Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induc... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... |
OMIM:619267 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... |
OMIM:607685 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Athrombia, Essential |
|
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... |
OMIM:273800 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... |
OMIM:619281 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... |
ORPHA:2585 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... |
ORPHA:75566 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Ventricular septal defect, Att... |
OMIM:618504 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... |
OMIM:614009 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Impaired ADP-induced platel... |
OMIM:155100 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... |
ORPHA:3318 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Chronic noninfectious lymphadenopathy, Follic... |
OMIM:603909 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG... |
OMIM:209950 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic a... |
OMIM:601859 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Bi... |
OMIM:618845 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Acute leukemia, Renal insufficiency, Cryptorchidism, Attention deficit... |
ORPHA:281090 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... |
ORPHA:400 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis |
OMIM:604416 |
Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... |
OMIM:226990 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:604765 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Elevated circulating hepatic transaminase concen... |
OMIM:614576 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... |
OMIM:300835 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... |
OMIM:615888 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Cryptorchidism, Patent fo... |
OMIM:618494 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aggres... |
ORPHA:3306 |
Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... |
OMIM:617443 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... |
OMIM:216360 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia |
OMIM:615524 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Roifman Syndrome |
|
Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa... |
OMIM:616651 |
Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Microphthalmia, Cardiomegaly, H... |
ORPHA:858 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Meckel Syndrome, Type 8 |
|
Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Pericardial effusion, Polycystic kidney dys... |
OMIM:613885 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Hepatic cysts, Eosinophilia, Membranous nephropathy, Nephrotic syndrome, Eosi... |
OMIM:618999 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic left heart |
OMIM:617661 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Elevated circulating C-reactive ... |
OMIM:607115 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, N... |
OMIM:620454 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Secundum atrial septal defect... |
ORPHA:2260 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... |
ORPHA:39041 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... |
ORPHA:79284 |
Trisomy 13 |
|
Abnormality of the ureter, Cryptorchidism, Anophthalmia, Displacement of the urethral meatus, Hyd... |
ORPHA:3378 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Unilateral renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Atrial septal ... |
OMIM:618142 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Hematochezia, Ascites, Leukocytosis, Eosinophilia, Elevated circulating C-reacti... |
ORPHA:2070 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
OMIM:609757 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... |
ORPHA:139402 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Anorexia, Decreased proportion of CD3-p... |
ORPHA:169160 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Abnormal pericardiu... |
ORPHA:183 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly... |
ORPHA:331206 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... |
OMIM:602450 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... |
OMIM:601399 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Abnormal circulating lipid c... |
OMIM:616541 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... |
OMIM:231200 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Unilateral renal agenesis, Ventricular septal defect |
OMIM:601355 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Horse... |
OMIM:601186 |
Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi... |
OMIM:212140 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Anop... |
ORPHA:2470 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerulonephritis, Neu... |
OMIM:304790 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomega... |
OMIM:269920 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder |
OMIM:619504 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Unilateral renal agenesis, Anemia of inadequate production, Bicuspid... |
OMIM:614900 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal pericardium morphology, ... |
ORPHA:284 |
Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Nephroblastoma, Ventricular septal ... |
OMIM:610832 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux |
ORPHA:2512 |
Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hepatomegaly... |
