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
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydra... OMIM:619462
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... OMIM:615710
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Microphthalmia, Syndromic 12
Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia, Neonatal death, Cleft pa... OMIM:615524
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Pentalogy Of Cantrell
Polysplenia, Absent gallbladder, Congenital diaphragmatic hernia, Omphalocele, Cleft palate, Pulm... ORPHA:1335
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... ORPHA:210122
Fetal Parvovirus Syndrome
Ascites, Intrauterine growth retardation, Increased nuchal translucency, Hydrops fetalis ORPHA:295
Meckel Syndrome, Type 6
Hepatic fibrosis, Pulmonary hypoplasia, Absent gallbladder, Hepatic cysts, Bilobed right lung, Bi... OMIM:612284
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration OMIM:300752
Cardiomyopathy, Familial Restrictive, 6
Hepatic artery hyperplasia, Ascites, Death in infancy, Portal vein hypoplasia, Hepatomegaly, Hydr... OMIM:619433
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia, Edema OMIM:600995
Congenital Lethal Erythroderma
Hypoalbuminemia, Dry skin, Death in infancy ORPHA:1954
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Increased circulating creatine kinase MM isoform, Elevated c... OMIM:613752
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Transaldolase Deficiency
Premature skin wrinkling, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incre... ORPHA:101028
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Redundant neck skin, Nonimmune hydrops fetalis, Hyperprolinemia,... OMIM:619003
Matthew-Wood Syndrome
Annular pancreas, Duodenal stenosis, Cryptorchidism, Congenital diaphragmatic hernia, Abnormal sp... ORPHA:2470
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphrag... OMIM:601163
Erythroderma, Lethal Congenital
Hypoalbuminemia, Death in infancy OMIM:227090
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Oligohydramnios, Elevated circulating t... OMIM:616000
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Pallor, Splenomegaly, Hepatomegaly, Polyhydramnios, Hydrops fetalis ORPHA:163596
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso... ORPHA:309108
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Neonatal death, Nonimmu... OMIM:620014
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Pallor, Cholecystitis, Reduced haptoglobin level... OMIM:266200
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Pancreatic hypoplasia, Umbilical hernia, Intestinal malrotation, A... OMIM:600001
Congenital Disorder Of Glycosylation, Type Ik
Intrauterine growth retardation, Splenomegaly, Death in infancy, Nonimmune hydrops fetalis, Hepat... OMIM:608540
Nephrotic Syndrome, Type 9
Hypoalbuminemia, Edema OMIM:615573
Congenital Diaphragmatic Hernia
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pul... ORPHA:2140
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased liver function, Ascites, Elevated circulating creatinine concentration... OMIM:608104
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia, Edema OMIM:614131
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Ascites, Hyperlipidemia, Pleural effusion, Edema OMIM:603278
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Pleural ... OMIM:617049
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea... ORPHA:367
Peripheral Cone Dystrophy
Optic atrophy, Optic disc pallor, Pallor OMIM:609021
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Edema OMIM:614652
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... ORPHA:848
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly OMIM:312500
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Diffuse Neonatal Hemangiomatosis
Ascites, Hepatomegaly, Polyhydramnios, Hydrops fetalis, Hypercalcemia, Premature birth ORPHA:2123
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hepatomegaly, Hydrops fetalis, Splenomegaly ORPHA:2204
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism DECIPHER:39
Congenital Analbuminemia
Hypoalbuminemia, Facial edema, Edema, Premature birth, Oligohydramnios, Hyperlipidemia, Hyperchol... ORPHA:86816
Glycogen Storage Disease Iv
Hepatic failure, Ascites, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly,... OMIM:232500
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Edema, Abnormal circulating protein concentration, Abnormal circulating polysacc... ORPHA:103910
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Abnormality of the spleen, Abnormality of the liver, Anorectal anomaly, ... ORPHA:1834
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Glycogen Storage Disease Xii
Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Splenomegaly, ... OMIM:611881
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Fetal Gaucher Disease
Abnormality of the spleen, Splenomegaly, Death in infancy, Neonatal death, Fetal akinesia sequenc... ORPHA:85212
Infantile Sialic Acid Storage Disease
Ascites, Death in childhood, Splenomegaly, Hepatomegaly, Hydrops fetalis, Conjugated hyperbilirub... OMIM:269920
