Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Verrucae, Necrotizing enterocolitis |
OMIM:613860 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... |
OMIM:613496 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract |
OMIM:618660 |
Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Renal Hypodysplasia/Aplasia 4 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:615721 |
Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Entero... |
OMIM:612567 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pulmonary cyst, Enlarged kidney, Nephroblastoma |
OMIM:618272 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Pulmonary hypopl... |
ORPHA:3033 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia |
ORPHA:3032 |
Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... |
OMIM:142623 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... |
OMIM:300635 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Recurrent bronchiolitis, B-cell lymphoma, Colitis, Chronic diarrhea |
OMIM:619164 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... |
OMIM:617638 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lung... |
ORPHA:1046 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... |
OMIM:619902 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Peripheral retinal atrophy, Leukopenia, Elliptocytosis, Anisocytosis, Optic disc pallor, Retinal ... |
OMIM:616959 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Pulmonary hypoplasia |
OMIM:615415 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm |
ORPHA:46488 |
Immunodeficiency 70 |
|
Verrucae, Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle |
OMIM:618969 |
Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Inflammation of the large intestine, Recurrent respiratory infections, Crohn's d... |
OMIM:615767 |
Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney, Pulmonary hypoplasia |
OMIM:314390 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Lymphoid Interstitial Pneumonia |
|
Subpleural interstitial thickening, Respiratory tract infection, Multiple pulmonary cysts, Hepato... |
ORPHA:79128 |
Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
Immunodeficiency 60 And Autoimmunity |
|
Ulcerative colitis, Crohn's disease, Recurrent sinopulmonary infections, Pulmonary fibrosis, Coli... |
OMIM:618394 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Conjunctival tela... |
OMIM:619774 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Fetal pyelectasis, Pulmonary hypoplasia |
OMIM:616531 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Recurrent ... |
OMIM:618108 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,... |
OMIM:608022 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis, Colitis, Chronic d... |
OMIM:619281 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Skin rash, Ileal ulcer, Anterior uveitis |
OMIM:616744 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Bloody di... |
OMIM:243150 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne |
OMIM:604416 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, As... |
OMIM:617052 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis, Otitis media, Chronic sinusitis |
OMIM:300455 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology... |
OMIM:613101 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, Renal dysplasia, P... |
OMIM:616733 |
Radiation Proctitis |
|
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... |
OMIM:143400 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Verrucae, Bronchiectasis, Eczematoid dermatitis, Cutaneou... |
OMIM:618131 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Extrapulmonary lobar sequestration, Enlarged kidney, Cystic renal dysplasia, Pulmon... |
OMIM:200995 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume |
OMIM:616943 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... |
ORPHA:436159 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer... |
OMIM:614878 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... |
ORPHA:2970 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... |
OMIM:616433 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Lacticaciduria |
OMIM:619003 |
Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... |
ORPHA:26790 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atre... |
OMIM:208540 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Splenomegaly, Proteinuria, He... |
OMIM:617303 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Gastric varix, Panacinar emphysema, Bronchiectasis, Hepatocellular carcinoma |
OMIM:613490 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... |
ORPHA:86839 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,... |
ORPHA:95427 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Lymphoma... |
OMIM:614700 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia |
OMIM:267430 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Astigmatism, Thrombocytopenia, Optic nerve hypoplasia |
ORPHA:261250 |
Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Protracted diarr... |
OMIM:209920 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
Autoinflammation With Infantile Enterocolitis |
|
Diffuse alveolar hemorrhage, Secretory diarrhea, Villous atrophy, Skin rash, Feeding difficulties... |
OMIM:616050 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary hypo... |
ORPHA:139466 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
Coats Disease |
|
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Lymphoma, Recurrent infection of the... |
ORPHA:911 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Multiple renal cysts, Abnormal lung morpholog... |
ORPHA:464329 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... |
OMIM:143200 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal lung morphology, Pulmonary hy... |
ORPHA:2470 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Ureteral agenesis, Renal cyst, Renal dysplasia, Pulmonary hypoplasia |
OMIM:236500 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Abnormal lung morphology, Urinary bladder inflammati... |
ORPHA:449395 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Pulmonary hypoplasia |
OMIM:614096 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration |
OMIM:614292 |
Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... |
ORPHA:3027 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina |
OMIM:613801 |
Aniridia 2 |
|
