Gene Summary

Name:
jumonji, AT rich interactive domain 2
Synonyms:
jumonji,  Jmj

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating magnesium level Jarid2tm1a(KOMP)Wtsi HET Early adult 9.68×10-06
increased circulating creatinine level Jarid2tm1a(KOMP)Wtsi HET Early adult 3.50×10-05

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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.

Legacy Phenotype Associated Images

View all 135 images

Human diseases caused by Jarid2 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.

The table below shows human diseases associated to Jarid2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Specific Syndromic Intellectual Disability
Prominent fingertip pads, Down-sloping shoulders, Short hallux, Broad hallux, Broad thumb, Pulmon... ORPHA:528084

The table below shows human diseases predicted to be associated to Jarid2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Azotemia, Familial
Azotemia OMIM:109160
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Death in childhood, Respiratory in... OMIM:253300
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bun... OMIM:115197
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Pulmonary venous hypertension, Pulmonary e... ORPHA:75249
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... ORPHA:99106
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Lipedema
Edema OMIM:614103
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Bronchiecta... OMIM:618254
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Pulmonary edema, Left ventricular hypertrophy, Left... ORPHA:57777
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... OMIM:231100
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Stroke, Systol... ORPHA:99103
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Edema, Hypertension, Thrombocytopenia, Intrauterine growth retarda... OMIM:189800
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holosystolic murmur... ORPHA:1677
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Anomalous pulmonary venous return, Stroke, ... ORPHA:99104
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Brachydactyly, Syndac... OMIM:616028
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Respiratory insufficiency, Hypertension ORPHA:3188
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Syndactyly, Neonatal death, Ventricular septal defect, Hypoplasia of t... OMIM:228940
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Reduced vital capacity, EMG: myopathic abnormalities, Res... ORPHA:266
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... OMIM:208081
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal rib m... ORPHA:1354
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Death in infancy, Hypertrophic cardiomyopathy, Respiratory fail... OMIM:616277
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot OMIM:601348
Carcinoid Syndrome
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Tricuspid regurgitation, Carcinoid... ORPHA:100093
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Camptodactyly of finger, Brachydactyly, Ventricular septal de... ORPHA:1937
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Diffuse alveolar hemorr... OMIM:614034
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Cardiogenic shock, Dilated cardiomyopathy, ... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... OMIM:613313
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Respiratory f... ORPHA:563
Indomethacin Embryofetopathy
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Ventricular septal defect, Olig... ORPHA:1909
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Respiratory failure, Arthrogry... OMIM:607598
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right atrial enlargement, Reduced FEV1/FVC ratio, Abnormal T-wave, Reduced vital c... ORPHA:70591
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... OMIM:615631
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Polyhydramnios, Death in infancy, Fa... OMIM:615348
Asbestos Intoxication
Myocardial fibrosis, Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonprodu... ORPHA:2302
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Short stature, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepat... OMIM:614480
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Dilated cardiomyopath... OMIM:231530
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... OMIM:616867
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Thin ribs, Flexion contracture, Hypertension, Mitral regurgitation, Ost... OMIM:614008
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... ORPHA:846
Retinitis Pigmentosa 59
Hepatomegaly, Cystoid macular edema, Elevated hepatic transaminase, Cryptorchidism, Intrauterine ... OMIM:613861
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Edema, Neutropenia, Anemia, Lymph... OMIM:603552
Transaldolase Deficiency
Telangiectasia, Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Biventricul... ORPHA:101028
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Anomalous pulmonary venous return, Ventricular septal de... ORPHA:185
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Budd-... ORPHA:88673
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, Hepatomegal... OMIM:300400
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, A... ORPHA:858
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... OMIM:618316
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy,... OMIM:614299
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochanters, Flared hume... OMIM:156530
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... OMIM:616860
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Increased variabilit... OMIM:616816
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hydrops fetalis, Pericarditis, Polyhydramnios, A... ORPHA:163596
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Flexion contracture, Hypertrophic cardiomyopathy, Camptodact... ORPHA:1194
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Intrauterine growth retardation, Hypoplastic spleen, Atrial septal defect ORPHA:89844