Achondrogenesis, Type Ib
Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Cholelithiasis, Increased muscle glycogen content... OMIM:232800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Congenital Heart Block
Intrauterine growth retardation, Oligohydramnios, Pleural effusion, Peripheral edema, Pallor, Vag... ORPHA:60041
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia ORPHA:2141
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Intrauterine growth retardation, Death in infancy, Neonatal death, Noni... OMIM:618835
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Intrauterine growth retardation, Death in infancy, Neonatal death, Noni... OMIM:618839
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi... ORPHA:231222
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... ORPHA:766
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, ... ORPHA:3032
Fetal Encasement Syndrome
Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Chondrodysplasia, Blomstrand Type
Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth OMIM:215045
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Premature birth ORPHA:1909
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hepatomegaly, E... ORPHA:79319
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Congenital Enterovirus Infection
Hypoalbuminemia, Fetal ascites, Hepatic failure, Hepatitis, Fetal distress, Cholestasis, Pleural ... ORPHA:292
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Umbilical hernia, Exocrine pancreatic insuffi... ORPHA:2255
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Hypercholesterolemia OMIM:607250
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Congenital diaphragmatic hernia, Omphalocele, Flexio... OMIM:263210
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... ORPHA:1041
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Death in childhood, Cirrhosis, Hepatomegaly, ... OMIM:602579
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pallor, Spl... ORPHA:507
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cleft palate, Cryptorchidism, Abnormality of the pulmonary artery ORPHA:1166
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Oli... OMIM:619013
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chylopericardium ORPHA:2414
Nephrotic Syndrome, Type 3
Hypoalbuminemia, Edema OMIM:610725
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:261102
Fibronectin Glomerulopathy
Hypoalbuminemia, Pedal edema ORPHA:84090
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverticulum, Abnormal lung lobatio... ORPHA:1666
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hamartoma of tongue, Absent gallbladder, Neonatal death, Anal atresia, Esophageal diverticulum, C... OMIM:617925
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Pallor,... ORPHA:75563
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Absent gallbladder, Pancreatic aplasia ORPHA:556955
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Exocrine pancreatic insufficiency, Absent gallbladder, Neonatal death, Elevated circulating alani... OMIM:618500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Fetal pericardial effusion, Decreased liver function, Ascites, Intrauterine grow... OMIM:617021
Alg8-Cdg
Optic atrophy, Elevated circulating hepatic transaminase concentration, Premature skin wrinkling,... ORPHA:79325
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Ascites, Hypocholesterolemia, Fetal skin edema, Splenomegaly, Decreased fetal mo... OMIM:608776
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Hydrops fetalis, Death in infancy OMIM:618815
Nephrotic Syndrome, Type 6
Hypoalbuminemia, Edema OMIM:614196
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology, Congenit... ORPHA:2847
Sialidosis Type 2
Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema ORPHA:87876
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... OMIM:618805
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Thrombocytopenia, Anemia, Cleft palate ORPHA:163979
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c... OMIM:617093
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Congenital diaphragmatic hernia, Hyposegmentation of... ORPHA:250999
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Decreased testicular size, Cryptorchidism, Congenital diaphragmatic... OMIM:300978
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Splenomegaly, Macrocytic anemia, Chol... OMIM:615512
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Free Sialic Acid Storage Disease
Skin ulcer, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis ORPHA:834
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Distal Duplication 5Q
Hernia, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... OMIM:607616
Trisomy 10P
Gastroesophageal reflux, Decreased muscle mass, Absent gallbladder, Camptodactyly, High palate, R... ORPHA:171929
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Congenital Myopathy 1B, Autosomal Recessive
Abnormal circulating creatine kinase concentration, Decreased fetal movement, Hydrops fetalis, Po... OMIM:255320
