Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nitrogen permease regulator-like 3
Synonyms:
HS-26,  -14 gene,  Prox1,  Mare,  HS-40,  m(alpha)RE,  Phg

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 Nprl3 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 Nprl3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Epilepsy, Familial Focal, With Variable Foci 3
OMIM:617118

The table below shows human diseases predicted to be associated to Nprl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Cleft upper lip, Double outlet right ventricle, Right ao... OMIM:231060
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Intrauterine growth retardati... OMIM:616145
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Oligohydramnios,... OMIM:601927
Lethal Congenital Contracture Syndrome 10
Omphalocele, Ventricular septal defect, High palate, Intrauterine growth retardation, Long philtr... OMIM:617022
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Pallor, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Truncus Arteriosus
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... ORPHA:3384
Amme Complex
Elliptocytosis OMIM:300194
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... OMIM:109270
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus OMIM:615297
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Congenital diaphragmatic her... ORPHA:1166
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Abnormal heart morphology, Stillbirth, Atypical scarring of skin, Congenital malfor... ORPHA:294975
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia OMIM:268150
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Orotic Aciduria
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... OMIM:258900
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systol... OMIM:617478
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gast... ORPHA:90308
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Velocardiofacial Syndrome
Interrupted aortic arch, Pulmonary artery atresia, Ventricular septal defect, Cleft palate, Pierr... OMIM:192430
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Anomalous or... ORPHA:99050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, N... OMIM:265380
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Smooth philtrum, Transposition ... ORPHA:1727
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Persistent left superior vena cava, Double outlet right ventricle, Patent ductus art... ORPHA:3304
Beta-Thalassemia
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Double outlet right ventricle, Coarctation of aorta, Patent ductus art... OMIM:618164
Spherocytosis, Type 1
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:182900
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185000
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Pallor, Anemia, Splenomegaly ORPHA:75563
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Long philtrum, Persistent left... ORPHA:477817
Heart And Brain Malformation Syndrome
Interrupted aortic arch, High, narrow palate, Ventricular septal defect, Thick lower lip vermilio... OMIM:616920
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... OMIM:601775
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... OMIM:618780
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Pancreatic hypoplasia, Truncus arteriosus, Aplasia of the left hemidiaphragm, ... OMIM:600001
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Midgut malrotation, Pulmonary insufficiency, Cleft palate, Short lingual ... ORPHA:2326
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Abnormal aortic arch morphology, Intrauterine growth retardation, Downturned corne... ORPHA:1110
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... OMIM:613759
Microphthalmia, Syndromic 9
Pulmonary artery atresia, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus,... OMIM:601186
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Ethanolaminosis
Cardiomegaly OMIM:227150
Meacham Syndrome
Bicuspid aortic valve, Neonatal death, Aplasia of the left hemidiaphragm, Patent ductus arteriosu... OMIM:608978
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... ORPHA:2255
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Splenomegaly, Poikilocytosis, Reticulocytosis, Abnor... ORPHA:288
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Cardiac Diverticulum
Omphalocele, Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin,... ORPHA:1686
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:617577
Nephronophthisis
Anemia ORPHA:655
Retinitis Pigmentosa 42
Pallor OMIM:612943
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... ORPHA:1926
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
Double Outlet Right Ventricle