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Decreased acid sphingomyelinase activity, Splenomegaly, Sho... OMIM:607616
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Ventricular septal defect, Dilated cardiomyopathy, Sandal gap, In... ORPHA:2515
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Growth delay, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Respiratory insufficiency, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hyper... OMIM:617021
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septa... OMIM:614326
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... OMIM:616081
Congenital Atransferrinemia
Hypothyroidism, Anemia, Abnormality of the pancreas ORPHA:1195
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cholestasis,... OMIM:615415
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy, Epiphyseal stippling OMIM:614876
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... ORPHA:766
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cor pulmonale, Cough, Tachypnea, Respiratory failure OMIM:263000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Hepatic b... OMIM:613759
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Respiratory insufficiency due to muscle weakness, Congestive heart failur... OMIM:310200
Feingold Syndrome Type 2
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Toe syndac... ORPHA:391646
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Primary Ciliary Dyskinesia
Double outlet right ventricle, Airway obstruction, Anomalous pulmonary venous return, Wheezing, S... ORPHA:244
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Hydrops fetalis, Thrombocytopenia, Anemia, Ascites, Intrauterine gro... ORPHA:295
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... OMIM:605676
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnor... OMIM:276950
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circulating neopterin conc... ORPHA:1578
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Hematochezia, Ventricular septal defect, Pol... OMIM:243150
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... OMIM:214900
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Asthma, Overlapping toe, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular sept... OMIM:614262
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Corneal stromal edema, Hypoplas... ORPHA:699
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Clinodactyly of the 5th finger, Atrial septal defect, Joint contra... OMIM:179613
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Fetal Minoxidil Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:1918
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hyperinsulinemi... ORPHA:71212
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... ORPHA:860
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydacty... OMIM:617895
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Respiratory failure, Congestive heart failure, Ragged-red muscle fibers OMIM:616794
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Respiratory insufficiency, Fatty replacement of skeletal muscle, Ca... OMIM:255100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Holt-Oram Syndrome
Anomalous pulmonary venous return, Absent thumb, Atrioventricular canal defect, Down-sloping shou... ORPHA:392
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventrat... OMIM:614399
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Intrauterine growth retardation, Neonatal death, Congestive heart failure OMIM:301021
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure OMIM:613869
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:278000
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Mitochondrial Complex I Deficiency, Nuclear Type 22
Respiratory insufficiency, Hypertrophic cardiomyopathy, Intrauterine growth retardation OMIM:618243
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Congenital hip dislocation, Overlapping fingers, Arthrogryposis multiplex co... OMIM:618291
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hypoplasia of the capital femoral epiphysis, Hand muscle atrophy, Limb muscle weakness, Respirato... OMIM:600561
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Adducted thumb, Death in childhood, Increased variability in muscle fiber diamet... OMIM:619334
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... ORPHA:90117
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Mirage Syndrome
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism... OMIM:617053
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Camptod... ORPHA:1388
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Splenomegaly, Elevated circulating aspartate aminotransferase concen... OMIM:620010
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Arrhythmia, Rag... ORPHA:352447
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, R... OMIM:224120
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Polyhydramnios, Oligohydramnios, ... ORPHA:3032
Atransferrinemia
Congestive heart failure, Abnormality of the liver, Hypochromic anemia OMIM:209300
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Lymphopenia, Secundum atrial septal defect, Splenomegaly, Pulmonic stenosis, Crypto... OMIM:612541
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Pontocerebellar Hypoplasia, Type 4
Polyhydramnios, Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Hepatic failure, Aplastic anemia... ORPHA:398124
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Hip dysplasia, Neonatal death, Arthrogryposis multiplex congenita, Rocker bottom... OMIM:611890
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... OMIM:224100
16P13.11 Microduplication Syndrome
Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... ORPHA:261243
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Hypertrophic ca... OMIM:201475
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Central sleep apnea, Hypertrophic cardiomyopathy, Respiratory failure,... ORPHA:70472
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Syndromic Diarrhea