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... ORPHA:53035
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Abn... ORPHA:88618
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Congenital diaphragmatic hernia, Macrocytic anemia, Granulocytopenia, Cleft palate OMIM:606164
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Anal at... ORPHA:2063
Alg6-Cdg
Hypoalbuminemia, Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver ORPHA:79320
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Portal hyperte... OMIM:610199
Trisomy 8P
Bifid uvula, Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, ... ORPHA:264450
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism ORPHA:36
Vacterl/Vater Association
Anorectal anomaly, Abnormality of the gallbladder, Cryptorchidism, Congenital diaphragmatic herni... ORPHA:887
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Small hypothenar eminence, Contractures of the large joints, Cryptorchidism,... ORPHA:96092
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Abnormal small intestine morphology, Splenomegaly ORPHA:100025
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Cryptorchidism, Esophageal atresia, Omphalocele, Anal atresia, C... ORPHA:95706
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Generalized edema, Increased circulating ferritin concentration, Increased total... OMIM:267700
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Generalized edema, Edema OMIM:615244
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Umbilical hernia, Congenital diaphragmatic hernia, ... ORPHA:284180
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Elevated circulating... OMIM:618838
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Serkal Syndrome
Malrotation of small bowel, Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:139466
Leber Congenital Amaurosis 14
Optic disc pallor, Pallor OMIM:613341
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor, Pallor OMIM:612989
Schisis Association
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Omphalocele, Anal atresia, Cleft palate ORPHA:63862
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Pallor OMIM:606353
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia, C... ORPHA:2075
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Zttk Syndrome
Bifid uvula, Absent gallbladder, Submucous cleft hard palate, Unilateral lung agenesis, Intestina... OMIM:617140
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Macrocytic anemia, Steroid-respon... OMIM:613309
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Reticulocytosis, Myopathy, Jaundice, Hemolytic anemia ORPHA:33574
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins... ORPHA:456312
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Wolcott-Rallison Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic ... ORPHA:1667
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome... OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase conce... OMIM:619487
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Periorbital edema, Peritonitis, Edema ORPHA:656
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Cleft palate OMIM:300712
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Steinfeld Syndrome
Bifid uvula, Absent gallbladder, Median cleft palate OMIM:184705
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Generalized edema, Ascites, Hepatomegaly, Hypoproteinemia, Edema OMIM:226300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Generalized edema, Elevated circulating hepatic transaminase concentration, Incr... OMIM:603553
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Generalized edema, Peritoneal effusion, Hypomagnesemia, Ascites, Pleural effusio... ORPHA:90362
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, I... ORPHA:276575
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor ORPHA:209981
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Increased C-peptide level, Decreased ... ORPHA:276556
Tetrasomy 9P
Bifid uvula, Umbilical hernia, Abnormal dental enamel morphology, Absent gallbladder, Cryptorchid... ORPHA:3310
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Emanuel Syndrome
Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Recurrent sinusitis, Congenital ... OMIM:609029
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Aplas... OMIM:614742
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circulating ferrit... OMIM:616050
Lowry-Maclean Syndrome
High, narrow palate, Abnormality of the abdominal organs, Bilateral cryptorchidism, Congenital di... ORPHA:2409
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Anemia, Flexion contracture, Pancreat... OMIM:609069
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Intrauterine growth retardation OMIM:618347
Breath-Holding Spells
Pallor OMIM:607578
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Cryptorch... ORPHA:94065
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Agenesis of pulmonary vessels, Multilobulated spleen, Alveolar capilla... OMIM:601186
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Edema OMIM:256300
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice OMIM:603552