Ventricular septal defect, Cleft palate, Truncus arteriosus, Submucous cleft hard palate, Double ... ORPHA:3426
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Heart murmur, Cardiomegaly, Tricuspid regurgitat... ORPHA:615
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Cleft palate, Facial palsy, Patent ductus arteriosus, R... OMIM:147770
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Retinitis Pigmentosa 81
Pallor OMIM:617871
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Ventricular septal defect, Double outlet right ventricle, Gingival ove... OMIM:179613
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Transient Neonatal Diabetes Mellitus
Intrauterine growth retardation, Macroglossia, Abnormal heart morphology, Dehydration, Umbilical ... ORPHA:99886
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Hypochromic anemia, Sideroblastic anemia, Microcytic ... OMIM:600462
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Smooth philtrum, Double outlet right ventricle, Patent ductus arterios... OMIM:618316
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Arterial Tortuosity Syndrome
Hypertension, High palate, Cutis laxa, Ischemic stroke, Long philtrum, Congenital diaphragmatic h... OMIM:208050
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosu... ORPHA:290
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Double outlet right ven... OMIM:220210
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice OMIM:613839
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Cantu Syndrome
Thick lower lip vermilion, Bicuspid aortic valve, Pericardial effusion, Long philtrum, Cardiomega... OMIM:239850
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Anisopoikilocytosis, Anemia, Schistocytosis OMIM:616457
Congenital Sialidosis Type 2
Hepatomegaly, Telangiectasia, Petechiae, Ascites, Cherry red spot of the macula, Abnormal heart m... ORPHA:93400
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the pu... ORPHA:2306
Dextrocardia
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Meckel diverticulum... ORPHA:1666
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... ORPHA:2041
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Congenital Tracheomalacia
Single ventricle, Patent ductus arteriosus, Double aortic arch, Emphysema, Ventricular septal def... ORPHA:95430
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Perlman Syndrome
Interrupted aortic arch, Ascites, Long upper lip, Congenital diaphragmatic hernia, Edema, Volvulu... OMIM:267000
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Ventricular septal defect, Abnormal aortic morphology, Truncus arteriosus, C... ORPHA:2516
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Fadd-Related Immunodeficiency
Decreased liver function, Ventricular septal defect, Pulmonary artery atresia, Hepatic fibrosis ORPHA:306550
Retinitis Pigmentosa 60
Pallor OMIM:613983
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Intrauterine growth retarda... OMIM:612938
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Mitral valve prolapse, Webbed neck, Atrophic scars, Inguinal hernia, Short neck, Ven... OMIM:618000
Autism Spectrum Disorder Due To Auts2 Deficiency
Short philtrum, Umbilical hernia, Abnormal heart morphology, Arthrogryposis multiplex congenita, ... ORPHA:352490
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Hepatomegaly, Petechiae, Anemia, S... ORPHA:824
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Coarctation of aorta, Cirrhosis, Hepatosplenome... ORPHA:101028
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal... ORPHA:363705
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
High palate, Short philtrum, Inguinal hernia, Abnormal cardiac septum morphology, Umbilical hernia OMIM:618354
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Microdontia, Pneumonia, Cardiomegaly, Bradycard... OMIM:601005
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Intrauterine growth retardation... OMIM:300712
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Fryns Syndrome
Omphalocele, Cleft palate, Duodenal atresia, Abnormal aortic arch morphology, Abnormal aortic mor... ORPHA:2059
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Mitral regurgitation, Knee fle... OMIM:603387
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal macrophag... ORPHA:507
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Intrauterine growth retardation, Torticollis, Abnormal heart morphology, Bif... ORPHA:2872
Digeorge Syndrome
Interrupted aortic arch, High, narrow palate, Ventricular septal defect, Cleft palate, Truncus ar... OMIM:188400
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... ORPHA:2258
Mcleod Syndrome
Acanthocytosis, Abnormal erythrocyte morphology, Hepatosplenomegaly OMIM:300842
