Not currently registered for phenotyping at IMPC

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

Gene Summary

integrin beta 3
CD61,  platelet glycoprotein IIIa (GP3A)

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
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... ORPHA:231393
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... OMIM:612201
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time OMIM:608404
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... OMIM:124900
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Thrombocythemia 1
Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... OMIM:187950
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... OMIM:173470
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... OMIM:155100
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... OMIM:614009
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... OMIM:187800
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Cardiomegaly OMIM:227150
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... OMIM:137560
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... OMIM:314050
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... OMIM:605735
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia, Hypertension, Raynaud phenomenon ORPHA:401945
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... OMIM:139090
Blue Rubber Bleb Nevus
Intestinal bleeding, Microcytic anemia, Gastrointestinal infarctions, Volvulus, Prolonged bleedin... ORPHA:1059
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Autoimmune Lymphoproliferative Syndrome, Type Iia
Urticaria, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Nephrotic syndrome, Spleno... OMIM:603909
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Pyloric stenosis, Prolonged bleeding time OMIM:188025
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... OMIM:601709
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal bleeding, Anorexia, Extramedullary ... ORPHA:824
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal bleeding, Recurrent skin infections... OMIM:612840
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Giant ... ORPHA:238459
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... OMIM:601399
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Wiskott-Aldrich Syndrome
Keratitis, Urticaria, Otitis media, Eczema, Sudden cardiac death, Hematochezia, Spontaneous hemat... ORPHA:906
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Post-partum hemorrhage, Anisocytosis, Oral cavity blee... ORPHA:98870
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Dengue Fever
Petechiae, Hepatomegaly, Cerebral hemorrhage, Skin rash, Bruising susceptibility, Abdominal pain,... ORPHA:99828
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... ORPHA:85451
Fechtner syndrome
Neutrophil inclusion bodies, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Leukocyte i... OMIM:153640
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:98881
Acute Promyelocytic Leukemia
Hematuria, Pancytopenia, Lymphadenopathy, Metrorrhagia, Abnormal bleeding, Oral cavity bleeding, ... ORPHA:520
Prolidase Deficiency
Increased circulating antibody level, Petechiae, Hepatomegaly, Diffuse telangiectasia, Splenomega... OMIM:170100
Hemochromatosis, Type 3
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Arthritis, Elevated... OMIM:604250
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hemophagocytosis, Abnormal renal physiology, Maculopapular exanthema, Erythroderma,... ORPHA:540
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... ORPHA:274
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Diarrhea, Vomiting, Proteinuria, H... ORPHA:85450
Cryoglobulinemic Vasculitis
Petechiae, Viral hepatitis, Hepatomegaly, Abdominal pain, Splenomegaly, Cutis marmorata, Mediasti... ORPHA:91138
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:617443
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Boutonneuse Fever
Petechiae, Abdominal pain, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopen... ORPHA:83313
Portal Hypertension, Noncirrhotic, 2
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... OMIM:619463
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Pustule, Skin rash, Raynaud phenomenon, Anemia, Increased circulating IgA level, Leu... OMIM:615934
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Mixed Connective Tissue Disease
Gastritis, Gastroesophageal reflux, Skin rash, Splenomegaly, Hepatomegaly, Leukopenia, Xerostomia... ORPHA:809
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Myofibrillar Myopathy 10
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Prolon... OMIM:619040
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Drug-Induced Lupus Erythematosus
Petechiae, Anemia, Hematuria, Prolonged QTc interval, Serositis, Malar rash, Pericarditis, Thromb... ORPHA:231111
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Cutis marmorata, Hematuria, Myocarditis, Myocardial infarction, Increased inflammatory... ORPHA:183
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Klippel-Trénaunay Syndrome
Hepatomegaly, Atrial septal defect, Hemangioma, Pulmonary embolism, Prolonged bleeding time, Abno... ORPHA:90308
