Not currently registered for phenotyping at IMPC

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

Gene Summary

integrin beta 3
platelet glycoprotein IIIa (GP3A),  CD61

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 Itgb3 mutations

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

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

The table below shows human diseases associated to Itgb3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Itgb3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding ... OMIM:209050
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... ORPHA:231393
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time, Giant platelets OMIM:608404
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet ... OMIM:187950
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... OMIM:614009
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Myocardial infarction, L... OMIM:155100
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Intrinsic Factor Deficiency
Megaloblastic anemia, Increased mean corpuscular volume, Megaloblastic erythroid hyperplasia, Mal... OMIM:261000
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation, Raynaud phenomenon, Hypertension ORPHA:401945
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Pyloric stenosis, Prolonged bleeding time OMIM:188025
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Petechiae... OMIM:612840
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Prothrombin Deficiency, Congenital
Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Prolonged prothrombin tim... OMIM:613679
Primary Myelofibrosis
Ecchymosis, Abnormal bleeding, Hemangioma, Thrombocytosis, Purpura, Leukocytosis, Extramedullary ... ORPHA:824
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia, Gastrointestinal infarctions, Vo... ORPHA:1059
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Neutropenia, Thrombocytopenia, ... ORPHA:238459
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Dengue Fever
Skin rash, Pruritus, Gastrointestinal hemorrhage, Abdominal pain, Hypotension, Epistaxis, Hepatom... ORPHA:99828
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Oral cavity bleeding, Abnormal erythrocyte morphology, Melena, Anisocytos... ORPHA:98870
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Amenorrhea, Purpura, Lymphopenia, Impotence, Neutropeni... OMIM:604250
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... OMIM:153640
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Neoplasm, Anemia, Sinusitis, Eczema, Otit... ORPHA:906
Acute Promyelocytic Leukemia
Hematuria, Neutropenia, Anorexia, Pancytopenia, Metrorrhagia, Leukopenia, Anemia, Lymphadenopathy... ORPHA:520
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia, Increased cir... OMIM:170100
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Gray matter heterotopia, Patent ductus arteriosus, Hepatomegaly, T... OMIM:617397
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Neutropenia, Jaundice, Decreased liver function, Anemia, Lymp... ORPHA:540
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia OMIM:617443
Crimean-Congo Hemorrhagic Fever
Skin rash, Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdomin... ORPHA:99827
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Gastrointestinal hemorrhage, Purpura, Viral hepatitis, Proteinuri... ORPHA:91138
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Boutonneuse Fever
Skin rash, Renal insufficiency, Increased circulating IgM level, Elevated hepatic transaminase, A... ORPHA:83313
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Prolonged bleeding time, ... ORPHA:809
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal ly... OMIM:615934
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hematuria, Cutis marmorata, Sinusitis, Myocarditis, Myositis, Transient ischemic attac... ORPHA:183
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis OMIM:614076
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... ORPHA:182050
Aicardi-Goutieres Syndrome 1
Multiple gastric polyps, Acrocyanosis, Elevated hepatic transaminase, Purpura, Chilblains, Hepato... OMIM:225750
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Hemangioma, Atrial septal defect, Prolonged bleeding time, He... ORPHA:90308
Drug-Induced Lupus Erythematosus
Hematuria, Pericarditis, Pericardial effusion, Thrombocytopenia, Petechiae, Malar rash, Anemia, S... ORPHA:231111
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Thrombocytopenia, Petechiae, Facial palsy, Anemia, Splenomegaly, O... OMIM:611490
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... OMIM:614074
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hypertension, Increased mean corpuscu... ORPHA:90044
Sepsis In Premature Infants
Neutropenia, Jaundice, Decreased liver function, Diarrhea, Anemia, Vomiting, Cyanosis, Purpura, R... ORPHA:90051
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Left ventricular hypertrophy, Br... OMIM:619048
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Abnormality of the hepatic vasculature, Punctate vasculitis skin lesions, Gastrointest... ORPHA:247691
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Ebola Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure,... ORPHA:319218
