Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
H2.0-like homeobox
Synonyms:
Hlx1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hlx mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Death in infancy, Intrauterine growth retardation, Ascites, Cir... OMIM:617156
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... OMIM:615710
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Intestinal malrotation, Jejunal atresi... OMIM:601346
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Nonimmune hydrops fetalis, Intrauterine gr... OMIM:231100
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Optic disc pallor, Degenerative liver disease... OMIM:268040
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Pentalogy Of Cantrell
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Absent gallbladder, Pulmonary hypopla... ORPHA:1335
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Ascites ORPHA:295
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... ORPHA:210122
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Nephrotic Syndrome, Type 2
Edema, Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Preeclampsia, Polyhydramnios, Splenomegaly, Oligohydramnios, Pallor, Hydrops fetalis ORPHA:163596
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Omphalocele, Congenital diaphragmatic hernia, Intestinal malrotation, Abnorma... OMIM:601163
Matthew-Wood Syndrome
Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Congenital diaphragmatic... ORPHA:2470
Congenital Lethal Erythroderma
Dry skin, Death in infancy, Hypoalbuminemia ORPHA:1954
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Edema, H... OMIM:616000
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Erythroderma, Lethal Congenital
Death in infancy, Hypoalbuminemia OMIM:227090
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Nephrotic Syndrome, Type 9
Edema, Hypoalbuminemia OMIM:615573
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Edema, Cirrhosis, Hepatosplenomegaly, Increased ser... ORPHA:101028
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Glycogen Storage Disease Xii
Myopathy, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic he... OMIM:611881
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Redundant neck skin, Intrauterine growth retardation, Neonatal death, ... OMIM:619003
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Intrauterine growth retardation, Splen... OMIM:608540
Glycogen Storage Disease Vii
Increased muscle glycogen content, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-dipho... OMIM:232800
Focal Segmental Glomerulosclerosis 1
Edema, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Abnormal lung lobation, Splenogonadal fusion, Inte... OMIM:156810
Cardiomyopathy, Familial Restrictive, 6
Death in infancy, Hepatomegaly, Hydrops fetalis, Ascites OMIM:619433
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis OMIM:619340
Retinitis Pigmentosa 42
Pallor OMIM:612943
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... ORPHA:309108
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Hydrops fetalis, Splenomegaly OMIM:613673
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Nonimmune hydrops fetalis, Ascites, Hyperammonemia, Cirrhosis, Elevated circula... OMIM:617049
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Intes... ORPHA:2140
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Focal Segmental Glomerulosclerosis 6
Edema, Hypoalbuminemia OMIM:614131
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Pancreatic hypoplasia, Congenital diaphragmatic hernia, Aplasia of the left he... OMIM:600001
Optic Atrophy 9
Optic atrophy, Pallor OMIM:616289
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Ascites, Premature birth, Polyhydramnios, Hydrops fetalis ORPHA:2123
Retinitis Pigmentosa 81
Pallor OMIM:617871
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Ascites, Fetal akinesia sequence, Polyhydramnios, Cirrho... ORPHA:367
Peripheral Cone Dystrophy
Optic atrophy, Pallor, Optic disc pallor OMIM:609021
Beta-Thalassemia
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcytic an... ORPHA:848
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Microcytic anemia, Cholelithiasis ORPHA:79278
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Edema, Abnormal circulating protein concentrat... ORPHA:103910
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary hypoplasia OMIM:615524
Dysplastic Cortical Hyperostosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism DECIPHER:39
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Omphalocele, Aplasia/Hypoplasia of the lungs, Abnormal intestine morph... ORPHA:1834
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Intrauterine growth retardation, Ascites, Decreased fetal movement, Decreased liver... OMIM:608104
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:182900
Achondrogenesis, Type Ib
Edema, Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis OMIM:600972
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Chondrodysplasia, Blomstrand Type
Premature birth, Stillbirth, Hydrops fetalis, Polyhydramnios OMIM:215045
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Cleft palate, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia OMIM:614294
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Opitz Gbbb Syndrome, Type Ii