OMIM:252920 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... |
ORPHA:98849 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... |
ORPHA:57777 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Fliedner-Zweier Syndrome |
|
Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular sep... |
OMIM:620511 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormal heart m... |
ORPHA:363444 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis |
OMIM:614034 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Chronic hepatitis, Myocardial eosinophilic infiltration, Neutrophilia, Myelop... |
ORPHA:3260 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Arteritis, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hema... |
ORPHA:449395 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Splenomegaly, Corneal neovascularization, Autoimmune hemolytic anemia, Elevate... |
OMIM:617388 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infec... |
OMIM:609029 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,... |
OMIM:615952 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Impaired platelet aggregation |
OMIM:614072 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis |
OMIM:226300 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu... |
OMIM:615934 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
Von Willebrand Disease |
|
Microcytic anemia, Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia |
ORPHA:903 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy... |
OMIM:243150 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Ventricular s... |
ORPHA:96170 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... |
ORPHA:324636 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Cutaneous abscess, Eosinophilia, Atrial septal defect, Sterile abscess, Pulmonic stenosis |
OMIM:618282 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Secundum atrial septal defect, Leukemia, Supernumerary nipple, Vesicou... |
OMIM:619951 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... |
ORPHA:90324 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Ventricular hypertrophy, Lymphopenia, Pancytopenia, ... |
OMIM:620654 |
Beaulieu-Boycott-Innes Syndrome |
|
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections, Ventricular sept... |
OMIM:613680 |
Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:164180 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Dysphagia |
OMIM:613412 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Renal agenesis |
OMIM:601076 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li... |
OMIM:256550 |
Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... |
OMIM:137920 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... |
OMIM:618886 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, Cryptorchidism |
OMIM:244200 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
Aspergillosis |
|
Hepatitis, Eosinophilia, Neutropenia, Abnormality of the kidney, Intracranial hemorrhage |
ORPHA:1163 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Igg4-Related Pachymeningitis |
|
Mental deterioration, Nephritis, Lymphadenitis, Parotitis, Confusion, Eosinophilia, Pancreatitis,... |
ORPHA:449427 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Anophthalmia |
ORPHA:411986 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Renal insuffi... |
ORPHA:293173 |
Igg4-Related Aortitis |
|
Hydronephrosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypotension, Pituitary adenoma, Hepatitis, Macrocytic anemia, Hyperuricemia, H... |
ORPHA:199299 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Unilateral renal agenesis, Attention deficit hyperactivity di... |
OMIM:619227 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hyperammonemia, ... |
OMIM:600649 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Abnormal cardiac sep... |
OMIM:616737 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis, Aniridia |
OMIM:206750 |
Attrv30M Amyloidosis |
|
Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy... |
ORPHA:85447 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of the spleen, Crosse... |
ORPHA:2538 |
Celiac Disease, Susceptibility To, 1 |
|
Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin... |
OMIM:212750 |
Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Vesicoureteral reflux, Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Hydronephr... |
ORPHA:261344 |
Braddock Syndrome |
|
Unilateral renal agenesis, Pulmonary arterial hypertension |
ORPHA:52047 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Vesicoureteral refl... |
ORPHA:2237 |
Hereditary Folate Malabsorption |
|
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... |
ORPHA:90045 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia, Hypoplasia of penis, Hyp... |
ORPHA:77298 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Cryptorchidism, Ventricul... |
ORPHA:464311 |
Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr... |
OMIM:113650 |
Immunodeficiency 23 |
|
Lymphopenia, Abscess, Eosinophilia, Vasculitis in the skin, Neutropenia, Membranoproliferative gl... |
OMIM:615816 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypert... |
OMIM:201475 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Attention deficit hyper... |
OMIM:614083 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Cerebral vasculitis, Decreased proportion o... |
OMIM:243700 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Horseshoe kidney, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, D... |
ORPHA:508533 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, D... |