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility OMIM:614076
Pseudo-Torch Syndrome 2
Petechiae, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Gray matter heteroto... OMIM:617397
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Myh9-Related Disease
Neutrophil inclusion bodies, Bruising susceptibility, Menorrhagia, Congenital thrombocytopenia, I... ORPHA:182050
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... OMIM:614072
Sepsis In Premature Infants
Hepatomegaly, Diarrhea, Vomiting, Reversible renal failure, Gastrointestinal dysmotility, Jaundic... ORPHA:90051
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Ventricular hypertrophy, Congestive heart failure, Br... OMIM:619048
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Skin rash, Raynaud ... ORPHA:247691
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopa... OMIM:619644
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Optic atrophy... OMIM:611490
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Petechiae, Skin rash, Abnormally low T cell recep... OMIM:619374
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... ORPHA:90044
Aggressive Systemic Mastocytosis
Abdominal cramps, Urticaria, Maculopapular exanthema, Diarrhea, Increased proportion of CD25+ mas... ORPHA:98850
Acquired Purpura Fulminans
Neoplasm, Acrocyanosis, Skin rash, Hepatic failure, Macular purpura, Intracranial hemorrhage, Sho... ORPHA:49566
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Whipple Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Anemia, Diarrhea, Mediastina... ORPHA:3452
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Bruising susceptibility, Splenomegaly, Prolonged bleeding after dental extraction, Men... OMIM:153670
Aicardi-Goutieres Syndrome 1
Petechiae, Hepatomegaly, Multiple gastric polyps, Splenomegaly, Erythema, Chilblains, Vasculitis,... OMIM:225750
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Bradycardia, Atrial fibrillation, Proximal amyotrophy OMIM:614302
Congenital Factor Xiii Deficiency
Joint hemorrhage, Persistent bleeding after trauma, Hepatic failure, Prolonged bleeding after den... ORPHA:331
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Jaundice, Bruising susceptibilit... ORPHA:1959
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Increased circulating myel... ORPHA:36234
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of the menstrual cycle, Mye... ORPHA:721
Autoimmune Lymphoproliferative Syndrome
Urticaria, Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymp... ORPHA:3261
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Hypocalcemia, Splenomegaly, Reduced bone mineral density ORPHA:172
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Bruising susceptibility, Splenomegaly, Leukocytosis, Myeloproliferative disorder, I... ORPHA:3226
Wiskott-Aldrich Syndrome
Melena, Lymphoproliferative disorder, Eczema, Diarrhea, Decreased mean platelet volume, Large ves... OMIM:301000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Sweet Syndrome
Neutrophilia, Acne inversa, Acne, Pyoderma gangrenosum, Oligoarthritis, Sterile abscess, Inflamma... ORPHA:3243
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Diarrhea, Vomiting, Hematuria, Proteinuria, Microangiopathic hemolytic anemia... ORPHA:93552
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Hepatomegaly, Hepatic amyloidosis, Skin rash, Abdominal pain, Cervical lymphadeno... OMIM:142680
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... ORPHA:326
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... ORPHA:231401
Thrombocytopenia 5
Petechiae, Bruising susceptibility, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... OMIM:614470
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Sea-Blue Histiocytosis
Blepharitis, Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Re... ORPHA:158029
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Marburg Hemorrhagic Fever
Odynophagia, Pancreatitis, Maculopapular exanthema, Diarrhea, Vomiting, Uveitis, Pericarditis, Re... ORPHA:99826
Mirage Syndrome
Petechiae, Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Hypergonadotropic hypogona... OMIM:617053
Waldenström Macroglobulinemia
Urticaria, Hepatomegaly, Cutis marmorata, Diarrhea, Gastrointestinal hemorrhage, Leukemia, Malabs... ORPHA:33226
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphoproliferative disorder, Eczema, Cutis marmorata, Optic atrophy, Esophageal va... OMIM:615688
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, D... ORPHA:324636
Pseudo-Torch Syndrome 1
Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, Polymicrogyria, Elevated hepatic... OMIM:251290
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Graft Versus Host Disease
Recurrent gastroenteritis, Hemophagocytosis, Maculopapular exanthema, Diarrhea, Vomiting, Pneumon... ORPHA:39812
Snakebite Envenomation
Muscle fiber necrosis, Neuromuscular dysphagia, Pseudobulbar paralysis, Abnormal bleeding, Intrac... ORPHA:449285
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Right ventricular hypertrophy, Abnorm... ORPHA:335
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... ORPHA:853