Bicuspid aortic valve, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Short stature, Ci... ORPHA:84064
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Pulmonic stenosis, Tetra... ORPHA:3304
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Hepatomegaly, Jaundice, Hypoplasia of the thymus, Palpebral edem... OMIM:214110
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... ORPHA:848
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Respiratory insufficiency, Patent ductus arteriosus, Hypertrophic cardiom... OMIM:616276
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Hepatic failure, Adrenal calcification, Bone-m... ORPHA:75233
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Respiratory insufficiency, Neonatal death, Coarctation of aor... OMIM:601612
Preeclampsia
Abnormality of the hepatic vasculature, Elevated systolic blood pressure, Elevated hepatic transa... ORPHA:275555
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... OMIM:614954
Transaldolase Deficiency
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... OMIM:606003
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Thrombocytopenia, Polyhydramnios, Patent ductus arteriosus, Anemia... ORPHA:2123
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Slender fi... ORPHA:75840
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... ORPHA:370968
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate aminotransferase concen... OMIM:619868
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... ORPHA:3426
Mmep Syndrome
Ventricular septal defect, Triphalangeal thumb, Split foot ORPHA:3434
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Respiratory insufficiency, Limb muscle weakness, Dyspnea, Global systolic dysfun... OMIM:606842
Tetralogy Of Fallot
Brachydactyly, Clinodactyly of the 5th finger, Intrauterine growth retardation, Tetralogy of Fallot ORPHA:3303
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... OMIM:619658
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Congenital Amegakaryocytic Thrombocytopenia
Abnormal cardiac septum morphology, Abnormal hemoglobin, Short stature, Anemia, Thrombocytopenia ORPHA:3319
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Myocardial fibrosis, Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenera... ORPHA:210136
Myopathy, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right bundle branch block, Scapuloperoneal amyotrophy, Muscle fiber hya... OMIM:255160
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Noonan Syndrome 12
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Proximal placem... OMIM:618624
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy OMIM:619386
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Hyperekplexia 4
Flexion contracture, Adducted thumb, Camptodactyly, Distal arthrogryposis, Umbilical hernia, Resp... OMIM:618011
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ... ORPHA:444013
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Arrhythmia, Diabetes mellitus, Anemia, Hepatic steatosis, Cardiomyopathy OMIM:606069
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Grange Syndrome
Syndactyly, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial s... ORPHA:79094
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, F... ORPHA:477817
Chromosome 16P13.3 Duplication Syndrome
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Camptodactyly, Ventricu... OMIM:613458
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Abnormal morphology of the radius, Atrial septal defect ORPHA:3469
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... OMIM:618654
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... OMIM:612954
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... ORPHA:132
Majeed Syndrome
Joint swelling, Decreased mean corpuscular volume, Anemia of inadequate production, Hepatosplenom... OMIM:609628
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia OMIM:300752
Congenital Rubella Syndrome
Intrauterine growth retardation, Hepatomegaly, Atrial septal defect, Splenomegaly, Short stature,... ORPHA:290
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Hypogonadotropic hypogonadism, Elevated hepatic transaminase, Neutropenia... OMIM:604250
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis, Edema, Hypertension OMIM:105200
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Gracile Bone Dysplasia
Ascites, Hypoplastic spleen, Asplenia, Short stature OMIM:602361
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Respiratory insufficiency, Tapered fing... OMIM:313420
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Respiratory failure, Short long bone, Intrauteri... ORPHA:1505
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia, Edema ORPHA:79278
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic b... OMIM:619902
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Ch... OMIM:617156
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocyt... OMIM:611490
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... ORPHA:254875
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... OMIM:615438
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly, Elevated hepatic transaminase, Growth delay, Hypertrophic car... OMIM:613561
Proximal Spinal Muscular Atrophy
Facial diplegia, Multiple joint contractures, Hip dislocation, Atrial septal defect, Flexion cont... ORPHA:70
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Toe syndactyly ORPHA:251076
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Arrhythmia, Increased circulating lactate dehydrogenase c... ORPHA:26791
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Chronic rhi... OMIM:608647
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia, Lymphadenopathy ORPHA:37748
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Dehydration, Neutropenia, Anemia, Thrombocytopenia, Car... ORPHA:79312
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent ductus a... OMIM:601005
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnormalities, Facia... ORPHA:98913
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, Hypovolemic shock, Camptodactyly of toe, 2-3 finger syndactyly, 4... ORPHA:158687
