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Gene: Hlx MGI:96109

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

H2.0-like homeobox

Synonyms:

Hlx1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hlx mutations

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

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

Human diseases associated with Hlx (0 diseases)
Human diseases predicted to be associated with Hlx (749 diseases)

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

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

Disease	Matching phenotypes	Source
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	Ovarian gonadoblastoma, Congenital diaphragmatic hernia, Neonatal death, Posterolateral diaphragm...	OMIM:194080
Smith-Lemli-Opitz Syndrome	Pyloric stenosis, Gastroesophageal reflux, Microglossia, Abnormal lung lobation, Abnormal dental ...	ORPHA:818
Craniorachischisis	Anal atresia, Congenital diaphragmatic hernia, Omphalocele	ORPHA:63260
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Ataxia-Telangiectasia-Like Disorder 2	Dysphagia, Congenital diaphragmatic hernia, Joint contracture	OMIM:615919
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Edema, Pallor, Hyperammonemia, Hyperuric...	ORPHA:20
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Villous atrophy, Increased intestinal transit tim...	OMIM:619377
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Bile duct proliferation...	OMIM:607361
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Wolf-Hirschhorn Syndrome	Abdominal situs inversus, Abnormality of the gallbladder, Cryptorchidism, Congenital diaphragmati...	ORPHA:280
Lethal Congenital Contracture Syndrome 10	Fetal akinesia sequence, Intrauterine growth retardation, Hydrops fetalis, Oligohydramnios	OMIM:617022
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Dermal translucency, Nonimmune hydrops fetalis, Lymphedema	OMIM:137940
Ring Chromosome 13 Syndrome	High palate, Anal atresia, Hypoplasia of the gallbladder	ORPHA:96176
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis	OMIM:607823
Fumarase Deficiency	Optic atrophy, Intrahepatic cholestasis, Hepatic failure, Ascites, Hyperbilirubinemia, Pallor, Bi...	OMIM:606812
Fraser Syndrome 3	Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St...	OMIM:617667
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Congenital diaphragmatic hernia, Inguinal hernia, Cardiomegaly, Left v...	OMIM:245600
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Exocrin...	ORPHA:699
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor, Increased circulating ferritin concentration	OMIM:600462
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Developmental Delay With Or Without Dysmorphic Facies And Autism	Supernumerary nipple, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Cryptor...	OMIM:618454
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Optic atrophy, Intrauterine growth retardation, Oligohydramnios	OMIM:251300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp...	ORPHA:2072
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Persistence of hemo...	OMIM:260400
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Pallor	ORPHA:99931
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph...	ORPHA:79240
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Elevated circulating palmitoleylcarnitine concentration, Intrauterine growth retar...	ORPHA:79282
Galactosialidosis	Hepatosplenomegaly, Nonimmune hydrops fetalis	OMIM:256540
Oligomeganephronia	Congenital diaphragmatic hernia, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypomagnesem...	ORPHA:37042
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ...	OMIM:617941
Cerebrotendinous Xanthomatosis	Cholelithiasis, Tendon xanthomatosis, Lower limb muscle weakness, Pseudobulbar paralysis	OMIM:213700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Fetal polyuria, Hypokalemia, Hyponatremia, Polyhydramnios, Hydrops fetalis, Hyp...	OMIM:602522
Cranioectodermal Dysplasia 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly...	OMIM:613610
Dravet Syndrome	Pallor	ORPHA:33069
Plummer-Vinson Syndrome	Pallor, Decreased circulating ferritin concentration	ORPHA:54028
Meckel Syndrome, Type 7	Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert...	OMIM:267010
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Inguinal hernia, Aganglionic megacolon, Anemia, Recurrent respiratory infections, Ab...	ORPHA:935
Fibrochondrogenesis 1	Hydrops fetalis, Stillbirth	OMIM:228520
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis	OMIM:620646