OMIM:618213 |
Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis |
OMIM:616362 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f... |
OMIM:115197 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia |
OMIM:620532 |
Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Purple urine, Confusion, Increased urinary porphobili... |
ORPHA:100924 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... |
OMIM:614473 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... |
OMIM:614074 |
Coccidioidomycosis |
|
Vasculitis, Vasospasm, Granuloma, Abnormality of the spleen, Abnormality of the liver, Cerebral i... |
ORPHA:228123 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... |
ORPHA:274 |
Smith-Lemli-Opitz Syndrome |
|
Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Du... |
OMIM:270400 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Arrhythmia, Hepatomegaly, Tubulointersti... |
ORPHA:228308 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis, Cryptorchidism, Testicular atrophy |
OMIM:308750 |
Cockayne Syndrome Type 1 |
|
Elevated circulating hepatic transaminase concentration, Renal insufficiency, Cryptorchidism, Ano... |
ORPHA:90321 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... |
OMIM:255120 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... |
OMIM:603903 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Mental deterioration, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitati... |
OMIM:619051 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... |
OMIM:619313 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:42 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Reduced natural killer cell count, Recurrent urinary tract infections,... |
ORPHA:221139 |
Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Atrial septal defect |
OMIM:617190 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Breast hypoplasia, Crypto... |
ORPHA:464306 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Decreased circulating IgA level, Prolonged prothrombin time, Thr... |
OMIM:212065 |
Poems Syndrome |
|
Splenomegaly, Thrombocytosis, Polycythemia, Increased circulating antibody level |
ORPHA:2905 |
Incontinentia Pigmenti |
|
Supernumerary nipple, Congestive heart failure, Cerebral ischemia, Eosinophilia, Attention defici... |
ORPHA:464 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Leukocyto... |
OMIM:615688 |
7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Hypospadias, Unilateral renal agenesis, Enuresis, Aortic valve stenosis,... |
ORPHA:96121 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Corneal neovascularization, Hematuria, Eosinophilia, Melena |
OMIM:158310 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Leukocytosis, Prolonged prothrombin time, Thrombocytosis, Anemia |
ORPHA:20 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... |
ORPHA:615 |
Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... |
OMIM:300280 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Decreased testicular size, Cryptorchidism, Micropenis, Testicular atrophy |
OMIM:308700 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral rena... |
OMIM:620305 |
Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis |
ORPHA:729 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... |
OMIM:608836 |
Walker-Warburg Syndrome |
|
Abnormal circulating creatine kinase concentration, Cryptorchidism, Anophthalmia, Microphthalmia,... |
ORPHA:899 |
Mayer-Rokitansky-KĂŒster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Atrial septal d... |
ORPHA:3109 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec... |
OMIM:618652 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive... |
OMIM:614096 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Cryptorchidism, Anophthalmia |
ORPHA:90322 |
Thrombocytopenia-Absent Radius Syndrome |
|
Dilatation of the renal pelvis, Horseshoe kidney, Tetralogy of Fallot, Hepatosplenomegaly, Atriov... |
OMIM:274000 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis |
ORPHA:134 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney |
OMIM:618188 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis |
ORPHA:71493 |
Cockayne Syndrome |
|
Mental deterioration, Renal hypoplasia, Unilateral renal agenesis, Elevated circulating hepatic t... |
ORPHA:191 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Pulmonary... |
OMIM:619064 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
Holoprosencephaly |
|
Abnormality of the urinary system, Tetralogy of Fallot, Panhypopituitarism, Abnormality of the sp... |
ORPHA:2162 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Multicystic kidney dysplasia, Hypoplasia of the blad... |
OMIM:614527 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Optic nerv... |
OMIM:610125 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts |
OMIM:617425 |
Lymphatic Filariasis |
|
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Proteinuria, Vaginal... |
ORPHA:2035 |
Wiskott-Aldrich Syndrome |
|
Nephropathy, Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T ce... |
OMIM:301000 |
Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Situs inversus totalis, Cryptor... |
ORPHA:564 |
Sarcoidosis |
|
Abnormal lymph node morphology, Arrhythmia, Hepatomegaly, Tubulointerstitial nephritis, Heart blo... |
ORPHA:797 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis, Aniridia |
ORPHA:1064 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulon... |
ORPHA:99931 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Unilateral renal agenesis, Gastrointestinal hemorrhage, Bilateral re... |