Mulibrey Nanism
Ascites, Hepatomegaly, Intrauterine growth retardation, Hydrops fetalis OMIM:253250
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Pallor, Splenomegaly, Elevated hepatic iron concent... OMIM:615234
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased serum bile ac... OMIM:242150
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplen... ORPHA:77259
Mody
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Hepatocellular adenoma, Pancreatic hy... ORPHA:552
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Anasarca, Hypomagnesemia, Ascites, Pleural effusion, Hypocalcemia, Death in infa... OMIM:618183
American Trypanosomiasis
Pallor, Splenomegaly, Aganglionic megacolon, Hepatomegaly, Periorbital edema, Edema ORPHA:3386
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Elevated circulating aspartate aminotransferase concentration, Hy... OMIM:620609
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Edema, Ascites, Hypoalbuminemia ORPHA:2070
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive pro... OMIM:308240
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia OMIM:300887
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:615085
Alg1-Cdg
Hypoalbuminemia, Decreased liver function ORPHA:79327
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:260370
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Campomelia, Cumming Type
Lymphedema, Pancreatic cysts, Oligohydramnios, Death in infancy, Hepatomegaly, Hydrops fetalis, A... ORPHA:1318
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Single umbilical artery ORPHA:3405
Avian Influenza
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Pleural effu... ORPHA:454836
Coffin-Siris Syndrome 3
Umbilical hernia, Inguinal hernia, Macroglossia, High palate, Cleft palate, Central diaphragmatic... OMIM:614608
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Congen... OMIM:611812
Neuraminidase Deficiency
Facial edema, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:256550
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor OMIM:613561
Craniofrontonasal Dysplasia
High palate, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1520
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Cebalid Syndrome
High palate, Congenital diaphragmatic hernia OMIM:618774
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Omphalocele ORPHA:3186
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia,... ORPHA:2059
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly OMIM:209950
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Pancreatic hypoplasia, Camptodactyly of finger, Decreased response to... OMIM:602782
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc... OMIM:212065
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Xfe Progeroid Syndrome
Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Ascites,... OMIM:610965
Al Amyloidosis
Hypoalbuminemia, Xerostomia, Postural hypotension with compensatory tachycardia, Abnormality of t... ORPHA:85443
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level ORPHA:276580
Mu-Heavy Chain Disease
Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly ORPHA:100024
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
13Q12.3 Microdeletion Syndrome
Camptodactyly, Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:412035
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor, Increased C-peptide level, Decreased circulating free fatty acid level ORPHA:324575
Emanuel Syndrome
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Congenital diaphragmatic hernia, Multiple j... ORPHA:96170
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Ga... OMIM:613177
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis ORPHA:69735
Cooper-Jabs Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Anteriorly placed anus, Camptodactyly of finger ORPHA:1488
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cholelithiasis, Pancreatic hypoplasia, Contracture of the distal interphalangea... ORPHA:83617
Sialuria
High, narrow palate, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:3166
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Refractory Anemia With Excess Blasts
Anemic pallor, Abnormal circulating protein concentration, Pedal edema, Abnormal circulating albu... ORPHA:86839
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... OMIM:615438
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Dysphagia, Facial diplegia OMIM:160900
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El... OMIM:613812
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Facial edema, Edema, Anasarca, Ascites, Hyperlipidemia, Pleural effusion, Palpeb... ORPHA:567546
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Pulmonary hypoplasia, Biliary cirrhos... OMIM:208540
Gaucher Disease, Perinatal Lethal
Hepatic failure, Desquamation of skin soon after birth, Ascites, Intrauterine growth retardation,... OMIM:608013
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, St... ORPHA:75233
Perlman Syndrome
Distal ileal atresia, Visceromegaly, Volvulus, Cryptorchidism, Pancreatic islet-cell hyperplasia,... OMIM:267000
