| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:205950 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Ficolin 3 Deficiency |
|
Verrucae, Necrotizing enterocolitis, Recurrent lower respiratory tract infections |
OMIM:613860 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:611783 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... |
OMIM:613496 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... |
OMIM:617610 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity |
OMIM:618660 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| 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 red blood cell mass, Splenomegaly, Incr... |
OMIM:133100 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:615721 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... |
OMIM:602088 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:206100 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis |
OMIM:613148 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea |
OMIM:616868 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Rectovaginal fistula, Pancolitis, Recurrent bronchitis, Folliculitis, Enterocol... |
OMIM:612567 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Pulmonary cyst |
OMIM:618272 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Nephropathy, Pulmonary hypoplasia, Multiple renal cysts, Renotubular dysgen... |
ORPHA:3033 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
| 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 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... |
OMIM:619079 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Pulmonary hypoplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... |
OMIM:142623 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:263400 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Enterocolitis, Vomiting, Abdominal pain |
OMIM:260005 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti... |
OMIM:300635 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... |
OMIM:266600 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent pneumonia, B-cell lymphoma, Recurrent bronchiolitis, Colitis |
OMIM:619164 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative ... |
OMIM:617638 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume |
OMIM:617948 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy |
OMIM:121900 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
| Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Overhydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia |
OMIM:185000 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... |
OMIM:263200 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormality of the ureter, Splenomega... |
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 |
|
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Hepatosplenomega... |
OMIM:619902 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Cataract, Optic disc pallor |
OMIM:165300 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... |
OMIM:617021 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,... |
OMIM:616959 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Pulmonary hypoplasia, Cystic renal dysplasia |
OMIM:615415 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine, Renal neoplasm, Bladder neoplasm |
ORPHA:46488 |
| Immunodeficiency 70 |
|
Furuncle, Verrucae, Recurrent sinusitis, Celiac disease, Achalasia, Colitis |
OMIM:618969 |
| Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Recurrent respiratory infections, Mucoid diarrhea, Inflammation of the large int... |
OMIM:615767 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
| Aa Amyloidosis |
|
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Colitis |
OMIM:617006 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... |
OMIM:616860 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... |
OMIM:615234 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Hydronephrosis, Pulmonary hypoplasia, Urethral atresia |
OMIM:314390 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Majeed Syndrome |
|
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... |
OMIM:609628 |
| Immunodeficiency 37 |
|
Infectious encephalitis, Colitis |
OMIM:616098 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly, Bronchiectasis, Respiratory tract infection, Pulmonary fibrosis, M... |
ORPHA:79128 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... |
ORPHA:2838 |
| Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Chronic diarrhea, Recurrent sinopulmonary infections, Pulmonary fibrosis, Bronch... |
OMIM:618394 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... |
OMIM:619774 |
| Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... |
OMIM:617319 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Persistent pupillary membrane, Cataract |
OMIM:620253 |
| Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Hematochezia, Abdominal pain |
OMIM:191390 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia, Fetal pyelectasis |
OMIM:616531 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Gastritis, Diarrhea, Skin rash, Inflammation of the large intestine, Bronchiect... |
OMIM:618108 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Pulmonary hypoplasia, Horseshoe kidney, C... |
OMIM:608022 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, ... |
OMIM:619281 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Skin rash, Ileal ulcer, Anterior uveitis |
OMIM:616744 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Intestinal obstruction, T-cell lymphoma, Rectal atresia, Intestinal atresia, Recur... |
OMIM:243150 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Sterile arthritis, Cystic acne, Acne, Colitis |
OMIM:604416 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Astigmatism, Anemia, Acute myeloid leukemia, Retinal dysplasia, Pancytopenia, In... |
OMIM:617052 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Atelectasis, Otitis media |
OMIM:300455 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Recurrent upper respiratory trac... |
OMIM:613101 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... |
OMIM:616726 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... |
ORPHA:93101 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Arteritis, Abnormal gastrointestinal vascular morphology,... |
ORPHA:70475 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Left vent... |
OMIM:616733 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... |
OMIM:143400 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
| Immunodeficiency 58 |
|
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... |
OMIM:618131 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Microcornea, Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Pulmonary hypoplasia, Cystic r... |
OMIM:200995 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Recurrent lower respiratory tract infections, Diarrhea, Crohn's disease, Optic neuritis, Thyroidi... |
ORPHA:436159 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections, Interstitial pneumonitis, Ulcer... |
OMIM:614878 |
| Prune Belly Syndrome |
|
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... |
ORPHA:2970 |
| Congenital Primary Megaureter |
|
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... |
ORPHA:617 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis |
OMIM:615294 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Immunodeficiency 40 |
|
Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Intermittent diarrhea, Focal ac... |
OMIM:616433 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Lacticaciduria |
OMIM:619003 |
| Pseudomyxoma Peritonei |
|
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Nausea... |
ORPHA:26790 |
| Cataract 9, Multiple Types |
|
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma |
OMIM:604219 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Pulmonary hypoplasia, Ureteral atresi... |
OMIM:208540 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Recurrent bronchopulmonary inf... |
OMIM:617303 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Panacinar emphysema, Hepatocellular carcinoma, Bronchiectasis, Chronic bronchitis |
OMIM:613490 |
| Oligomeganephronia |
|
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... |
ORPHA:2260 |
| Secondary Short Bowel Syndrome |
|
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... |
ORPHA:95427 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re... |
OMIM:613960 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pneumonia, Recurrent otitis media, Villous atrophy, Thyroiditis, Colitis, Arthritis, Chronic diar... |
OMIM:614700 |
| Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria, Pulmonary hypoplasia |
OMIM:267430 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Optic nerve hypoplasia, Astigmatism, Thrombocytopenia |
ORPHA:261250 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Cholangitis, Recurrent lower respiratory tract infections, Chronic mucocutaneous... |
OMIM:209920 |
| Diamond-Blackfan Anemia |
|
Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N... |
ORPHA:124 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
| Autoinflammation With Infantile Enterocolitis |
|
Episodic vomiting, Skin rash, Enterocolitis, Secretory diarrhea, Diffuse alveolar hemorrhage, Fee... |
OMIM:616050 |
| Serkal Syndrome |
|
Hypospadias, Renal agenesis, Pulmonary hypoplasia, Hypoplasia of the bladder, Abnormal penis morp... |
ORPHA:139466 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
| Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Coats Disease |
|
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:190 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Skin rash, Chronic mucocutaneous candidia... |
ORPHA:911 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Pleural effusion, Abnormal lung morphology, Hepatosplenomegaly, Splenomegaly, Mu... |
ORPHA:464329 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
| Wagner Vitreoretinopathy |
|
Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... |
OMIM:143200 |
| Renal Agenesis |
|
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... |
ORPHA:411709 |
| Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Abnormal lung morphology, Renal hypoplasia, Pulmonary hypoplasia, Horsesho... |
ORPHA:2470 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
| Igg4-Related Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Urethritis, Renal interstitial immunoglobulin deposits, Hem... |
ORPHA:449395 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Renal hypoplasia, Ureteral agenesis, Pulmonary hypoplasia, Renal dysplasia |
OMIM:236500 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis |
OMIM:274265 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Pulmonary hypoplasia |
OMIM:614096 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... |
OMIM:127550 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract |
OMIM:614292 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... |
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 |
|
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma |
OMIM:617141 |
| Meacham Syndrome |
|
Enlarged kidney, Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Pulmonary... |
OMIM:608978 |
| Pyoderma Gangrenosum |
|
Myositis, Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Myelodysplasia, Mye... |
ORPHA:48104 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties |
OMIM:616809 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... |
OMIM:225200 |
| Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Chronic hepatitis, Villous atrophy |
OMIM:614602 |
| C1Q Deficiency 2 |
|
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Ar... |
OMIM:620321 |
| Exfoliation Syndrome |
|
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... |
OMIM:177650 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... |
ORPHA:300298 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux |
OMIM:109350 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia |
ORPHA:1068 |
| Familial Nasal Acilia |
|
Atelectasis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent upper res... |
ORPHA:922 |
| Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... |
ORPHA:73263 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
| Retinitis Pigmentosa 9 |
|
Cataract, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:180104 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Pleural effus... |
OMIM:618935 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Corneal opacity, Cataract |
ORPHA:90654 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Esophageal atresia, Eosinophilic microabscess formation in the esophag... |
ORPHA:411696 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Pleural empyema, P... |
ORPHA:67 |
| Thymoma |
|
Neoplasm of the thyroid gland, Prostate neoplasm, Myositis, Leukemia, Neoplasm of head and neck, ... |
ORPHA:99867 |
| Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Bilateral renal agenesis, Pulmonary hypoplasia, Proteinuria |
OMIM:191830 |
| Retinitis Pigmentosa 4 |
|
Cataract, Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy |
OMIM:613731 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Anoperineal fistula, Diarrhea, Chronic gastritis, Skin rash, Arthritis, Abdomin... |
OMIM:301074 |
| Bronchogenic Cyst |
|
Bronchogenic cyst, Abnormal stomach morphology, Atelectasis, Abdominal pain, Abnormal esophagus m... |
ORPHA:2357 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... |
ORPHA:811 |
| Hereditary Orotic Aciduria |
|
Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Recurrent resp... |
ORPHA:30 |
| Cyclic Neutropenia |
|
Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Respiratory tract infe... |
ORPHA:2686 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur... |
OMIM:608836 |
| Gaisböck Syndrome |
|
Increased hematocrit, Increased red blood cell count, Elevated plasma cell count, Increased mean ... |
ORPHA:90041 |
| Primary Pulmonary Hypoplasia |
|
Pneumothorax, Ureteral stenosis, Pulmonary hypoplasia, Recurrent respiratory infections, Abnormal... |
ORPHA:2257 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Psoriasiform dermatitis, Dependency on intravenous nutrition, Thyr... |
ORPHA:37042 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Emphysema, Pulmonary sequestration, Renal cell carcinoma, Parathyroid adenoma, Medu... |
ORPHA:122 |
| Retinitis Pigmentosa 84 |
|
Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:618220 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma |
ORPHA:1473 |
| Tracheobronchopathia Osteochondroplastica |
|
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... |
ORPHA:3348 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... |
ORPHA:231222 |
| H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Recurrent pharyngitis, Hepatosplenomegaly, Bronchiect... |
ORPHA:168569 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:615872 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent otitis media, Diarrhea, Abdominal pain, Eczematoid dermatitis, Enterocolitis, Recurrent... |
OMIM:619802 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia |
ORPHA:848 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Disseminated cutaneous warts, Emphysema, Burkitt lymphoma |
OMIM:618307 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Persistent Hyperplastic Primary Vitreous |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... |
ORPHA:91495 |
| Pallister-Hall-Like Syndrome |
|
Renal dysplasia, Pulmonary hypoplasia, Micropenis |
OMIM:241800 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Hypospadias, Pulmonary artery stenosis, Congenital pulmonary airway malf... |
OMIM:611812 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... |
OMIM:613674 |
| Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Thyroiditis, Fulminant hepa... |
ORPHA:2137 |
| Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... |
ORPHA:731 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Shigellosis |
|
Myocarditis, Anorexia, Acute colitis, Arthritis, Abdominal pain, Intestinal perforation, Bloody d... |
ORPHA:810 |
| Sapho Syndrome |
|
Steatorrhea, Arthritis, Skin rash, Chronic diarrhea, Abdominal pain, Neoplasm of the skeletal sys... |
ORPHA:793 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria |
ORPHA:251004 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Squamous cell carcinoma, Abnormal lung morphology, Recurrent pneumonia, Dysphagia, R... |
ORPHA:60032 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... |
ORPHA:1834 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent otitis media, Chronic diarrhea, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... |
ORPHA:98813 |
| Alg9-Cdg |
|
Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral... |
ORPHA:79328 |
| Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... |
OMIM:604571 |
| Urofacial Syndrome 1 |
|
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... |
OMIM:236730 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Recurrent respiratory infec... |
ORPHA:505248 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pulmonary edema, Enlarged kidney, Pleural effusion |
OMIM:261740 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... |
ORPHA:231226 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Poor appetite... |
ORPHA:324964 |
| Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... |
OMIM:221900 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Polycystic kidney dysplasia, Pulmonary hypoplasia |
OMIM:263210 |
| Congenital Rubella Syndrome |
|
Anemia, Corneal opacity, Abnormality of retinal pigmentation, Thrombocytopenia, Splenomegaly, Cat... |
ORPHA:290 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... |
OMIM:232200 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy |
OMIM:613835 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Cleft palate |
OMIM:302905 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... |
OMIM:612387 |
| Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Denys-Drash Syndrome |
|
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... |
OMIM:194080 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... |
OMIM:106300 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Absent testis |
OMIM:613094 |
| Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Inflammation of the large intestine, Hematochezia, Pulmonary fibrosis, Colitis |
OMIM:203300 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... |
ORPHA:231214 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn... |
OMIM:231680 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Crohn's disease, Skin rash, Bronchitis, B-cell lymphoma, Bowel irritability, Anor... |
OMIM:619381 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
| Idiopathic Bronchiectasis |
|
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... |
ORPHA:60033 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Recurrent respiratory infections, Nephronophthisis, Pulmonary hypopl... |
OMIM:184260 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Cataract 10, Multiple Types |
|
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract |
OMIM:600881 |
| Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Hypospadias, Micropenis |
OMIM:300978 |
| Czeizel-Losonci Syndrome |
|
Congenital megaureter, Ureteral agenesis, Pulmonary hypoplasia, Hydronephrosis, Abnormality of th... |
ORPHA:2437 |
| Dextrocardia |
|
Abnormal lung lobation, Abnormal renal morphology, Abnormality of the ureter, Abnormal pulmonary ... |
ORPHA:1666 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation |
ORPHA:171844 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Renal cyst, Pulmonary hypoplasia, Horseshoe kidney, Bilobed right lung |
OMIM:612284 |
| Facial Clefting, Oblique, 1 |
|
Coloboma, Cleft palate |
OMIM:600251 |
| Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Enlarged polycystic ovaries, Neoplasm of the lung, Abnormality of the urete... |
ORPHA:2869 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... |
OMIM:232220 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
| Sweet Syndrome |
|
Panniculitis, Acute myeloid leukemia, Chronic lymphatic leukemia, Myositis, Breast carcinoma, Pre... |
ORPHA:3243 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis |
OMIM:301220 |
| Whim Syndrome |
|
Severe periodontitis, Atelectasis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Verrucae,... |
ORPHA:51636 |
| Penile Agenesis |
|
Hydroureter, Bilateral lung agenesis, Abnormality of the bladder, Bilateral renal agenesis, Absen... |
ORPHA:49 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... |
OMIM:614723 |
| Trisomy 13 |
|
Abnormal lung lobation, Abnormality of the ureter, Hydronephrosis, Displacement of the urethral m... |
ORPHA:3378 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Membranous nephropathy, Eosinophilic liver infiltration, Atopic dermatitis, Colonic eosinophilia |
OMIM:618999 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Respiratory infections in early life, Hypospadias, Chordee, Pulmonary hypoplasia, Renal dysplasia... |
ORPHA:96179 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia |
OMIM:617468 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia |
OMIM:620133 |
| Primary Ciliary Dyskinesia |
|
Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin... |
ORPHA:244 |
| Reactive Arthritis |
|
Recurrent aphthous stomatitis, Diarrhea, Arthritis, Abdominal pain, Pericarditis, Pustule, Inflam... |
ORPHA:29207 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Recurrent bronchitis, Mucopolysacchariduria, Recurrent pneumonia, ... |
OMIM:252500 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... |
ORPHA:79127 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasi... |
ORPHA:2842 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Pleural effusion, Hydronephrosis, Pulmonary hypoplasia, Cardiomegaly, Micropenis |
OMIM:616897 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Patent urachus, Penoscrotal hypospadias, Scimitar anomaly, Pulmonary hypoplasia,... |
OMIM:618280 |
| Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... |
ORPHA:2334 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis, Decreased pineal volume |
OMIM:301108 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... |
ORPHA:708 |
| Coloboma, Ocular, Autosomal Recessive |
|
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... |
OMIM:276700 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis |
OMIM:613091 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... |
OMIM:130650 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Bilateral lung agenesis, Pelvic kidney, Pulmonary artery atresia, Renal hypopl... |
OMIM:601186 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Pulmonary fibrosis, Atelectasis, Dysphagia, Bronchiolitis |
ORPHA:254361 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Hepatomegaly, Total anomalous pulmonary venous return, Renal agenesis, Cardiomeg... |
OMIM:306955 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B... |
ORPHA:90038 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Pulmonary hypoplasia |
OMIM:614091 |
| Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:253310 |
| Thanatophoric Dysplasia |
|
Abnormality of the kidney, Pulmonary hypoplasia |
ORPHA:2655 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Rectovaginal fistula, Inflammation of the large intestine, Pulmonary hypoplasia, Dysphagia, Bronc... |
OMIM:619708 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Maculopapular exanthema, Skin rash, Erythroderma, Infectious encephalit... |
ORPHA:540 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Pulmonary hypoplasia, Nep... |
ORPHA:314588 |
| Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Abnormality of the gastrointestinal tract, Atelectasis, Pleural eff... |
ORPHA:2902 |
| Norrie Disease |
|
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... |
OMIM:310600 |
| Bronchopulmonary Dysplasia |
|
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis |
ORPHA:70589 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Thyroiditis, Chronic mucocutaneous candidiasis, Abnormal intestine morphology, Orophary... |
ORPHA:391487 |
| Alpha-1-Antitrypsin Deficiency |
|
Panniculitis, Emphysema, Bronchitis, Hepatocellular carcinoma, Bronchiectasis, Hepatitis, Hepatic... |
ORPHA:60 |
| Microphthalmia/Coloboma 12 |
|
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc colobom... |
OMIM:120200 |
| Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia, Hypospadias, Micropenis |
ORPHA:171430 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... |
OMIM:610256 |
| Silver-Russell Syndrome 1 |
|
Hypospadias, Abnormality of the ureter, Urethral valve, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus |
OMIM:612651 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the tongue, Neoplasm of the skin, Hodgkin lymphoma, Fibroadenoma of the breast, Basal... |
ORPHA:3261 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Pustule, Cutaneous abscess, Ulcerative colitis |
ORPHA:555905 |
| Primary Hyperoxaluria Type 2 |
|
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... |
ORPHA:93599 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Kindler Epidermolysis Bullosa |
|
Neoplasm of the urethra, Cheilitis, Squamous cell carcinoma, Periodontitis, Abnormality of the an... |
ORPHA:2908 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
| Congenital Myopathy 17 |
|
Renal hypoplasia, Hydronephrosis, Pulmonary hypoplasia, Respiratory tract infection, Ureteropelvi... |
OMIM:618975 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary hypoplasia, Recurrent respiratory infections, Pulmonary artery atresia, Hypospadias |
OMIM:618316 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... |
OMIM:618278 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Gastrointestinal infarctions, Pancreatitis, Pleuritis, Acute colitis, Abdominal pain... |
ORPHA:544482 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Malignant mesothelio... |
ORPHA:2302 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... |
OMIM:220150 |
| Visceral Myopathy 1 |
|
Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pan... |
OMIM:155310 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Cardiomegaly |
OMIM:620306 |
| Ogden Syndrome |
|
Pulmonary edema, Enlarged kidney, Polycystic kidney dysplasia, Pulmonary artery stenosis, Global ... |
OMIM:300855 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydronephrosis, Pulmonary hypopl... |
OMIM:236700 |
| Idiopathic Hypereosinophilic Syndrome |
|
Abdominal distention, Pancreatitis, Cholangitis, Arthritis, Chronic diarrhea, Abdominal pain, Ple... |
ORPHA:3260 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pyoderma, Emphysema, Chronic diarrhea, Recurrent bronchopulmonary infections, Eczematoid dermatit... |
OMIM:242700 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma |
OMIM:212550 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Cataract, Pigmentary... |
OMIM:222300 |
| Marden-Walker Syndrome |
|
Renal hypoplasia, Pulmonary hypoplasia, Hypospadias, Micropenis |
OMIM:248700 |
| Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia |
OMIM:256050 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Inflammatory abnormality of the eye, Diarrhea, Arthritis, Skin rash, Abdominal pain, P... |
ORPHA:36412 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Chronic otitis media, Atelectasis, Skin rash, Lymphoma, Eczematoid dermatitis, Cleft palate, Recu... |
ORPHA:2314 |
| Cataract 5, Multiple Types |
|
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116800 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema |
ORPHA:1164 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
| Ureterocele |
|
Ureterocele, Duplicated collecting system |
OMIM:191650 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Pulmonary hypop... |
OMIM:614080 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Recurrent respiratory infections, Enlarged... |
OMIM:615873 |
| Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Hematemesis, Acute leukemia, Arthritis, Chronic diarrhea, Hypoplasia of the... |
ORPHA:906 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Bloody diarrhea, Blepharitis, Inflammation of the large intestine, Recurrent pneumonia... |
OMIM:617718 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr... |
ORPHA:79259 |
| Ciliary Dyskinesia, Primary, 1 |
|
Chronic otitis media, Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Chronic rhinit... |
OMIM:244400 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Normochromic anemia, Iris nevus, Anterior chamber flare, P... |
ORPHA:91500 |
| Common Variable Immunodeficiency |
|
Chronic otitis media, Emphysema, Recurrent bronchitis, Lymphoma, Gastrointestinal stroma tumor, B... |
ORPHA:1572 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Episodic vomiting, Gastroesophageal reflux |
OMIM:201475 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Pulmonary hypoplasia, Hypospadias |
OMIM:313850 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Congenital megaureter, Hyperca... |
ORPHA:116 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia |
ORPHA:500095 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Hypospadias, Abnormality of the ureter |
ORPHA:2311 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Adenoma sebaceum, Glucagonoma, Diarrhea, Adrenocortical adenoma, Pancreatic islet c... |
OMIM:131100 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia, Splenomegaly |
ORPHA:3035 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelect... |
OMIM:620233 |
| Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
| Cocaine Intoxication |
|
Pneumothorax, Gastrointestinal infarctions, Pulmonary edema, Abdominal pain, Colitis, Intestinal ... |
ORPHA:90068 |
| Atelosteogenesis Type I |
|
Pulmonary hypoplasia, Multiple renal cysts |
ORPHA:1190 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Pulmonary hypoplasia, Megacystis, Pye... |
OMIM:619351 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Anoperineal fistula, Pancolitis, Bloody diarrhea, Eosinophilic infiltration of ... |
OMIM:618213 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Abnormal salivary... |
OMIM:181000 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2522 |
| Bladder Exstrophy |
|
Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor... |
ORPHA:93930 |
| Hyperlipoproteinemia, Type Id |
|
Colitis, Pancreatitis, Recurrent pancreatitis |
OMIM:615947 |
| Plague |
|
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia... |
ORPHA:707 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, K... |
ORPHA:309031 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Atelectasis, Elevated bronchoalveolar lava... |
OMIM:610978 |
| Pentalogy Of Cantrell |
|
Renal dysplasia, Renal agenesis, Pulmonary hypoplasia, Hypospadias |
ORPHA:1335 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Astigmatism, Persistence of hemoglobin F |
OMIM:619769 |
| Castleman Disease |
|
Thrombocytopenia, Anemia, Decreased mean corpuscular volume |
ORPHA:160 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
| Esophageal Atresia |
|
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Bronchiti... |
ORPHA:1199 |
| Alagille Syndrome |
|
Hepatomegaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Peripheral... |
ORPHA:52 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Myeloid leukemia, Hepatic failure |
ORPHA:331 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Pulmonary hypoplasia, Multicystic kidney dysplasia |
ORPHA:85201 |
| Exudative Vitreoretinopathy 6 |
|
Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme... |
OMIM:616468 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
| Ellis Van Creveld Syndrome |
|
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Emphysema, Hypospadias, Hydroure... |
ORPHA:289 |
| Alg3-Cdg |
|
Pulmonary hypoplasia |
ORPHA:79321 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... |
OMIM:610921 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:165550 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Chronic diarrhea, Abdominal pain, Lymphadenitis, Eczematoid dermatitis, Inflammation of the large... |
OMIM:615895 |
| Immunodeficiency 89 And Autoimmunity |
|
Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla, Crohn's diseas... |
OMIM:619632 |
| Syndromic Diarrhea |
|
Intractable diarrhea, Gastritis, Dependency on intravenous nutrition, Colitis, Bloody diarrhea, H... |
ORPHA:84064 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal cyst, Nephritis, Pulmonary hypoplasia, Proteinuria, Chronic kidney disease, Recurrent respi... |
OMIM:208500 |
| Meckel Syndrome 14 |
|
Pneumothorax, Polycystic kidney dysplasia, Pulmonary hypoplasia |
OMIM:619879 |
| Fraser Syndrome 3 |
|
Abnormal lung lobation, Hypoplasia of penis, Bilateral renal agenesis, Ureteral agenesis, Hypopla... |
OMIM:617667 |
| Aredyld Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormality of the ureter |
ORPHA:1133 |
| Agnathia-Otocephaly Complex |
|
Pulmonary hypoplasia |
OMIM:202650 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Abnormality of the ureter |
ORPHA:3253 |
| Proteus Syndrome |
|
Abnormal lung lobation, Bronchogenic cyst, Enlarged kidney, Pulmonary bulla, Long penis, Neoplasm... |
ORPHA:744 |
| Atresia Of Urethra |
|
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... |
ORPHA:105 |
| Sepsis In Premature Infants |
|
Decreased liver function, Abdominal distention, Functional abnormality of the gastrointestinal tr... |
ORPHA:90051 |
| Primary Sclerosing Cholangitis |
|
Pancreatitis, Neoplasm of the gallbladder, Cholelithiasis, Abnormal large intestine physiology, T... |
ORPHA:171 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Pulmonary artery atresia, Renal cyst, Pulmonary hypoplasia, Penile hypospad... |
ORPHA:1692 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Rectal abscess, Discoid lupus rash, Pleural effusion, Recurrent bacterial skin infec... |
OMIM:306400 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:617895 |
| Hyperferritinemia With Or Without Cataract |
|
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract |
OMIM:600886 |
| Fryns Syndrome |
|
Hypospadias, Vesicoureteral reflux, Hydronephrosis, Pulmonary hypoplasia, Multicystic kidney dysp... |
ORPHA:2059 |
| Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Pulmonary hypoplasia |
ORPHA:2847 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Recurrent otitis media, Melena, Recurrent lower respiratory tract infections, Diarrh... |
OMIM:301000 |
| Renal Agenesis, Bilateral |
|
Renal agenesis, Pulmonary hypoplasia |
ORPHA:1848 |
| Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
| 1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia |
ORPHA:250999 |
| Leprechaunism |
|
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries |
ORPHA:508 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Lipoma, Pituitary growth hor... |
ORPHA:913 |
| Relapsing Polychondritis |
|
Myocarditis, Atelectasis, Recurrent aphthous stomatitis, Anteriorly placed anus, Inflammatory abn... |
ORPHA:728 |
| Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Hypospadias, Total anomalous pulmonary ven... |
OMIM:312870 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia, Developmental cataract, Remnants of the hyaloid vascular system |
OMIM:620185 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, High palate, Bilateral cryptorchidism, Unilateral cryptorchidism, Feeding difficulties |
OMIM:300219 |
| Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the large intestine, ... |
OMIM:232240 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure |
OMIM:210050 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Renal hypoplasia/aplasia, Pulmonary hypoplasia |
ORPHA:958 |
| Congenital Tracheal Stenosis |
|
Abnormal lung lobation, Abnormality of the kidney, Anomalous origin of left pulmonary artery from... |
ORPHA:141127 |
| Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:97214 |
| Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia |
ORPHA:994 |
| Mosaic Trisomy 16 |
|
Abnormal lung morphology, Horseshoe kidney, Pulmonary hypoplasia, Hypospadias |
ORPHA:1708 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Hydronephrosis, Pulmonary hypoplasia, Urethral atresia |
OMIM:271520 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Multiple bladder diverticula, Emphysema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, ... |
OMIM:613177 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Bladder Exstrophy And Epispadias Complex |
|
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney |
OMIM:600057 |
| Kagami-Ogata Syndrome |
|
Hepatomegaly, Pulmonary hypoplasia, Splenomegaly |
OMIM:608149 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Retinal hamartoma, Gastrointestinal hemorrhage, Renal neoplasm, Atelectasis, Emphys... |
ORPHA:538 |
| Netherton Syndrome |
|
Emphysema, Skin rash, Eczematoid dermatitis, Malabsorption, Erythroderma, Recurrent respiratory i... |
ORPHA:634 |
| Scimitar Syndrome |
|
Pneumothorax, Bronchogenic cyst, Pulmonary sequestration, Pulmonary artery hypoplasia, Abnormal l... |
ORPHA:185 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter |
ORPHA:1770 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Sclerosing cholangitis, Abnormal ductus choledochus morphology, Inflammation of the large intesti... |
ORPHA:562639 |
| Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter, Renal agenesis, P... |
OMIM:200980 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia |
OMIM:224410 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Papilledema,... |
ORPHA:263479 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia |
OMIM:616866 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Renal hypoplasia/aplasia, Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
| Pagod Syndrome |
|
Renal hypoplasia/aplasia, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Abnormality of the p... |
ORPHA:991 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
| Smith-Magenis Syndrome |
|
Abnormal localization of kidney, Renal hypoplasia/aplasia, Abnormality of the ureter |
ORPHA:819 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Hypospadias, Renal cortical microcysts, Hydronephrosis, Pulmonary hypoplasia, Album... |
OMIM:214100 |
| Pierson Syndrome |
|
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... |
OMIM:609049 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... |
OMIM:614643 |
| Aniridia 1 |
|
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... |
OMIM:106210 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Squamous cell carcinoma of the skin, Pulmonary fibrosis, Cryptorchidism, Myelodysplasia |
OMIM:620365 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Atelectasis, Diarrhea, Skin rash, Fulminant hepatitis, Vomiting, Nausea, Rhinitis, A... |
ORPHA:319213 |
| Joubert Syndrome 21 |
|
Pulmonary hypoplasia, Splenomegaly, Renal cyst, Hyperechogenic kidneys |
OMIM:615636 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abdominal distention, Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotati... |
ORPHA:2241 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen... |
ORPHA:322 |
| Thanatophoric Dysplasia, Type I |
|
Pulmonary hypoplasia |
OMIM:187600 |
| Immunodeficiency 87 And Autoimmunity |
|
Necrotizing enterocolitis, Pleural effusion, Hepatic failure, Hodgkin lymphoma, Cleft palate, Sec... |
OMIM:619573 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Penoscrotal transposition, Pulmonary hypoplasia, Hypospadias, Left ventricular hypertrophy |
OMIM:619148 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polycystic kidney dysplasia, Pulmonary hypoplasia, Micropenis |
OMIM:616546 |
| Otopalatodigital Syndrome Type 2 |
|
Ureteral obstruction, Hydronephrosis, Pulmonary hypoplasia, Hypospadias |
ORPHA:90652 |
| Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis |
OMIM:618913 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, High palate, Cutaneous leiomyoma, Mitochondrial swelling, Hepatic failure |
OMIM:606812 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Atelectasis, Renal hypoplasia, Pulmonary hypoplasia, Splenomegaly, Cystic renal dys... |
OMIM:269860 |
| Oculoauricular Syndrome |
|
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti... |
OMIM:612109 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Pulmonary hypoplasia, Renal cyst |
OMIM:616300 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:3309 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... |
ORPHA:2973 |
| Trisomy 20P |
|
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... |
ORPHA:261318 |
| Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
| Nocardiosis |
|
Pneumothorax, Scleritis, Anorexia, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymphaden... |
ORPHA:31204 |
| Raine Syndrome |
|
Hydroureter, Hydronephrosis, Pulmonary hypoplasia |
OMIM:259775 |
| Congenital Tracheomalacia |
|
Pneumothorax, Emphysema, Cardiomegaly, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pu... |
ORPHA:95430 |
| Cloacal Exstrophy |
|
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflux... |
ORPHA:93929 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract |
OMIM:116100 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Pulmonary hypoplasia |
OMIM:617022 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Pulmonary hypoplasia, Splenomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:608013 |
| Hypophosphatasia |
|
Emphysema, Feeding difficulties in infancy |
ORPHA:436 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia |
OMIM:612530 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Congenital hydrocele, Arthritis, Parotitis, Abdominal pain, Diarrhea, Atopic dermatitis, Epididym... |
OMIM:620376 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
OMIM:151210 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Coloboma, Pleural effusion, Hematochezia, Feeding difficulties, Secre... |
OMIM:618183 |
| Meconium Ileus |
|
Chronic diarrhea, Meconium ileus, Microcolon |
OMIM:614665 |
| Tetraamelia Syndrome 1 |
|
Renal agenesis, Urethral atresia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia |
OMIM:273395 |
| Vacterl With Hydrocephalus |
|
Renal agenesis, Renal hypoplasia/aplasia, Pulmonary hypoplasia |
ORPHA:3412 |
| Meier-Gorlin Syndrome 7 |
|
Hypospadias, Vesicoureteral reflux, Pulmonary hypoplasia, Urethral stricture, Micropenis |
OMIM:617063 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Pulmonary hypoplasia, Hypoplasia of penis |
ORPHA:2990 |
| Tarp Syndrome |
|
Hydronephrosis, Pulmonary hypoplasia, Horseshoe kidney |
ORPHA:2886 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Pulmonary hypoplasia, Micropenis |
OMIM:263520 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia |
ORPHA:1865 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hydronephrosis, Pulmonary hypoplasia, Unilateral renal agenesis |
OMIM:308050 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis, Abnormality of the ureter |
ORPHA:1225 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Cataract |
OMIM:269200 |
| Familial Multiple Lipomatosis |
|
Medulloblastoma, Coloboma, Functional intestinal obstruction, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
| Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Chylothorax, Renal cyst, Renal agenesis, Hydronephrosis, Pulmo... |
OMIM:229850 |
| Farber Disease |
|
Atelectasis, Arthritis, Chronic diarrhea, Feeding difficulties, Recurrent upper respiratory tract... |
ORPHA:333 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
| Ciliary Dyskinesia, Primary, 20 |
|
Absent outer dynein arms, Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurre... |
OMIM:615067 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Recurrent lower respiratory tract infections, Gastroesophageal reflux, Myositis, Pro... |
ORPHA:258 |
| Toriello-Lacassie-Droste Syndrome |
|
Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Abnormal penis mo... |
ORPHA:3339 |
| Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
| Microcephaly-Micromelia Syndrome |
|
Pulmonary hypoplasia |
OMIM:251230 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Pulmonary artery atresia, Total anomalous pulmonary venous return, Ureteral... |
OMIM:270100 |
| Frontometaphyseal Dysplasia 2 |
|
Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Cryptorchidism... |
OMIM:617137 |
| Loeys-Dietz Syndrome 4 |
|
Pneumothorax, High, narrow palate, Emphysema, High palate, Eosinophilic infiltration of the esoph... |
OMIM:614816 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Emphysema, Pyloric stenosis, Recurrent pneumonia, Small bowel diverticula, Peripher... |
ORPHA:90349 |
| Congenital Myopathy 22B, Severe Fetal |
|
Pulmonary hypoplasia, Hepatomegaly, Pleural effusion |
OMIM:620369 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Anomalous origin of right pulmona... |
ORPHA:99050 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Hepatic failure, Microcolon |
OMIM:619431 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Hepatomegaly, Penoscrotal hypospadias, Hypospadias, Unilateral renal agen... |
OMIM:270400 |
| Distal Deletion 15Q |
|
Hypospadias, Pulmonary hypoplasia, Micropenis, Abnormal localization of kidney, Multicystic kidne... |
ORPHA:1596 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydronephrosi... |
ORPHA:818 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Myeloproliferative disorder, Osteomyelitis, Neoplasm |
ORPHA:70591 |
| Schinzel-Giedion Syndrome |
|
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Recurrent pneumonia, Pulmona... |
ORPHA:798 |
| Chand Syndrome |
|
Hydroureter, Atelectasis |
ORPHA:1401 |
| Meier-Gorlin Syndrome 4 |
|
Breast hypoplasia, Cryptorchidism, Emphysema, Feeding difficulties |
OMIM:613804 |
| Meckel Syndrome, Type 1 |
|
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Pulmonary hypoplasia, Spl... |
OMIM:249000 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pulmonary hypoplasia, Renal neoplasm, Atelectasis, Repeated pneumothoraces |
ORPHA:536467 |
| Achondroplasia |
|
Pulmonary hypoplasia |
OMIM:100800 |
| Absence Of The Pulmonary Artery |
|
Pulmonary edema, Cardiomegaly, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, Recurre... |
ORPHA:980 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Pancreatitis, Atelectasis, High palate, Pulmonary artery atresia, Pulmonary hypopl... |
OMIM:620371 |
| 22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Abnormal lung lobation, Gastrointestinal hemorrhage, Aganglionic megacolon,... |
ORPHA:567 |
| Mednik Syndrome |
|
Diarrhea, Volvulus, Jejunal atresia, Microcolon |
OMIM:609313 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Truncus Arteriosus |
|
Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Pulmonary artery hypoplasia, P... |
ORPHA:3384 |
| Achondrogenesis, Type Ia |
|
Pulmonary hypoplasia |
OMIM:200600 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Pulmonary hypoplasia, Hypospadias |
OMIM:265000 |
| Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Posterior subcapsular cataract, Microcornea |
OMIM:615458 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Pulmonary hypoplasia, Micropenis |
OMIM:617925 |
| Atelosteogenesis Type Ii |
|
Pulmonary hypoplasia |
ORPHA:56304 |
| Neu-Laxova Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2671 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery hypoplasia |
OMIM:620025 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary hypoplasia, Pulmonary arterial medial hypertrophy |
OMIM:601559 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon |
OMIM:619362 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... |
ORPHA:99413 |
| Turner Syndrome |
|
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... |
ORPHA:99228 |
| Monosomy X |
|
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... |
ORPHA:99226 |
| Ulbright-Hodes Syndrome |
|
Pneumothorax, Polycystic kidney dysplasia, Renal hypoplasia, Pulmonary hypoplasia, Abnormal penis... |
ORPHA:3404 |
| Norrie Disease |
|
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... |
ORPHA:649 |
| Orofaciodigital Syndrome Type 4 |
|
Renal hypoplasia/aplasia, Bilateral lung agenesis, Renal agenesis, Pulmonary hypoplasia, Recurren... |
ORPHA:2753 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Narrow palate, Cheilitis, Atelectasis, Gastroesophageal reflux, Periodontit... |
ORPHA:534 |
| Peutz-Jeghers Syndrome |
|
Bladder polyp, Abnormality of the ureter |
OMIM:175200 |
| Greenberg Dysplasia |
|
Abnormal lung lobation, Hepatomegaly, Pulmonary hypoplasia, Hepatosplenomegaly |
OMIM:215140 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hydronephrosis, Pulmonary hypoplasia, Micropenis, Hepatomegaly |
ORPHA:83617 |
| Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Emphysema, Gastroesophageal reflux, Cleft ... |
OMIM:616835 |
| Bardet-Biedl Syndrome |
|
Aganglionic megacolon, Abnormality of the gastrointestinal tract, Hypoplasia of the ovary, High p... |
ORPHA:110 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis, Pulmon... |
ORPHA:93271 |
| Fraser Syndrome 1 |
|
Renal hypoplasia/aplasia, Hypospadias, Renal hypoplasia, Pulmonary hypoplasia, Micropenis |
OMIM:219000 |
| Tetrasomy 9P |
|
Recurrent urinary tract infections, Hydronephrosis, Pulmonary hypoplasia, Multiple renal cysts, R... |
ORPHA:3310 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Decreased liver function, Abnormal pulmonary interstitial morphology, Emphysema, Gastroesophageal... |
OMIM:613658 |
| Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia |
ORPHA:50945 |
| Sarcoidosis |
|
Pneumothorax, Enlarged lacrimal glands, Decreased liver function, Abnormality of the gastrointest... |
ORPHA:797 |
| Full Nf2-Related Schwannomatosis |
|
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system |
ORPHA:637 |
| Schwartz-Jampel Syndrome |
|
Abnormality of the urinary system, Nephrolithiasis, Abnormality of the ureter |
ORPHA:800 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Pulmonary hypoplasia, Hypospadias |
OMIM:275210 |
| Fraser Syndrome |
|
Abnormal lung lobation, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Pulmonary hyp... |
ORPHA:2052 |
| Neuroocular Syndrome |
|
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp... |
OMIM:619539 |
| Restrictive Dermopathy |
|
Ureteral duplication, Pulmonary hypoplasia, Hypospadias |
ORPHA:1662 |
| Mowat-Wilson Syndrome |
|
Recurrent otitis media, Aganglionic megacolon, Cleft hard palate, Iris coloboma, Bowel incontinen... |
ORPHA:2152 |
| Digeorge Syndrome |
|
High, narrow palate, Recurrent otitis media, Atelectasis, Cholelithiasis, Gastroesophageal reflux... |
OMIM:188400 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Bowel incontinence, Respiratory tract infection, Dysphagia, Macroglossia, Feeding di... |
ORPHA:365 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pulmonary hypoplasia |
ORPHA:536471 |
| Fontaine Progeroid Syndrome |
|
Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Left ventricular hypertrophy,... |
OMIM:612289 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Basal cell carcinoma, Emphysema, Squamous cell carcinoma of the skin, Pulmonary carcinoid tumor, ... |
ORPHA:363618 |
| Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia |
OMIM:616503 |
| Autosomal Dominant Cutis Laxa |
|
Emphysema, Bronchiolitis, Vomiting, Small bowel diverticula, Feeding difficulties, Bronchiectasis... |
ORPHA:90348 |
| Dpagt1-Cdg |
|
Hepatomegaly, Pulmonary hypoplasia |
ORPHA:86309 |
| Alkaptonuria |
|
Corneal astigmatism, Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
| Meier-Gorlin Syndrome 1 |
|
Breast hypoplasia, Emphysema, Gastroesophageal reflux, High palate, Cleft palate, Cryptorchidism,... |
OMIM:224690 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Pulmonary hypoplasia, Micropenis |
OMIM:606170 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Periodontitis, Spontaneous pne... |
OMIM:130050 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:123700 |
| Viss Syndrome |
|
Pulmonary artery aneurysm, Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, ... |
OMIM:619472 |
| Osteogenesis Imperfecta |
|
Hypercalciuria, Pulmonary hypoplasia, Nephrolithiasis |
ORPHA:666 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:219100 |
| Fabry Disease |
|
Anorexia, Emphysema, Arthritis, Abdominal pain, Malabsorption, Nausea and vomiting, Achalasia |
ORPHA:324 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmental cataract,... |
OMIM:300166 |
| Keutel Syndrome |
|
Recurrent otitis media, Emphysema, Recurrent bronchitis, Pulmonary artery hypoplasia, Sinusitis, ... |
OMIM:245150 |
| Neu-Laxova Syndrome 1 |
|
Renal agenesis, Pulmonary hypoplasia |
OMIM:256520 |
| Craniofacial Microsomia 1 |
|
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Pulmon... |
OMIM:164210 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary artery stenosis, Hepatomegaly, Pulmonary hypoplasia, Hepatosplenomegaly |
ORPHA:96334 |
| Neonatal Marfan Syndrome |
|
Decreased testicular size, High, narrow palate, Emphysema, Feeding difficulties |
ORPHA:284979 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Hepatomegaly, Cardiac total anomalous p... |
ORPHA:99125 |
| Marfan Syndrome |
|
Narrow palate, Pneumothorax, Emphysema, High palate, Pulmonary artery dilatation, Premature osteo... |
OMIM:154700 |
| Fetal Akinesia Deformation Sequence 1 |
|
Pulmonary hypoplasia |
OMIM:208150 |
| Microphthalmia, Syndromic 1 |
|
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Renal hypoplasia, Pulmonary hypoplasia |
OMIM:309800 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Emphysema, High palate, Intussusception, Pulmonary artery dilatation |
OMIM:614437 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Remnants of the hyaloid vascular system |
OMIM:603671 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Emphysema, Gastroesophageal reflux, Gastroparesis, Chronic diarrhea, Cleft palate, Bifid uvula, S... |
ORPHA:500150 |
| Marfan Syndrome |
|
High, narrow palate, Emphysema, Spontaneous pneumothorax, Arthralgia/arthritis, Cleft palate, Pul... |
ORPHA:558 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
| Pallister-Killian Syndrome |
|
Renal dysplasia, Pulmonary hypoplasia, Hypospadias, Renal cyst |
OMIM:601803 |