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Persistent left superior vena cava, Double ou... ORPHA:244
Eng-Strom Syndrome
Ventricular septal defect, Intrauterine growth retardation, Abnormal cardiac septum morphology, C... ORPHA:1937
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Ascites, Cherry red spot of the macula, Bone-marrow foam c... OMIM:256550
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocyto... ORPHA:1959
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Omphalocele, Ventricular septal defect, Abdominal situs inversus, Asplenia, Double ... OMIM:306955
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, High palate, Intrauterine growth retardation, Long philtrum, Patent duct... ORPHA:250989
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Aortic root aneurysm, Ventricular hypertrophy, Abnormal coronary arte... ORPHA:3400
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular septal defect, High palate, U-Shaped upper lip vermilion, ... OMIM:612946
Maternal Phenylketonuria
Ventricular septal defect, High palate, Intrauterine growth retardation, Long philtrum, Double ou... ORPHA:2209
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, High palate, Long philtrum, Patent ductus arteriosus, Deep philtrum, E... ORPHA:261120
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Extramedullary hematopoiesis... ORPHA:822
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Intracranial hemorrhage, Short ... ORPHA:163979
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosu... OMIM:617021
Right Atrial Isomerism
Pulmonary artery atresia, Dextrocardia, Ventricular septal defect, Abdominal situs ambiguus, Comp... OMIM:208530
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Alg3-Cdg
High palate, Coarctation of the descending aortic arch, Neural tube defect, Macroglossia, Lipodys... ORPHA:79321
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Telangiectasia, Intrauterine growth retardation, Hepatic... OMIM:606003
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnorma... OMIM:618654
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Glossoptosis, Elevated circulating aspartate aminotransf... OMIM:614876
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Syncope, Pericardial effusion, Ascites, Vent... OMIM:115197
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal endoc... ORPHA:500
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Patent ductus arter... OMIM:616501
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding, Abnormality of the mouth OMIM:600195
American Trypanosomiasis
Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Edema, Cardiomyopathy, Splenom... ORPHA:3386
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Pallor, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... ORPHA:300298
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, High palate, Atrial septal defect, Umbilical hernia ORPHA:1035
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Abnormal heart morphology, Polyhydramnios, Diastasis rect... ORPHA:254534
Juvenile Sialidosis Type 2
Hepatomegaly, Cherry red spot of the macula, Abnormal heart morphology, Gingival overgrowth, Ingu... ORPHA:93399
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis OMIM:187800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hepatomegaly, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Ske... ORPHA:17
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Hypertension, Intracranial hemorrhage, Mitral valve ca... ORPHA:363618
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... ORPHA:49827
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Diastema, Wide mouth, Inguinal... ORPHA:329224
Sialidosis Type 2
Hepatomegaly, Skeletal muscle atrophy, Umbilical hernia, Ascites, Splenomegaly, Flexion contractu... ORPHA:87876
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Redundant neck skin, Hypodontia, Megarectum, Intrauterin... OMIM:301056
Optic Atrophy 9
Pallor OMIM:616289
Feingold Syndrome Type 1
Interrupted aortic arch, Tricuspid atresia, Tricuspid stenosis, Duodenal atresia, Abnormal heart ... ORPHA:391641
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Histiocytoid cardiomyopathy, Congenital diaphragmatic hernia, Anal atr... OMIM:309801
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Duodenal atresia, Abnormal tricuspid valve... ORPHA:3405
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteri... ORPHA:500159
8P23.1 Duplication Syndrome
Ventricular septal defect, Long philtrum, Pulmonic stenosis, Tetralogy of Fallot, Thick vermilion... ORPHA:251076
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Craniofacial Dyssynostosis
Abnormal oral cavity morphology, Short philtrum, Patent ductus arteriosus, Open mouth, Short neck... ORPHA:1516
