Not currently registered for phenotyping at IMPC

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

Gene Summary

von Hippel-Lindau tumor suppressor
Vhlh,  pVHL

IMPC Data Collections

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

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.

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 Vhl 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 predicted to be associated to Vhl by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin, Cough, Exertional dyspnea, Dyspnea ORPHA:90042
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Exertional dyspnea, Methemoglobinemia OMIM:250800
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... OMIM:263400
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Ascites, Polycythemia, Transudative pleural e... ORPHA:284227
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Hypermanganesemia With Dystonia 1
Hepatomegaly, Polycythemia, Decreased liver function, Cirrhosis, Elevated hepatic transaminase OMIM:613280
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... ORPHA:231222
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Gaucher Disease, Type I
Hepatomegaly, Hypertension, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hypertens... OMIM:230800
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Heparin-Induced Thrombocytopenia
Myocardial infarction, Autoimmune thrombocytopenia, Pulmonary embolism, Cerebral ischemia ORPHA:3325
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... ORPHA:231401
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia OMIM:602079
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypertension, Cough, Tri... ORPHA:2414
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Respiratory insufficiency, Leukopenia, Monocytosis, Mitral regurgitati... OMIM:612541
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... ORPHA:1164
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Poems Syndrome
Thrombocytosis, Ascites, Lymphadenopathy, Polycythemia, Respiratory insufficiency due to muscle w... ORPHA:2905
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Hypoxemia, Increased mean corpuscular vo... ORPHA:232
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Hepatitis, Abnormal hemoglo... ORPHA:848
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Mediastinal lymphadenopathy, Pulmonary arterial hypertension, Cough, Decreased DLCO, Dyspnea OMIM:234810
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Hepatocellular Carcinoma
Hepatomegaly, Thrombocytosis, Hemobilia, Ascites, Polycythemia, Budd-Chiari syndrome, Hepatic nec... ORPHA:88673
Immunodeficiency 52
Bronchiectasis, Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hem... OMIM:617514
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Polycythemia, Micronodular cirrhosis, Splenomegaly, Ab... ORPHA:309854
Pulmonary Arteriovenous Malformation
Brain abscess, Hypoxemia, Telangiectasia, Heart murmur, Iron deficiency anemia, Palpitations, Epi... ORPHA:2038
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Hypoxemia, Mediastinal lymphadenopathy, Bronchiectasis, Pneumothorax, Pulmonary art... OMIM:612387
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Elevated hepatic transaminase, Lymphadenopathy, Ir... ORPHA:100076
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Pulmonary arterial hypertension, An... ORPHA:77259
Livedoid Vasculopathy
Leukocytosis, Hypertension, Ischemic stroke, Polycythemia, Anemia, Telangiectasia of the skin, Pa... ORPHA:542643
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... ORPHA:563
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Fumarase Deficiency
Polycythemia, Cholestasis, Hepatic failure OMIM:606812
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Jaundice ORPHA:33574
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Abnormal pattern of respiration, Hypertensive crisis, ... ORPHA:3287
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Pneumonia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:608971
Familial Thrombocytosis
Syncope, Thrombocytosis, Pulmonary arterial hypertension, Chronic myelogenous leukemia, Splenomeg... ORPHA:71493
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia, Dyspnea ORPHA:517
Tumor Predisposition Syndrome
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma OMIM:614327
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart... OMIM:613313
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal sarcoma, Hydronephrosis, Renal hypoplasia, Nephrotic syndrome, Rena... OMIM:143400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Tachypnea, Pulmonary arterial hypertension, Anemia, Thrombocytopenia OMIM:614857
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa ... OMIM:600376
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Acute Interstitial Pneumonia
Reduced hematocrit, Hypertension, Hypoxemia, Crackles, Bronchiectasis, Lymphadenopathy, Tachypnea... ORPHA:79126
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Von Hippel-Lindau Syndrome
Hypertension, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Abnormality of the liver OMIM:193300
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Leukopenia, Pulmonary arterial hypertension, Anemia, Respiratory failu... OMIM:613845
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cough, Cirrhosis, Exertional dyspnea, Decreased DLCO, Dyspnea OMIM:178500
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Epistaxis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepa... OMIM:612840
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative disorder, Eosinophilia OMIM:607685
