Gene Summary

heme oxygenase 2
HO-2,  HO2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 monocyte cell number Hmox2tm1b(EUCOMM)Hmgu HOM   Early adult 9.77×10-05
abnormal gait Hmox2tm1b(EUCOMM)Hmgu HOM Early adult 1.33×10-15
enlarged heart Hmox2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased red blood cell distribution width Hmox2tm1b(EUCOMM)Hmgu HOM Early adult 3.27×10-05
increased spleen weight Hmox2tm1b(EUCOMM)Hmgu HOM Early adult 6.34×10-37

Download data as:  TSV  XLS

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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.


XRay Images Skull Dorso Ventral Orientation

8 Images


XRay Images Whole Body Lateral Orientation

8 Images


XRay Images Whole Body Dorso Ventral

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Hmox2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Hmox2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Myotonia Congenita, Autosomal Dominant
Myotonia, Handgrip myotonia, Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... OMIM:160800
Thomsen And Becker Disease
Myotonia ORPHA:614
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Decreased DLCO, Pulm... OMIM:234810
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Paramyotonia Congenita Of Von Eulenburg
Myotonia, Myotonia of the upper limb, Handgrip myotonia, Percussion myotonia, Cold-sensitive myot... ORPHA:684
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Cardiomegaly OMIM:227150
Cholesterol Pneumonia
Tachypnea, Cyanosis, Cough, Pneumonia OMIM:215030
Myotonia Congenita, Autosomal Recessive
Myotonia, EMG: myotonic runs, Percussion myotonia, Myotonia with warm-up phenomenon OMIM:255700
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Elevated carci... ORPHA:264675
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Tachypnea, Interlobular sep... OMIM:265120
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Pulmonary venous occlusion OMIM:265450
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Paradoxical myotonia, Percussion myotonia OMIM:168300
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Cyanosis, Recurren... OMIM:263000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... OMIM:618986
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, Exertional dyspne... ORPHA:199241
Ataxia-Pancytopenia Syndrome
Gait disturbance, Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macro... ORPHA:2585
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Anemia, Neutropenia, Splenomegaly OMIM:602079
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Dystonia, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chro... OMIM:618278
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Acute Lung Injury
Hypoxemia, Increased circulating surfactant protein level, Pneumonia, Tachypnea, Respiratory dist... ORPHA:178320
Orotic Aciduria
Ventricular septal defect, Hypochromia, Anisocytosis, Atrial septal defect, Poikilocytosis, Pyrim... OMIM:258900
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Nonspecific interstitial pn... OMIM:610921
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Crackles, Bronchie... ORPHA:79126
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Myotonia Fluctuans
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the lower limb, Myotonia of the face, ... ORPHA:99734
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... ORPHA:91359
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory tract infection, Pulmonary edema, Respirat... ORPHA:70587
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia OMIM:137200
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Myotonia, Potassium-Aggravated
Myotonia OMIM:608390
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Pulmonary arterial hyp... OMIM:106700
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma... ORPHA:231226
X-Linked Sideroblastic Anemia
Dyspnea, Abnormality of iron homeostasis ORPHA:75563
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... ORPHA:244
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous ... ORPHA:2258
Scimitar Syndrome
Truncus arteriosus, Patent ductus arteriosus, Abnormal lung morphology, Anomalous pulmonary venou... ORPHA:185
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hypoxemia, Abnormal aortic arch morphology, Tachypnea, Abnormal coronary... ORPHA:860
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empyema, Re... ORPHA:36238
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Ataxia, Gait ataxia OMIM:616719
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Patent ductus arteriosus, Decreased peak expirato... ORPHA:95430
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Total anomalous pulmonary venous return, Coarctation of aorta, Hyp... OMIM:613854
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Ataxia, Impaired neutrophil bactericidal activi... OMIM:613470
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice ORPHA:858
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... OMIM:610978
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... OMIM:612541
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration ORPHA:446