ORPHA:508488 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia |
ORPHA:66625 |
Leopard Syndrome 1 |
|
Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bund... |
OMIM:151100 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Long-Olsen-Distelmaier Syndrome |
|
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failur... |
OMIM:620609 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Abnormality of the kidney |
OMIM:118100 |
Digeorge Syndrome |
|
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Renal ins... |
OMIM:188400 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... |
OMIM:614921 |
Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Tooth abscess, Perianal a... |
ORPHA:2686 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Unilateral renal agenesis, Abnormal renal collecting system morphology, ... |
ORPHA:468631 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic anemia,... |
ORPHA:906 |
Mulibrey Nanism |
|
Congestive heart failure, Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepato... |
OMIM:253250 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Congestive heart failure |
OMIM:300886 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Dilatation of the renal p... |
ORPHA:268261 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Elevated 8(9)-cholestenol, Hydronephrosis, Abnormal cardiac septum mor... |
OMIM:308050 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias |
OMIM:600057 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Increased circulating ferritin concentration, Portal hy... |
ORPHA:465508 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Unilateral renal agenesis |
OMIM:616603 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis, Supernumerary nipple, Decreased response to growth hormone stimulation... |
OMIM:213980 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Incontinentia Pigmenti |
|
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia of the fovea, E... |
OMIM:308300 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype... |
ORPHA:3077 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated circulating cre... |
OMIM:617713 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, At... |
OMIM:620024 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradycardia,... |
OMIM:614702 |
Hydrolethalus |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:2189 |
Glycogen Storage Disease Ii |
|
Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Hepatomegaly, Subarachnoid ... |
OMIM:232300 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Decreased circulating antibody level, Splenomegaly, Increased mean platelet volume |
OMIM:222470 |
Cogan Syndrome |
|
Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Abnormality of the lower urinary tract, Cardiomegaly... |
ORPHA:391428 |
Angiostrongyliasis |
|
Hypereosinophilia, Irritability |
ORPHA:74 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... |
OMIM:147250 |
Sandhoff Disease |
|
Progressive psychomotor deterioration, Increased urinary N-acetylglucosamine-rich oligosaccharide... |
OMIM:268800 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Ebstein anomaly of the tricuspid valve, Renal agenesis |
OMIM:608980 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time |
ORPHA:849 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... |
OMIM:301074 |
Syndromic Diarrhea |
|
Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, In... |
ORPHA:84064 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Total anomalous pulmonary venous return, Abnormal heart morphology, Hy... |
ORPHA:487796 |
Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis |
OMIM:615486 |
Refsum Disease, Classic |
|
Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardi... |
OMIM:266500 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Tricuspid regurgitation, Cryptorchidism, Ventricular septal defect, Tr... |
ORPHA:261337 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Splenomegaly, Anophthalmia, Renal cyst, Dysphagia |
OMIM:615636 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Hepatosplenomegaly, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Th... |
OMIM:619503 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Hyperphosphatemia, Cryptorchidism, Decreased growth hormone responses ... |
OMIM:101800 |
Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Breast aplasia, Pyelonephr... |
OMIM:181270 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia |
OMIM:619170 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
Microphthalmia With Limb Anomalies |
|
Unilateral cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:206920 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Anterior pituitary ... |
OMIM:206900 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Fibular Hemimelia |
|
Abnormal heart morphology, Anophthalmia, Renal dysplasia, Thrombocytopenia |
ORPHA:93323 |
Charge Syndrome |
|
Lymphopenia, Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Ventricular septal defect, ... |
OMIM:214800 |
Microphthalmia With Brain And Digit Anomalies |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:139471 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... |
OMIM:601005 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Abnormality of the uri... |
ORPHA:95699 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eosinophilia |
ORPHA:2314 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Supernumerary nipple, Hypoplasi... |
OMIM:619194 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Pulmonary arterial hypertension |