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hepatic steatosis, Infertility, Azoospermia OMIM:615703
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Dyspnea, Anemia, Splenomegaly ORPHA:75563
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Micronodular cirrhosis, Jaundice OMIM:215600
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Exertional dyspnea, Transient ischemic a... OMIM:187300
Hurler-Scheie Syndrome
Hepatomegaly, Obstructive sleep apnea, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... OMIM:607015
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal cell carcinoma, Renal cyst, Large intestinal polyposis, Cutaneous leiomyo... OMIM:135150
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Anemia,... OMIM:209950
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:616829
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis, Leukopenia, Lymphadenopathy... ORPHA:809
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Vasculitis ORPHA:37748
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hyperte... ORPHA:422
Gaisböck Syndrome
Hypertension, Elevated diastolic blood pressure, Increased red blood cell count, Myocardial infar... ORPHA:90041
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Respiratory insufficiency, Splenomegaly ORPHA:139406
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Cholelithiasis, Epi... ORPHA:774
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Dyspnea, Sea-blue histiocytosis OMIM:607616
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Elevated hepatic trans... OMIM:617156
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Catastrophic Antiphospholipid Syndrome
Myocarditis, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Pulmonary arter... ORPHA:464343
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis ORPHA:139491
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis, Re... OMIM:613101
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T lymphocytop... OMIM:619164
Hepatomegaly, Respiratory insufficiency, Leukopenia, Cough, Splenomegaly, Myocardial infarction, ... ORPHA:108
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Pulmonary arterial hypertension, Pulmonic stenosis, Splenomegaly, ... OMIM:616028
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Pancreatic cysts, Polycythemia, Palpitations, Neoplasm of the pancreas... ORPHA:892
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
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
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Pulmonary arterial hyperten... ORPHA:1830
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Overlap Myositis
Hypertension, Leukopenia, Pulmonary arterial hypertension, Raynaud phenomenon, Elevated hepatic t... ORPHA:206572
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the skin, Juvenile gastrointestinal polyposis, Astrocytoma, Neo... ORPHA:480536
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Pancreatic adenocarcinoma, Renal cortical ad... OMIM:145001
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver di... ORPHA:79301
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Respiratory insufficiency, Elevated hepatic transaminase, Splenomegaly, Hepatosplen... OMIM:610333
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... ORPHA:288
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... OMIM:231680
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Abnormally loud pulmonic component of the second heart sound, Elevated jugular venous pressure, P... OMIM:265450
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Jaundice, Asthma, Exocrine pancreatic insu... OMIM:612714
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:610717
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Hypertension, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Adams-Oliver Syndrome
Leukopenia, Ascites, Congenital hepatic fibrosis, Pulmonary arterial hypertension, Cirrhosis, Gas... ORPHA:974
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonic stenosis, Splen... OMIM:608149
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Gaucher Disease, Type Ii
Hepatomegaly, Recurrent aspiration pneumonia, Apnea, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger, Short stature OMIM:609166
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Epistaxis, Nodular regenerative hyperplasia of l... OMIM:619463
Hepatoportal Sclerosis
Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Splenomegaly, Autoimmune thrombocyt... OMIM:300853
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Allergic rhinitis ORPHA:26137
Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Dyspnea, Hemolytic anemia, Arrhythmia, Abnormal leukocyte... ORPHA:98375
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Rhinitis, Anemia, Splen... ORPHA:507
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic fibrosis, Ascites, Elevated hepatic transaminase, Vacuo... ORPHA:275761
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Lipoyltransferase 1 Deficiency
Decreased liver function, Pulmonary arterial hypertension, Bradycardia, Elevated hepatic transami... OMIM:616299
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Splenomegal... OMIM:618534
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Stridor, Leukopenia, Mitral regurgitation, Pulmonary arterial hypert... ORPHA:505248
Hepatic steatosis, Pituitary corticotropic cell adenoma OMIM:300270
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma, Cortical tubers OMIM:600273
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Gaucher Disease Type 2
Hepatomegaly, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distress, Cardiac... ORPHA:77260
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Supraventricular arrhyth... ORPHA:99105