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Methionine Malabsorption Syndrome
Tachypnea, Positive ferric chloride test OMIM:250900
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Hyperalaninemia, Episodic tachypnea, Elevated circulating sebacic acid concentrat... OMIM:615160
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Neuraminidase Deficiency
Hepatomegaly, Ascites, Dysmetria, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, C... OMIM:256550
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Avian Influenza
Productive cough, Hypoxemia, Hypoalbuminemia, Pneumonia, Tachypnea, Pneumothorax, Elevated circul... ORPHA:454836
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis OMIM:613313
Pulmonary Alveolar Microlithiasis
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... ORPHA:60025
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Tachypnea, Cyanosis, Anomalous pulmonary venous return, Respiratory failure, Respirato... ORPHA:555874
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Myotonia, Percussion-induced rapid rolling muscle contractions, Handgrip myotonia ORPHA:324442
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Abnormal circulating ... ORPHA:747
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, H... OMIM:619644
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Atrial Septal Defect 8
Anomalous pulmonary venous return OMIM:614433
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Ataxia, Inability to walk, Hemolytic anemia, Jaundice OMIM:608885
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dystonia, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Thromboc... ORPHA:79312
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Abnormal lung lobation, Coarctation o... ORPHA:1120
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Distal Myopathy, Tateyama Type
Percussion-induced rapid rolling muscle contractions ORPHA:488650
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis... ORPHA:848
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Hyperactivity, Asymmetric septal hypertrophy OMIM:252920
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Myotonia Permanens
Myotonia ORPHA:99735
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Richieri Costa-Da Silva Syndrome
Myotonia of the upper limb, Handgrip myotonia ORPHA:3101
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Double Outlet Right Ventricle
Truncus arteriosus, Tachypnea, Double outlet right ventricle, Coarctation of aorta, Cyanosis, Tet... ORPHA:3426
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Cy... ORPHA:1209
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Lethargy OMIM:600649
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the pulmonary veins, Persiste... ORPHA:2306
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Joubert Syndrome 7
Tachypnea, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:611560
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait disturbance, Increased hepatic glycogen content, Cardiomegaly, Cardiomyopathy, Ataxia, Trunc... OMIM:619259
Hemochromatosis, Type 3
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:604250
Myofibrillar Myopathy 10
Percussion myotonia OMIM:619040
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
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Exertional dyspnea, Anomalous pulmonary venous return, Dyspnea, ... ORPHA:99105
Telangiectasia, Hereditary Hemorrhagic, Type 4
Dilatation of celiac artery, Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis,... OMIM:610655
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Coarctation of aorta, Patent ductus arteriosus, Exertional dyspnea... ORPHA:1330
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma... ORPHA:615
Zebra Body Myopathy
Handgrip myotonia ORPHA:97240
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Spastic Paraplegia 79, Autosomal Recessive
Myotonia OMIM:615491
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... ORPHA:288
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroe... OMIM:212140
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Myotonic Dystrophy 1
Myotonia OMIM:160900
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune... OMIM:613011
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:618892
Myotonic Dystrophy 2
Myotonia OMIM:602668
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Pulmonary arterial hypertension, Anomalous origin of the left common carotid artery fr... ORPHA:99104
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Arteria lusoria, Pulmonary... ORPHA:99050
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Methylmalonic acidemia, Tachypnea, Pulmonary arterial hypertension, Coarctat... OMIM:614857
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Ataxia, Extramedu... ORPHA:822
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Arterial intimal fibrosis, Pulmonary arterial medial hypertrop... OMIM:178600
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Pulmonary arterial hypertension, Decreased serum iron, Constipation, EEG abnormality ORPHA:391372