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
Meacham Syndrome |
|
Horseshoe kidney, Scimitar anomaly, Congenital alveolar dysplasia, Partial anomalous pulmonary ve... |
OMIM:608978 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia, M... |
ORPHA:48104 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties |
OMIM:616809 |
C1Q Deficiency 2 |
|
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Recur... |
OMIM:620321 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea |
OMIM:614602 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... |
ORPHA:300298 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Abdominal pain, E... |
ORPHA:73263 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Retinitis Pigmentosa 9 |
|
Cataract, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:180104 |
Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Corneal opacity |
ORPHA:90654 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... |
ORPHA:411696 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Pleural effusion, Crohn'... |
OMIM:618935 |
Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Bloody diarrhea, Pleural effusion, Intestinal obstruction, Constri... |
ORPHA:67 |
Thymoma |
|
Rheumatoid arthritis, Ulcerative colitis, Neoplasm of head and neck, Neoplasm of the thyroid glan... |
ORPHA:99867 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia, Pulmonary hypoplasia |
OMIM:191830 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:613731 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... |
OMIM:301074 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... |
ORPHA:2357 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... |
ORPHA:811 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... |
ORPHA:30 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxylic acidu... |
OMIM:608836 |
Cyclic Neutropenia |
|
Periodontitis, Otitis media, Respiratory tract infection, Perianal abscess, Enterocolitis, Perito... |
ORPHA:2686 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |
Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Ureteral stenosis, Pneumothorax, Recurrent respiratory infe... |
ORPHA:2257 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Medullary thyroid carcinoma, Multiple lipomas, Pneumothorax, Renal cell carcinoma, Par... |
ORPHA:122 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
Retinitis Pigmentosa 84 |
|
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy |
OMIM:618220 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Cataract, Posterior embryotoxon, Retinal detachment, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... |
ORPHA:3348 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
H Syndrome |
|
Hepatosplenomegaly, Abnormality of the kidney, Recurrent pharyngitis, Micropenis, Bronchiectasis,... |
ORPHA:168569 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Abdominal pain, Enterocolitis, Recurrent... |
OMIM:619802 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Burkitt lymphoma, Stomatitis, Disseminated cutaneous warts |
OMIM:618307 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Pallister-Hall-Like Syndrome |
|
Micropenis, Renal dysplasia, Pulmonary hypoplasia |
OMIM:241800 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... |
ORPHA:91495 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal agenesis, Bilateral lu... |
OMIM:611812 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Sclerosing cho... |
ORPHA:2137 |
Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Spontaneous pneumothorax, Recurrent pneumonia, Recurrent urinary t... |
ORPHA:731 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Shigellosis |
|
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Bloo... |
ORPHA:810 |
Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... |
ORPHA:793 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Recurrent Respiratory Papillomatosis |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Squamous cell car... |
ORPHA:60032 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... |
ORPHA:1834 |
Mhc Class I Deficiency 1 |
|
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie... |
OMIM:604571 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal lung lobation, Abnormal renal artery morphology, Hydronephros... |
ORPHA:79328 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Hy... |
ORPHA:98813 |
Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... |
OMIM:236730 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav... |
ORPHA:505248 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Cardiomegaly, Pleural effusion, Enlarged kidney |
OMIM:261740 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... |
OMIM:221900 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Pulmonary hypoplasia, Polycystic kidney dysplasia, Abnormal lung lobation |
OMIM:263210 |
Congenital Rubella Syndrome |
|
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Thro... |
ORPHA:290 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Macular coloboma |
OMIM:613835 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Cleft palate |
OMIM:302905 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp... |
OMIM:612387 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
Microphthalmia, Isolated 4 |
|
Absent testis, Coloboma |
OMIM:613094 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... |
OMIM:231680 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Abdominal pain, Colitis, Pulmonary fibrosis |
OMIM:203300 |
Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... |
OMIM:619381 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Nephronophthisis, Polycystic kidney dysplasia, Pulmonary hypopl... |
OMIM:184260 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Congenital megaureter, Pulm... |
ORPHA:2437 |
Tonne-Kalscheuer Syndrome |
|
Micropenis, Hypospadias, Pulmonary hypoplasia |
OMIM:300978 |
Dextrocardia |
|
Abnormal lung lobation, Abnormality of the ureter, Abnormality of the pulmonary artery, Abnormal ... |
ORPHA:1666 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia |
ORPHA:171844 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Horseshoe kidney, Renal cyst, Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Facial Clefting, Oblique, 1 |
|
Coloboma, Cleft palate |
OMIM:600251 |
Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts, Renal cell carcinom... |
ORPHA:2869 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