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hepatomegaly, Third degree atrioventricular block, Hypertension, Cervical... OMIM:619573
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... ORPHA:822
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... OMIM:150550
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Neonatal respiratory distress, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Gaucher Disease Type 3
Hepatomegaly, Pulmonary arterial hypertension, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:77261
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular carcinoma... ORPHA:231226
Testicular Germ Cell Tumor
Teratoma, Choriocarcinoma, Embryonal neoplasm, Azoospermia OMIM:273300
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Respiratory insufficiency, Ascites, Splenomegaly ORPHA:1046
Eisenmenger Syndrome
Brain abscess, Right ventricular failure, Syncope, Left-to-right shunt, Wheezing, Ventricular arr... ORPHA:97214
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Pneumonia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Sp... OMIM:603554
Rowley-Rosenberg Syndrome
Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Recurrent pneumonia... OMIM:268500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Cough, Splenomegaly, Dyspnea ORPHA:98293
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic microcyt... ORPHA:231214
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Congenital Alveolar Capillary Dysplasia
Asplenia, Annular pancreas, Pulmonary arterial hypertension, Patent ductus arteriosus, Absent gal... ORPHA:210122
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Vas... OMIM:308240
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Pneumonia, Lymphadeno... ORPHA:3392
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Intracranial hemorrhage, Acute leukemia, Lymphadenopathy, Bone marrow... ORPHA:3226
Yellow Nail Syndrome
Sinusitis, Bronchiectasis, Rhinitis, Biliary tract neoplasm, Pulmonary arterial hypertension, Hyp... ORPHA:662
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Respiratory distre... ORPHA:79312
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Tachypnea, Elevated jugula... ORPHA:2041
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hepatomegaly, Pancreatic hypoplasia, Lymphadenopathy, Retroperitoneal fibr... OMIM:602782
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Congenital Respiratory-Biliary Fistula
Abnormality of the liver ORPHA:2040
Leukocyte Adhesion Deficiency
Sinusitis, Leukocytosis, Thrombocytosis, Lymphocytic interstitial pneumonia, Pneumonia, Peritonit... ORPHA:2968
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Dysp... ORPHA:54057
Diffuse Alveolar Hemorrhage
Leukocytosis, Hypoxemia, Anemia, Cough, Dyspnea, Pulmonary venous hypertension, Increased DLCO, R... ORPHA:90060
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Respiratory insufficiency, Lymphadenitis, Apnea,... OMIM:618886
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Prolonged QT interval, Elevated hepatic transa... ORPHA:398124
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypoxemia, Hypochromia, Stomatocytosis, Tachypnea, Tachycard... ORPHA:71275
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Anemia, Abnormal... ORPHA:98850
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Lymphadenopathy, Melena, Splenomegaly, Acute pancreatitis, Panc... ORPHA:99827
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Hypertension, Hypoxemia, Cardiomegaly, Cholelithiasis, Splenomegaly, ... OMIM:603903
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Glycogen Storage Disease Vii
Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemoly... OMIM:232800
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Decreased liver function, Hepatic steatosis, Cholestasis, Elevated hepatic trans... OMIM:614300
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Intracranial hemorrhage, Neonatal death, Stillbirth, Spl... ORPHA:85212
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Klippel-Trénaunay Syndrome
Hepatomegaly, Respiratory insufficiency, Ascites, Patent ductus arteriosus, Gastrointestinal hemo... ORPHA:90308
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Vasculitis, Thrombocytopenia, Splenomegaly OMIM:615846
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Acquired Methemoglobinemia
Syncope, Hypoxemia, Palpitations, Methemoglobinemia, Tachycardia, Respiratory distress, Dyspnea, ... ORPHA:464453
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... OMIM:619048
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:613355
Renal cortical cysts ORPHA:79323
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Polycythemia, Cardiomegaly, Hepatoblastoma, Splenomega... ORPHA:116
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Immunodeficiency 32B
Sinusitis, Bronchiectasis, Pneumonia, Splenomegaly OMIM:226990
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Hepatic steatosis OMIM:606069
Transaldolase Deficiency
Hepatomegaly, Telangiectasia, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Patent ductus art... OMIM:606003
Wolman Disease
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatic failure ORPHA:75233
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Exertional dyspnea, Lymphocytosis, Acute monocytic leuk... ORPHA:514
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Patent ductus arterio... OMIM:612561
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia, Recurrent pneumonia, ... OMIM:619281
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Renovascular hypertensio... ORPHA:391487
