| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Verrucae |
OMIM:613860 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:613496 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:615721 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Pulmonary cyst, Enlarged kidney |
OMIM:618272 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| 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 |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Abnormal in... |
OMIM:619079 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing,... |
ORPHA:79128 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Renotubular dysgen... |
ORPHA:3033 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, F... |
OMIM:300635 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
3-Methylglutaconic aciduria, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
| Immunodeficiency 76 |
|
B-cell lymphoma, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis |
OMIM:619164 |
| Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia |
ORPHA:3032 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... |
OMIM:617638 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias, Respiratory insufficiency |
ORPHA:2487 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Abnormal lung lobation, Pulmonary hypoplasia, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di... |
OMIM:615767 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm |
ORPHA:46488 |
| Immunodeficiency 70 |
|
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia, Verrucae |
OMIM:618969 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased m... |
OMIM:616959 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff... |
OMIM:608022 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis... |
OMIM:618394 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Left... |
OMIM:616733 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... |
OMIM:243150 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Pulmonary ... |
OMIM:619003 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Colitis, Abnormal pulmonary interstitial morphology... |
OMIM:613101 |
| Renal Tubular Dysgenesis |
|
Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Renot... |
OMIM:267430 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, ... |
OMIM:617303 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis |
OMIM:253240 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Cystic renal dysplasia, Enlarged k... |
OMIM:200995 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira... |
ORPHA:436159 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Splenomegaly, Abnormal lung morphology, Dyspnea, Hepatosplenomegaly, Multiple renal cy... |
ORPHA:464329 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Helicobacter pylori infe... |
OMIM:618131 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... |
OMIM:614878 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
| Prune Belly Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Multicystic kidney dysplasia, Hydroureter,... |
ORPHA:2970 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... |
OMIM:208540 |
| Immunodeficiency 40 |
|
Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Chronic diarrhea, Interstitial ... |
OMIM:616433 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Fetal pyelectasis, Pulmonary hypoplasia |
OMIM:616531 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Apnea, Asthma... |
ORPHA:2257 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... |
OMIM:209920 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Increased mean corpuscular volume, Astigmatism, Thrombocytopenia |
ORPHA:261250 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Recur... |
OMIM:616726 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secreto... |
OMIM:616050 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Lymphoproliferative disord... |
OMIM:614700 |
| Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Apnea, Neonatal respira... |
OMIM:608836 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... |
ORPHA:911 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic sinusitis |
OMIM:615294 |
| Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... |
OMIM:143200 |
| Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Glomerul... |
ORPHA:2260 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
| Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye... |
ORPHA:48104 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
| Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... |
ORPHA:449395 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis |
OMIM:614602 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary hypo... |
ORPHA:139466 |
| Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
| Meacham Syndrome |
|
Congenital alveolar dysplasia, Partial anomalous pulmonary venous return, Horseshoe kidney, Cardi... |
OMIM:608978 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Pulmonary hypoplasia, Vesicouretera... |
ORPHA:2470 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Respiratory tract infecti... |
ORPHA:2686 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
| Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Thymoma |
|
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Neoplasm of the lung... |
ORPHA:99867 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Pulmonary hypoplasia, Renal dysplasia |
OMIM:236500 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy |
OMIM:613731 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in... |
ORPHA:505248 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,... |
OMIM:301074 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
| Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
| H Syndrome |
|
Abnormality of the kidney, Recurrent pharyngitis, Bronchiectasis, Hepatosplenomegaly, Chronic rhi... |
ORPHA:168569 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala... |