ORPHA:1164 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Elev... |
OMIM:618419 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Elevated ci... |
ORPHA:308552 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgi... |
ORPHA:2556 |
Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Aniridia, Mitral regurgitation, Cryptorchidism, Anophthalmia, Tricuspid ... |
ORPHA:1101 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Brucellosis |
|
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia, ... |
ORPHA:1304 |
Vacterl With Hydrocephalus |
|
Renal agenesis, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasia, Microphthalmia |
ORPHA:3412 |
Charge Syndrome |
|
Horseshoe kidney, Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Abnormal aortic val... |
ORPHA:138 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... |
OMIM:261740 |
Zttk Syndrome |
|
Aortic regurgitation, Unilateral renal agenesis, Horseshoe kidney, Absent gallbladder, Ventricula... |
OMIM:617140 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H... |
OMIM:174000 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... |
ORPHA:324410 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Pancyt... |
OMIM:227650 |
Pallister-Hall Syndrome |
|
Hypopituitarism, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia,... |
ORPHA:672 |
Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Pancreatitis, Lympha... |
ORPHA:449563 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt... |
OMIM:618278 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi... |
OMIM:616897 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... |
OMIM:602782 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Pancyt... |
OMIM:600901 |
14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia |
ORPHA:264200 |
Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Elevated cir... |
ORPHA:268 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Cushing Disease |
|
Depression, Memory impairment, Increased urinary cortisol level, Lymphopenia, Capillary fragility... |
ORPHA:96253 |
Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Leukemia, Renal agen... |
OMIM:227646 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Proboscis Lateralis |
|
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Anophthalmia, Ventricu... |
ORPHA:141099 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Anemia, T... |
OMIM:608013 |
Immunodeficiency 89 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... |
OMIM:619632 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Depression, Cardiomyopathy, Congestive heart failure, 3-Methylglutaconic aciduria, Increased hepa... |
OMIM:619259 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Attention deficit hyperactivity disorder, Depression, Ventricular septal defect |
OMIM:618798 |
Mucopolysaccharidosis Type 3 |
|
Abnormal temper tantrums, Atrioventricular block, Dementia, Heparan sulfate excretion in urine, R... |
ORPHA:581 |
Amyloidosis, Hereditary Systemic 1 |
|
Urinary incontinence, Cardiomyopathy, Confusion, Cardiomegaly, Orthostatic hypotension due to aut... |
OMIM:105210 |
Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ... |
ORPHA:2968 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, Cryptorchidism |
ORPHA:2673 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Hyperactivity, Optic nerve hypoplasia |
ORPHA:457284 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... |
ORPHA:1677 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Horseshoe kidney, Abnormal heart morphology, Transient ischemic attack... |
ORPHA:500150 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent... |
OMIM:620376 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
Fraser Syndrome 1 |
|
Renal hypoplasia, Bilateral microphthalmos, Abnormal heart morphology, Cryptorchidism, Anophthalm... |
OMIM:219000 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:2250 |
Hermansky-Pudlak Syndrome 6 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:614075 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... |
ORPHA:90348 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Anophtha... |
OMIM:300166 |
Acrofacial Dysostosis 1, Nager Type |
|
Tetralogy of Fallot, Unilateral renal agenesis, Ventricular septal defect |
OMIM:154400 |
Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Duplicated collecting system, Renal agenesis, Horseshoe kidney, Panc... |
OMIM:227645 |
Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... |
OMIM:130650 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Anophthalmia, Microphthalmia |
OMIM:615877 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:14 |
Fucosidosis |
|
Mental deterioration, Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptidur... |
OMIM:230000 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Atrial septal defect, Anophthalmia, Microphthalmia |
ORPHA:2526 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypophosphatemic rickets... |
OMIM:208000 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... |
ORPHA:363705 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Oligosacchariduria, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened... |
ORPHA:365 |
Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
Kawasaki Disease |
|
Leukocytosis, Thrombocytosis |
ORPHA:2331 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased circulating antibody level, Impaired lymphocyte transf... |
ORPHA:79329 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Glan... |
OMIM:620306 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Noonan Syndrome |
|