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Hypotension, Erectile dysfunction, Uve... ORPHA:3452
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Bruising s... OMIM:614075
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Epistaxis, Increase... OMIM:153670
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Subcutaneous hemorrhage, Myeloid leukemia, Joint hemorrhage, Poor wound heal... ORPHA:331
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Ankle flexion contracture, Increased... OMIM:619040
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Scaling skin, Pneumonia, Diarrhea, Sinusitis, Shock, Myositis, Myocarditi... ORPHA:36234
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in presence of a... ORPHA:1959
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Leukocytosis, Chronic otitis media, Bruising su... ORPHA:3226
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, Bradycardia OMIM:614302
Aggressive Systemic Mastocytosis
Pruritus, Maculopapular exanthema, Neutropenia, Anorexia, Pancytopenia, Decreased liver function,... ORPHA:98850
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Myelodysplasia, Abnormal bleeding, Epistaxis, Thrombocytopeni... ORPHA:721
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Acquired Purpura Fulminans
Acrocyanosis, Skin rash, Internal hemorrhage, Intracranial hemorrhage, Neoplasm, Thrombocytopenia... ORPHA:49566
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Skin rash, Hemolytic anemia, Pericarditis, Thyroiditis, Abnormal lymphocyte morphology, Abnormali... ORPHA:99867
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Abnormal thrombocyte morphology, Hypocalcemia, Splenomegaly ORPHA:172
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Pericardial effusion, Discoid lupus rash, Diarrhea, Leukopenia, Vomiting, R... ORPHA:93552
Sweet Syndrome
Neoplasm, Breast carcinoma, Oligoarthritis, Anemia, Neutrophilia, Myositis, Pyoderma gangrenosum,... ORPHA:3243
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Splenomegal... ORPHA:158029
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Maculopapular exanthema... OMIM:142680
Thrombocytopenia 5
Epistaxis, Neutropenia, Thrombocytopenia, Petechiae, Anemia, Bruising susceptibility OMIM:616216
Autoerythrocyte Sensitization Syndrome
Pruritus, Thrombocytosis, Joint hemorrhage, Impaired platelet adhesion, Gastrointestinal hemorrha... ORPHA:324636
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly... ORPHA:231401
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased speci... ORPHA:3261
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Graft Versus Host Disease
Scaling skin, Pneumonia, Maculopapular exanthema, Jaundice, Chronic hepatitis, Diarrhea, Skeletal... ORPHA:39812
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... ORPHA:325
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Pseudobulbar paralysis, Acute kidney injury, In... ORPHA:449285
Mirage Syndrome
Myelodysplasia, Microphallus, Intracranial hemorrhage, Hypergonadotropic hypogonadism, Lymphopeni... OMIM:617053
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Cutis marmorata, Leukopenia, Anemia, Eczema, Lymphadenopathy, Purpura, R... OMIM:615688
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Waldenström Macroglobulinemia
Anorexia, Retinal hemorrhage, Cutis marmorata, Diarrhea, Renal insufficiency, Lymphadenopathy, Pu... ORPHA:33226
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Congenital Bile Acid Synthesis Defect Type 3
Pruritus, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver ... ORPHA:79302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Th... OMIM:615285
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Purpura, Nephrotic range proteinuria, Hepatomegaly,... OMIM:613496
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ... ORPHA:2198
Congenital Fibrinogen Deficiency
Abnormal bleeding, Splenic rupture, Internal hemorrhage, Abdominal pain, Micropenis, Abnormal umb... ORPHA:335
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Hypochromic anemia, Joint hemorrhage, Aortic regurgitation, Gas... ORPHA:99147
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Congenital Bile Acid Synthesis Defect Type 1
Pruritus, Cirrhosis, Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhag... ORPHA:79301
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Purpura, Proteinuria, Retinal detachment, Anemia, Vasculitis, Art... ORPHA:375
Immune-Mediated Necrotizing Myopathy
Palpitations, Skin rash, EMG: myopathic abnormalities, Scapular winging, Dysphagia, Neoplasm, Pro... ORPHA:206569
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Marburg Hemorrhagic Fever
Skin rash, Abnormal bleeding, Hematuria, Elevated hepatic transaminase, Gastrointestinal hemorrha... ORPHA:99826
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Hematuria, Acute kidney injury, Abdominal pain, Re... ORPHA:54057
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Pseudo-Torch Syndrome 1
Pachygyria, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Thrombocytopenia, Decreased li... OMIM:251290
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of in... OMIM:300367