Mulibrey Nanism
Hepatomegaly, Hypodontia, Pericardial constriction, Intrauterine growth retardation, Ascites, Mic... OMIM:253250
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Long philtrum, Inguinal hernia, Knee flexion contracture, Pursed lips, Camptodac... OMIM:616266
De Barsy Syndrome
Decreased muscle mass, Ventricular septal defect, High palate, Cutis laxa, Intrauterine growth re... ORPHA:2962
Apert Syndrome
Pyloric stenosis, Ventricular septal defect, Cleft palate, Ectopic anus, Esophageal atresia, Dela... OMIM:101200
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Tetralogy Of Fallot
Intrauterine growth retardation, Thin vermilion border, Tetralogy of Fallot ORPHA:3303
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Ventricular septal defect, Cleft palate, Short philtrum, U-Shap... OMIM:601808
Phaver Syndrome
Ventricular septal defect, Intrauterine growth retardation, Myelomeningocele, Coarctation of aort... ORPHA:2876
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Abnormal jugular vein morphology, Abnormality of ... ORPHA:1677
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Arter... OMIM:178600
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Vascular dilatation, H... ORPHA:99095
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Aortic root aneurysm, Patent ductus ar... ORPHA:91387
Catel-Manzke Syndrome
Ventricular septal defect, Cleft palate, Glossoptosis, Atrial septal defect, Camptodactyly of fin... ORPHA:1388
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Redundant neck skin, Smooth philtrum, Cardiomegaly, Patent ductus arte... OMIM:618652
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Wide mouth, Intrahepatic biliary atre... ORPHA:1296
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Esophageal varix, Neonatal death, Patent ductus arteriosus, Splenomegaly, Co... OMIM:619534
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Ascites, Cardiomegaly, Gingival overgrowth, Splenomegaly, Congestive h... OMIM:269920
Autoimmune Hemolytic Anemia
Hemolytic anemia, Pallor, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... ORPHA:276556
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... ORPHA:401935
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Single ventricle, Patent ductus arteriosus, Dextrocardia, Ventricular septal de... OMIM:270100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Focal pancreatic islet hyperplasia, Palpitati... ORPHA:276575
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, High palate, Mitral valve prolapse, Pericardial effusion, Umbilical hern... ORPHA:536532
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect, Intrauterine growth retar... ORPHA:2515
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Supravalvular aortic stenosis, Congenital diaphragmatic hernia,... OMIM:219100
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Tetralogy of Fallot, Overriding aorta, Median cleft lip, Oral cleft ORPHA:3186
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Hypertensio... ORPHA:371428
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Ventricular septal defect, Cleft palate, Truncus arteriosus OMIM:601355
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Coarctation of aorta, Aortic valve stenosis OMIM:241550
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice OMIM:246400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Phenobarbital Embryopathy
Unilateral cleft lip, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Frank-Ter Haar Syndrome
Premature loss of teeth, Mitral valve prolapse, Wide mouth, Short philtrum, Gingival overgrowth, ... ORPHA:137834
X-Linked Mandibulofacial Dysostosis
High palate, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly,... ORPHA:1131
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... ORPHA:99125
Rheumatic Fever
Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Pericarditis, Abnormal mitral ... ORPHA:3099
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Cleft palate, Pierre-Robin sequence, Increased hepatic glycogen content, ... OMIM:614921
Hardikar Syndrome
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomega... OMIM:301068
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Smooth philtrum, Rectal prolapse, Oligodontia, Joint contracture of the hand, Delayed eruption of... OMIM:235510
Adams-Oliver Syndrome 5
Esophageal varix, Umbilical hernia, Right ventricular hypertrophy, Pulmonary arterial hypertensio... OMIM:616028
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Ventricular septal defect, High palate, Dental crowding, Cleft upper lip, Patent ... OMIM:612582
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cleft palate, Smooth philtrum, Wide mouth, Short philtrum, Congenital diaphragmatic hernia, Coarc... OMIM:618454