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Arthrogryposis multiplex congenita, Hepatiti...	ORPHA:355
Beta-Thalassemia Major	Hepatic fibrosis, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, Splenomegaly, Jaundice, ...	ORPHA:231214
Omenn Syndrome	Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Thrombocyt...	OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Myositis, Hep...	OMIM:617591
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Cholecystitis, Palmoplantar erythema, Scaling skin on fingertip, Elev...	ORPHA:2331
Craniofrontonasal Syndrome	Umbilical hernia, Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Unilateral ...	OMIM:304110
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Intrauterine growth retardation, Abnormal placenta morphology, Hydrops fetalis	ORPHA:79255
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Fetal distress, Death in infancy, Microvesicular hepatic steatosis, Bilateral fetal pyelectasis, ...	OMIM:300868
Limb Body Wall Complex	Abnormality of the liver, Diastasis recti, Congenital diaphragmatic hernia, Abnormal intestine mo...	ORPHA:2369
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Pallor, Splenomegaly	ORPHA:90033
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return	OMIM:618313
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumoniti...	ORPHA:77293
Waldenström Macroglobulinemia	Pallor, Pleural effusion, Splenomegaly, Hepatomegaly, Periorbital edema, Purpura, Pedal edema	ORPHA:33226
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Cholelithiasis, Recurrent pneumonia, Furrowed tongue, Contracture of the pro...	ORPHA:464738
Acrorenal-Mandibular Syndrome	Absent nipple, Elbow flexion contracture, Congenital diaphragmatic hernia, High palate, Narrow pa...	OMIM:200980
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Bone Marrow Failure Syndrome 5	Oral leukoplakia, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Pulmonary fibrosis, Testic...	OMIM:618165
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic ...	OMIM:312870
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Jejunoileal ulceration, ...	ORPHA:436252
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmo...	OMIM:230800
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia	OMIM:616546
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis	OMIM:618265
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Optic nerve hypoplasia	OMIM:609053
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Gastrointestinal hemorrhage, Tongue telangiectasia, Portal hyper...	ORPHA:774
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Umbilical hernia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Cleft palate	OMIM:301066
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Congenital contracture, Cardiomegaly, Facial hypotonia, Recurre...	ORPHA:97297
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea...	OMIM:167800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Diets-Jongmans Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Duodenal atresia	OMIM:618846
Osteogenesis Imperfecta, Type Ii	Premature birth, Nonimmune hydrops fetalis	OMIM:166210
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Elevated...	OMIM:619534
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Cholestatic liver disease, Hypocholesterolemia, Intrauterine growth retardation,...	OMIM:270400
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm	OMIM:618901
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Myopathy, Neutropenia, Hepatomegaly, Recurrent l...	OMIM:612541
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Congenital diaphragmatic herni...	OMIM:614437
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Pallor	OMIM:246400
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Gastroesophageal reflux, Decreased liver function, Hepatosplenomegal...	ORPHA:85450
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Diaphragmatic eventration, Cryptorchidism, Aortopulmonary window, He...	OMIM:620025
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Cardiomyopathy, Familial Hypertrophic, 27	Nonimmune hydrops fetalis	OMIM:618052
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,...	OMIM:618849
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Oral leukoplakia, Lymphopenia, Leukopenia, He...	OMIM:127550
Poland Syndrome	Acute leukemia, Abnormality of the liver, Absence of subcutaneous fat, Congenital diaphragmatic h...	ORPHA:2911
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Congenital Myopathy 22B, Severe Fetal	Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Hepatomegaly, Bre...	OMIM:620369
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Hydrops fetalis, Splenomegaly	OMIM:253220
