal Dysostosis	Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate...	ORPHA:2311
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in childhood, Elevated circulating creatine kinase concentration, Death in adolescence, Neo...	OMIM:619055
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra...	OMIM:265300
Chromosome 1Q41-Q42 Deletion Syndrome	High palate, Congenital diaphragmatic hernia, Supernumerary nipple, Cleft palate, Pulmonary hypop...	OMIM:612530
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p...	OMIM:301082
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Abnormal spleen physiology, Elev...	ORPHA:398063
Grfoma	Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ...	ORPHA:97261
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Cleft palate, Bilateral lung agenesis, Pulmonary hypoplasia, Pul...	OMIM:611812
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal...	OMIM:613673
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hyperammonemia, Pallor, Death in childhood, Decreased plasma carnitine, Hyperuricemia	OMIM:246450
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia	OMIM:131400
Hemochromatosis, Type 4	Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly	OMIM:606069
Trichohepatoenteric Syndrome 1	Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the...	OMIM:222470
Intellectual Disability-Strabismus Syndrome	High palate, Recurrent gastroenteritis, Gastroesophageal reflux, Joint contracture of the hand, C...	ORPHA:363528
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor...	ORPHA:44890
Trisomy 1Q	Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Omphalocele...	ORPHA:261344
Czeizel-Losonci Syndrome	High palate, Tracheoesophageal fistula, Aplasia of the left hemidiaphragm, Hypoplastic nipples, P...	ORPHA:2437
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Intrauterine growth retardation, Sing...	OMIM:616897
Liver Disease, Severe Congenital	Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai...	OMIM:619991
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Dysphagia, Anemia, Thrombocytopenia	OMIM:230900
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis	OMIM:153100
Nephronophthisis 19	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation	OMIM:616217
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hemobilia,...	ORPHA:88673
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potentials, Prolonged neonatal jaundice,...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potentials, Prolonged neonatal jaundice,...	ORPHA:529808
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly...	OMIM:224120
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly	ORPHA:28
African Iron Overload	Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,...	ORPHA:139507
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, High palate, Lower limb hypertonia, Flexion contracture, Recurrent upper respirat...	OMIM:300534
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Congenital diaphragmatic hern...	ORPHA:1120
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Gm1-Gangliosidosis, Type I	Hepatomegaly, Splenomegaly, Hydrops fetalis, Death in infancy, Intrauterine growth retardation	OMIM:230500
Cronkhite-Canada Syndrome	Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Intestinal polyposis,...	ORPHA:2930
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Cirrhosis, Chylous ascites, Decreased prealbumin l...	ORPHA:90363
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroesophageal reflux, Cleft palate, Submucous cleft soft palate, Bifid uvula, Unilateral lung ...	ORPHA:500150
Focal Dermal Hypoplasia	Diastasis recti, Abnormality of the pulmonary vasculature, Duodenal atresia, Gastroesophageal ref...	ORPHA:2092
Perlman Syndrome	Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Inguinal hernia, Femoral hernia,...	ORPHA:2849
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Hepatocellular ...	ORPHA:158057
Myoclonus, Intractable, Neonatal	Pallor	OMIM:617235
Amoebiasis Due To Entamoeba Histolytica	Pleural empyema, Elevated hepatic transaminase, Hypoalbuminemia, Pleural effusion, Liver abscess	ORPHA:67
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the pancreas, Elevated hepatic transaminase, Abnormal lung morpholog...	ORPHA:54251
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Intestinal malrotation, Diaphragmatic eventration, Umbilical her...	OMIM:222448
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Peritonitis, Elevated circulating creatine kinase concentration, Hepatitis, Elevate...	ORPHA:36234
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Neoplasm of the lung, Testicular...	ORPHA:83469
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Macrovesicular hepatic steatosis, Optic atrophy, Elevated hepatic trans...	OMIM:618329