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... ORPHA:85451
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress, Hyperammonemia ORPHA:148
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Lethargy OMIM:619064
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Tachypnea, Elevated circulating creatinine concentration, Hyperbilirubinemia, Pulmonar... ORPHA:542323
Triosephosphate Isomerase Deficiency
Dystonia, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic... OMIM:615512
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Hemochromatosis, Type 1
Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Splenomegaly, Cirr... OMIM:235200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Hemochromatosis, Type 2A
Increased serum iron, Increased circulating ferritin concentration OMIM:602390
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Truncal ataxia, Limb ataxia OMIM:619051
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Citrullinemia Type I
Tachypnea, Elevated plasma citrulline, Hyperammonemia ORPHA:247525
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea, Patent ductus arteriosus OMIM:616501
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:606069
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Hyperalaninemia, Hyperammonemia OMIM:615751
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Total anomalou... OMIM:616749
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Truncus arteriosus, Persistent left superior vena cava, Elevated circula... OMIM:617478
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins OMIM:618021
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hypertrophy... OMIM:115197
Congenital Erythropoietic Porphyria
Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, T... ORPHA:79277
Niemann-Pick Disease, Type C1
Fetal ascites, Hepatomegaly, Dystonia, Bone-marrow foam cells, Splenomegaly, Ataxia, Prolonged ne... OMIM:257220
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Steppage gait, Cardiomegaly, Inability to walk, Abnormal atrioventricular ... ORPHA:324410
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress, Hyperammonemia ORPHA:79242
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arterial fibromuscular dysplasia, Arteriosclerosis, Vasc... ORPHA:494424
Tempi Syndrome
Abnormality of the pulmonary vasculature, Hypoxemia, Transudative pleural effusion ORPHA:284227
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea, Elevated circulating creatine kinase concentration, Hyperammonemia... OMIM:201475
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Myotonia ORPHA:98855
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary lymphangiectasia, Neonatal respiratory distress, Pulmonary art... OMIM:265380
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Telangiectasia, Hereditary Hemorrhagic, Type 1
Dilatation of celiac artery, Hypoxemia, Spinal arteriovenous malformation, Reduced FEV1/FVC ratio... OMIM:187300
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Tachypnea, Ventilator dependence with inability to wean, Inspiratory stridor OMIM:604320
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... OMIM:617394
Hyperkalemic Periodic Paralysis
Myotonia ORPHA:682
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... OMIM:306955
X-Linked Emery-Dreifuss Muscular Dystrophy
Myotonia ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Myotonia ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Myotonia ORPHA:98853
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Pneumonia, Tachypnea, Elevated circulating creatine kinase concentration, Hypera... ORPHA:26793
Trichohepatoenteric Syndrome 2
Diarrhea, Decreased serum iron, Colitis OMIM:614602
Congenital Total Pulmonary Venous Return Anomaly
Apneic episodes in infancy, Paroxysmal dyspnea, Mixed total anomalous pulmonary venous connection... ORPHA:99125
Schwartz-Jampel Syndrome, Type 1
Myotonia OMIM:255800
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Timothy Syndrome
Ventricular septal defect, Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Ascites, Cardiomegaly, Myocardial fibrosis OMIM:253250
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Autosomal Recessive Spondylocostal Dysostosis
Respiratory insufficiency, Anomalous pulmonary venous return ORPHA:2311
Tachypnea, Respiratory distress, Elevated circulating creatine kinase concentration ORPHA:3299
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Refsum Disease, Classic
Ataxia, Cardiomegaly, Cardiomyopathy OMIM:266500
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myotonic runs ORPHA:353
Coronary Arterial Fistula
Coronary artery aneurysm, Tachypnea, Pulmonary arterial hypertension, Patent ductus arteriosus, E... ORPHA:2041
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis, Ataxia, Lethargy ORPHA:42
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Pulmonary arterial hypertension, Vascular dilatation OMIM:613320
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... OMIM:602347
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Apnea, Pulmonary arteriovenous malformation ORPHA:268943