ORPHA:793 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... |
ORPHA:731 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Lung abscess, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Blo... |
ORPHA:67 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
| Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Abnormality of the uret... |
ORPHA:30 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr... |
OMIM:194080 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... |
OMIM:620321 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... |
OMIM:105650 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, ... |
OMIM:619802 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Enlarged kidney, Pulmonary edema |
OMIM:261740 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic rhinitis, Abno... |
ORPHA:922 |
| Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Asthma, Abnormal lung lobation, Pul... |
ORPHA:79328 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Shigellosis |
|
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, U... |
ORPHA:810 |
| Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Abdominal pai... |
ORPHA:2357 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Arthritis, Inflammation o... |
ORPHA:324964 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... |
ORPHA:98813 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Cleft palate |
OMIM:302905 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232200 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia ... |
ORPHA:290 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Absent testis |
OMIM:613094 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Facial Clefting, Oblique, 1 |
|
Coloboma, Cleft palate |
OMIM:600251 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Bronchitis, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, B-... |
OMIM:619381 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... |
ORPHA:3348 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical ... |
OMIM:231680 |
| Pallister-Hall-Like Syndrome |
|
Micropenis, Pulmonary hypoplasia, Renal dysplasia |
OMIM:241800 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... |
OMIM:232220 |
| Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Hematochezia, Inflammation of the large intestine, Colitis, Pulmonary fibrosis |
OMIM:203300 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary artery stenosis, Bilateral lung... |
OMIM:611812 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Hematologic... |
ORPHA:3243 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Dextrocardia |
|
Abnormal renal morphology, Abnormal lung lobation, Abnormality of the ureter, Abnormal pulmonary ... |
ORPHA:1666 |
| Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney d... |
OMIM:184260 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Neonatal respiratory distress, Hypospadias, Respiratory infections in early ... |
ORPHA:96179 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Neoplasm of the lung, Renal cell carcinom... |
ORPHA:2869 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Inflammation of the large intestine, Esophageal stricture, Pancolitis |
OMIM:620133 |
| Trisomy 13 |
|
Abnormal lung lobation, Abnormality of the ureter, Multiple renal cysts, Displacement of the uret... |
ORPHA:3378 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia |
OMIM:618999 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Abdominal pain, Pustule, Diarrhea, Enthe... |
ORPHA:29207 |
| Penoscrotal Transposition |
|
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... |
ORPHA:60032 |
| Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Tracheomalacia, Partial anomalous pulmonary venous return, Pulmonary hyp... |
OMIM:618280 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Renal agenesis, Cardiomegaly, Horses... |
OMIM:306955 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:263210 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Mucopolysacc... |
OMIM:252500 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:255320 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Pulmonary hypoplasia... |
ORPHA:2437 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Colitis, Decreased liver function, Erythroderma, Infectious e... |
ORPHA:540 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, B-cell lymphoma, Hepatitis, Hodgki... |
ORPHA:3261 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Apnea, Cardiomegaly, Pulmonary a... |
OMIM:300855 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Diarrhea,... |
ORPHA:90038 |
| Tonne-Kalscheuer Syndrome |
|
Micropenis, Hypospadias, Pulmonary hypoplasia |
OMIM:300978 |
| Meckel Syndrome, Type 6 |
|
Bilobed right lung, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Pulmonary hypoplasia |
OMIM:612284 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormality of the kidney, Neonatal asphyxia, Abnormal lung morphology, Dys... |
ORPHA:141127 |
| Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Cardiorespiratory arrest |
ORPHA:93296 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... |
OMIM:619708 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Agenesis of pulmonary vessels, Renal hypoplasia, Horseshoe kidney, Alveolar ca... |
OMIM:601186 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Severe Congenital Nemaline Myopathy |
|
Micropenis, Hypospadias, Pulmonary hypoplasia, Respiratory failure |
ORPHA:171430 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
| Thanatophoric Dysplasia |
|
Pulmonary hypoplasia, Abnormality of the kidney, Respiratory insufficiency |
ORPHA:2655 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Villous atrophy, Oropharyngeal squamous cell carcinoma, Ecz... |
ORPHA:391487 |
| Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... |
ORPHA:95430 |
| Congenital Myopathy 17 |
|