Dysphagia, Cleft palate, High palate, Inguinal hernia, Bifid uvula, Absent gallbladder, Anal atre... OMIM:145410
Retinitis Pigmentosa 60
Pallor OMIM:613983
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Premature birth, Splenomegaly, Conjugated hyperbilirubinemia, Death in chi... OMIM:269920
Glycogen Storage Disease Iv
Ascites, Edema, Decreased fetal movement, Polyhydramnios, Cirrhosis, Hepatosplenomegaly, Hepatic ... OMIM:232500
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Death in infancy, Fetal akinesia sequence, Neonatal deat... ORPHA:85212
Nephrotic Syndrome, Type 6
Edema, Hypoalbuminemia OMIM:614196
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... ORPHA:766
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Triosephosphate Isomerase Deficiency
Myopathy, Skeletal muscle atrophy, Normocytic anemia, Normochromic anemia, Cholelithiasis, Spleno... OMIM:615512
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Intrauterine growth retardation, Unconjugated hyperbilirubinemia, Chol... OMIM:266200
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Hepatic failure OMIM:177000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele ORPHA:2141
Congenital Enterovirus Infection
Fetal ascites, Fetal distress, Pericardial effusion, Premature birth, Decreased fetal movement, H... ORPHA:292
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... ORPHA:65682
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Nonimmune hydrops fetalis, Intrauterine growth retardation, Elevated circulatin... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Nonimmune hydrops fetalis, Intrauterine growth retardation, Elevated circulatin... OMIM:618839
Beta-Thalassemia Intermedia
Hepatomegaly, Hypoparathyroidism, Leukocytosis, Elevated hepatic iron concentration, Hepatocellul... ORPHA:231222
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hepatoportal Sclerosis
Ascites, Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Premature birth, Edema, Spontaneous abortion, Facial edema, Hype... ORPHA:86816
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Pallor, Hepatomegaly, Splenomegaly OMIM:615234
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Elliptocytosis, Poikil... ORPHA:288
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Malabsorption ORPHA:99811
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Edema, Decreased liver function, Hypoalbuminemia, Portal hyperten... ORPHA:79319
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Retinitis Pigmentosa 70
Optic disc pallor, Pallor OMIM:615922
Nephrotic Syndrome, Type 3
Edema, Hypoalbuminemia OMIM:610725
Leishmaniasis
Hepatomegaly, Splenomegaly, Hypoalbuminemia, Elevated hepatic transaminase, Pallor, Skin ulcer ORPHA:507
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Oligohydramnios, Hypertriglyceridemia, Hypoalbuminemia, El... OMIM:619013
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Flexion contracture ORPHA:171719
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Pallor OMIM:617717
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... ORPHA:2258
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Indomethacin Embryofetopathy
Premature birth, Oligohydramnios, Hydrops fetalis ORPHA:1909
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Abnormal lung lobation, Congenital diaphragmatic hernia, Flexion contracture, Pulmon... OMIM:263210
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cleft palate, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the pulmonary artery ORPHA:1166
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, ... ORPHA:3032
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Hamartoma of tongue, Neonatal death, Absent gallbladder, Anal atresia, Esophageal d... OMIM:617925
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Edema, Hypoalbuminemia OMIM:600351
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the gallbladder, Pu... ORPHA:2255
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hypoalbuminemia OMIM:602579
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Pallor, Splenomegaly ORPHA:75563
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:261102
Dextrocardia
Abnormality of the spleen, Abnormal pulmonary situs morphology, Meckel diverticulum, Pancreatic h... ORPHA:1666
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Alg8-Cdg
Hyponatremia, Optic atrophy, Cutis laxa, Intrauterine growth retardation, Ascites, Premature birt... ORPHA:79325
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Anemia, Malabsorption, Splenomegaly, Premature ... ORPHA:100025
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Nephrotic Syndrome, Type 8
Edema, Hypoalbuminemia OMIM:615244
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly, Pedal edema, Hydrops fetalis ORPHA:87876
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... ORPHA:822
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cleft palate, Anemia, Absent gallbladder, Thrombocytopenia, Cryptorchidism ORPHA:163979
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Morphological abnormality of the gastrointestinal tract, Congenital diaphrag... ORPHA:2847
Tonne-Kalscheuer Syndrome
Dysphagia, Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Cryptorchidism, Pulmona... OMIM:300978
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Biliary tract obstruction, ... ORPHA:69663