Digeorge Syndrome	Hepatic steatosis, Ovarian cyst, High palate, High, narrow palate, Cholelithiasis, Gastroesophage...	OMIM:188400
Linear Skin Defects With Multiple Congenital Anomalies 1	Anteriorly placed anus, Colonic atresia, Congenital diaphragmatic hernia, Anal atresia, Cleft palate	OMIM:309801
Aymé-Gripp Syndrome	Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Camptodactyl...	ORPHA:1272
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral...	OMIM:301068
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly, Thrombocytopenia,...	ORPHA:457077
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia	OMIM:615508
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen...	OMIM:275350
Alg9-Cdg	Periportal fibrosis, Oligohydramnios, Hepatic cysts, Decreased fetal movement, Hepatomegaly, Thic...	ORPHA:79328
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Loeys-Dietz Syndrome 6	Bifid uvula, Spontaneous pneumothorax, Broad uvula, Umbilical hernia, Congenital diaphragmatic he...	OMIM:619656
7Q11.23 Microduplication Syndrome	High palate, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia	ORPHA:96121
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Exocrine pancrea...	OMIM:617052
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Elevated circulating cr...	ORPHA:99826
Meckel Syndrome, Type 2	Intestinal malrotation, Omphalocele, Bile duct proliferation, Cleft palate	OMIM:603194
Hereditary Mixed Polyposis Syndrome	Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ...	ORPHA:157794
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulating lipid concentration...	ORPHA:2298
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Optic atrophy, Hepatosplenomegaly	ORPHA:505248
Hennekam Syndrome	Chylothorax, Lymphedema, Ascites, Hypocalcemia, Splenomegaly, Pericardial effusion, Hydrops fetalis	ORPHA:2136
Mycophenolate Mofetil Embryopathy	Tracheoesophageal fistula, Congenital diaphragmatic hernia	ORPHA:268249
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Pallor, Cranial nerve compression	ORPHA:276621
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou...	ORPHA:329971
Distal Deletion 15Q	Congenital diaphragmatic hernia, Cryptorchidism, Bifid tongue, Cleft palate, Pulmonary hypoplasia	ORPHA:1596
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Torticollis, Anemia	ORPHA:71272
22Q11.2 Deletion Syndrome	Cholelithiasis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Atelectasis, Abnormal lung ...	ORPHA:567
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor	ORPHA:331206
Aceruloplasminemia	Abnormal pancreas morphology, Elevated hepatic iron concentration, Hypochromic microcytic anemia,...	ORPHA:48818
17Q12 Microdeletion Syndrome	Elevated circulating hepatic transaminase concentration, Cryptorchidism, Pancreatic aplasia	ORPHA:261265
Familial Adenomatous Polyposis	Abnormal cementum morphology, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Adenomatous c...	ORPHA:733
Myopathy, Mitochondrial, And Ataxia	Pallor, Elevated circulating creatine kinase concentration	OMIM:617675
Iniencephaly	Congenital diaphragmatic hernia, Omphalocele, Anal atresia, Arthrogryposis multiplex congenita, D...	ORPHA:63259
Gaucher Disease, Type Ii	Bronchiolitis, Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Rec...	OMIM:230900
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Monosomy 9P	Congenital diaphragmatic hernia, Cryptorchidism, Hernia, High palate, Cleft palate	ORPHA:261112
Fetal Akinesia Deformation Sequence 1	Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c...	OMIM:208150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Erythema	ORPHA:79396
Adenohypophysitis	Hyponatremia, Pallor, Orthostatic hypotension	ORPHA:95512
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran...	ORPHA:562639
Tay-Sachs Disease	Pallor	OMIM:272800
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Pancreatitis, Cerebral edema, Hydrops fetalis	OMIM:620371
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor, Increased erythrocyte protoporphyrin concentration	OMIM:301310
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Pseudoaminopterin Syndrome	Inguinal hernia, Cryptorchidism, Asplenia, High palate, Posterolateral diaphragmatic hernia	ORPHA:221120
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Cholelithiasis, Elevated circulating hepatic transaminase conce...	ORPHA:273
Panhypophysitis	Hyponatremia, Pallor, Orthostatic hypotension	ORPHA:95513
Kabuki Syndrome	High palate, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate	ORPHA:2322
Coffin-Siris Syndrome 1	Umbilical hernia, Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia, Inguin...	OMIM:135900