Respiratory tract infection, Renal hypoplasia, Respiratory insufficiency, Pulmonary hypoplasia, U... |
OMIM:618975 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... |
ORPHA:2908 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Thro... |
OMIM:222300 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Epistaxis, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalc... |
ORPHA:79259 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia |
OMIM:617468 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Nausea, Abdominal pain, Respiratory tract infection, Myocarditis, Intestinal perforati... |
ORPHA:544482 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Cholangitis, Malabsorption, Myelodysplasia, Feeding... |
ORPHA:3260 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Cardiomegaly, Pleural effusion, Pulmonary hypoplasia, Micropenis, Hydronephrosis |
OMIM:616897 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Respiratory insufficiency, Abnormality of the ureter, Hypospadias, Anomalous pulmonary venous return |
ORPHA:2311 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia |
OMIM:620306 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma |
OMIM:212550 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Elevated ... |
OMIM:619351 |
| Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:256050 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:614091 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Dysphagia |
ORPHA:254361 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Pulmonary hypoplasia... |
ORPHA:314588 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Anterior chamber f... |
ORPHA:91500 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Enlarged kidney, Enuresis n... |
OMIM:615873 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
| Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Sinusitis, Recurrent intrapulmonary hemorrhage, Eczema, Keratit... |
ORPHA:906 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:253310 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
| Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
| Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
| Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Atelectasis, Hypersensitivity pneumonitis, Atopic derm... |
ORPHA:2902 |
| Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Recurrent respiratory infections, Hypospadias, Pulmonary hypoplasia |
OMIM:618316 |
| Cocaine Intoxication |
|
Glomerulonephritis, Diffuse alveolar hemorrhage, Intestinal perforation, Abdominal pain, Pneumoth... |
ORPHA:90068 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephr... |
OMIM:236700 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
| Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Myeloid leukemia, Hepatic failure |
ORPHA:331 |
| Marden-Walker Syndrome |
|
Micropenis, Pulmonary hypoplasia, Hypospadias, Renal hypoplasia |
OMIM:248700 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... |
OMIM:616468 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Lymphoma, Cleft ... |
ORPHA:2314 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Apnea, Pulmonary hypoplasia, Hydronephrosis |
ORPHA:85201 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, P... |
OMIM:618213 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
| Alagille Syndrome |
|
Hepatomegaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Peripheral... |
ORPHA:52 |
| Joubert Syndrome 21 |
|
Apnea, Splenomegaly, Dyspnea, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Hyperechogen... |
OMIM:615636 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Abnormal pulmonary in... |
OMIM:181000 |
| Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... |
OMIM:615895 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Bronchitis, Feeding ... |
ORPHA:1199 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Pulmonary hypo... |
OMIM:614080 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
| Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Hepatoblastoma, D... |
ORPHA:84064 |
| Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the ureter |
ORPHA:1133 |
| Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... |
ORPHA:707 |
| Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Chronic kidney disease, Renal... |
OMIM:208500 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Neonatal respiratory distress, Hypospadias, Splenomegaly, Abnormal lung lobation, R... |
OMIM:312870 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Abnormal lung lobation, Ureteral agenesis, Bilate... |
OMIM:617667 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Pulmonary hypoplasia |
OMIM:313850 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, HbH hemoglobin, Macular coloboma |
ORPHA:423479 |
| Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:619879 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
| Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:994 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
| Wiskott-Aldrich Syndrome |
|
Lymphoproliferative disorder, Eczema, Hematemesis, Diarrhea, Recurrent pneumonia, Recurrent upper... |
OMIM:301000 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Abnormality of the ureter |
ORPHA:3253 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... |
ORPHA:171 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Pulmonary hypoplasia |
ORPHA:3035 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract |
OMIM:620185 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Pentalogy Of Cantrell |
|
Pulmonary hypoplasia, Renal agenesis, Hypospadias, Renal dysplasia |
ORPHA:1335 |
| Atelosteogenesis Type I |
|
Multiple renal cysts, Pulmonary hypoplasia |
ORPHA:1190 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
| Glycogen Storage Disease Ic |
|
Hepatoblastoma, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Inflamm... |
OMIM:232240 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta... |