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Pancytopenia, Acute myeloid leukemia, ... ORPHA:811
1Q41Q42 Microdeletion Syndrome
Cleft palate, Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Cryptorchid... ORPHA:250999
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Ascites, Splenomegaly, Pleural effusion, Hydrops fetalis ORPHA:2414
Trisomy 10P
Decreased muscle mass, Dysphagia, High palate, Rectovaginal fistula, Flexion contracture of thumb... ORPHA:171929
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital diaphragmatic hernia, Anal at... ORPHA:2063
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Camptodactyly of finger, Jaundice OMIM:214980
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hepatocellular carcinoma, Elevated circulating creatine kinase concentration... ORPHA:88618
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Distal Trisomy 5Q
Aplasia/Hypoplasia of the gallbladder, Hernia, Cryptorchidism ORPHA:96097
Vacterl/Vater Association
Omphalocele, Aplasia/Hypoplasia of the lungs, Abnormality of the gallbladder, Cleft palate, Conge... ORPHA:887
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Esophageal varix, ... ORPHA:53035
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, High palate, Absent gallbladder ORPHA:556955
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Hyperbiliverdinemia
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Alg6-Cdg
Decreased LDL cholesterol concentration, Jaundice, Abnormality of the liver, Hypoalbuminemia ORPHA:79320
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate OMIM:612530
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Schisis Association
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Anal atresia, Tracheoesophageal fistula ORPHA:63862
Genitopalatocardiac Syndrome
Cleft palate, Abnormality of the gallbladder, Abnormality of mesentery morphology, Congenital dia... ORPHA:2075
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Isolated Anencephaly
Congenital diaphragmatic hernia, Thymus hyperplasia, Omphalocele ORPHA:563609
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Ascites, Hepatocellular carcinoma, A... ORPHA:186
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Malabsorpt... OMIM:602347
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Contractures of the large joints, Cry... ORPHA:96092
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Trisomy 8P
Cleft palate, Peripheral pulmonary artery stenosis, Annular pancreas, Abnormal lung lobation, Apl... ORPHA:264450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Jau... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Twin-to-twin transfusion, Spontaneous a... ORPHA:1041
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia ORPHA:36
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, High palate, Congenital diaphragmatic hernia, Polycystic ovaries, Recurrent upper... ORPHA:284180
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Ascites, Edema, Hypoalbuminemia, Generalized edema OMIM:226300
Non-Syndromic Posterior Hypospadias
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Cry... ORPHA:95706
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Optic atrophy, Intrauterine growth retardation, Pericardial effusion, Ascites, Hepa... OMIM:619487
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Premature birth, Nonimmune hydrops fetalis, I... OMIM:618838
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Malrotation of small bowel ORPHA:139466
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Facial palsy, Splenomegaly, Thrombocytopenia OMIM:615085
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Glutamate-Cysteine Ligase Deficiency
Myopathy, Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice ORPHA:33574
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Granulocytopenia, Macrocytic anemia OMIM:606164
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Edema, Hypercholesterolemia, Hypertriglyce... ORPHA:567548
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasi... ORPHA:567983
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Genetic Steroid-Resistant Nephrotic Syndrome
Edema, Periorbital edema, Peritonitis, Hypoalbuminemia ORPHA:656
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Peutz-Jeghers Syndrome
Neoplasm of the lung, Abnormality of the gallbladder, Rectal prolapse, Stomach cancer, Gastrointe... ORPHA:2869
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice OMIM:605479
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... ORPHA:158061
Primary Lateral Sclerosis, Juvenile
Pallor, Abnormal upper motor neuron morphology OMIM:606353
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia, Ulcerative colitis OMIM:619398
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Intestinal malrotation, Umbilical hernia, Omphalocele ORPHA:2143
Steinfeld Syndrome
Median cleft lip and palate, Bifid uvula, Absent gallbladder OMIM:184705
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hepatomegaly, Petechiae, Splenomegaly, Decreased liver function, Increased circulatin... ORPHA:540
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circulating acylcarn... OMIM:609015
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Ascites, Hyperbilirubinemia, Hyperammonemia, Abnormality of the liver... ORPHA:1667
Zttk Syndrome