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Microcytic anemia, Intestinal polyposi...	ORPHA:774
Wilson Disease	Hepatomegaly, Splenomegaly, Proximal muscle weakness in lower limbs, Cirrhosis, Acute hepatic fai...	ORPHA:905
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama...	OMIM:615952
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Increased total bilirubin, Splenomegaly	ORPHA:90037
Isolated Sedoheptulokinase Deficiency	Diastasis recti, Cholestatic liver disease, Flexion contracture, Inguinal hernia, Steatorrhea, Ch...	ORPHA:440713
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:370079
Lymphatic Malformation 6	Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios...	OMIM:616843
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Arterial Tortuosity Syndrome	High palate, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Flexion contracture...	OMIM:208050
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Death in childhood, Macrovesicular hepatic steatosis, Optic atrophy, ...	OMIM:617303
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Thrombocytopenia, Normochromic anemia	OMIM:618775
Trisomy 13	Optic atrophy, Hydrops fetalis, Intrauterine growth retardation	ORPHA:3378
Blue Rubber Bleb Nevus	Intestinal bleeding, Intussusception, Volvulus, Iron deficiency anemia, Rectal prolapse, Thromboc...	OMIM:112200
Tetraamelia Syndrome 1	Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia, Peripheral pul...	OMIM:273395
Cystic Fibrosis	Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Pulmonary fibrosis, Recurrent res...	ORPHA:586
Acro-Renal-Mandibular Syndrome	High palate, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the tongue, Tracheoesophageal...	ORPHA:958
Hemochromatosis, Type 3	Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Neutropenia, Anemia	OMIM:604250
Budd-Chiari Syndrome	Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy...	ORPHA:131
Mirizzi Syndrome	Cholelithiasis, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol gallstones, Ga...	ORPHA:521219
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Meacham Syndrome	Pulmonary sequestration, Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Abno...	ORPHA:3097
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Cirrhosis, Sclerosing cholangitis, Elevated circulating aspartate aminotransferase ...	OMIM:619662
Multiple Pterygium Syndrome, Escobar Variant	High palate, Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, I...	OMIM:265000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ...	ORPHA:64753
Beckwith-Wiedemann Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarged kidney, U...	ORPHA:116
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Hydrocele testis, High palate, Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic he...	OMIM:614080
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Nonimmune hydrops fetalis, Hypertriglyceridemia, Hy...	OMIM:619313
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
2Q37 Microdeletion Syndrome	Pyloric stenosis, Congenital diaphragmatic hernia, Supernumerary nipple, Umbilical hernia	ORPHA:1001
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia, Emphysema, Recurrent respirat...	OMIM:219100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Enamel hypoplasia, A...	OMIM:240300
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Pallor	ORPHA:49827
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, High palate, Hepatomegaly, Gastroesophageal reflux, Mac...	OMIM:618268
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Oligohydramnios, Hydrops fetalis, Lymphedema	OMIM:601927
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia	ORPHA:27
Porphyria, Congenital Erythropoietic	Cholelithiasis, Corneal scarring, Joint contracture of the hand, Splenomegaly, Hemolytic anemia, ...	OMIM:263700
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Congenital diaphragmatic hernia	OMIM:619699
Mucopolysaccharidosis Type 7	Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Ascites	ORPHA:584
Evans Syndrome	Pallor, Petechiae, Jaundice	ORPHA:1959
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemia, Hydrops fetalis, Premature birth, Polyhydramnios, Hyponatremia, Edema, Fetal polyuri...	OMIM:602522
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating ferritin concentration, Pallor	OMIM:600462
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Splenomegaly, Pallor, Unconjugated hy...	OMIM:300908
Meacham Syndrome	Cardiac total anomalous pulmonary venous connection, Congenital alveolar dysplasia, Scimitar anom...	OMIM:608978
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Decreased transferrin saturation, Pallor, Hepatospl...	ORPHA:300298
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Inguinal hernia, Supernumerary nipple, Cleft palate, Umbilical h...	OMIM:618454