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cryptorchidism, Neonatal death, Cholestasis, Thrombocytop... OMIM:608104
Tracheal Agenesis
Polyhydramnios, Abnormal cardiac septum morphology, Respiratory insufficiency ORPHA:3346
Alg1-Cdg
Respiratory failure, Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Decreased hemoglobin... OMIM:266200
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Bile duct pro... OMIM:208540
Stormorken Syndrome
Short stature, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies OMIM:185070
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Atrioventricular canal defect, Congenital hip dislocation, Ventricular sept... OMIM:306955
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Thin ribs, Abnormality of the diaphragm, A... ORPHA:171430
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Dehydration, Hepatomegaly ORPHA:28
Microphthalmia, Syndromic 9
Atrial septal defect, Multilobulated spleen, Short stature, Pulmonic stenosis, Single ventricle, ... OMIM:601186
Wilson Disease
Joint swelling, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Th... ORPHA:905
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory insufficiency, Polyhydramnios, Arthrogryposis multip... OMIM:615330
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Ventricular septal defect, Polyhydramnios, Duplication of phala... OMIM:263630
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Acute Interstitial Pneumonia
Hypoxemia, Hypertension, Nonproductive cough, Crackles, Tachypnea, Decreased DLCO, Peripheral ede... ORPHA:79126
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Hypoplasia of the thymus, Peritoneal abscess, Ventricular septal... ORPHA:436252
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Thrombocytopenia, Biliary tract obstruction, P... ORPHA:77259
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Respiratory insufficiency, Tetralo... ORPHA:1166
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Increased vari... ORPHA:98905
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Muscular ventricular septal defect, Camptodactyly, Clinodactyly,... OMIM:618804
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Clinodactyly of the 5th finger, Patent ductus arteriosus OMIM:619717
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hepatosplenomegaly, Hypothyroidism, Elevated hepatic transaminase, Microcytic anem... OMIM:619013
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Posterior rib fusion, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:608406
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... OMIM:235200
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Postnatal growth retardation, Hepatomegaly, Elevated hepatic ... OMIM:232700
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... OMIM:612474
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Elevated hepatic transaminase, Diabetes mellitus, Hepatic steatosis,... OMIM:610717
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Brachydactyly, Tetralogy of Fallot, Aplasia/Hypoplasia of fingers ORPHA:1919
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Edema, Portal hy... OMIM:232500
Snakebite Envenomation
Muscle fiber necrosis, Stroke, Respiratory paralysis, Epistaxis, Tachycardia, Intracranial hemorr... ORPHA:449285
Aggressive Systemic Mastocytosis
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Elevated circulating alkali... ORPHA:98850
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency due to muscle weakness, Macroglossia, Left ventri... ORPHA:308552
Coffin-Siris Syndrome 10
Ventricular septal defect, Clinodactyly OMIM:618506
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Dehydration, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia,... ORPHA:27
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Coat hanger sign of ribs, Large placenta, Ventricular septal defect, Polyhydramn... ORPHA:254534
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly OMIM:613490
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Elevate... ORPHA:507
Acute Liver Failure
Adrenal insufficiency, Hepatocellular necrosis, Jaundice, Intracranial hemorrhage, Hypotension, E... ORPHA:90062
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... ORPHA:54251
Klippel-Trénaunay Syndrome
Hepatomegaly, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Microcytic anemia, Paten... ORPHA:90308
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Os... ORPHA:371428
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hepatomegaly, Short stature, Increased hepatic glycogen content, Cirrhosis, Hepatoc... ORPHA:369
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Internal hemorrhage, Hypertension, Anemia, Lymphadenopathy ORPHA:69077
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation, Postaxial ha... ORPHA:83473
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... OMIM:619644
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Hypoplasia of the thymus, Hydrops fetalis, Ventricular septal defect, Oligohydr... OMIM:617022
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Joubert Syndrome 18
Ventricular septal defect, Intrauterine growth retardation, Polydactyly, Camptodactyly OMIM:614815
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Neonat... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Neonat... OMIM:618835
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Edema, Thrombocy... ORPHA:158029
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Cog7-Cdg
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Postnatal growth retardation, Ja... ORPHA:79333
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... OMIM:619743
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Elevated hepatic transaminase, Postnatal growth retardation, Hepatic st... OMIM:617093
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Toe clinodactyly, Toe syndactyly ORPHA:261120
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Lymphangiectasia, Intestinal
Lymphopenia, Pedal edema, Edema, Intestinal lymphangiectasia, Stillbirth OMIM:152800