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Cleft palate, Intrauterine growth retardation, Long philtrum, Congenital diaphragmat... ORPHA:2311
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Cutis laxa, Pulmonary hypoplasia, Long philtrum, Inguinal hern... OMIM:613177
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... ORPHA:276580
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta, Lipodystrophy, Tricusp... ORPHA:2396
Peripheral Cone Dystrophy
Pallor OMIM:609021
Fg Syndrome Type 1
Pyloric stenosis, High palate, Mitral valve prolapse, Abnormal large intestine morphology, Wide m... ORPHA:93932
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morpholog... OMIM:601612
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Rin2 Syndrome
Abnormal lip morphology, High palate, Irregular dentition, Long philtrum, Gingival overgrowth, Ao... ORPHA:217335
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial rupture, Atypical scarring of skin, Vascular dilatation, Umbilical hernia, Widened atrop... ORPHA:1900
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Mediastinal lymphadenopathy, Pericarditis, Double o... ORPHA:397
Carpenter Syndrome 1
Omphalocele, Ventricular septal defect, High palate, Joint contracture of the hand, Patent ductus... OMIM:201000
Hyperekplexia 4
Distal arthrogryposis, High palate, Umbilical hernia, Flexion contracture, Camptodactyly, Inguina... OMIM:618011
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, High palate, Intrauterine growth retardation, Macrogloss... ORPHA:96191
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Smooth philtrum, Facial hypotonia, Thin vermilion border, ... ORPHA:261311
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome OMIM:614947
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Oligohydramni... OMIM:617713
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Pedal ede... OMIM:126320
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Cleft palate, Cleft upper lip, Coarctation of aorta, Tented upper lip ... OMIM:600987
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis ORPHA:1909
Focal Dermal Hypoplasia
Omphalocele, Duodenal atresia, Abnormal dental enamel morphology, Patent ductus arteriosus, Abnor... ORPHA:2092
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Widely spaced teeth, Ventricular septal defect, High palate, Wide mouth, Macroglossia, Abnormal h... ORPHA:369891
Noonan Syndrome 12
Ventricular septal defect, Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, An... OMIM:618624
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Umbilical hernia, Abnormal heart morphology, Joint contracture ... OMIM:175700
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Double outlet right ventri... OMIM:605376
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Reticular pattern on pulmonary HRCT, Pulmonary fi... ORPHA:99931
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Wide mouth, Peripheral pulmonary artery stenosis, Double outlet right ... ORPHA:163956
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Ascites, Lymphadenopathy, Cardiomegaly, Elevated h... ORPHA:858
Lymphedema-Distichiasis Syndrome
Lymphedema, Ventricular septal defect, Cleft palate, Cleft upper lip, Patent ductus arteriosus, V... OMIM:153400
Myelofibrosis
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly OMIM:254450
Kawasaki Disease
Myocarditis, Ascending tubular aorta aneurysm, Pericarditis, Double outlet right ventricle with s... ORPHA:2331
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Aortic root aneurysm, Deep philtrum, Patent ductus arteriosus, Tricuspid re... ORPHA:404443
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Wide mouth, Long philtrum, Cardiomegaly, Patent ductus arteriosus, A... ORPHA:1517
Zimmermann-Laband Syndrome 1
Thick lower lip vermilion, Hepatomegaly, High palate, Aortic root aneurysm, Gingival overgrowth, ... OMIM:135500
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse, Cigarette-paper scars, Aortic root aneurysm, Inguinal hernia, Recurrent lo... OMIM:130000
Opitz Gbbb Syndrome, Type Ii
Smooth philtrum, Cleft palate, Patent ductus arteriosus, Diastasis recti, Thin upper lip vermilio... OMIM:145410
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Mitral regurgita... OMIM:615355
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft palate, Double outlet right ventricle, Webbed neck, Patent ductus arteriosus, Pulmonic sten... OMIM:618223
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Intrauterine growth retardation, Coarctati... ORPHA:1923
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Neonatal death, Left ventricular syst... OMIM:619167
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased live... OMIM:614300