Elliptocytosis 1	Pallor, Jaundice, Splenomegaly	OMIM:611804
Myelofibrosis	Pallor, Purpura, Splenomegaly	OMIM:254450
Pagod Syndrome	Congenital diaphragmatic hernia, Abnormality of the spleen, Pulmonary artery hypoplasia, Pulmonar...	ORPHA:991
Gamma-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Dysphagi...	ORPHA:100026
Deafness-Lymphedema-Leukemia Syndrome	Pallor, Lymphedema, Hepatomegaly, Splenomegaly	ORPHA:3226
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Lethal Congenital Contracture Syndrome 10	Oligohydramnios, Hydrops fetalis, Intrauterine growth retardation, Fetal akinesia sequence	OMIM:617022
Primary Myelofibrosis	Petechiae, Hepatomegaly, Splenomegaly, Pallor, Hepatosplenomegaly, Purpura, Ecchymosis, Portal hy...	ORPHA:824
Alg12-Cdg	Redundant skin, Polyhydramnios, Hypocholesterolemia, Elevated hepatic transaminase, Hypoalbuminem...	ORPHA:79324
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Incr...	OMIM:226670
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Hepatomegaly, Abnormal circulating fatty-acid concentration, Increased ...	ORPHA:263455
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Abnormal stomach morphology, Intussusception, Abnorma...	ORPHA:512
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:289916
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia	OMIM:612840
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Pallor	OMIM:608423
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis	OMIM:607823
Cold Agglutinin Disease	Pallor, Hepatomegaly, Splenomegaly	ORPHA:56425
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor, Hepatosplenomegaly, Hypokalemia	OMIM:611590
Omenn Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l...	OMIM:603554
Cornelia De Lange Syndrome 1	High palate, Malrotation of colon, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal herni...	OMIM:122470
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga...	ORPHA:209902
Sepsis In Premature Infants	Decreased liver function, Petechiae, Elevated circulating C-reactive protein concentration, Hepat...	ORPHA:90051
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Increased muscle glycogen content, Skeletal muscle atrophy	ORPHA:371
Oculocerebrocutaneous Syndrome	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:1647
8P23.1 Microdeletion Syndrome	High palate, Cryptorchidism, Congenital diaphragmatic hernia, Pulmonary artery stenosis	ORPHA:251071
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice	OMIM:185000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:79312
Halperin-Birk Syndrome	High palate, Gastroesophageal reflux, Congenital diaphragmatic hernia, Inguinal hernia, Flexion c...	OMIM:618651
Congenital Dyserythropoietic Anemia Type Iii	Hyperbilirubinemia, Pallor, Elevated hepatic transaminase, Increased serum iron, Increased total ...	ORPHA:98870
Zaki Syndrome	High palate, Congenital diaphragmatic hernia	OMIM:619648
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pulmonary artery, Abnormality of the pancreas	ORPHA:1203
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis	OMIM:616738
Cimdag Syndrome	Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis, Hepatomegaly	OMIM:619273
Proximal 16P11.2 Microdeletion Syndrome	Pyloric stenosis, Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate	ORPHA:261197
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Cleft palate	ORPHA:1915
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Enlarged...	OMIM:200995
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Cleft palate, Ventral hernia, Pulmonary hypoplasia, Omphalocele	OMIM:313850
Opitz Gbbb Syndrome	High palate, Anal atresia, Ectopic anus, Congenital diaphragmatic hernia, Inguinal hernia, Cleft ...	ORPHA:2745
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hepatoblastoma, Supernumerary nipple, Splenomegaly, Congenital diaphragmatic hernia...	ORPHA:373
Galloway-Mowat Syndrome 3	Oligohydramnios, Intrauterine growth retardation, Hypoalbuminemia, Edema	OMIM:617729
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans...	OMIM:613027
Thakker-Donnai Syndrome	Tracheoesophageal fistula, Anal atresia, Congenital diaphragmatic hernia, Rectovaginal fistula	ORPHA:1780
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Pylor...	ORPHA:93111
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Platyspondylic Dysplasia, Torrance Type	Polyhydramnios, Hydrops fetalis	ORPHA:85166
Achondrogenesis, Type Ia	Hydrops fetalis, Absence of stomach bubble on fetal sonography, Polyhydramnios, Stillbirth, Incre...	OMIM:200600
Farber Disease	Joint swelling, Hepatic failure, Hepatosplenomegaly, Hydrops fetalis, Elevated hepatic transamina...	ORPHA:333
Abetalipoproteinemia	Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, D...	ORPHA:14
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor, Cerebral edema	ORPHA:439218