Abnormality of the spleen, Abnormal platelet function, Juvenile myelomonocytic leukemia |
ORPHA:648 |
Ogden Syndrome |
|
Torsade de pointes, Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aorti... |
OMIM:300855 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Abnormality of end... |
ORPHA:93111 |
Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto... |
ORPHA:79330 |
Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Pulmonary arterial hypertension, Hypertension |
OMIM:613320 |
Focal Dermal Hypoplasia |
|
Supernumerary nipple, Horseshoe kidney, Bifid ureter, Aniridia, Cryptorchidism, Anophthalmia, Hyd... |
OMIM:305600 |
Holoprosencephaly 9 |
|
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... |
OMIM:610829 |
Viss Syndrome |
|
Coronary sinus enlargement, Hypereosinophilia, Right ventricular hypertrophy, Mitral valve prolap... |
OMIM:619472 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Congestive heart failure, Hypertrophic... |
OMIM:252500 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Depression, Memory impairment, Abnormal lymph node morphology, Increased urinary cortisol level, ... |
ORPHA:99889 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries |
ORPHA:2969 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... |
ORPHA:116 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis, Hypokalem... |
OMIM:219090 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Cryptorchidism, Corneal ... |
OMIM:308205 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Emotional lability, Cryptorchidism, Ventricular septal defect, Bicuspid ao... |
ORPHA:353281 |
Williams Syndrome |
|
Cryptorchidism, Overfriendliness, Polycystic ovaries, Ventricular septal defect, Bicuspid aortic ... |
ORPHA:904 |
Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
Familial Aortic Dissection |
|
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function |
ORPHA:229 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased hepatic echogenicity, Cutaneous abscess, Eosinophilia, Dysphagia, Recurrent cutaneous a... |
OMIM:147060 |
Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
Fraser Syndrome |
|
Abnormality of the urinary system, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasia, Urethr... |
ORPHA:2052 |
Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... |
ORPHA:1478 |
Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right... |
ORPHA:3427 |
Microphthalmia With Limb Anomalies |
|
Horseshoe kidney, True anophthalmia, Cryptorchidism, Microphthalmia |
ORPHA:1106 |
Absence Of The Pulmonary Artery |
|
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... |
ORPHA:980 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inappropriate laughter, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
Truncus Arteriosus |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... |
ORPHA:3384 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Supernumerary nipple, Cryptorchidism, Anophthalmia, Renal cyst, Microphthalmia, D... |
OMIM:113620 |
Microphthalmia, Syndromic 1 |
|
Renal hypoplasia, Hydroureter, Cryptorchidism, Self-mutilation, Renal hypoplasia/aplasia, Anophth... |
OMIM:309800 |
Aicardi-GoutiĂšres Syndrome |
|
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy... |
ORPHA:51 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormally large globe, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aorti... |
OMIM:245600 |
Microphthalmia, Syndromic 6 |
|
Renal hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Anterior hypopituitarism |
OMIM:607932 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Acute myelomonocytic leukemia, Secundum atrial septal defect, D-2-hydr... |
ORPHA:99646 |
Dermatomyositis |
|
Vasculitis, Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentrati... |
ORPHA:221 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy |
ORPHA:158687 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Hypophosphatemic rickets, Cortical nephrocalcinosis, A... |
ORPHA:51608 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... |
OMIM:300967 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Cryptorchidism, Patent fora... |
OMIM:620371 |
CantĂș Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Emotional lability, Cryptorchidism, Ventricular septal defect, Bicuspid ao... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Emotional lability, Cryptorchidism, Ventricular septal defect, Bicuspid ao... |
ORPHA:353277 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Urinary retention, Nephroblastoma, Cardiomegaly, Abnormal cardi... |
ORPHA:97297 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Parotitis, Microcytic anemia, Congestive... |
OMIM:256040 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Tetralogy of Fallot, Vesicoureteral reflux, Uretero... |
OMIM:164210 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... |
ORPHA:91387 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Yunis-Varon Syndrome |
|
Cardiomyopathy, Bilateral microphthalmos, Tetralogy of Fallot, Renal artery stenosis, Cryptorchid... |
ORPHA:3472 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Mucosal telangiectasiae |
ORPHA:2463 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... |
ORPHA:95430 |
Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Pulmonary embolism, Splenomegaly, Enlarged polycystic ovaries, Re... |
ORPHA:744 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Ventricular septal defect |
ORPHA:96191 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia |
ORPHA:79280 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral... |
OMIM:182250 |