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Pelger-Huet Anomaly
Ventricular septal defect, Umbilical hernia, Gingival overgrowth, Median cleft palate, Abnormalit... OMIM:169400
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Smooth philtrum, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteri... OMIM:617506
Mmep Syndrome
Ventricular septal defect, Median cleft lip, Oral cleft ORPHA:3434
Pagod Syndrome
Meningocele, Abnormality of the spleen, Omphalocele, Abnormal aortic morphology, Congenital diaph... ORPHA:991
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Intestinal malrotation, ... ORPHA:2143
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Familial Lambdoid Synostosis
Stomatocytosis ORPHA:3267
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... ORPHA:57777
Renal Tubular Dysgenesis
Oligohydramnios, Tetralogy of Fallot, Pulmonary hypoplasia, Polyhydramnios ORPHA:3033
Hurler Syndrome
Hepatomegaly, Microdontia, Mitral regurgitation, Endocardial fibroelastosis, Aortic regurgitation... OMIM:607014
Autosomal Recessive Multiple Pterygium Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Skeletal muscle atrophy, High... ORPHA:2990
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia OMIM:615879
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Cleft palate, Aortic root aneurysm, Bi... OMIM:610168
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Patent ductus arteriosus, Atrial septal defect, He... OMIM:614886
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia, Petechiae OMIM:616216
15Q11.2 Microdeletion Syndrome
Abnormal palate morphology, Ventricular septal defect, Total anomalous pulmonary venous return, A... ORPHA:261183
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Intrauterine growth retardation, Pericardial effusion, Systolic heart murmur, Right... ORPHA:555874
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Ehlers-Danlos Syndrome, Periodontal Type, 2
Periodontitis, Gingival bleeding, Umbilical hernia, Inguinal hernia OMIM:617174
Williams Syndrome
Carious teeth, Bicuspid aortic valve, Rectal prolapse, Peripheral pulmonary artery stenosis, Abno... ORPHA:904
Aneurysm-Osteoarthritis Syndrome
Cleft palate, Patent ductus arteriosus, Atypical scarring of skin, Vascular dilatation, Camptodac... ORPHA:284984
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Redundant neck skin, Cleft p... OMIM:235255
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Short philtrum, Atrial septal defect, Widel... OMIM:608227
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Long philtrum, Inguinal hernia, Polyhydramnios, Short neck, Umbi... ORPHA:932
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, Gastroschisis, Non-midline cleft lip, Spin... ORPHA:2476
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Intrauterine growth retardation, Transposition of the gre... ORPHA:1913
German Syndrome
High palate, Arthrogryposis multiplex congenita, Tetralogy of Fallot, Abnormal cardiac septum mor... ORPHA:2077
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Mucopolysaccharidosis Type 7
Umbilical hernia, Ascites, Arteriovenous malformation, Hepatitis, Splenomegaly, Recurrent respira... ORPHA:584
Retinitis Pigmentosa 70
Pallor OMIM:615922
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... ORPHA:231214
Wolcott-Rallison Syndrome
Hepatomegaly, Ascites, Double outlet right ventricle, Abnormality of the liver, Acute hepatic fai... ORPHA:1667
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
Lowry-Maclean Syndrome
Cleft palate, Intrauterine growth retardation, Abnormal heart morphology, Delayed eruption of tee... OMIM:600252
Opitz Gbbb Syndrome
Omphalocele, Cleft palate, Aortic root aneurysm, Enlarged ovaries, Patent ductus arteriosus, Clef... ORPHA:2745
Hemochromatosis, Type 1
Hepatomegaly, Telangiectasia, Hepatocellular carcinoma, Ascites, Cardiomegaly, Cardiomyopathy, Sp... OMIM:235200
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Mucopolysaccharidosis, Type Ii
Widely spaced teeth, Hepatomegaly, Thick lower lip vermilion, Umbilical hernia, Intestinal pseudo... OMIM:309900
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Cleft palate, Tortuous cerebral arteries, Patent ductus arteriosus, Aortic... OMIM:613795
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Filippi Syndrome
Hypodontia, Ventricular septal defect, Intrauterine growth retardation, Short philtrum, Microdont... OMIM:272440
Achondrogenesis, Type Ib
Edema, Inguinal hernia, Polyhydramnios, Stillbirth, Umbilical hernia, Hydrops fetalis OMIM:600972
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Epidural hemorrhage, Tortuous cere... OMIM:619472
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Cleft palate, Abnormality of the philtrum, Non-midline cleft lip, Umbi... ORPHA:1770