Greenberg Dysplasia	Echogenic fetal bowel, Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Hydrops fetalis, ...	OMIM:215140
Mosaic Trisomy 9	Abnormal liver lobulation, Hydrops fetalis, Polyhydramnios, Oligohydramnios, Intrauterine growth ...	ORPHA:99776
Alveolar Echinococcosis	Decreased liver function, Pulmonary cyst, Abnormal skeletal muscle morphology, Abnormality of the...	ORPHA:284
White-Sutton Syndrome	High palate, Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate, Bifid uvula,...	OMIM:616364
Non-Functioning Paraganglioma	Pallor, Cranial nerve compression, Hypercalcemia	ORPHA:94080
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Cirrhosis, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy...	ORPHA:264580
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Scimitar anomaly, Intestinal malrotation, Accessory spleen, Unil...	OMIM:618280
Neonatal Lupus Erythematosus	Neutropenia, Hepatomegaly, Hepatic failure, Splenomegaly, Aplastic anemia, Hemolytic anemia, Elev...	ORPHA:398124
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Malabsorption, Lymphopenia, Inguinal hernia, Abnormality of the pancreas, Anemia, Aganglionic meg...	ORPHA:935
Lymphoproliferative Syndrome 1	Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-...	OMIM:613011
Gm1 Gangliosidosis	Splenomegaly, Hepatosplenomegaly, Hydrops fetalis, Optic atrophy, Premature birth	ORPHA:354
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Hypocalcemia, Cirrhosis, Oligohydramnios, Hepatic steatosis, Cholestasi...	OMIM:613658
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hydrops fetalis, Hepatic fibrosis, Ascites	OMIM:614091
Caroli Syndrome	Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Esophageal varix, Jaundi...	ORPHA:480520
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Trisomy 18	Anal atresia, Narrow palate, Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of fing...	ORPHA:3380
Myopathic Ehlers-Danlos Syndrome	Pallor, Mildly elevated creatine kinase	ORPHA:536516
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Seckel Syndrome 9	Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Recurrent respiratory infections	OMIM:616777
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Enlarged kidney, ...	OMIM:263200
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Dyssegmental Dysplasia, Silverman-Handmaker Type	Increased placental thickness, Miscarriage, Single umbilical artery, Hydrops fetalis	ORPHA:1865
Fumarase Deficiency	Hyperbilirubinemia, Hepatic failure, Pallor, Cholestasis, Optic atrophy	OMIM:606812
Holoprosencephaly	Gastroesophageal reflux, Congenital diaphragmatic hernia, Intestinal atresia, Panhypopituitarism,...	ORPHA:2162
Senior-Loken Syndrome 8	Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts	OMIM:616307
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Intestinal bleeding, Multiple gastric polyps, Intussusception, Ovarian ...	OMIM:175200
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Pallor, Elevated hepatic transaminase, Hyperuricemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Craniorachischisis	Anal atresia, Congenital diaphragmatic hernia, Omphalocele	ORPHA:63260
Schneckenbecken Dysplasia	Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth	OMIM:269250
Lathosterolosis	High palate, Hepatosplenomegaly, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Increased m...	OMIM:607330
Spherocytosis, Type 2	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:616649
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Hypoalbuminemia, Pleural effusion, Periorbital edema, Pericardial effusion	OMIM:235510
Interstitial Lung And Liver Disease	Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent...	OMIM:615486
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Hepatomegaly, Recurrent respiratory infections, Hepatosplenomegaly, Pu...	ORPHA:79124
Fryns Syndrome	Anal atresia, Duodenal atresia, Joint contracture of the hand, Chylothorax, Cleft palate, Intesti...	OMIM:229850
Felty Syndrome	Hepatomegaly, Cellulitis, Splenomegaly, Abnormal lymphocyte morphology, Pleuritis, Recurrent phar...	ORPHA:47612
Aggressive Systemic Mastocytosis	Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis...	ORPHA:98850
White-Sutton Syndrome	High palate, Gastroesophageal reflux, Congenital diaphragmatic hernia, Inguinal hernia, Abnormali...	ORPHA:468678
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
X-Linked Agammaglobulinemia	Malabsorption, Cellulitis, Glossoptosis, Hepatitis, Recurrent pneumonia, Neutropenia, Abnormal lu...	ORPHA:47
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Pearson Syndrome	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Exocrine pancreatic insufficiency, H...	ORPHA:699

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us