Kaposiform Lymphangiomatosis
Abnormal bleeding, Multiple renal cysts, Epidural hemorrhage, Enlarged kidney, Subconjunctival he... ORPHA:464329
Diffuse Cutaneous Mastocytosis
Pruritus, Gastrointestinal hemorrhage, Hypotension, Erythroderma, Hepatomegaly, Leukemia, Malabso... ORPHA:79456
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Essential Thrombocythemia
Prolonged bleeding time, Myocardial infarction, Transient ischemic attack, Splenomegaly, Abnormal... ORPHA:3318
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Cutaneous Small Vessel Vasculitis
Skin rash, Purpura, Erythema, Cutis marmorata, Vasculitis, Recurrent skin infections, Urticaria ORPHA:889
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Erythema, Erysipelas, Diarrhea, Vomiting, Myositis, Abnorma... ORPHA:32960
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Abdominal pain, Reticulocytosis, Restrictive... ORPHA:822
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Cutaneous Collagenous Vasculopathy
Skin rash, Pruritus, Vascular skin abnormality, Diffuse telangiectasia, Prominent superficial blo... ORPHA:280779
Congenital Sialidosis Type 2
Abnormal heart morphology, Yellow/white lesions of the retina, Umbilical hernia, Hepatomegaly, Pe... ORPHA:93400
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Tufted Angioma
Facial hemangioma, Purpura, Thrombocytopenia, Petechiae, Anemia, Neoplasm of the skin ORPHA:1063
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Hepatomegaly, Thrombocytopenia, Subcutaneous hemorrhage, Abnor... ORPHA:1980
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Ménétrier Disease
Multiple gastric polyps, Hypochromic microcytic anemia, Malnutrition, Gastrointestinal hemorrhage... ORPHA:2494
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Osteopenia, Hypocalcemia OMIM:619073
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Carcinoid Syndrome
Lack of bowel sounds, Palpitations, Intestinal carcinoid, Right ventricular failure, Elevated hep... ORPHA:100093
Cinca Syndrome
Purpura, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Abnormal granulocy... ORPHA:1451
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen ovale, Tetralogy o... OMIM:601005
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Hemolytic anemia, Elevated hepatic transaminase, Bronchiectasis, A... ORPHA:1572
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Patent ductus arteriosus, N... OMIM:612541
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemoglobin F, Macrocytic ... OMIM:612561
Primary Familial Polycythemia
Abnormal bleeding, Abdominal pain, Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Neutropenia, Hepatomegaly, Jaundice, Pancytopenia, P... ORPHA:79477
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Acrocyanosis, Gastrointestinal hemorrhage, Purpura, Abdominal pain, Erythema, Hepato... ORPHA:343
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Q Fever
Hematuria, Pericarditis, Pericardial effusion, Abnormal left ventricular function, Pneumonia, Mac... ORPHA:781
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Postural hypotension with compensatory tachycardia, X... ORPHA:85443
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Peritonitis, Acute kidney injury, Pneumonia, Anorexia, Hypovolemic shock, Myocarditis, Vomiting, ... ORPHA:810
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Increased circulating antibody level, Lymphopenia, Pann... OMIM:617591
Congenital Factor Xi Deficiency
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleeding after dental... ORPHA:329
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Monocytosis, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia, Ecz... OMIM:616871
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Juvenile Dermatomyositis
Skin rash, Pruritus, Pericarditis, Erythema, Myositis, Cardiomyopathy, Bundle branch block, Angin... ORPHA:93672
Peutz-Jeghers Syndrome
Neoplasm, Breast carcinoma, Anemia, Vomiting, Multiple renal cysts, Gastrointestinal infarctions,... ORPHA:2869
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Purpura, Dysphagia, Hepatomegaly, Thrombocytopenia, Petechiae... OMIM:608013
Antisynthetase Syndrome
Skin rash, Pruritus, Aortic regurgitation, Dysphagia, Telangiectasia of the skin, Neoplasm, Xeros... ORPHA:81
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
X-Linked Lymphoproliferative Disease
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Decreased liver fu... ORPHA:2442
Skin rash, Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Constipation, Epistaxis, Hepa... ORPHA:99745
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Lujo Hemorrhagic Fever
Skin rash, Gastrointestinal hemorrhage, Acute hepatic failure, Diarrhea, Cardiac arrest, Nausea a... ORPHA:319213
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Aminoaciduria, Jaundice, Myopathy, Hepatosplenomegaly ORPHA:33574
Schnitzler Syndrome
Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Lymphoma, Hepatomegaly, Anemi... ORPHA:37748
Fabry Disease
Tenesmus, Angiokeratoma, Arrhythmia, Abdominal pain, Angina pectoris, Urinary mulberry cells, Nau... OMIM:301500
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Livedoid Vasculopathy