OMIM:610978 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Abdominal distention, Chronic diarrhea, Bronchiectasis, Abnormal pulmonary interstit... |
OMIM:620233 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:224410 |
| Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
| Alg3-Cdg |
|
Pulmonary hypoplasia |
ORPHA:79321 |
| Smith-Magenis Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:819 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Pulmonary hypoplasia, Polycyst... |
OMIM:200980 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Atelectasis, Hepatitis, ... |
ORPHA:728 |
| Kagami-Ogata Syndrome |
|
Splenomegaly, Hepatomegaly, Pulmonary hypoplasia, Pulmonary arterial hypertension |
OMIM:608149 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Atelectasi... |
OMIM:306400 |
| Exstrophy-Epispadias Complex |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... |
ORPHA:322 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:616866 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Pulmonary hypoplasia, Pulmonary artery atresia, Micropenis, Pen... |
ORPHA:1692 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Pulmonary hypoplasia, Vesicoureteral reflux, Hydroneph... |
ORPHA:2059 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Feeding difficulties, High palate |
OMIM:300219 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Multiple bladder diverticula, Tracheomala... |
OMIM:613177 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:187600 |
| Renal Agenesis, Bilateral |
|
Renal agenesis, Pulmonary hypoplasia |
ORPHA:1848 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Neonatal respiratory distress, Hypospadias, Albuminuria, Aminoaciduria, Pulmonary h... |
OMIM:214100 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,... |
OMIM:619573 |
| 1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia |
ORPHA:250999 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Cutaneous leiomyoma, High palate, Hepatic failure, Mitochondrial swelling |
OMIM:606812 |
| Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
| Mosaic Trisomy 16 |
|
Abnormal lung morphology, Hypospadias, Pulmonary hypoplasia, Horseshoe kidney |
ORPHA:1708 |
| Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... |
OMIM:612109 |
| Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Renal hypoplasia/aplasia |
ORPHA:958 |
| Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Pulmonary arterial ... |
ORPHA:3309 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis |
OMIM:271520 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Atelectasis, Renal hypoplasia, Respiratory insufficiency, Pulmonary h... |
OMIM:269860 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Respiratory insufficiency, Pulmonary hypoplasia, Renal hypoplasia, Renal cyst |
OMIM:616300 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmon... |
OMIM:608013 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal neoplasm, Ungual fibroma, Re... |
ORPHA:538 |
| Lujo Hemorrhagic Fever |
|
Skin rash, Maculopapular exanthema, Myocarditis, Fulminant hepatitis, Atelectasis, Odynophagia, D... |
ORPHA:319213 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Renal hypoplasia/aplasia, Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cardiomegaly, Nonproductive cough, Dyspnea, Recurren... |
ORPHA:980 |
| Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pulmonary artery hypoplasia, Pulmonary hy... |
ORPHA:991 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Penoscrotal transposition, Hypospadias, Pulmonary hypoplasia |
OMIM:619148 |
| Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Pulmonary hypoplasia, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:151210 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:616546 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficu... |
OMIM:618183 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia |
OMIM:269200 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:1865 |
| Familial Multiple Lipomatosis |
|
Coloboma, Odontogenic keratocysts of the jaw, Medulloblastoma, Functional intestinal obstruction |
ORPHA:199276 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... |
ORPHA:99050 |
| Tarp Syndrome |
|
Apnea, Pulmonary hypoplasia, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
| Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Ulcerative colitis, Cleft pala... |
OMIM:617137 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Hypoplasia of penis, Pulmonary hypoplasia |
ORPHA:2990 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Renal agenesis, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia |
OMIM:273395 |
| Raine Syndrome |
|
Hydroureter, Pulmonary hypoplasia, Hydronephrosis |
OMIM:259775 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
| Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter... |
ORPHA:798 |
| Lethal Congenital Contracture Syndrome 10 |
|
Pulmonary hypoplasia, Cardiomegaly |
OMIM:617022 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Hepatic failure |
OMIM:619431 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia |
OMIM:612530 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Hypospadias, Pulmonary hypoplasia, Vesicoureteral reflux, Micropenis |
OMIM:617063 |
| Achondroplasia |
|
Respiratory distress, Upper airway obstruction, Pulmonary hypoplasia |
OMIM:100800 |
| Vacterl With Hydrocephalus |
|
Renal agenesis, Pulmonary hypoplasia, Renal hypoplasia/aplasia |
ORPHA:3412 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Pulmonary hyp... |
OMIM:249000 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Neoplasm, Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder |
ORPHA:70591 |
| Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Pulmonary hypoplasia, Chylothorax,... |
OMIM:229850 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:263520 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Renal neoplasm, Repeated pneumothoraces, Atelectasis, Respiratory insuffici... |