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Congenital diaphragmatic hernia, Cryptorchidism, Macrocytic anemia, Inguinal hernia,... OMIM:614294
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thr... OMIM:226990
Porphyria, Congenital Erythropoietic
Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Corneal scarring, Splen... OMIM:263700
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea... OMIM:278000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia OMIM:131400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Intrauterine growth retardation, Death in childhood, Death in infancy, Neonatal ... OMIM:619055
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ... OMIM:222470
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Hepatic agen... ORPHA:1692
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic hernia, Cryptorchidism, Ingui... ORPHA:2311
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, High palate, Cleft palate,... OMIM:612530
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis OMIM:153100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Intrauterine growth retardation, Pleural effusion, Single umbilical artery, Polyhydramni... OMIM:616897
Czeizel-Losonci Syndrome
Hypoplastic nipples, Tracheoesophageal fistula, High palate, Posterolateral diaphragmatic hernia,... ORPHA:2437
Congenital Heart Defects And Skeletal Malformations Syndrome
Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia, Anal atresia, Camptodact... OMIM:617602
Klippel-Trénaunay Syndrome
Ascites, Hepatomegaly, Hydrops fetalis, Edema ORPHA:90308
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Gastroesophageal reflux, Decreased response to growth hormone stim... ORPHA:363528
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Refractory Celiac Disease
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma... ORPHA:398063
Ménétrier Disease
Hypoalbuminemia, Peripheral edema, Hypoproteinemia ORPHA:2494
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Pulmonary edema, Abnormal hepatic echogenicity, Hepatomeg... OMIM:619991
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Intestinal obstruct... ORPHA:44890
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth OMIM:200610
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Decreased muscl... ORPHA:298
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Gastroesophageal reflux, Emphysema, Absent gallbladder, Submucous cleft soft palate,... ORPHA:500150
Jansen-De Vries Syndrome
Gastroesophageal reflux, Central diaphragmatic hernia OMIM:617450
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Celiac disease, Exocrine pancreatic insufficiency, ... OMIM:615952
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Intesti... ORPHA:97278
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous retu... ORPHA:1120
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Recurrent upper respiratory tract infections, Decreased testicular size, Furrowed... OMIM:300534
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Intesti... ORPHA:97261
Hemochromatosis, Type 4
Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Omphalocele, Anal atres... ORPHA:261344
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... OMIM:620296
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Prolonged neon... ORPHA:529808
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Hydrops fetalis OMIM:616738
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Prolonged neon... ORPHA:529799
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:611490
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Desmoplastic Small Round Cell Tumor
Ileus, Hepatomegaly, Testicular neoplasm, Abnormal peritoneum morphology, Anemia, Ovarian neoplas... ORPHA:83469
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Inguinal hernia, Cryptorchidism, Hepatomegaly,... ORPHA:2849
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Anasarca, Reduced circulating transferrin concentration, Lymphedema, Hypocholest... ORPHA:90363
Focal Dermal Hypoplasia
Gastroesophageal reflux, Camptodactyly of finger, Acute hepatic failure, Umbilical hernia, Abnorm... ORPHA:2092
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... OMIM:112200
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased connective tissue, ... OMIM:226670
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hyponatre... ORPHA:247353
Reni Syndrome
Hypoalbuminemia, Edema, Hypertriglyceridemia OMIM:617575
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Increased total bilirubin ORPHA:90037
Meacham Syndrome
Abnormal lung lobation, Abnormality of the spleen, Cryptorchidism, Congenital diaphragmatic herni... ORPHA:3097
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Diaphragm... OMIM:222448
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Diastasis recti, Inguinal... ORPHA:440713
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Decrease... OMIM:618329
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... OMIM:616843
Evans Syndrome
Jaundice, Pallor, Petechiae ORPHA:1959
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Nonimmune hydrops fetalis, Hypertriglyceridemia, Pe... OMIM:619313