Sweet Syndrome |
|
Inflammation of the large intestine, Acne inversa, Neoplasm, Predominantly dermal neutrophilic in... |
ORPHA:3243 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis |
OMIM:301220 |
Whim Syndrome |
|
Pneumonia, Recurrent pneumonia, Verrucae, Lymphadenitis, Recurrent upper respiratory tract infect... |
ORPHA:51636 |
Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B... |
ORPHA:49 |
Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
Trisomy 13 |
|
Abnormal lung lobation, Abnormality of the ureter, Displacement of the urethral meatus, Hydroneph... |
ORPHA:3378 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Chordee, Respiratory infections in early life, Hypospadias, Renal dysplasia,... |
ORPHA:96179 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia |
OMIM:618999 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia |
OMIM:617468 |
Primary Ciliary Dyskinesia |
|
Atelectasis, Intestinal malrotation, Recurrent otitis media, Pulmonary situs ambiguus, Respirator... |
ORPHA:244 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis |
OMIM:620133 |
Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Abno... |
ORPHA:29207 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... |
ORPHA:79127 |
Mucolipidosis Ii Alpha/Beta |
|
Recurrent pneumonia, Recurrent bronchitis, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hep... |
OMIM:252500 |
Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... |
ORPHA:2842 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Hydronephrosis, Cardiomegaly, Micropenis, Hypospadias, Pulmonary hypoplasia |
OMIM:616897 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Penoscrotal hypospadias, Partial anomalous pulmonary venous return, Micropenis,... |
OMIM:618280 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis, Decreased pineal volume |
OMIM:301108 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena... |
OMIM:276700 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia |
OMIM:613091 |
Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Agenesis of pulmonary vessels, Horseshoe kidney, Alveolar capillary dysplasia, ... |
OMIM:601186 |
Beckwith-Wiedemann Syndrome |
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Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... |
OMIM:130650 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Bronchiolitis, Dysphagia, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Congenital Myopathy 1B, Autosomal Recessive |
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Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Heterotaxy, Visceral, 1, X-Linked |
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Total anomalous pulmonary venous return, Renal agenesis, Horseshoe kidney, Bilateral trilobed lun... |
OMIM:306955 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Hypospadias, Pulmonary hypoplasia |
OMIM:614091 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Diarrhea, Vomiting, Bloody diarrhea, Rectal prolapse, Peritonitis, Pancreatitis, Abdominal pain, ... |
ORPHA:90038 |
Lethal Congenital Contracture Syndrome 1 |
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Pulmonary hypoplasia |
OMIM:253310 |
Thanatophoric Dysplasia |
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Abnormality of the kidney, Pulmonary hypoplasia |
ORPHA:2655 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Distal Triplication 15Q |
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Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... |
ORPHA:314588 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Inflammation of the large intestine, Interstitial emphysema, Absent uvula, Intestinal atresia, Re... |
OMIM:619708 |
Achondrogenesis Type 2 |
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Pulmonary hypoplasia |
ORPHA:93296 |
Familial Hemophagocytic Lymphohistiocytosis |
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Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapula... |
ORPHA:540 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Atopic dermatitis, Atelectasis, Pleural effusion, Abnormality of the gastrointestinal tract, Hype... |
ORPHA:2902 |
Norrie Disease |
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Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... |
OMIM:310600 |
Bronchopulmonary Dysplasia |
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Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis |
ORPHA:70589 |
Alpha-1-Antitrypsin Deficiency |
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Hepatic failure, Hepatitis, Bronchitis, Emphysema, Panniculitis, Bronchiectasis, Hepatocellular c... |
ORPHA:60 |
Severe Congenital Nemaline Myopathy |
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Micropenis, Hypospadias, Pulmonary hypoplasia |
ORPHA:171430 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Recurrent upper respiratory tract infections, Diarrhea, Inflammatory abnormality of the skin, Ecz... |
ORPHA:391487 |
Anterior Segment Dysgenesis 2 |
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Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Silver-Russell Syndrome 1 |
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Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... |
OMIM:180860 |
Microphthalmia/Coloboma 12 |
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Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system... |
OMIM:120200 |
Endocrine-Cerebroosteodysplasia |
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Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
Hypouricemia, Renal, 1 |
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Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
Primary Hyperoxaluria Type 2 |
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Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
Autoimmune Lymphoproliferative Syndrome |
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Neoplasm of the skin, Hodgkin lymphoma, Glomerulonephritis, Basal cell carcinoma, Thyroid adenoma... |
ORPHA:3261 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Cataract, Microcornea |
OMIM:619082 |
Iga Pemphigus |
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Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Hyperparathyroidism, Transient Neonatal |
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Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