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Increased serum zinc OMIM:601979
Joubert Syndrome 3
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:608629
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Splenom... ORPHA:465508
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Neonatal hyperbilirubinemia, Episodic tachypnea, Hyperuricemia, Respi... ORPHA:348
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Tachypnea, Pulmonary arterial hypertension, Patent ductus arteriosus,... OMIM:613834
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Cardiomegaly, Patent foramen ovale OMIM:618652
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Abnormal respiratory system physiology, Tachypnea, Pulmonary arteria... ORPHA:99106
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta OMIM:617022
Pulmonary venous occlusion, Elevated circulating creatinine concentration, Pulmonary hypoplasia ORPHA:2260
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Ascites, Anemia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Akinesia, Thromboc... OMIM:608013
Atypical Rett Syndrome
Sudden episodic apnea, Abnormal pattern of respiration, Episodic tachypnea ORPHA:3095
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Meacham Syndrome
Persistent left superior vena cava, Coarctation of aorta, Patent ductus arteriosus, Cardiac total... OMIM:608978
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Holt-Oram Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:392
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Epistaxis, Pulmonary arteriovenous malformation, Aortic aneurysm, Hepatic arte... OMIM:175050
Stuve-Wiedemann Syndrome 1
Myotonia OMIM:601559
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation, Hyperammonemia OMIM:253270
Myeloproliferative disorder, Splenomegaly OMIM:254450
Hsd10 Disease, Infantile Type
Loss of ability to walk, Dystonia, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Right Atrial Isomerism
Abnormal lung lobation, Total anomalous pulmonary venous return, Transposition of the great arter... OMIM:208530
Propionic Acidemia
Tachypnea, Apnea, Hyperglycinemia, Hyperammonemia OMIM:606054
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Cardiomyopathy OMIM:105210
Meacham Syndrome
Conotruncal defect, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Pulmonary sequestrat... ORPHA:3097
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Increased circulating ferritin concentration, Decreased transferrin saturat... ORPHA:300298
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... ORPHA:1329
Pyruvate Dehydrogenase Deficiency
Tachypnea, Dyspnea ORPHA:765
Mednik Syndrome
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration ORPHA:171851
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Tachypnea, Hypercapnia, Elevated creatine kinase after exercise, Hyperphosphatemia ORPHA:423
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloody bronchoalveolar lavage fluid, Crac... OMIM:233450
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration ORPHA:209919
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Lymphadeno... OMIM:602782
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea, Recurrent respiratory infections, Elevated circulating C-reactive protein concentratio... OMIM:615934
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea OMIM:220111
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Tachypnea, Hypophosphatemia, Dyspnea OMIM:239200
Hyponatremia, Hypokalemia, Tachypnea, Hypocalcemia, Hyperventilation, Aspiration pneumonia, Abnor... ORPHA:173
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Neonatal respiratory distress, Tachypnea, Patent ductus arteriosus, Asthma, Pulmon... ORPHA:79345
Sandhoff Disease
Ataxia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Bacterial Toxic-Shock Syndrome
Sinusitis, Pneumonia, Tachypnea, Elevated circulating creatine kinase concentration, Elevated cir... ORPHA:36234
African Iron Overload
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... ORPHA:139507
Hepatomegaly, Hepatic fibrosis, Acanthocytosis, Dysmetria, Steppage gait, Anemia, Cardiomegaly, C... ORPHA:14
Hepatomegaly, Dystonia, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial se... ORPHA:79330
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Tetralogy of Fallot ORPHA:261183
Aceruloplasminemia, Elevated hepatic iron concentration, Decreased serum iron, Decreased circulat... ORPHA:48818
Idiopathic Camptocormia
Myotonia ORPHA:1320
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly OMIM:230000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Inability to walk, Cardiomegaly, Tip-toe gait ORPHA:268
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Ethylene Glycol Poisoning
Hyperkalemia, Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Cyanosis... ORPHA:31826
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Intractable diarrhea, Hypoalbuminemia, Dia... OMIM:222470
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Tachypnea, Abnormal pattern of respiration, Increased... ORPHA:3008
Aortic Arch Interruption