Ischemic stroke, Poor wound healing, Leukocytosis, Polycythemia, Superficial dermal perivascular ... ORPHA:542643
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Idiopathic Hypereosinophilic Syndrome
Pruritus, Intracranial hemorrhage, Vasculitis in the skin, Generalized lymphadenopathy, Pulmonary... ORPHA:3260
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas, Purpura ORPHA:529
Rift Valley Fever
Abnormal retinal artery morphology, Gastrointestinal hemorrhage, Purpura, Bruising susceptibility... ORPHA:319251
Refractory Celiac Disease
Osteoporosis, Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Inflammato... ORPHA:398063
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Myasthenia Gravis
Acrocyanosis, Pure red cell aplasia, Hemolytic anemia, Dysphagia, Rheumatoid arthritis, Hashimoto... ORPHA:589
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst... OMIM:613156
Purpura Simplex
Menorrhagia, Bruising susceptibility, Epistaxis, Purpura OMIM:179000
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Splenic rupture, Intr... ORPHA:98878
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Bone mar... ORPHA:86839
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Pericarditis, Pneumonia, Anorexia, Increased circulating IgG level, Hypersplenism, Myocarditis, A... ORPHA:1304
Meningococcal Meningitis
Skin rash, Purpura, Hypotension, Projectile vomiting, Papilledema, Anorexia, Petechiae, Encephali... ORPHA:33475
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Proteinuria, Increased circulating antibody level, Lymp... ORPHA:69126
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hypertension OMIM:616733
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Acquired Idiopathic Sideroblastic Anemia
Neutropenia, Pancytopenia, Myelodysplasia, Erythroid hyperplasia, Thrombocytopenia, Splenomegaly,... ORPHA:75564
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Pruritus, Arrhythmia, Chronic leukemia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia ... ORPHA:98292
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Acute monocytic leukemia, Thrombocytosis, Increased circ... OMIM:202700
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Microscopic Polyangiitis
Peritonitis, Skin rash, Hematuria, Pericarditis, Erythema, Diarrhea, Cutis marmorata, Sinusitis, ... ORPHA:727
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Iga Nephropathy, Susceptibility To, 1
Hematuria, Purpura, Hypertension, Stage 5 chronic kidney disease, Nephritis, Proteinuria OMIM:161950
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Behçet Disease
Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Anorexia, Pulmonary embolism, Cerebral ... ORPHA:117
Tachycardia, Hypertension, Splenomegaly OMIM:602079
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Pyoderma Gangrenosum
Myeloid leukemia, Pustule, Myelodysplasia, Inflammation of the large intestine, Increased circula... ORPHA:48104
Complement Component 4A Deficiency
Vasculitis, Cutaneous photosensitivity, Glomerulonephritis, Purpura OMIM:614380
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Increased circul... OMIM:313900
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Alpha-Heavy Chain Disease
Hypocalcemia, Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Autoimmune Hepatitis
Thyroiditis, Sclerosing cholangitis, Jaundice, Increased circulating IgG level, Cirrhosis, Ascite... ORPHA:2137
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Albers-Schönberg Osteopetrosis
Hypocalcemia, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Anemia, ... ORPHA:53
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Gastrointestinal hemorrhage, Abdominal pain, Neonata... ORPHA:1414
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Gastr... OMIM:201475
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Autosomal Dominant Severe Congenital Neutropenia
Hemangioma, Myelodysplasia, Monocytosis, Abdominal pain, Periodontitis, Lymphopenia, Pneumonia, N... ORPHA:486
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura OMIM:612336
Idiopathic Aplastic Anemia
Epistaxis, Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Bone marrow hypocellul... ORPHA:88
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Omenn Syndrome
Pruritus, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocyte morphology, Chronic diarrh... ORPHA:39041
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhag... ORPHA:44890
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Rickets, Tooth abscess, Osteomalacia ORPHA:89937
Hemophilia B
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage OMIM:306900
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Dysphagia, Intestinal pseudo-obstruction, ... ORPHA:85446
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Decreased liver function, Skeletal muscle atrophy, Vomiting, Cardiomyopathy, H... ORPHA:26791
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Hemophilia A With Vascular Abnormality
Persistent bleeding after trauma, Capillary fragility, Joint hemorrhage, Gastrointestinal hemorrh... OMIM:306800
Lassa Fever
Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Menometrorrhagia, Thrombocytopenia, Conju... ORPHA:99824