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Abnormal esophagus physiology, Dysphagia... ORPHA:2198
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... OMIM:614074
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Abnormal bleeding, Cirrhosis, Biliary tract abnormalit... ORPHA:79301
Diffuse Cutaneous Mastocytosis
Urticaria, Flushing, Hepatomegaly, Lymphocytosis, Abdominal pain, Dermatographic urticaria, Myelo... ORPHA:79456
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Simple Cryoglobulinemia
Multiple myeloma, Vascular skin abnormality, Monoclonal elevation of circulating IgA, Myocardial ... ORPHA:91139
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Immunodeficiency, Common Variable, 6
Hepatomegaly, Nephrotic range proteinuria, Decreased specific pneumococcal antibody level, Macros... OMIM:613496
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Constipation, Diarrhea, Vomiting, Uveitis, Abnormal myocardium morphology, Pericarditis, Splenome... ORPHA:32960
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Hematuria, Vasculitis, Arthritis, Purpura, Renal insufficiency, Proteinuria, ... ORPHA:375
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Neoplasm, Skin rash, Raynaud phenomenon, Proximal muscle weakness in lower... ORPHA:206569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Tufted Angioma
Petechiae, Facial hemangioma, Neoplasm of the skin, Purpura, Anemia, Thrombocytopenia, Hemangioma... ORPHA:1063
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Diarrhea, Arrhythmia, Hematuria, Myocardial infarction, Proteinuria, Renal insuff... ORPHA:54057
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Carcinoid Syndrome
Atypical pulmonary carcinoid tumor, Episodic abdominal pain, Tricuspid regurgitation, Lack of bow... ORPHA:100093
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Urticaria, Gastritis, Eczema, Vomiting, Pneumonia, Malabsorption, Ecze... ORPHA:37042
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... ORPHA:169802
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Esophageal varix, Pruritus, Gastrointestinal hemorrhage, Jaun... ORPHA:64743
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Essential Thrombocythemia
Splenomegaly, Myocardial infarction, Abnormal platelet morphology, Abnormality of thrombocytes, T... ORPHA:3318
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi... OMIM:300367
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... OMIM:614075
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Cutaneous Small Vessel Vasculitis
Urticaria, Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Vasculitis, Purpura ORPHA:889
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... OMIM:261740
Kaposiform Lymphangiomatosis
Papilloma, Lymphangioma, Bruising susceptibility, Splenomegaly, Abnormal bleeding, Metrorrhagia, ... ORPHA:464329
Congenital Sialidosis Type 2
Petechiae, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Yellow/white lesions ... ORPHA:93400
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Hereditary Spherocytosis
Cholelithiasis, Abdominal distention, Hepatomegaly, Abdominal pain, Spherocytosis, Restrictive ca... ORPHA:822
Cutaneous Collagenous Vasculopathy
Petechiae, Vascular skin abnormality, Diffuse telangiectasia, Bruising susceptibility, Skin rash,... ORPHA:280779
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Nephritis, Retinal neovascularization, Ne... OMIM:180080
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Subcutaneous hemorrhage, Abnormality of neuronal migration, Thrombocytopenia, Abnor... ORPHA:1980
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hepatic failure, Hemothorax, Hepatomeg... ORPHA:99827
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... OMIM:601005
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Al Amyloidosis
Hepatomegaly, Autonomic erectile dysfunction, Proteinuria, Postural hypotension with compensatory... ORPHA:85443
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Q Fever
Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, Pericarditis, Lymphaden... ORPHA:781
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... ORPHA:57777
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Eales Disease
Constipation, Peripheral retinal neovascularization, Retinal thinning, Optic disc pallor, Tractio... ORPHA:40923
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... ORPHA:86812
Cinca Syndrome
Urticaria, Abnormality of thrombocytes, Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Pseudop... ORPHA:1451
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Diarrhea, Vomiting, Hematuria, Proteinuria, Pneumon... ORPHA:340
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... OMIM:615745
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemoglobin F, Macrocytic ... OMIM:612561
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Primary Familial Polycythemia
Abnormal hemoglobin, Abdominal pain, Polycythemia, Abnormal bleeding, Epistaxis ORPHA:90042
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Skin ulcer, Jaundice, Feeding difficul... ORPHA:231226