High palate, Bifid uvula, Absent gallbladder, Unilateral lung agenesis, Flexion contracture, Inte... OMIM:617140
Pancreatic And Cerebellar Agenesis
Anemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue OMIM:609069
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Abnormal ... OMIM:613101
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Maternal diabetes, Fetal distress ORPHA:45452
Craniofacioskeletal Syndrome
Cryptorchidism, Cleft palate, Absent gallbladder OMIM:300712
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia OMIM:260370
Nephrotic Syndrome, Type 1
Hypoproteinemia, Edema, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Diffuse pancreatic islet hyperplasia, Increased C-peptide level,... ORPHA:276580
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema OMIM:617300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Edema, Increased total bilirubin, Splenomegaly, Incr... OMIM:603553
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Maternal diabetes, Decreased circulating free fatty acid level, Increased C-peptide... ORPHA:324575
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Abnormality of the abdominal organs, Cleft palate, Midgut ... ORPHA:2409
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Pericardial effusion, Ascites, Edema, Hypocalcemia, Hypomagnese... ORPHA:90362
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly, Skin ulcer, Hydrops fetalis ORPHA:834
Leber Congenital Amaurosis 14
Optic disc pallor, Pallor OMIM:613341
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Hydrops fetalis, Splenomegaly OMIM:224120
Achondrogenesis, Type Ii
Edema, Hydrops fetalis, Stillbirth, Polyhydramnios OMIM:200610
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Diamond-Blackfan Anemia 10
Macrocytic anemia, Cleft palate, Congenital diaphragmatic hernia, Anemia, Reticulocytopenia OMIM:613309
Emanuel Syndrome
Cleft palate, High palate, Congenital diaphragmatic hernia, Anal atresia, Recurrent respiratory i... OMIM:609029
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia, Decreased... ORPHA:276575
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, ... ORPHA:456312
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Decreased circulating free fatty acid level, ... ORPHA:276556
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Jaundice OMIM:603552
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Mulibrey Nanism
Hepatomegaly, Ascites, Intrauterine growth retardation, Hydrops fetalis OMIM:253250
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Pallor, Optic disc pallor OMIM:612989
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Breath-Holding Spells
Pallor OMIM:607578
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor ORPHA:209981
Minicore Myopathy With External Ophthalmoplegia
Decreased fetal movement, Facial palsy, Hydrops fetalis, Polyhydramnios OMIM:255320
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Hypocalcemia, Hypomagnesem... OMIM:618183
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Congenital diaphragmatic hernia, Pneumothorax, Intestinal malrotation, Anal atresia,... OMIM:617602
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Steatorrhea, Anemia of inadequate production, Exocrine pancre... OMIM:612714
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Perlman Syndrome
Congenital diaphragmatic hernia, Volvulus, Distal ileal atresia, Pancreatic islet-cell hyperplasi... OMIM:267000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Eosinophilic Gastroenteritis
Edema, Elevated circulating C-reactive protein concentration, Ascites, Hypoalbuminemia ORPHA:2070
Campomelia, Cumming Type
Hepatomegaly, Death in infancy, Pancreatic cysts, Abnormality of the pancreas, Oligohydramnios, H... ORPHA:1318
Tetrasomy 9P
Cleft palate, High palate, Myositis, Median cleft lip and palate, Abnormal dental enamel morpholo... ORPHA:3310
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Generalized amyotrophy, Splenomegaly,... ORPHA:171
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Elevated hepatic transaminase, R... ORPHA:79095
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis OMIM:618052
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Neuraminidase Deficiency
Hepatomegaly, Ascites, Facial edema, Splenomegaly, Hydrops fetalis OMIM:256550
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Recurrent respiratory infections, Camptodactyly ORPHA:412035
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Polyhydramnios ORPHA:3405
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder ORPHA:3186
Cebalid Syndrome
Congenital diaphragmatic hernia, High palate OMIM:618774
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Edema, Splenomegaly, Pallor, Periorbital edema ORPHA:3386
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia OMIM:209950
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Inguinal hernia, Diaphragmatic eventration, Multilobulated splee... OMIM:601186
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Leigh Syndrome With Nephrotic Syndrome
Intrauterine growth retardation, Oligohydramnios, Generalized edema, Hypoalbuminemia ORPHA:255249
Emanuel Syndrome
Dysphagia, Cleft palate, High palate, Ectopic anus, Congenital diaphragmatic hernia, Bifid uvula,... ORPHA:96170
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Umbilical hernia, Camptodactyly of finger, Anteriorly placed anus ORPHA:1488
