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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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