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal testis morphology... ORPHA:54251
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Congenital diaphragmatic hernia, Trache... ORPHA:958
Combined Oxidative Phosphorylation Deficiency 57
Fetal pleural effusion, Nonimmune hydrops fetalis, Death in infancy, Neonatal death OMIM:620167
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Cholelithiasis, Normochromic anemia OMIM:618775
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated... ORPHA:36234
Primary Myelofibrosis
Hepatosplenomegaly, Pallor, Petechiae, Portal hypertension, Ecchymosis, Splenomegaly, Hepatomegal... ORPHA:824
Hemochromatosis, Type 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Anemia OMIM:604250
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pleural effusion, Pleur... ORPHA:67
Gm1-Gangliosidosis, Type I
Intrauterine growth retardation, Splenomegaly, Death in infancy, Hepatomegaly, Hydrops fetalis OMIM:230500
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Pallor ORPHA:49827
2Q37 Microdeletion Syndrome
Pyloric stenosis, Umbilical hernia, Congenital diaphragmatic hernia, Supernumerary nipple ORPHA:1001
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Congenital Syphilis
Optic atrophy, Intrauterine growth retardation, Large placenta, Palmoplantar scaling skin, Petech... ORPHA:499009
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, Gallbladde... ORPHA:521219
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Gastroesophageal reflux, Congenital diaphragmatic hernia, Anal atresia, High palat... OMIM:614080
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Myelofibrosis
Hepatomegaly, Purpura, Pallor, Splenomegaly OMIM:254450
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Arthrogryposis multiplex congenita, Umbilical hernia, Cryptorchidism, ... OMIM:265000
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Pallor, Splenomegaly, Lymphedema ORPHA:3226
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Optic atrophy, Death in childhood, Splenomegaly, Hepatomegaly, Macrovesicular he... OMIM:617303
Trisomy 13
Optic atrophy, Intrauterine growth retardation, Hydrops fetalis ORPHA:3378
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Autoinflammatory Disease, Systemic, With Vasculitis
Periorbital edema, Erythema, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminot... OMIM:620376
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... ORPHA:100026
Beckwith-Wiedemann Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Pol... ORPHA:116
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Splenomegaly, Jaundice, Decreased glucose-6-phosphate dehydrogenase level in blood, Prolo... OMIM:300908
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Duodenal Atresia
Abnormality of the pulmonary artery, Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the spleen, Congenital diaphragmatic hernia, Abnormal... ORPHA:991
Tetraamelia Syndrome 1
Adrenal gland agenesis, Congenital diaphragmatic hernia, Asplenia, Anal atresia, Peripheral pulmo... OMIM:273395
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Pallor OMIM:611590
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Meacham Syndrome
Accessory spleen, Diaphragmatic eventration, Aplasia of the right hemidiaphragm, Scimitar anomaly... OMIM:608978
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased circulating carnitine concentration, Elevated circulating aspartate aminotransferase co... OMIM:246450
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Congenital diaphragmatic hernia OMIM:619699
Cardiac-Urogenital Syndrome
Accessory spleen, Intestinal malrotation, Scimitar anomaly, Cryptorchidism, Congenital diaphragma... OMIM:618280
Cornelia De Lange Syndrome 1
Pneumonia, High, narrow palate, Gastroesophageal reflux, Elbow flexion contracture, Cryptorchidis... OMIM:122470
Mucopolysaccharidosis Type 7
Hepatitis, Lymphedema, Ascites, Splenomegaly, Hydrops fetalis ORPHA:584
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... ORPHA:512
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, In... ORPHA:79324
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pallor, Pancre... ORPHA:263455
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia OMIM:612840
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate, Pyloric stenosis ORPHA:261197
Zaki Syndrome
High palate, Congenital diaphragmatic hernia OMIM:619648
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Sepsis In Premature Infants
Decreased liver function, Pallor, Petechiae, Splenomegaly, Hepatomegaly, Caesarian section, Eleva... ORPHA:90051
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Omphalocele, Cleft palate, Pulmonary hypoplasia OMIM:313850
Non-Functioning Paraganglioma
Hypercalcemia, Pallor, Cranial nerve compression ORPHA:94080
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Halperin-Birk Syndrome
Gastroesophageal reflux, Pseudobulbar paralysis, Umbilical hernia, Congenital diaphragmatic herni... OMIM:618651
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Omphalocele, Hepatomegaly,... OMIM:200995
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis OMIM:619273