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Nonimmune hydrops fetalis, Pericardial effusion, Hepatic fibrosis, Hypocholesterole... OMIM:212065
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Anemia, Cirrhosis, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Myeloid... OMIM:614742
Retinitis Pigmentosa 73
Pallor OMIM:616544
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Flexion contracture of toe, Retroperitoneal fibrosis, Cardio... OMIM:602782
Fryns Syndrome
Omphalocele, Cleft palate, High palate, Duodenal atresia, Aganglionic megacolon, Ectopic anus, Co... ORPHA:2059
Alg1-Cdg
Decreased liver function, Hypoalbuminemia ORPHA:79327
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Facial palsy, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocyt... OMIM:611490
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Intrauterine growth retardation, Ascites, Petechiae, Pre... OMIM:608013
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, High palate, Camptodactyly of finger ORPHA:1520
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Cleft palate OMIM:301022
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hernia, Anal atresia, Cryptorchidism, Decreased response to grow... ORPHA:94065
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Hepatomegaly, B lymphocytopenia, Cleft palate, Pancreatic hypoplasia, Cholelith... ORPHA:83617
Al Amyloidosis
Hepatomegaly, Xerostomia, Abnormality of the liver, Increased circulating NT-proBNP concentration... ORPHA:85443
Myotonic Dystrophy 1
Facial diplegia, Dysphagia, Testicular atrophy, Cholelithiasis OMIM:160900
Mosaic Trisomy 1
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Hepatic agenesis, Camptodactyly of fi... ORPHA:1692
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Anemic pallor, Pedal edema, Abnormal circulating albu... ORPHA:86839
Klippel-Trénaunay Syndrome
Hepatomegaly, Edema, Ascites, Hydrops fetalis ORPHA:90308
Nephrotic Syndrome, Type 14
Edema, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft palate, Congenital diaphragmatic hernia, Adrenal gland agenesis, Pulmonary artery stenosis,... OMIM:611812
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intrauterine growth retardation, Elevated circulating creatine kinase concentra... OMIM:619055
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Intrauterine growth retardat... OMIM:222470
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Ascites, Hyperlipidemia, Edema, Anasarca, Facial edema, Palpebral edema, Hypoalbuminemia, Pedal e... ORPHA:567546
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Ascites, Palpebral edema, Pleural effusion, Hydrops fetalis, Predominantly lower limb lymphedema ORPHA:69735
Wolman Disease
Hepatomegaly, Esophageal varix, Bone-marrow foam cells, Anemia, Splenomegaly, Steatorrhea, Hepati... ORPHA:75233
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Dysphagia, Ragged-red muscle fibers, Gastrointestinal dysmotility, Anemia,... ORPHA:298
Ménétrier Disease
Hypoproteinemia, Peripheral edema, Hypoalbuminemia ORPHA:2494
Donnai-Barrow Syndrome
Omphalocele, Congenital diaphragmatic hernia, Intestinal malrotation, Diaphragmatic eventration, ... OMIM:222448
Lysosomal Acid Lipase Deficiency
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato... OMIM:278000
Ppoma
Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Neoplasm of the small intestine, Increase... ORPHA:97278
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pallor, Jaundice OMIM:613839
Mody
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Elevated hemoglobin A1c, Hepatocellular... ORPHA:552
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Abnormal spleen physiology, H... ORPHA:398063
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Grfoma
Hepatomegaly, Pheochromocytoma, Neoplasm of the lung, Zollinger-Ellison syndrome, Neoplasm of the... ORPHA:97261
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neoplasm of the rectum, Neopla... ORPHA:44890
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Hepatic steatosis OMIM:606069
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hyperammonemia, Hyperuricemia, Death in childhood, Decreased plasma carnitine, Pallor OMIM:246450
Sialuria
Hepatomegaly, High, narrow palate, Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase ORPHA:3166
Hepatocellular Carcinoma
Hypercalcemia, Hyponatremia, Hepatomegaly, Ascites, Hypokalemia, Hemobilia, Anasarca, Hepatic nec... ORPHA:88673
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia,... ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia,... ORPHA:529808
Czeizel-Losonci Syndrome
High palate, Hypoplastic nipples, Aplasia of the left hemidiaphragm, Tracheoesophageal fistula, P... ORPHA:2437
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Autosomal Recessive Spondylocostal Dysostosis
Cleft palate, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of finger, Anomalou... ORPHA:2311
Avian Influenza
Elevated circulating creatine kinase concentration, Hepatitis, Spontaneous abortion, Hypoalbumine... ORPHA:454836
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Ascites, Polyhydramnios, Single umbilical artery, Pleural effusi... OMIM:616897
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Facial hypotonia, Cholelithiasis, Furrowed tongue, Distal lower limb amyotrophy, Rec... OMIM:300534