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Nonimmune hydrops fetalis, Lymphedema	OMIM:153400
Feingold Syndrome	Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia	ORPHA:1305
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Diastasis recti, Cryptorchidism, Cardiomegaly, Hepatoblastoma, Omphalocel...	OMIM:130650
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:537
Gaucher Disease Type 3	Pericardial effusion, Hepatomegaly, Hydrops fetalis, Splenomegaly	ORPHA:77261
Focal Dermal Hypoplasia	Anteriorly placed anus, Supernumerary nipple, Intestinal malrotation, Umbilical hernia, Diastasis...	OMIM:305600
Cerebrotendinous Xanthomatosis	Cholelithiasis, Tendon xanthomatosis, Distal amyotrophy, Abnormality of the Achilles tendon, Prol...	ORPHA:909
Juvenile Polyposis Syndrome	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis...	ORPHA:2929
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Abnormal rectum morphology, Congenital diaphragmatic hernia, A...	ORPHA:2556
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Cleft palate	OMIM:154400
Mgat2-Cdg	Hydrops fetalis	ORPHA:79329
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Hydrops fetalis, Pancreatic fibrosis	OMIM:263520
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Gastroesophageal reflux, Contracture of the proximal interphalangeal joint of the 3rd finger, Con...	OMIM:301044
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
C Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall muscula...	ORPHA:1308
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Pallor, Cranial nerve compression	ORPHA:29072
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Pallor, Hypomethioninemia, Hyperhomocystinemia, Hepatomegaly, Methylmalonic aci...	OMIM:277400
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr...	OMIM:276700
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:232220
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Angioedema, Hepatosplen...	ORPHA:3260
Sheehan Syndrome	Hyponatremia, Dry skin, Pallor, Orthostatic hypotension	ORPHA:91355
Niemann-Pick Disease Type C	Fetal ascites, Hepatic failure, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splenomega...	ORPHA:646
Mullegama-Klein-Martinez Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Congenital diaphragmatic hernia, Facial pal...	OMIM:301022
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,...	OMIM:616263
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Hydrops fetalis, Premature birth	ORPHA:50945
Infection-Related Hemolytic Uremic Syndrome	Generalized edema, Edema, Pallor, Hypocalcemia, Hyponatremia, Pancreatitis, Hyperkalemia, Pleural...	ORPHA:544482
Cornelia De Lange Syndrome	Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cryptorchidism, Congenital diaphragmat...	ORPHA:199
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Hypersplenism, Splenomegaly, Hepatomegaly, Hydrops fetalis, Hepatocellular carcinoma	ORPHA:3261
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Neonatal death, Pulmonary lymphangiectasia, Anal atresia, D...	OMIM:265380
Alternating Hemiplegia Of Childhood	Pallor, Dehydration, Abnormal autonomic nervous system physiology	ORPHA:2131
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Hepatitis, Joint swelling, Splenomegaly, Elevated circulating C-reactive protein...	OMIM:619381
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Cryptorchidism	OMIM:617641
Phocomelia, Schinzel Type	Intrauterine growth retardation, Hydrops fetalis	ORPHA:2879
Neuroblastoma	Anemic pallor, Horner syndrome, Increased circulating ferritin concentration	ORPHA:635
Alkaptonuria	Black pigment gallstones, Thickened Achilles tendon, Methemoglobinemia, Tendon rupture, Hemolytic...	ORPHA:56
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Recurrent respiratory i...	OMIM:208500
Atelosteogenesis Type I	Pulmonary hypoplasia, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology	ORPHA:1190
Noonan Syndrome 2	Increased nuchal translucency, Redundant neck skin, Nonimmune hydrops fetalis, Palmoplantar cutis...	OMIM:605275
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hematochezia, Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Pulmonary arteriov...	OMIM:175050
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Pallor, Splenomegaly	ORPHA:98849
Multiple Endocrine Neoplasia Type 2	Ganglioneuromatosis, Pallor, Aganglionic megacolon, Neoplasm of the liver, Hypercalcemia	ORPHA:653
Histiocytoid Cardiomyopathy	Pulmonary edema, Optic atrophy, Pallor, Hepatomegaly	ORPHA:137675
Congenital Erythropoietic Porphyria	Abnormal circulating porphyrin concentration, Splenomegaly, Reduced haptoglobin level, Nonimmune ...	ORPHA:79277