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Increased urinary p... OMIM:618892
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Decreased muscle... ORPHA:263297
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... OMIM:181350
Tangier Disease
Hepatomegaly, Myocardial infarction, Distal amyotrophy, Left ventricular hypertrophy, Splenomegal... OMIM:205400
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation, Gastric ulcer, Esophageal ulceration, Duod... OMIM:618372
Burkitt Lymphoma
Neoplasm of the oral cavity, Gastrointestinal hemorrhage, Abdominal pain, Decreased proportion of... ORPHA:543
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Panniculitis, Flexion contracture, Erythema, Hepatomegaly, Skeletal ... OMIM:619183
Aicardi-Goutières Syndrome
Acrocyanosis, Elevated hepatic transaminase, Micropenis, Chronic lymphatic leukemia, Panniculitis... ORPHA:51
Hermansky-Pudlak Syndrome 11
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... OMIM:619172
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix, Pancytopenia, Retinal telangiectasia, Portal hyper... OMIM:617341
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Prolonged bleeding time, Abdominal pain, Hematochezia, Cardi... OMIM:203300
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Granulomatosis With Polyangiitis
Skin rash, Hematuria, Pericarditis, Cerebral ischemia, Sinusitis, Renal insufficiency, Otitis med... ORPHA:900
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Stormorken-Sjaastad-Langslet Syndrome
Abnormal thrombocyte morphology, Asplenia, Anemia, Purpura ORPHA:3204
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Peritonitis, Bronchiectasis, Pneumonia, Maculopapular exanthema, Neutropenia, Sinusitis, Myositis... ORPHA:228119
Stevens-Johnson Syndrome
Erythema, Abnormality of the urethra, Diarrhea, Anemia, Renal insufficiency, Abnormal myocardium ... ORPHA:36426
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Polycythemia Vera
Pruritus, Myelodysplasia, Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris... ORPHA:729
Methylcobalamin Deficiency Type Cble
Feeding difficulties, Neutropenia, Hypertension, Pancytopenia, Increased mean corpuscular volume,... ORPHA:2169
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture OMIM:615883
Sézary Syndrome
Pruritus, Erythroderma, Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Lymphoma, ... ORPHA:3162
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Lymphocytosis, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Uveitis, Vitreoretinop... OMIM:193235
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal tr... ORPHA:93160
3-Methylglutaconic Aciduria, Type Viii
Feeding difficulties, Neutropenia, Bradycardia, Poor suck, 3-Methylglutaconic aciduria OMIM:617248
Central Retinal Vein Occlusion
Pigmentary retinopathy, Papilledema, Cystoid macular edema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Budd-Chiari syndrome, Anorexia, Neoplasm, Jaun... ORPHA:88673
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopenia, Hepatitis, Anemia, Splenomegal... ORPHA:848
Noonan Syndrome 8
Atrial septal defect, Feeding difficulties, Ventricular septal defect, Palmoplantar cutis laxa, P... OMIM:615355
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Decreased circulating IgG2 leve... OMIM:610163
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Left ventricular hypertrophy, Prolonged QT inte... ORPHA:251274
Neonatal Lupus Erythematosus
Skin rash, Heart block, Maculopapular exanthema, Neutropenia, Pancytopenia, Anemia, Thrombocytope... ORPHA:398124
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Isolated Polycystic Liver Disease
Multiple renal cysts, Gastrointestinal hemorrhage, Abdominal pain, Polycystic liver disease, Gast... ORPHA:2924
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Chronic oral candidiasis, D... OMIM:606367
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Thrombocytopenia 2
Thrombocytopenia, Bruising susceptibility OMIM:188000
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Hematuria, Pulmonary embolism, Retinal telangiectasia, Cerebral hemo... ORPHA:774
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... OMIM:614077
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdominal pain, Intracran... ORPHA:340
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Left ve... OMIM:615474
Eosinophilic Fasciitis
Acrocyanosis, Muscular edema, Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, ... ORPHA:3165
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Neutropenia, Macrothrombocytopenia, Thrombocytopenia,... OMIM:603585
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymphopenia, Recurrent skin ... ORPHA:90363
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thro... OMIM:259700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased... ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Leukocytosis, ST segment depression, Nausea, Hypertension, Myocardial infarction... ORPHA:90065
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteopetrosis, Pancytopenia, Thro... OMIM:259720
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Chronic mucocutaneous candidia... ORPHA:36913