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, E... ORPHA:90363
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Cronkhite-Canada Syndrome
Hepatomegaly, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption,... ORPHA:2930
Amoebiasis Due To Entamoeba Histolytica
Pleural empyema, Hypoalbuminemia, Elevated hepatic transaminase, Pleural effusion, Liver abscess ORPHA:67
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysphagia, Cleft palate, Gastrointestinal dysmotility, Bifid uvula, Absent gallbladder, Unilatera... ORPHA:500150
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Perlman Syndrome
Hepatomegaly, High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Inguinal hernia,... ORPHA:2849
Gm1-Gangliosidosis, Type I
Hepatomegaly, Death in infancy, Intrauterine growth retardation, Splenomegaly, Hydrops fetalis OMIM:230500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neoplasm of the lung, Neutropenia, Hepatocellular carcinoma, Elevat... ORPHA:158057
Bacterial Toxic-Shock Syndrome
Ecchymosis, Hypoalbuminemia, Peritonitis, Elevated circulating creatine kinase concentration, Ele... ORPHA:36234
Focal Dermal Hypoplasia
Omphalocele, Aplasia/Hypoplasia of the lungs, Duodenal atresia, Abnormality of the pulmonary vasc... ORPHA:2092
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Abnormal lung morp... ORPHA:54251
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Anomalo... ORPHA:1120
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Optic atrophy, Death in childhood, Splenomegaly, Macrovesicular hepatic steatosis, ... OMIM:617303
Intellectual Disability-Strabismus Syndrome
High palate, Congenital finger flexion contractures, Congenital diaphragmatic hernia, Achilles te... ORPHA:363528
Wilson Disease
Proximal muscle weakness in lower limbs, Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Spleno... ORPHA:905
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the pancreas, Abnormality of th... ORPHA:83469
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Increased total bilirubin, Splenomegaly ORPHA:90037
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic steatosis, Decrea... OMIM:618329
Arterial Tortuosity Syndrome
High palate, Congenital diaphragmatic hernia, Inguinal hernia, Hiatus hernia, Flexion contracture... OMIM:208050
Trisomy 13
Optic atrophy, Intrauterine growth retardation, Hydrops fetalis ORPHA:3378
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Inguinal hernia, Recurrent respiratory infections, Emphysema, Um... OMIM:219100
Hereditary Hemorrhagic Telangiectasia
Esophageal varix, Cholelithiasis, Cirrhosis, Gastrointestinal hemorrhage, Microcytic anemia, Inte... ORPHA:774
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormal intestine morphology, Desquamative interstitial pneumonitis, Interstitial pneumonitis, N... OMIM:615952
Multiple Pterygium Syndrome, Escobar Variant
Cleft palate, Bilateral camptodactyly, Hypoplastic nipples, Umbilical hernia, High palate, Congen... OMIM:265000
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Meacham Syndrome
Abnormality of the spleen, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital di... ORPHA:3097
Hemochromatosis, Type 3
Neutropenia, Anemia, Cirrhosis, Lymphopenia, Elevated hepatic transaminase OMIM:604250
Cystic Fibrosis
Hepatomegaly, Malabsorption, Recurrent respiratory infections, Pulmonary fibrosis, Exocrine pancr... ORPHA:586
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Cholelithiasis OMIM:618775
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Cholelithiasis, Malabsorption, Enamel hyp... OMIM:240300
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Arthrogryposis multiplex congenita, Cholestatic... ORPHA:440713
Beckwith-Wiedemann Syndrome
Omphalocele, Cleft palate, Splenomegaly, Diastasis recti, Umbilical hernia, Rhabdomyosarcoma, Pol... ORPHA:116
Acro-Renal-Mandibular Syndrome
High palate, Abnormal lung lobation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the t... ORPHA:958
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Abnormality of the liver, Intussusception, Int... OMIM:112200
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Abnormality of the... ORPHA:521219
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, High palate, Hepatic fibrosis, Macroglossia, Anemia, Bifid uvula, Cholestasis OMIM:266920
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cleft palate, High palate, Congenital diaphragmatic hernia, Anal atresia, Anal stenosis, Pulmonar... OMIM:614080
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Splenom... ORPHA:131
2Q37 Microdeletion Syndrome
Pyloric stenosis, Congenital diaphragmatic hernia, Umbilical hernia, Supernumerary nipple ORPHA:1001
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Elevated ci... OMIM:619662
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferritin concentration, Hy... OMIM:619313
Senior-Loken Syndrome 8
Hepatic cysts, Pallor, Pancreatic cysts OMIM:616307
Achondrogenesis, Type Ia
Stillbirth, Hydrops fetalis, Polyhydramnios OMIM:200600
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Fetal polyuria, Hypokalemia, Premature birth, Edema, Hypochloremia, Polyhydramnios,... OMIM:602522
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Pallor OMIM:600462
Evans Syndrome
Pallor, Petechiae, Jaundice ORPHA:1959