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Gastrointestinal stroma tumor, Otitis media, Splenomegaly, Autoimmune ... ORPHA:1572
Griscelli Syndrome Type 2
Premature graying of hair, Petechiae, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia,... ORPHA:79477
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, ... ORPHA:343
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Skin rash, Flexion co... OMIM:617591
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Monocytosis, Leukopenia, Lymphoma, Bone marrow hypocellularity, Myelodysplasia, Refractor... OMIM:616871
Primary Sjögren Syndrome
Chronic active hepatitis, Lymphoproliferative disorder, Cutis marmorata, Skin ulcer, Lymphadenopa... ORPHA:289390
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Fabry Disease
Angina pectoris, Abdominal pain, Angiokeratoma, Anemia, Left ventricular hypertrophy, Diarrhea, A... OMIM:301500
Ventricular Tachycardia, Familial
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block OMIM:192605
Constipation, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Epistaxis, Diarrhea, Arrhyth... ORPHA:99745
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... OMIM:615631
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... ORPHA:2442
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Otitis media, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Intermittent thr... OMIM:612541
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Congenital Factor Xi Deficiency
Joint hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Gas... ORPHA:329
Isolated Polycystic Liver Disease
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Hepatomegaly, Polycystic liver dis... ORPHA:2924
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Abdominal cramps, Bloody mucoid diarrhea, Urticaria, Hepatic failure, Urethritis, Abscess, Vomiti... ORPHA:810
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Gaucher Disease, Perinatal Lethal
Petechiae, Hepatomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Neonatal death, Purpu... OMIM:608013
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... ORPHA:2869
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... ORPHA:231214
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Constipation, Pruritus, Skin ulcer, Calcinosis, Gast... ORPHA:93672
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis OMIM:616176
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Antisynthetase Syndrome
Telangiectasia of the skin, Neoplasm, Skin rash, Lack of skin elasticity, Xerostomia, Myositis, M... ORPHA:81
Refractory Celiac Disease
Hypomagnesemia, Inflammatory abnormality of the skin, Hypophosphatemia, Hypocalcemia, Hypoprotein... ORPHA:398063
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Lujo Hemorrhagic Fever
Abdominal cramps, Odynophagia, Maculopapular exanthema, Diarrhea, Vomiting, Myocarditis, Rhinitis... ORPHA:319213
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal bleeding, Palpitations, Abnormal mean cor... ORPHA:86839
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice, Myopathy ORPHA:33574
Neoplasm, Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Aplastic anemia... ORPHA:99867
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Urticaria, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervi... ORPHA:3260
Roch-Leri Mesosomatous Lipomatosis
Purpura, Multiple lipomas, Thrombocytopenia ORPHA:529
Myasthenia Gravis
Raynaud phenomenon, Rheumatoid arthritis, Glycosuria, Myositis, Hemolytic anemia, Hepatitis, Abno... ORPHA:589
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Constipation, Hypersegmentation of neutrophil nuclei, Abnormal... ORPHA:35858
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Meningococcal Meningitis
Petechiae, Skin rash, Projectile vomiting, Anorexia, Papilledema, Hypotension, Shock, Purpura, In... ORPHA:33475
Livedoid Vasculopathy
Telangiectasia of the skin, Leukocytosis, Recurrent skin infections, Polycythemia, Cutis marmorat... ORPHA:542643
Purpura Simplex
Epistaxis, Purpura, Menorrhagia, Bruising susceptibility OMIM:179000
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus... OMIM:613156
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Behçet Disease
Pancreatitis, Myocardial infarction, Increased inflammatory response, Abnormal myocardium morphol... ORPHA:117
Hepatomegaly, Vomiting, Myocarditis, Epididymitis, Knee osteoarthritis, Pneumonia, Transient isch... ORPHA:1304
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Optic atrophy, Proteinuria, Pericarditis, Stage 5 chronic kidney disease, Feeding d... OMIM:619487
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia, Bruising susceptibility OMIM:188000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Schnitzler Syndrome
Urticaria, Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Arthritis, Lymphoma, ... ORPHA:37748
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis, Multip... ORPHA:1414
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Telangiectasia of the skin, Urticaria, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Arrhythmia... ORPHA:98292
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Microscopic Polyangiitis