Amoebic Keratitis |
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Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Congenital Myopathy 17 |
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Renal hypoplasia, Ureteropelvic junction obstruction, Respiratory tract infection, Hydronephrosis... |
OMIM:618975 |
Kindler Epidermolysis Bullosa |
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Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Neoplasm of the ureth... |
ORPHA:2908 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Pulmonary artery atresia, Recurrent respiratory infections, Hypospadias, Pulmonary hypoplasia |
OMIM:618316 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Asbestos Intoxication |
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Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... |
ORPHA:2302 |
Infection-Related Hemolytic Uremic Syndrome |
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Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... |
ORPHA:544482 |
Visceral Myopathy 1 |
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Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Glandular hypospadias, Pneumothorax, Cardiomegaly, Pulmonary hypoplasia |
OMIM:620306 |
Lethal Congenital Contracture Syndrome Type 1 |
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Pulmonary hypoplasia |
ORPHA:1486 |
Mckusick-Kaufman Syndrome |
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Hydroureter, Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia, Pulmonary hypopl... |
OMIM:236700 |
Ogden Syndrome |
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Peripheral pulmonary artery stenosis, Pulmonary edema, Pulmonary artery stenosis, Cardiomegaly, G... |
OMIM:300855 |
Beta-Mercaptolactate Cysteine Disulfiduria |
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Abnormality of the ureter |
ORPHA:1035 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Abdominal distention, Eczematoid dermatitis, Vomiting, Pulm... |
ORPHA:3260 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent pneumonia, Eczematoid dermatitis, Pyoderma, Emphysema, Aplasia of the thymus, Recurrent... |
OMIM:242700 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Cataract, Corneal scarring, Retinal detachment, Macular atrophy, Buphthalmos, Iris coloboma |
OMIM:212550 |
Wolfram Syndrome 1 |
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Optic atrophy, Cataract, Pigmentary retinopathy, Sideroblastic anemia, Megaloblastic anemia, Thro... |
OMIM:222300 |
Marden-Walker Syndrome |
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Micropenis, Renal hypoplasia, Hypospadias, Pulmonary hypoplasia |
OMIM:248700 |
Ureter, Bifid Or Double |
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Ureteral duplication |
OMIM:191550 |
Atelosteogenesis, Type Ii |
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Pulmonary hypoplasia |
OMIM:256050 |
Caudal Duplication Anomaly |
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Ureteral duplication |
OMIM:607864 |
Hypocomplementemic Urticarial Vasculitis |
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Diarrhea, Conjunctivitis, Lymphoma, Emphysema, Nausea and vomiting, Episcleritis, Skin rash, Pleu... |
ORPHA:36412 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
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Eczematoid dermatitis, Lymphoma, Atelectasis, Osteomyelitis, Skin rash, Recurrent respiratory inf... |
ORPHA:2314 |
Cataract 5, Multiple Types |
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Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Allergic Bronchopulmonary Aspergillosis |
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Emphysema, Bronchiectasis |
ORPHA:1164 |
Infant Acute Respiratory Distress Syndrome |
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Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
Ureterocele |
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Duplicated collecting system, Ureterocele |
OMIM:191650 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral duplication, Ureteral hypo... |
OMIM:614080 |
Helsmoortel-Van Der Aa Syndrome |
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Enuresis nocturna, Recurrent respiratory infections, Enlarged kidney, Recurrent urinary tract inf... |
OMIM:615873 |
Proximal Myotonic Myopathy |
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Cataract |
ORPHA:606 |
Wiskott-Aldrich Syndrome |
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Hematochezia, Inflammation of the large intestine, Acute leukemia, Blepharitis, Eczematoid dermat... |
ORPHA:906 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... |
ORPHA:79259 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... |
OMIM:617718 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Chronic otitis... |
OMIM:244400 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Cataract, Posterior synechiae of the anterior chamber, Reduced hematocrit, Iri... |
ORPHA:91500 |
Common Variable Immunodeficiency |
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Pneumonia, Bronchiectasis, Lymphoma, Recurrent respiratory infections, Emphysema, Otitis media, R... |
ORPHA:1572 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting |
OMIM:201475 |
Thoracoabdominal Syndrome |
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Hypospadias, Renal agenesis, Pulmonary hypoplasia |
OMIM:313850 |
Beckwith-Wiedemann Syndrome |
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Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... |
ORPHA:116 |
Autosomal Recessive Spondylocostal Dysostosis |
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Abnormality of the ureter, Hypospadias, Anomalous pulmonary venous return |
ORPHA:2311 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney |
ORPHA:500095 |
Congenital Disorder Of Glycosylation, Type Iil |
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Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
Multiple Endocrine Neoplasia, Type I |
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Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cel... |
OMIM:131100 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Splenomegaly, Pulmonary hypoplasia |
ORPHA:3035 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Recur... |
OMIM:620233 |
Isolated Aniridia |
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