Pagod Syndrome
Abnormality of the spleen, Omphalocele, Congenital diaphragmatic hernia, Pulmonary artery hypopla... ORPHA:991
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Pallor ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:27
Trichohepatoneurodevelopmental Syndrome
Distal arthrogryposis, Hepatomegaly, High palate, Hypoplastic nipples, Macroglossia, Cholelithias... OMIM:618268
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Trisomy 1Q
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Anal atresia, Camptodactyly of finger... ORPHA:261344
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Primary Myelofibrosis
Ecchymosis, Portal hypertension, Hepatomegaly, Petechiae, Splenomegaly, Hepatosplenomegaly, Purpu... ORPHA:824
Porphyria, Congenital Erythropoietic
Corneal scarring, Cholelithiasis, Joint contracture of the hand, Splenomegaly, Atypical scarring ... OMIM:263700
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Elevated hepatic iron concentration, Incr... ORPHA:300298
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Myelofibrosis
Pallor, Purpura, Splenomegaly OMIM:254450
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Oligohydramnios, Intrauterine growth retardation, Hydrops fetalis OMIM:617022
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Pallor, Splenomegaly, Lymphedema ORPHA:3226
Mucopolysaccharidosis Type 7
Ascites, Hepatitis, Splenomegaly, Hydrops fetalis, Lymphedema ORPHA:584
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Abnormal circulating fatty-acid concentration, ... ORPHA:263455
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cleft palate, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Umbilical hernia,... OMIM:618454
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Alg12-Cdg
Hyponatremia, Intrauterine growth retardation, Hypocholesterolemia, Premature birth, Edema, Polyh... ORPHA:79324
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... ORPHA:512
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor, Hypokalemia OMIM:611590
Cornelia De Lange Syndrome 1
Pyloric stenosis, High, narrow palate, Cleft palate, Hypoplastic nipples, High palate, Pneumonia,... OMIM:122470
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Pneumonia, Hypoplasia of the thymus, Anemia, Splenomegaly, Sever... OMIM:603554
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Hepatomegaly, Dysphagia, Abnormal lymphocyte morphology, Anemia, Splenome... ORPHA:100026
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Congenital diaphragmatic hernia, Cryptorchidism, High palate ORPHA:251071
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Premature birth, Edema, Splenomegaly, Decreased liver function, Purpura,... ORPHA:90051
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1647
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood, Sple... OMIM:300908
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Palpebral edema, Predominantly lower limb lymphedema OMIM:607823
Thoracoabdominal Syndrome
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Ventral hernia, Pulmonary hypoplasia OMIM:313850
Duodenal Atresia
Abnormality of the pancreas, Abnormality of the pulmonary artery, Duodenal atresia, Annular pancreas ORPHA:1203
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Halperin-Birk Syndrome
High palate, Pseudobulbar paralysis, Congenital diaphragmatic hernia, Inguinal hernia, Flexion co... OMIM:618651
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Cleft palate, Hi... ORPHA:373
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Elevated hepatic transaminase, Pallor, Increased total ... ORPHA:98870
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Cleft palate ORPHA:1915
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Congenital diaphragmatic hernia, Cleft palate, Gastroesophageal reflux ORPHA:261197
Galloway-Mowat Syndrome 3
Edema, Oligohydramnios, Intrauterine growth retardation, Hypoalbuminemia OMIM:617729
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Omphalocele, Hypoplastic colon, Hepatic fibrosis, Enlarged kidney, Hypoplasia of th... OMIM:200995
Meacham Syndrome
Neonatal death, Aplasia of the left hemidiaphragm, Stillbirth, Cardiac total anomalous pulmonary ... OMIM:608978
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Portal fibrosis, Hepatic fibrosis, Esophageal varix, Incre... ORPHA:264580
Thakker-Donnai Syndrome
Rectovaginal fistula, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Anal atresia ORPHA:1780
Fetal Encasement Syndrome
Omphalocele, Aplasia of the sweat glands, Congenital diaphragmatic hernia, Protruding tongue, Bil... OMIM:613630
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... ORPHA:14
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Intrauterine growth retardation, Ascites, Bile duct proliferatio... OMIM:613658
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly, Cholelithiasis OMIM:619273
Mosaic Trisomy 9
Intrauterine growth retardation, Asplenia, Polyhydramnios, Abnormal liver lobulation, Single umbi... ORPHA:99776
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Anemia, Malabsorption, Abnormality of the pancreas, Lymphopenia, Recurrent... ORPHA:935
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Gm1 Gangliosidosis
Optic atrophy, Premature birth, Splenomegaly, Hepatosplenomegaly, Hydrops fetalis ORPHA:354