Pancreatitis, Cutis marmorata, Diarrhea, Hematuria, Uveitis, Increased inflammatory response, Ski... ORPHA:727
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture OMIM:616733
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Macu... ORPHA:891
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Calvarial osteoscl... ORPHA:93324
Complement Component 4A Deficiency
Glomerulonephritis, Cutaneous photosensitivity, Purpura, Vasculitis OMIM:614380
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, Purpura, Proteinuria, Hypertension, Stage 5 chronic kidney disease OMIM:161950
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Anal fissure, S... ORPHA:209964
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hypertrophic cardiomyopathy OMIM:618815
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Eczema, Lymphadenitis, Inflammation of ... OMIM:615895
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Myeloid leukemia, ... ORPHA:48104
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Abdominal pain, Re... ORPHA:486
Autoimmune Hepatitis
Diffuse hepatic steatosis, Gastrointestinal hemorrhage, Jaundice, Increased circulating antibody ... ORPHA:2137
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypo... ORPHA:53
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Muscular Dystrophy, Becker Type
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Sitosterolemia 1
Episodic hemolytic anemia, Abdominal pain, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impa... OMIM:210250
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Aicardi-Goutières Syndrome
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Enchondroma, Raynaud phenomeno... ORPHA:51
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... ORPHA:444013
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Retinal telangiectasia, Esophageal varix, Portal hypertension, Pancytopenia, Gastrointestinal hem... OMIM:617341
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachyca... OMIM:212138
Hepatocellular Carcinoma
Hepatomegaly, Diarrhea, Esophageal varix, Poor appetite, Jaundice, Elevated hepatic transaminase,... ORPHA:88673
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Gastroesophageal reflux, Hepatomegaly, Periportal fibrosis, Necrotizing ... OMIM:201475
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Ebola Hemorrhagic Fever
Increased circulating antibody level, Melena, Lymphopenia, Abdominal pain, Abnormal bleeding, Leu... ORPHA:319218
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Hepatomegaly, Hyposegmentation of neutrophil nuclei, Pancytopeni... ORPHA:75564
Increased urine harderoporphyrin level, Hepatomegaly, Splenomegaly, Increased urinary porphobilin... OMIM:618892
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, 3-Methylglutaric aciduria, Vomiting, Skeletal muscle atrophy, Abnormal heart morpho... ORPHA:26791
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, EMG: myopathic abnormalities, Heart murmur, Ragged-red muscle fiber... OMIM:615418
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Thrombocytopenia 1
Joint hemorrhage, Petechiae, Increased circulating IgA level, Bruising susceptibility, Eczema, Co... OMIM:313900
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Macroglossia, Abnormal tendon morphology, Arrhythmia, Arthrit... ORPHA:85446
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Omenn Syndrome
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal ly... ORPHA:39041
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets ORPHA:89937
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Idiopathic Aplastic Anemia
Neutropenia, Retinal hemorrhage, Gingival bleeding, Ecchymosis, Pancytopenia, Bone marrow hypocel... ORPHA:88
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Flexion contracture, Splenomegaly, Erythema, Myositis, Autoimmune hemolytic anemia,... OMIM:619183
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Gastrointestina... ORPHA:44890
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Myo... OMIM:205400
Hemophilia B
Joint hemorrhage, Gastrointestinal hemorrhage, Abnormal bleeding, Persistent bleeding after trauma OMIM:306900
Burkitt Lymphoma
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... ORPHA:543
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Sézary Syndrome
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Dry skin, Lymphoma, Abnormal immunoglobuli... ORPHA:3162
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hem... OMIM:306800
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Bruising suscepti... ORPHA:729
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Keratitis, Maculopapular exanthema, Pneumonia, Skin ulcer, Osteomyelitis, Peritonitis, Arthritis,... ORPHA:228119
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Feeding difficulties, Vomiting, Macrocytic anemia... ORPHA:2169
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Kasabach-Merritt Syndrome
Capillary hemangioma, Tufted angioma, Petechiae, Abdominal distention, Abdominal pain, Anemia, He... ORPHA:2330
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Pruritus, Splenomegaly OMIM:619658
Stevens-Johnson Syndrome
Pancreatitis, Dyspareunia, Sudden cardiac death, Diarrhea, Myocardial infarction, Abnormal myocar... ORPHA:36426