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Nonimmune hydrops fetalis, Lymphedema	ORPHA:137667
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Pituitary Apoplexy	Hyponatremia, Pallor	ORPHA:95613
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Hepatoerythropoietic Porphyria	Abnormal circulating porphyrin concentration, Splenomegaly, Nonimmune hydrops fetalis, Abnormalit...	ORPHA:95159
Degcags Syndrome	Cholestasis, Intrauterine growth retardation, Hyperbilirubinemia, Pallor, Hepatosplenomegaly, Hep...	OMIM:619488
Von Hippel-Lindau Disease	Macular edema, Pallor, Pancreatic islet cell adenoma, Papilledema, Pancreatic cysts, Neoplasm of ...	ORPHA:892
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit...	ORPHA:64744
Cardiospondylocarpofacial Syndrome	Decreased testicular size, Gastroesophageal reflux, Congenital diaphragmatic hernia	OMIM:157800
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Pallor, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hepatomegaly	ORPHA:667
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Ascites, Peripheral edema, Splenomegaly, Hepatomegaly, Pedal edema	ORPHA:75565
Aregenerative Anemia	Pallor	ORPHA:101096
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Pallister-Killian Syndrome	Bifid uvula, Anal stenosis, Camptodactyly of 2nd-5th fingers, Anteriorly placed anus, Supernumera...	OMIM:601803
Witteveen-Kolk Syndrome	High, narrow palate, Gastroesophageal reflux, Decreased response to growth hormone stimulation te...	OMIM:613406
Fanconi Anemia, Complementation Group D2	Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Tracheoesophageal fist...	OMIM:227646
Yellow Fever	Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Leukocytos...	ORPHA:99829
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Incontinentia Pigmenti	Optic atrophy, Pallor, Erythema	OMIM:308300
Williams Syndrome	Cholelithiasis, Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Peptic ulcer, Colo...	ORPHA:904
Yunis-Varon Syndrome	Polyhydramnios, Hydrops fetalis, Redundant neck skin, Increased nuchal translucency	ORPHA:3472
Generalized Arterial Calcification Of Infancy	Fetal distress, Ascites, Hypophosphatemic rickets, Pancreatic calcification, Hepatic calcificatio...	ORPHA:51608
Esophageal Atresia	Polyhydramnios, Absence of stomach bubble on fetal sonography, Pallor	ORPHA:1199
Prolactinoma	Pallor	ORPHA:2965
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Erythema	OMIM:614748
Cardiac Valvular Dysplasia 1	Hydrops fetalis, Edema	OMIM:212093
Diamond-Blackfan Anemia	Pallor, Nonimmune hydrops fetalis	ORPHA:124
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal lung lobation, Adrenal gland dysgenesis, Agenesis of the diaphragm, Om...	OMIM:236680
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop...	OMIM:164280
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Pericardial effusion, Pallor	ORPHA:91347
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Pallor, Premature birth	OMIM:105650
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Anemic pallor	OMIM:227645
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, Congenital h...	ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Pallor, Elevated circulating creatine kinase concentration	OMIM:253280
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Peters-Plus Syndrome	Anteriorly placed anus, Umbilical hernia, Diastasis recti, Cryptorchidism, Biliary tract abnormal...	OMIM:261540
Fanconi Anemia, Complementation Group E	Anemic pallor	OMIM:600901
Chilton-Okur-Chung Neurodevelopmental Syndrome	Aplasia of the right hemidiaphragm, Ankyloglossia, Cryptorchidism, Limb hypertonia, Anterior pitu...	OMIM:619841
Fanconi Anemia, Complementation Group A	Anemic pallor	OMIM:227650
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Anasa...	ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hydrops fetalis, Congenital hepatic fibrosis	ORPHA:93271
Yunis-Varon Syndrome	Intrauterine growth retardation, Redundant neck skin, Polyhydramnios, Hydrops fetalis, Premature ...	OMIM:216340
Goodpasture Syndrome	Pallor, Increased blood urea nitrogen	OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Low 5-minute APGAR score, Low 1-minute APGAR score, Pallor	ORPHA:99125

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hlx

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hlx.

No publications found that use IMPC mice or data for Hlx.

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MGI Allele	Allele Type	Produced
Hlx^{tm97317(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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