Alveolar Echinococcosis
Cholangitis, Eosinophilia, Abnormal skeletal muscle morphology, Pancreatic cysts, Abnormality of ... ORPHA:284
Farber Disease
Hepatic fibrosis, Ascites, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, H... ORPHA:333
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormality of th... ORPHA:398124
Non-Functioning Paraganglioma
Hypercalcemia, Pallor, Cranial nerve compression ORPHA:94080
Trisomy 18
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Hernia, Esophageal atresia, Anal atre... ORPHA:3380
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... OMIM:613011
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Mel... ORPHA:480520
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele, Anal atresia ORPHA:63260
Holoprosencephaly
Abnormality of the spleen, Omphalocele, Aplasia/Hypoplasia of the lungs, Median cleft lip and pal... ORPHA:2162
Opitz Gbbb Syndrome
Omphalocele, Dysphagia, Cleft palate, Recurrent aspiration pneumonia, High palate, Ectopic anus, ... ORPHA:2745
Seckel Syndrome 9
Congenital diaphragmatic hernia, Recurrent respiratory infections, Pulmonary artery hypoplasia OMIM:616777
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial effusion, Hypoalbuminemia, Pleural effusion, Periorbital edema, Lymphedema OMIM:235510
Fryns Syndrome
Ectopic pancreatic tissue, Omphalocele, Cleft palate, Aganglionic megacolon, Duodenal atresia, Me... OMIM:229850
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Pulmonary hypoplasia, Esophageal varix, Hepatic cysts, Neonatal d... OMIM:263200
Myopathic Ehlers-Danlos Syndrome
Pallor, Mildly elevated creatine kinase ORPHA:536516
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure OMIM:614886
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:616649
White-Sutton Syndrome
High palate, Congenital diaphragmatic hernia, Facial hypotonia, Abnormality of the gastrointestin... ORPHA:468678
Felty Syndrome
Hepatomegaly, Neutropenia, Cellulitis, Abnormal lymphocyte morphology, Anemia, Pleuritis, Splenom... ORPHA:47612
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia, Cholestasis, Hepatic failure, Pallor OMIM:606812
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Recurrent aspiration pneumonia, Elevated hepatic transaminase, T lymphocytopenia, A... ORPHA:79124
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Nonimmune hydrops fetalis, Neonatal death, Stillbirth, Polyh... OMIM:215140
Interstitial Lung And Liver Disease
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Anemia, Cirrhosis, Hepatic steatosis, Elevated ci... OMIM:615486
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
X-Linked Agammaglobulinemia
Neutropenia, Hepatitis, Anemia, Malabsorption, Glossoptosis, Recurrent pneumonia, Abnormal lung m... ORPHA:47
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Hepatic steatosis, Ele... ORPHA:348
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Stomatocytosis, Acanthocytosis, Splenomegaly, Elliptocytosis, Reticulocytosis, ... OMIM:109270
Lathosterolosis
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, High palate, Elevated hepati... OMIM:607330
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Refractory sideroblastic anemia, Malabsorption OMIM:557000
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Malabsorption, Abnormal mast cell ... ORPHA:98850
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Cutis laxa, Portal fibrosis, Bile duct proliferation, Hyperbilirubinem... OMIM:613610
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Isolated Permanent Neonatal Diabetes Mellitus
Contractures of the joints of the lower limbs, Pancreatic hypoplasia, Arthrogryposis multiplex co... ORPHA:99885
Pearson Syndrome
Hepatomegaly, Hypokalemia, Corneal stromal edema, Macronodular cirrhosis, Hypophosphatemia, Hypop... ORPHA:699
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Hyperuricemia, Hyperammonemia, Pallor, Dehydration ORPHA:134
Generalized Pseudohypoaldosteronism Type 1
Recurrent upper and lower respiratory tract infections, Cholelithiasis ORPHA:171876
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypomethioninemia, Optic atrophy, Methylmalonic acidemia, Intrauterine growt... ORPHA:79282
Craniofrontonasal Syndrome
Cleft palate, Congenital diaphragmatic hernia, Unilateral breast hypoplasia, Cryptorchidism, Brea... OMIM:304110
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Increased total bilirubin ORPHA:90036
Shwachman-Diamond Syndrome 2
Hepatomegaly, High palate, Normocytic anemia, Neutropenia, Thrombocytopenia, Hyperechogenic pancr... OMIM:617941
Ring Chromosome 13 Syndrome
High palate, Hypoplasia of the gallbladder, Anal atresia ORPHA:96176
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Villous atrophy, Portal fibrosis, Hepatic fibrosis, Ileoileal i... OMIM:619377
Wolf-Hirschhorn Syndrome
Abdominal situs inversus, Abnormality of the gallbladder, Aplasia/Hypoplasia of the lungs, Cleft ... ORPHA:280
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Hepatic fibrosis, Hepatocel... ORPHA:79240
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Villous atrophy, Coombs-positive hemolytic anemia, Hepatitis, Anemia, Autoimmune thr... OMIM:304790
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Cleft palate, Abnormality of the gallbladder, Aganglionic megacolon, Abnormal l... ORPHA:818
Meckel Syndrome, Type 3