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Autoinflammation With Infantile Enterocolitis
Skin rash, Urticaria, Villous atrophy, Secretory diarrhea, Diffuse alveolar hemorrhage, Pancytope... OMIM:616050
Pseudoxanthoma Elasticum
Skin rash, Pruritus, Abnormal endocardium morphology, Retinal hemorrhage, Striae distensae, Exces... ORPHA:758
Reticulocytosis, Cardiomegaly, Anemia, Vomiting, Fat malabsorption, Cirrhosis, Abnormality of ret... ORPHA:14
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, ... OMIM:611590
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Prolonged bleeding time, Chronic oral candidiasis, Reduced natural killer ce... OMIM:608233
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Chédiak-Higashi Syndrome
Skin rash, Vacuolated lymphocytes, Recurrent bacterial skin infections, Pericardial effusion, Neu... ORPHA:167
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Erythrocytosis, Familial, 2
Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mass, Cerebral ... OMIM:263400
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Biliary... ORPHA:2552
Vici Syndrome
Cutaneous anergy, Penile hypospadias, Gray matter heterotopia, Decreased proportion of CD4-positi... OMIM:242840
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Right ventricular hypertrophy, Hypertension OMIM:268500
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
African Iron Overload
Peritonitis, Micronodular cirrhosis, Abnormal heart morphology, Esophageal carcinoma, Viral hepat... ORPHA:139507
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Myocardial fibrosis, Joint he... ORPHA:465
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:613554
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production OMIM:224100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Myo... OMIM:253600
Factor Xiii, B Subunit, Deficiency Of
Prolonged bleeding after surgery, Abnormal bleeding, Bruising susceptibility, Abnormal umbilical ... OMIM:613235
Skin rash, Pruritus, Maculopapular exanthema, Erythema, Diarrhea, Vomiting, Lymphadenopathy, Cerv... ORPHA:324625
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Gastrointestinal hemorrhage, Skeletal muscle atrophy, Spina bifida occulta, Mitral va... ORPHA:230839
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal left ventricular function, Lower limb hypertonia, Skeletal... ORPHA:3208
Seborrheic dermatitis, Osteomyelitis, Gastrointestinal hemorrhage, Eczematoid dermatitis, Hepatom... ORPHA:2796
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Hepato... OMIM:618495
Immunoglobulin A Vasculitis
Skin rash, Hematuria, Erythema, Anorexia, Renal insufficiency, Purpura, Gastrointestinal infarcti... ORPHA:761
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Thrombocytopenia, Hydronephrosis, Left ventricular hypertrophy, Anemia, Hypospadia... OMIM:611209
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Pigmentary retinopathy, Hepatic steatosis, Acute hepatic failure, ... ORPHA:71212
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Pruritus, Elevated hepatic transa... ORPHA:905
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Coproporphyria, Hereditary
Abdominal pain, Constipation, Hypertension, Hepatomegaly, Jaundice, Tachycardia, Diarrhea, Spleno... OMIM:121300
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation, Ag... ORPHA:47
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Muscle mounding, Feeding difficulties, Hepatic steatosis, Muscular... OMIM:613327
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Acute kidney injury, Purpura, Reticulocytosis, Anuria, Hyperte... OMIM:235400
Acute Liver Failure
Skin rash, Abnormal bleeding, Hepatocellular necrosis, Gastrointestinal hemorrhage, Elevated hepa... ORPHA:90062
Functional intestinal obstruction, Gastrointestinal hemorrhage, Abnormal rectum morphology, Hyper... ORPHA:251992
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomegal... OMIM:619167
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Hepatomegaly, Hypoplasia of t... OMIM:603554
Kasabach-Merritt Syndrome
Hemangioma, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Abdominal pain, Capillar... ORPHA:2330
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly OMIM:269840
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Osteomalacia, Pathologic fracture OMIM:179800
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Angina pectoris, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:265400
Necrotizing Enterocolitis
Peritonitis, Abnormal heart morphology, Hypotension, Leukocytosis, Neutropenia, Thrombocytopenia,... ORPHA:391673
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Fabry Disease
Conjunctival telangiectasia, Angiokeratoma, Hematuria, Abnormal endocardium morphology, Anorexia,... ORPHA:324
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Pulmonary embolism, Subcutaneous hemorrhage, Retinopathy, Skin ulcer ORPHA:743
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Facial paralysis, Panc... OMIM:259710
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Bruising susceptibility, Abnormal number of dense granules OMIM:614072
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Congenital thrombocytopenia, Petechiae, Aplastic anemia, Amegakary