Truncus arteriosus, Tachypnea, Double outlet right ventricle, Aortopulmonary window, Patent ductu... ORPHA:2299
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Congenital Tracheal Stenosis
Wheezing, Pulmonary artery atresia, Abnormal lung lobation, Preductal coarctation of the aorta, P... ORPHA:141127
Beck-Fahrner Syndrome
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly OMIM:618798
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spinal arteriovenous malformation, Pulmonary arterial hypertension, Spontaneous, recurrent epista... OMIM:600376
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration ORPHA:435934
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Cocaine Intoxication
Wheezing, Aortic dissection, Tachypnea, Pneumothorax, Elevated circulating creatine kinase concen... ORPHA:90068
Beta-Thalassemia Major
Dyspnea, Diarrhea, Abnormality of iron homeostasis ORPHA:231214
Beta-Ketothiolase Deficiency
Tachypnea, Cough, Hyperuricemia, Hyperammonemia ORPHA:134
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Ascites OMIM:616897
Biotinidase Deficiency
Tachypnea, Apnea, Hyperammonemia OMIM:253260
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Hepatomegaly, Hepatic calcification, Dilated cardiomyopathy, Lipid accumulation in hepa... OMIM:608836
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia ORPHA:438216
Schwartz-Jampel Syndrome
Myotonia ORPHA:800
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy, Ascites OMIM:261740
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Ascites, Cardiomegaly, Cirrhosis, Left ventricular hypertr... ORPHA:57777
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Abnormal blood inorganic cation concentration, Hype... ORPHA:309854
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dysphagia, Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentratio... ORPHA:89842
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... ORPHA:363705
Microphthalmia, Syndromic 9
Truncus arteriosus, Respiratory insufficiency, Coarctation of aorta, Right aortic arch with mirro... OMIM:601186
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Gait disturbance, Cardiomegaly, Ataxia, Inability to walk OMIM:618143
Cardiac Diverticulum
Abnormal aortic morphology, Persistent left superior vena cava, Abnormal coronary artery origin, ... ORPHA:1686
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Increased circulating ferritin concent... ORPHA:101330
Joubert Syndrome
Apnea, Abnormal pattern of respiration, Episodic tachypnea ORPHA:475
Mucopolysaccharidosis Type 3
Hepatomegaly, Gait disturbance, Abnormal mitral valve morphology, Loss of ambulation, Abnormal ao... ORPHA:581
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Total anomalous pulmonary venous return, Abnormal circulating cholesterol concentration, Patent d... OMIM:602398
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Hypsarrhythmia, EEG abnormality, High nonceruloplasmin-bound s... ORPHA:457351
Syndromic Diarrhea
Bloody diarrhea, Abnormality of iron homeostasis, Intractable diarrhea, Gastritis, Colitis ORPHA:84064
Pauci-Immune Glomerulonephritis
Abnormality of the pulmonary vasculature, Elevated circulating creatinine concentration, Cough, P... ORPHA:93126
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Increased hepatic glycogen conte... OMIM:614921
Juvenile Polyposis Syndrome
Hypoproteinemia, Epistaxis, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Pu... ORPHA:2929
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myotonic runs ORPHA:206549
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Cat Eye Syndrome
Total anomalous pulmonary venous return OMIM:115470
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Respiratory insufficiency, Tachypnea, Cough, Hypocalcemia, Abnor... OMIM:613658
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Hyperuricemia, Hyperammonemia ORPHA:20
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Tachypnea, Apnea, Chronic lung disease, Recurrent respiratory inf... ORPHA:397715
Heterotaxy, Visceral, 5, Autosomal
Ascending tubular aorta aneurysm, Total anomalous pulmonary venous return, Double outlet right ve... OMIM:270100
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Crackles, Tachypnea, Elevated circulating creatine kinase concentration, Hypocalcem... ORPHA:466650
Lipodystrophy, Congenital Generalized, Type 4
Muscle mounding OMIM:613327
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Osteogenesis Imperfecta, Type Vii
Hypoplastic pulmonary veins, Absent pulmonary artery OMIM:610682
Hypsarrhythmia, Abnormal blood zinc concentration, Sudden episodic apnea, Hypomanganesemia ORPHA:468699
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Peters Plus Syndrome
Abnormal pulmonary vein morphology, Abnormality of the pulmonary artery, Patent ductus arteriosus ORPHA:709
Serotonin Syndrome
Tachypnea ORPHA:43116
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Pulmonary edema, Cough ORPHA:137675
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Dystonia, Cardiomegaly, Hepatosplenomega... ORPHA:51
Steinert Myotonic Dystrophy
Myotonia of the jaw, Myotonia of the upper limb, Handgrip myotonia, Myotonia with warm-up phenomenon ORPHA:273