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Inguinal hernia, Congenital di... OMIM:219100
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, High palate, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:251071
Arterial Tortuosity Syndrome
Bifid uvula, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Hiatus hernia, P... OMIM:208050
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1647
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Periorbital edema, Peri... OMIM:235510
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Opitz Gbbb Syndrome
Umbilical hernia, Ankyloglossia, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia... ORPHA:2745
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Anasarca, Decreased liv... OMIM:613658
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Cleft palate ORPHA:1915
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Pleural effusion, Anasarca, Edema OMIM:254900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis, Hypoparathyroidi... OMIM:240300
Myopathic Ehlers-Danlos Syndrome
Pallor, Mildly elevated creatine kinase ORPHA:536516
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Polysplenia, Supernumerary nipple, Camptodactyly of finger, Umbilical hernia... ORPHA:373
Fryns Syndrome
Joint contracture of the hand, Chylothorax, Meckel diverticulum, Polysplenia, Intestinal malrotat... OMIM:229850
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Abnor... ORPHA:284
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts OMIM:616307
Retinitis Pigmentosa 51
Pallor OMIM:613464
White-Sutton Syndrome
Bifid uvula, Gastroesophageal reflux, Congenital diaphragmatic hernia, Facial hypotonia, High pal... OMIM:616364
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:333
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Recurrent respiratory infections OMIM:616777
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Cholestasis, Elevated... OMIM:615486
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Intrauterine growth retardation, Oligohydramnios, Edema OMIM:617729
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... ORPHA:398124
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:264580
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Hydrops fetalis, Single umbilical artery, Miscarriage ORPHA:1865
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Beta-Ketothiolase Deficiency
Edema, Pallor, Hyperammonemia, Hyperuricemia, Hepatomegaly, Dehydration ORPHA:134
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie... OMIM:618268
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Nonimmune hydrops fetalis, Neonatal death, Singl... OMIM:620244
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... ORPHA:480520
Greenberg Dysplasia
Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Pancreatic islet-cell hyperpla... OMIM:215140
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Ovarian cyst, Biliary tract abn... OMIM:175200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
White-Sutton Syndrome
Gastroesophageal reflux, Congenital diaphragmatic hernia, Inguinal hernia, Ventral hernia, Abnorm... ORPHA:468678
Achondrogenesis, Type Ia
Absence of stomach bubble on fetal sonography, Increased nuchal translucency, Stillbirth, Polyhyd... OMIM:200600
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Thakker-Donnai Syndrome
Anal atresia, Rectovaginal fistula, Congenital diaphragmatic hernia, Tracheoesophageal fistula ORPHA:1780
Mosaic Trisomy 9
Intrauterine growth retardation, Oligohydramnios, Single umbilical artery, Polyhydramnios, Asplen... ORPHA:99776
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent upper and lower respiratory tract infections ORPHA:171876
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia, Pulmonary ... OMIM:620365
Trisomy 18
Camptodactyly of finger, Cryptorchidism, Congenital diaphragmatic hernia, Hernia, Anal atresia, E... ORPHA:3380
Holoprosencephaly
Gastroesophageal reflux, Panhypopituitarism, Abnormality of the spleen, Median cleft palate, Cryp... ORPHA:2162
Gm1 Gangliosidosis
Optic atrophy, Hepatosplenomegaly, Splenomegaly, Hydrops fetalis, Premature birth ORPHA:354
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Pallor, Hep... ORPHA:348
Felty Syndrome
Cellulitis, Recurrent pneumonia, Abnormal lymphocyte morphology, Splenomegaly, Recurrent pharyngi... ORPHA:47612
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Reduced pancreatic beta cells, Arthrogryposis multiplex congenita, ... ORPHA:99885
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce... OMIM:607330
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Eosinophilia, Coombs-... OMIM:304790
Schneckenbecken Dysplasia
Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth OMIM:269250
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:614886
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Increased total bilirubin ORPHA:90036
Dominant Beta-Thalassemia
Hepatic fibrosis, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, Splenomegaly, Jaundice, ... ORPHA:231226
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Denys-Drash Syndrome