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Adrenocortical carcinoma, Nephrocalcinosis, Gonadoblastoma, Hepatoblastoma,... OMIM:130650
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
Essential Thrombocythemia
Acute leukemia, Abnormal platelet morphology, Splenomegaly, Myocardial infarction, Transient isch... ORPHA:3318
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transa... OMIM:614921
Amyloidosis, Familial Visceral
Hepatomegaly, Hypertension, Cholestasis, Splenomegaly OMIM:105200
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Lung Cancer
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma OMIM:211980
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Splenomegaly, Pleura... ORPHA:545
Familial Dilated Cardiomyopathy
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... ORPHA:217607
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Exertional dyspnea, Congestive heart failure, Autoimmune hemolytic anemia ORPHA:90037
Young Syndrome
Azoospermia OMIM:279000
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Omenn Syndrome
Leukocytosis, Hepatomegaly, Pneumonia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, S... ORPHA:39041
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Reduced FEV1/FVC ratio, Pulmon... ORPHA:70591
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart f... OMIM:602390
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly OMIM:608885
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Recurrent pneumonia, Pa... OMIM:615122
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Patent ductus arteriosus, Splenomegaly, Thrombocytopenia, Jaundice ORPHA:290
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts OMIM:614866
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Respiratory insufficiency, Tachypnea, Cardiomegaly, Anisoc... OMIM:618278
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia, Diffuse ... OMIM:616050
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias ORPHA:1692
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy, Hypertension, Pulmonary arterial hypertension, Patent ductus arter... OMIM:613623
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatic ... OMIM:618805
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Obstructive sleep apnea, Leukopenia, Pulmonary arterial hypertension, Bone marrow h... ORPHA:2785
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Pulmonary insufficiency, Atelectasis, Pneumothorax, Pulmonary arterial hyper... ORPHA:70588
Polycythemia Vera
Hepatomegaly, Hypertension, Respiratory insufficiency, Acute leukemia, Budd-Chiari syndrome, Epis... ORPHA:729
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Pituitary adenoma, Carcinoid tumor, Renal angiomyolipoma, ... OMIM:610755
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Wheezing, Crackles, Third heart sound, Abnormal E... ORPHA:1329
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Restrictive ventilatory defect, Hypoxemia, Mediastinal lymphadenopathy, Bronchiecta... OMIM:181000
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Thrombocytosis, Ascites, Budd-Chiari syndrome, Iron deficiency anemia, Pneumonia, P... OMIM:226300
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Hepatitis, ... ORPHA:829
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... ORPHA:905
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Lymphadenopathy, Chronic rhinitis, Apnea, Anemia, Pulmonary arterial hypertension, ... ORPHA:667
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension OMIM:300887
Familial Pseudohyperkalemia
Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... OMIM:251880
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly OMIM:615438
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Pulmonary arterial hypertension, Anemia, Cholelithia... ORPHA:2072
Cryptogenic Organizing Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Neutrop... ORPHA:1302
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Stomatocytosis, Epistaxis, Splenomegaly, Hemolytic anemia OMIM:153670
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary arterial hypertensio... OMIM:265400
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Immunodeficiency 54
Hepatomegaly, Respiratory insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer ce... OMIM:609981
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Respiratory ... OMIM:259720
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Bone marrow hyp... ORPHA:86839
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Respiratory insufficiency due to muscle weakness, Choleli... OMIM:615512
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Meningocele, Renal cortical cysts, Renal dysplasia, Hyperechogenic kidneys, Renal in... ORPHA:397715
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Macrovesicular hep... OMIM:256810
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Tachycardia, Splenomegaly, Exertional dyspnea, Autoimmune hemolytic a... ORPHA:90033
Harrod Syndrome
Hypospadias, Renal cortical microcysts OMIM:601095
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele... OMIM:619386
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
C Syndrome
Renal cortical cysts OMIM:211750
Relapsing Fever
Leukocytosis, Leukopenia, Epistaxis, Anemia, Tachycardia, Cough, Neutrophilia, Elevated hepatic t... ORPHA:91547
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... OMIM:602347
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Limited Cutaneous Systemic Sclerosis
Mucosal telangiectasiae, Pulmonary arterial hypertension, Telangiectasia of the skin ORPHA:220402
Right ventricular failure, Syncope, Myocarditis, Pericarditis, Pulmonary arterial hypertension, R... ORPHA:801
Spinocerebellar Ataxia 32