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Cardiomegaly, Cardiomyopathy, Hepatic steatosis, Abnormal my... ORPHA:228308
Scorpion Envenomation
Hypokalemia, Tachypnea, Increased circulating NT-proBNP concentration, Pulmonary edema, Increased... ORPHA:466677
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Joubert Syndrome 2
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:608091
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea, Hyperornithinemia, Abnormal circulating citrulline concentration, Hyperammonemia ORPHA:415
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Bone marrow hypocellularity, Cardiomegaly, Pancreatic islet-... OMIM:215140
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Abnormality ... ORPHA:1677
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly ORPHA:2463
Joubert Syndrome 1
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:213300
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Varicose veins, Patent ductus arteriosus ORPHA:33001
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Respiratory i... ORPHA:470
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Ascites, C... ORPHA:75565
Bohring-Opitz Syndrome
Annular pancreas, Cardiomegaly, Cholelithiasis, Inability to walk, Abnormal cardiac septum morpho... ORPHA:97297
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Inability ... ORPHA:365
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Total anomalous pulmonary venous return, Patent ductus arteriosus ORPHA:487796
Joubert Syndrome 5
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:610188
Arima Syndrome
Tachypnea, Dyspnea OMIM:243910
Hardikar Syndrome
Coarctation of aorta, Hyperbilirubinemia, Patent ductus arteriosus, Partial anomalous pulmonary v... OMIM:301068
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Wilson Disease
Dysphagia, High nonceruloplasmin-bound serum copper OMIM:277900
Partial Deletion Of The Short Arm Of Chromosome 7
Patent ductus arteriosus after birth at term, Partial anomalous pulmonary venous return ORPHA:261911
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Lymphadenopathy, Cardiomegaly, Splenomegaly, Microcytic anemia, Thrombocytopenia OMIM:256040
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return OMIM:609945
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Decreased serum zinc, Esophagitis ORPHA:541423
Cardiac-Urogenital Syndrome
Scimitar anomaly, Pulmonary hypoplasia, Tetralogy of Fallot, Patent ductus arteriosus OMIM:618280
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Polycythemia, Cardiomegaly, Hepatoblastoma, Splenomega... ORPHA:116
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Dysphagia, Unconjugated hyperbilirubinemia, Decreased serum iron, Pulm... ORPHA:447
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dysphagia, Obstructive sleep apnea, Apnea, Breathing dysregulation, Decreased serum iron, Central... ORPHA:438213
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Abnormal lung lobation, Total anomalous pulmonary venous return, P... OMIM:312870
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Hepatoblastoma, Cardiomyopathy, Pancreatic hyperplasia, Enlarged kidney OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Immunodeficiency 47
Chronic diarrhea, Exocrine pancreatic insufficiency, Decreased circulating copper concentration, ... OMIM:300972
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Partial anomalous pulmonary venous return OMIM:301044
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea, Central retinal vessel vascular tortuosity ORPHA:2751
Acute Transverse Myelitis
Decreased circulating copper concentration, Paralytic ileus, Gastroparesis, Constipation ORPHA:139417
Williams Syndrome
Hypertrophic cardiomyopathy, Gait disturbance, Bicuspid aortic valve, Ventricular septal defect, ... ORPHA:904
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:2092
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Waddling gait, Aortic valv... OMIM:182250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hypsarrhythmia, Elevated hepatic iron concentration OMIM:300868
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dysphagia, Decreased serum zinc, Abnormal circulating selenium concentration, Decreased plasma to... ORPHA:79408
Generalized Arterial Calcification Of Infancy
Hepatic calcification, Myocardial calcification, Pericardial effusion, Ascites, Ventricular hyper... ORPHA:51608
Wrinkly Skin Syndrome
High nonceruloplasmin-bound serum copper ORPHA:2834


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

There is no histopathology data for Hmox2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hmox2.

No publications found that use IMPC mice or data for Hmox2.

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MGI Allele Allele Type Produced
Hmox2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Hmox2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hmox2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hmox2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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