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Neutr... OMIM:603585
Stormorken-Sjaastad-Langslet Syndrome
Abnormality of thrombocytes, Anemia, Purpura, Asplenia ORPHA:3204
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... OMIM:115197
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
3-Methylglutaconic Aciduria, Type Viii
Feeding difficulties, Poor suck, 3-Methylglutaconic aciduria, Neutropenia, Bradycardia OMIM:617248
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... OMIM:619172
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Acute hepatic failure, Lymphocytosis, Interstitial pneumo... ORPHA:139402
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Telangiectasia of the skin, Hepatic failure, Subarachnoid hemorrhage, Hematuria, ... ORPHA:774
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Muscular dystrophy, Scapular winging, Eosinophilia, Myositis, Lower limb mus... OMIM:253600
Granulomatosis With Polyangiitis
Angina pectoris, Pancreatitis, Otitis media, Hematuria, Increased inflammatory response, Proteinu... ORPHA:900
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Palpitation... ORPHA:263297
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Hypertension, Anemia OMIM:602079
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Osteomalacia, Abnormal bone struc... ORPHA:93160
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Excessive wrinkled skin, Lack of skin elasticity, Su... ORPHA:758
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hypogonadotropic hypogon... ORPHA:848
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Chronic oral candidiasis, Lymphopenia, Decreased circulatin... ORPHA:169160
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... ORPHA:169154
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Chronic mucocutaneous candidia... ORPHA:36913
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... OMIM:179800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:606367
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Sudden cardiac death, Polymorp... OMIM:115000
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Eosinophilic Fasciitis
Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Acr... ORPHA:3165
Noonan Syndrome 8
Atrial septal defect, Feeding difficulties, Pulmonic stenosis, Left ventricular hypertrophy, Ecze... OMIM:615355
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Constipation, Gastroesophagea... ORPHA:732
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... ORPHA:251274
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Spl... OMIM:259700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... OMIM:615474
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Leukocytosis, Left ventricular hypertrophy, Vomiting,... ORPHA:90065
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... OMIM:614077
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Immunoglobulin A Vasculitis
Urticaria, Vascular skin abnormality, Hematuria, Optic atrophy, Proteinuria, Skin ulcer, Gastroin... ORPHA:761
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Anorexia, Pallor, Hepatosplenomegaly, Hemolytic anemia, Distal... OMIM:611590
Hepatomegaly, Steatorrhea, Vomiting, Fat malabsorption, Reticulocytosis, Cardiomegaly, Hypopigmen... ORPHA:14
Neonatal Lupus Erythematosus
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Aplastic anemia, Abnormal electrophysiolo... ORPHA:398124
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Chédiak-Higashi Syndrome
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Jaundice, Lymphadenopat... ORPHA:167
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... ORPHA:3208
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Iron deficiency anemia, Impaired platelet aggregation, Esophageal ulceration, Gas... OMIM:618372
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
African Iron Overload
Abnormal heart morphology, Abnormal pancreas morphology, Viral hepatitis, Hepatomegaly, Micronodu... ORPHA:139507
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Type 2 muscle fiber atrophy, Arrhythmia, Myositis, Lower lim... ORPHA:99845
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Autoinflammation With Infantile Enterocolitis
Urticaria, Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Thrombocytopenia, Feeding d... OMIM:616050
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Ventricular septal defect, Gastrointestinal hemorrhage, Gastrointestinal dysmot... ORPHA:363705
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Diarrhea, Hepatic steatosis, Vomiting, Myoglobinuria, Pigmentary retinopat... ORPHA:71212
Factor Xiii, B Subunit, Deficiency Of
Abnormal umbilical stump bleeding, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding... OMIM:613235
Hermansky-Pudlak Syndrome 2
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Gastroesophageal reflu... OMIM:608233
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormal... ORPHA:2552
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Myocardial fibrosis, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... ORPHA:465
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2