ORPHA:536467 |
| Farber Disease |
|
Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract infections, Chr... |
ORPHA:333 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Pulmonary hypoplasia, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Bilateral trilobed lung, Ureteral stenosis, Partial anomalous pulmonary ven... |
OMIM:270100 |
| Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon, Diarrhea |
OMIM:609313 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Protruding tongue, Atelectasis, Macroglossia, Gastroesophageal reflux, Dysphagia, Recur... |
ORPHA:258 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, ... |
OMIM:620025 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
| Microcephaly-Micromelia Syndrome |
|
Pulmonary hypoplasia |
OMIM:251230 |
| Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract |
OMIM:615458 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Ab... |
OMIM:615067 |
| Truncus Arteriosus |
|
Pulmonary edema, Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Pul... |
ORPHA:3384 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Hypospadias, Rena... |
OMIM:270400 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Respiratory distress, Pneumothorax, Renal hypoplasia, Respiratory fail... |
ORPHA:3404 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Hypospadias, Pulmonary hypoplasia |
OMIM:265000 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
| Schwartz-Jampel Syndrome |
|
Apnea, Abnormality of the ureter, Nephrolithiasis, Respiratory insufficiency, Abnormality of the ... |
ORPHA:800 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmonary hypoplasia, Pu... |
OMIM:601559 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypoparathyroidism, Acne, Aganglionic megacolon, Intestinal malrotat... |
ORPHA:567 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... |
ORPHA:99413 |
| Turner Syndrome |
|
Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... |
ORPHA:99228 |
| Monosomy X |
|
Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... |
ORPHA:99226 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal localization of kidney, Pulmonary hypoplasia,... |
ORPHA:1596 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
| Atelosteogenesis Type Ii |
|
Tracheobronchomalacia, Pulmonary hypoplasia |
ORPHA:56304 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Respiratory insufficie... |
ORPHA:93271 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Benign neoplasm of the central nervous system, Recurrent respiratory infections, Hyperparathyroid... |
ORPHA:534 |
| Achondrogenesis, Type Ia |
|
Pulmonary hypoplasia |
OMIM:200600 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Pulmonary hypoplasia, Micropenis, Hydronephrosis |
ORPHA:83617 |
| Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micropenis, Pulmonary hypoplasia |
OMIM:617925 |
| Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung lobation, Renal hyp... |
ORPHA:2052 |
| Neu-Laxova Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2671 |
| Neuroocular Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Pulmonary artery sling, Bowel incontinence, Cleft hard palate, Pyloric ste... |
ORPHA:2152 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Respiratory failure requiri... |
ORPHA:99125 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Pulm... |
ORPHA:3310 |
| Greenberg Dysplasia |
|
Hepatomegaly, Abnormal lung lobation, Pulmonary hypoplasia, Hepatosplenomegaly |
OMIM:215140 |
| Fraser Syndrome 1 |
|
Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Pulmonary hypoplasia, Micropenis |
OMIM:219000 |
| Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:616503 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Renal agenesis, Renal hypoplasia/aplasia, Bilateral lung agenes... |
ORPHA:2753 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Restrictive ventilatory defect, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:536471 |
| Fontaine Progeroid Syndrome |
|
Pneumothorax, Respiratory insufficiency, Pulmonary hypoplasia, Left ventricular hypertrophy, Pulm... |
OMIM:612289 |
| Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia |
ORPHA:50945 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Pulmonary hypoplasia |
OMIM:275210 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Bowel incontinence, Respiratory tract infection, Atelectasis, Feeding difficulties in infancy, Ma... |
ORPHA:365 |
| Digeorge Syndrome |
|
Acne, Parathyroid agenesis, Seborrheic dermatitis, Atelectasis, High, narrow palate, Recurrent pn... |
OMIM:188400 |
| Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Pulmonary hypoplasia |
ORPHA:1662 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... |
OMIM:300166 |
| Osteogenesis Imperfecta |
|
Hypercalciuria, Neonatal respiratory distress, Pulmonary hypoplasia, Nephrolithiasis |
ORPHA:666 |
| Chand Syndrome |
|
Atelectasis, Bifid tongue, Cleft palate |
ORPHA:1401 |
| Genitopatellar Syndrome |
|
Micropenis, Pulmonary hypoplasia, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
| Dpagt1-Cdg |
|
Hepatomegaly, Pulmonary hypoplasia |
ORPHA:86309 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Pulmonary artery stenosis, Hepatosplenomegaly, Restrictive ventilatory defect, Resp... |
ORPHA:96334 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Pulmonary hypoplasia, Vesicouretera... |
OMIM:164210 |
| Neu-Laxova Syndrome 1 |
|
Renal agenesis, Pulmonary hypoplasia |
OMIM:256520 |
| Fetal Akinesia Deformation Sequence 1 |
|
Pulmonary hypoplasia |
OMIM:208150 |
| Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Pulmonary hypoplasia |
OMIM:309800 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
| Pallister-Killian Syndrome |
|
Hypospadias, Renal cyst, Apneic episodes in infancy, Pulmonary hypoplasia, Renal dysplasia, Hyper... |
OMIM:601803 |