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Te... OMIM:300887
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, A... OMIM:616898
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Progeroid Facial Appearance With Hand Anomalies
Short philtrum, Reduced subcutaneous adipose tissue, Thin vermilion border, Oligohydramnios, Tetr... OMIM:602249
Mucopolysaccharidosis, Type Vii
Widely spaced teeth, Hepatomegaly, Chronic bronchitis, Macroglossia, Gingival overgrowth, Cardiom... OMIM:253220
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia OMIM:274150
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... ORPHA:439
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Ventricular septal defect, Psoriasiform dermatitis, Interface hepatitis, Intrauterin... OMIM:243150
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Ventricular septal defect, Long philtrum, Pulmonary arterial hypertens... OMIM:608149
Charge Syndrome
Omphalocele, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Patent ductus arteriosus... OMIM:214800
Distal Tetrasomy 15Q
High palate, Intrauterine growth retardation, Abnormal heart morphology, Hernia, Patent ductus ar... ORPHA:314588
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia ORPHA:391646
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Emanuel Syndrome
Ventricular septal defect, Cleft palate, Truncus arteriosus, High palate, Dental crowding, Long p... OMIM:609029
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Charge Syndrome
Interrupted aortic arch, Cleft palate, Intrauterine growth retardation, Abnormal aortic valve mor... ORPHA:138
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Myopathy, Endocard... OMIM:212140
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, High palate, Intrauterine growth retarda... ORPHA:251071
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Long philtrum, Polyhydramnios, Short neck, Umbilical hernia, Hyd... ORPHA:93298
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Varicose v... OMIM:617300
Immunodeficiency 49
Cutis laxa, Short philtrum, Natal tooth, Pulmonary artery stenosis, Eosinophilia, Umbilical hernia OMIM:617237
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Microdontia, Short philtrum, Abnormal heart morphology, Inguinal hernia, Everted lowe... OMIM:601499
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Anal atresia, Atrial septal defect, Narrow mouth ORPHA:3469
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Pallor, Jaundice ORPHA:90033
Aarskog-Scott Syndrome
Cleft palate, Long philtrum, Cleft upper lip, Inguinal hernia, Delayed eruption of teeth, Everted... ORPHA:915
Chromosome 22Q11.2 Deletion Syndrome, Distal
Cleft palate, Intrauterine growth retardation, Smooth philtrum, Truncus arteriosus, Thin upper li... OMIM:611867
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Intrauterine growth retarda... OMIM:616897
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Esophageal Atresia
Pyloric stenosis, Omphalocele, Ventricular septal defect, Cleft palate, Duodenal atresia, Excessi... ORPHA:1199
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia ORPHA:3204
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced eject... ORPHA:75565
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia OMIM:235400
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Weill-Marchesani Syndrome 2
Ventricular septal defect, High palate, Flexion contracture of toe, Mitral regurgitation, Tooth m... OMIM:608328
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Long philtrum, Polyhydramnios, Short neck, Umbilical hernia, Hyd... ORPHA:93299
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Recurrent respiratory infections, Umbilical hernia, Abnormal aortic morp... ORPHA:1507
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Duodenal atr... OMIM:618846
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Accessory oral frenulum, Umbilical hernia, Inguinal hernia ORPHA:1373
Distal Monosomy 15Q
Bicuspid aortic valve, Abnormal aortic arch morphology, Cleft palate, Intrauterine growth retarda... ORPHA:1596
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Facial edema, Prolonged neonatal jaundice, Umbilical hernia ORPHA:95717
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Syncope, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... ORPHA:422
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Cleft palate, Congenital diaphragmatic hernia, Absent gal... ORPHA:1335
Aminopterin Syndrome Sine Aminopterin
Cleft palate, High palate, Intrauterine growth retardation, Oligodontia, Joint contracture of the... OMIM:600325
Lateral Meningocele Syndrome
Meningocele, Bicuspid aortic valve, Smooth philtrum, High palate, Dental crowding, Long philtrum,... OMIM:130720
Dermatitis, Atopic