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:1832
Adamantinoma
Hypercalcemia ORPHA:55881
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Hydrops fetalis, Arrhythmia, Rhabdomyolysis, Dilated cardiomyopathy, R... OMIM:609015
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Brachydactyly, Coarctation of aorta, Tetra... ORPHA:2209
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microcyt... OMIM:618805
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Diamond-Blackfan Anemia 6
Atrial septal defect, Tracheomalacia, Mitral regurgitation, Tetralogy of Fallot, Ventricular sept... OMIM:612561
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Polyhydramnios, Anemia, Oligohydramnios, Ascites ORPHA:1046
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Intrauterine growth retardation, Hypoplastic left heart, Abnormal rib ... ORPHA:2772
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Abnormal heart morphology OMIM:184800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Lymphedema, Growth delay, Anemia, Lymphadenopathy OMIM:607115
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Tetralogy of Fallot, Sandal gap, Ventricular hypertrophy, Pulmonary arteria... OMIM:300887
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Heart murmur, Restrictive ventilatory defect, Dyspnea, Diffuse alveolar hemorrha... ORPHA:99931
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Camptodactyly of finger, Respirato... ORPHA:1488
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Abnormal carotid artery morphology, Myocarditis... ORPHA:3342
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Myopathy, Centronuclear, 5
Hip contracture, Facial palsy, Dilated cardiomyopathy, Respiratory insufficiency OMIM:615959
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice ORPHA:33574
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... OMIM:126320
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Abnormal left ventricular function, Coxa valga, Pulmonic stenosis,... OMIM:301056
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Respiratory fail... OMIM:245400
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Respiratory insufficiency, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyo... OMIM:615352
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Decreased mean corpuscular volume, Hepatosplenomegaly, Abnormality of the ... ORPHA:300298
Scedosporiosis
Sinusitis, Pleural empyema, Endocarditis, Cough, Pneumonia, Abnormal respiratory system physiolog... ORPHA:449280
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Respiratory insufficiency, Dextrocardia, Missing ribs, Meningocele, Abno... ORPHA:1759
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Respira... ORPHA:1461
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616501
Gaucher Disease, Type I
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... OMIM:230800
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Congenital Enterovirus Infection
Leukocytosis, Hepatic failure, Leukopenia, Hydrops fetalis, Cholestasis, Abnormal macrophage morp... ORPHA:292
Nephronophthisis 2
Pulmonary insufficiency, Respiratory insufficiency, Situs inversus totalis, Hypertension, Oligohy... OMIM:602088
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
Macrophage Activation Syndrome
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated cir... ORPHA:158061
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic eventration, Camptodactyly of finger, Distal amyotrophy, Spinal muscular atrophy, T... OMIM:604320
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus OMIM:601355
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Splenomeg... OMIM:613489
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... ORPHA:3405
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Rh Deficiency Syndrome
Hypochromia, Intrauterine growth retardation, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Ta... ORPHA:71275
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Edema, Hepatic failure OMIM:177000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Respiratory fai... ORPHA:2590
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Death in childhood, Respiratory insufficiency, Rhabdomyol... OMIM:610505
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure OMIM:610127
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Equinus calcaneus, Left ventricular hypertrophy, Respiratory insufficien... ORPHA:746
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Nonimmune... ORPHA:367
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Supracardiac total anomalous pulmonary venous connection, Apneic episodes i... ORPHA:99125
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short ribs, Multiple rib fractures, Short femur,... OMIM:616897
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Lymphatic Malformation 7
Respiratory distress, Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops feta... OMIM:617300
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... OMIM:613954
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Atrial septal defect, Short ribs, Ventricular septal defect, Abnormal rib m... ORPHA:2519
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... ORPHA:1686
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Edema, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... ORPHA:95430
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Po... ORPHA:2759
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... ORPHA:980
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Cirrhosis... OMIM:269200
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:612780
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Pulmonary artery atresi... ORPHA:401935
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Overlapping toe, Atrial septal defect, Systolic heart murmur, Tetralogy of Fal... OMIM:617478
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Growth delay, Hepatomegaly, Splenomegaly OMIM:306000
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium OMIM:615524
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta