Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Myocardial infarction, ... |
ORPHA:54057 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Hepatosplenomegaly, Reticulocytosis, Aminoaciduria, Hemolytic anemia |
ORPHA:33574 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Ret... |
OMIM:613673 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Exercise-induced myoglobinuria, Rhabdomyolysis, Reticulocytosis, Hemolytic anemia, Rena... |
OMIM:300653 |
Glycogen Storage Disease Vii |
|
Gout, Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia, Reticulocytosis, ... |
OMIM:232800 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Thrombocytopenia, Short neck,... |
ORPHA:3319 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... |
OMIM:612926 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Nephrocalcinosis, Isothenuria, Hepatosplenomegaly, Reticulocytosis, Decreased mean c... |
OMIM:611590 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Myoglobinuria, Hyperbilirubinemia, Decreased hemoglobin concentration, Rhabdomyolysis, ... |
ORPHA:713 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... |
OMIM:237800 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocy... |
OMIM:615631 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulatin... |
OMIM:274150 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Harderoporphyria |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Splenomegaly, Increased urinary porphobilinogen, I... |
OMIM:618892 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, M... |
OMIM:224120 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Pectus carinatum, Abnormality of the philtrum, Finger syndactyly, Abnor... |
ORPHA:3268 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated... |
OMIM:235400 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Hematuria, Prolonged QTc interv... |
ORPHA:231111 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... |
OMIM:161900 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Micrognathia, Abnormality of the ureter, Pectus excavatum, Abnormal clavicle morphol... |
ORPHA:2522 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Splenomegaly, Hypertrophic cardiomyopathy, Nephrotic syndrome, Pectus carinatum, Pro... |
OMIM:617303 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Igg4-Related Retroperitoneal Fibrosis |
|
Ureteropelvic junction obstruction, Elevated circulating C-reactive protein concentration, Hypert... |
ORPHA:49041 |
Thyrocerebrorenal Syndrome |
|
Abnormality of the musculature of the limbs, Thrombocytopenia, Nephritis, Renal insufficiency |
ORPHA:3327 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Osteopetrosis, Autosomal Recessive 4 |
|
Thrombocytopenia, Anemia, Facial palsy, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Sclero... |
OMIM:611490 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Hypertension, Episodic hemolytic anemia, Craniosynostosis, ... |
ORPHA:251004 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Cleft palate, Pierre-Robin sequence, Hip contracture, Short thorax, Short long bon... |
OMIM:618363 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Thrombocytosis, Hypertension, Asplenia, Coombs-positive hemolytic anemia, Hemat... |
OMIM:614034 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Rectal prolapse, Unconjugated hyperbilirubinemia, Intussusception, Colonic stenosis, Hyponatremia... |
ORPHA:90038 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Widely spaced teeth, High palate, Microdontia, Wide mouth, Cone-shaped epiphysis, Macroglossia, N... |
OMIM:266920 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... |
OMIM:152700 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehy... |
OMIM:300908 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:613944 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Spontaneous, recurrent ep... |
ORPHA:182050 |
Nail-Patella Syndrome |
|
Abnormality of the knee, Cubitus valgus, Contracture of the distal interphalangeal joint of the f... |
ORPHA:2614 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Neutropenia, Myocardial necrosis, Steatorrhea, Pancy... |
OMIM:260400 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Pulmonary embolism, Pancytopenia, Chronic kidney disease, Hemosi... |
ORPHA:447 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... |
OMIM:153640 |
Hypophosphatasia, Infantile |
|
Hypercalcemia, Elevated urine pyrophosphate, Short lower limbs, Intracranial hemorrhage, Nephroca... |
OMIM:241500 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... |
OMIM:616689 |
Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis |
OMIM:612126 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Cockayne Syndrome Type 1 |
|
Contractures involving the joints of the feet, Widely spaced primary teeth, Hypertension, Hypopla... |
ORPHA:90321 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... |
ORPHA:1802 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Butterfly vertebrae, Cleft palate, Smooth philtrum, Pierre-Robin seq... |
OMIM:611209 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Femoral-Facial Syndrome |
|
Cleft palate, Abnormal localization of kidney, Thin upper lip vermilion, Abnormality of pelvic gi... |
ORPHA:1988 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Microangiopathic hemolytic anemia, Leukopenia, Abnormality of the urinary sys... |
ORPHA:93552 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Splenomegaly, Anemia of inadequate production |
OMIM:224100 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Anemia, Hyperbilirubinemia, Gout, Splenomegaly, Extramedullary hemato... |
ORPHA:822 |
Jeune Syndrome |
|
Toe syndactyly, Cone-shaped epiphysis, Nephronophthisis, Abnormal sternum morphology, Abnormal cl... |
ORPHA:474 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... |
OMIM:210250 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Myopathy, Generalized limb muscle atrophy, Long philtrum, Anemia, Kyph... |
ORPHA:2598 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Splenomegaly, Increased ... |
OMIM:194380 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney ... |
OMIM:603278 |
Schimke Immunoosseous Dysplasia |
|
Neutropenia, Cerebral ischemia, Shallow acetabular fossae, Transient ischemic attack, Lateral dis... |
OMIM:242900 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Trimethylaminuria |
|
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria |
OMIM:602079 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Mandibular prognathia, Abnormal form of the vert... |
ORPHA:2790 |
Nephronophthisis |
|
Anemia, Renal insufficiency |
ORPHA:655 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... |
OMIM:615008 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Micrognathia, High palate, Pectus carinatum, Microcytic anemia, Retrognathia, Short ... |
ORPHA:98791 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti... |
OMIM:235700 |
Mosaic Trisomy 14 |
|
Hypospadias, Micrognathia, Cleft palate, High palate, Wide mouth, Ectopic anus, Narrow chest, Abn... |
ORPHA:1703 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:161950 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Nephritis, Skeletal muscle atrophy |
OMIM:274240 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency |
OMIM:162000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Rhinitis, Orthostatic hypotension, Elevated circulating creatinine concentration, Orthos... |
ORPHA:230 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Malaria |
|
Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circulating C-reactiv... |
ORPHA:673 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulcerative colitis |
OMIM:619398 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hyperammonemia, Uveitis, Maculopapular exanthema, Capillar... |
ORPHA:99826 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Micrognathia, Abnormality of the ureter, Thin vermilion border, Anemia, Splenomegaly... |
ORPHA:1046 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Spl... |
ORPHA:288 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Reduced haptoglobin level, Macrocytic anemia, Hypochromia, Stomatocytosis, Hype... |
ORPHA:71275 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebra... |
ORPHA:2635 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Cleft palate, Ectopic anus, Abnormal sacrum morphology, Abno... |
ORPHA:2345 |
Diamond-Blackfan Anemia 1 |
|
Cleft palate, Neutropenia, Triphalangeal thumb, Tricuspid stenosis, Hypoplasia of the radius, 11 ... |
OMIM:105650 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Abnormal renal physiology, Elevated circulating creatinine... |
OMIM:223900 |
Juberg-Hayward Syndrome |
|
Hypospadias, Horseshoe kidney, Toe syndactyly, Radioulnar synostosis, Abnormality of the elbow, A... |
ORPHA:2319 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis |
OMIM:616649 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal intestine morphology, Abnormality of the knee, Abnormal form of the vertebral bodies, Ab... |
ORPHA:1834 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Short ribs, Foot polydactyly, Conjugated hyperbilirubinemia, Hand polyd... |
OMIM:208500 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:612653 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Hyperlipid... |
ORPHA:1830 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... |
OMIM:109270 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Neutropenia, Renal cyst, Anemia, Gout, Hyperuricemia, Nephrop... |
OMIM:617056 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... |
ORPHA:90044 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micrognathia, Short philtrum, Anemia, Micropenis, Downturned corners of mouth, Neph... |
ORPHA:52022 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Reduced alpha/beta synthesis ratio, High palate, Hypochromic microcytic anemia, Long... |
OMIM:141750 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Abnormality of the mouth... |
OMIM:607665 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:182900 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticuloc... |
OMIM:266200 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Congenital Erythropoietic Porphyria |
|
Unconjugated hyperbilirubinemia, Purple urine, Red-brown urine, Porphyrinuria, Splenomegaly, Incr... |
ORPHA:79277 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Anemia, Arthritis, Vasculitis, Glomerulopathy, Persistence of primary teeth, Proteinur... |
ORPHA:375 |
Prune Belly Syndrome |
|
Pectus excavatum, Abnormality of the ureter, Congenital posterior urethral valve, Hydroureter, Ap... |
ORPHA:2970 |
Lesch-Nyhan Syndrome |
|
Hematuria, Anemia, Gout, Hyperuricemia, Renal insufficiency |
ORPHA:510 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Myopathy, Decreased HDL cholesterol concentration, Hypocholesterolemi... |
ORPHA:14 |
Spherocytosis, Type 5 |
|
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612690 |
Hypophosphatasia |
|
Hypercalcemia, Bowing of the long bones, Craniosynostosis, Anemia, Abnormality of the metaphysis,... |
ORPHA:436 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Nephrotic syndrome, Anemia, Hyperlordosis, Nephropathy, Proteinuria |
ORPHA:1192 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Kyphomelic Dysplasia |
|
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Abnormal for... |
ORPHA:1801 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Abnormal intervertebral disk morphology, Abnormality of the ureter, Cleft palate, Lo... |
ORPHA:2311 |
Pearson Syndrome |
|
Neutropenia, Lacticaciduria, Cardiac conduction abnormality, Hypophosphatemia, Splenomegaly, Stea... |
ORPHA:699 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Chronic active hepatitis, Hypertension, Decreased HDL cholesterol concent... |
OMIM:203800 |
Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Cleft palate, Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina... |
ORPHA:1797 |
Melnick-Needles Syndrome |
|
Hydronephrosis, Micrognathia, Short clavicles, Abnormality of the pubic bone, Bowing of the long ... |
ORPHA:2484 |
Diastrophic Dysplasia |
|
Micrognathia, Cleft palate, Short finger, Abnormality of epiphysis morphology, Ulnar deviation of... |
ORPHA:628 |
Cartilage-Hair Hypoplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Metaphyseal dysplasia, Neutropenia, Abnorma... |
ORPHA:175 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... |
OMIM:619113 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Genu varum, Phocomelia, Finger syndactyly, Tibial torsion, Micrognathia, Aplasia/Hy... |
ORPHA:3320 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Abnormal dental enamel morphology, Short thorax, Mucopolysacchariduria, Pectus car... |
ORPHA:582 |
Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Epiphyseal deformities of tubular bones, Chondroitin sulfate excretion in urine, K... |
OMIM:253000 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... |
ORPHA:3344 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Hypertension, Pericarditis, Nephrotic syndrome, Nephritis, Arthritis,... |
ORPHA:91139 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Frontometaphyseal Dysplasia 1 |
|
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... |
OMIM:305620 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Hypospadias, Chronic otitis media, Abnormality of the philtrum, Abnormal clavicle morphology, Abn... |
ORPHA:276422 |
Fibrochondrogenesis 1 |
|
Broad ischia, Cleft palate, Short ribs, Joint contracture of the hand, Camptodactyly, Short long ... |
OMIM:228520 |
Severe Hemophilia A |
|
Macroscopic hematuria, Limb joint contracture, Intracranial hemorrhage, Epidural hemorrhage, Syno... |
ORPHA:169802 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Aplasia/Hypoplasia of the phalanges of the hallux, Abnormal vertebral morphology, ... |
ORPHA:337 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short philtrum, Abnormality of epiphysis morphology, Bowing of the long bones, Abno... |
ORPHA:93267 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... |
ORPHA:85450 |
Poland Syndrome |
|
Unilateral hypoplasia of pectoralis major muscle, Unilateral absence of pectoralis major muscle, ... |
OMIM:173800 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Cleft palate, Triphalangeal thumb, Increased mean corpuscular vo... |
OMIM:612561 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal hypoplasia, Hypertrophy of the urinary bladder, Renal dysplasia, Anal atresia, Sprengel ano... |
OMIM:601389 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease |
OMIM:266900 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Type 2 muscle fiber atrophy, Leukopenia, Chronic kidney disease, Pulmonary arterial... |
OMIM:613845 |
Mucopolysaccharidosis, Type Ivb |
|
Carious teeth, Epiphyseal deformities of tubular bones, Aortic valve stenosis, Kyphosis, Flaring ... |
OMIM:253010 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Renal dysplasia, Abnormal rib morphology, Ectopic kidney, Short neck, Vertebral s... |
ORPHA:2578 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Retinal Venous Beading |
|
Retinal neovascularization, Nephritis, Neutropenia, Vitreous hemorrhage |
OMIM:180080 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal palate morphology, Micrognathia, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, To... |
ORPHA:3082 |
Blackfan-Diamond Anemia |
|
Hypospadias, Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Cleft l... |
ORPHA:124 |
3M Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Short thorax, Delayed eruption of teeth, Hypoplas... |
ORPHA:2616 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... |
ORPHA:168549 |
Albers-Schönberg Osteopetrosis |
|
Carious teeth, Abnormality of epiphysis morphology, Anemia, Abnormality of the metaphysis, Arthri... |
ORPHA:53 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Inflammatory myopathy, Interphalangeal joint contracture of finger, Ankle flexion contracture, Hi... |
ORPHA:1145 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality ... |
ORPHA:1842 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypospadias, Thick lower lip vermilion, Hydronephrosis, Reduced alpha/beta synthesis ratio, Renal... |
OMIM:301040 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short iliac bones, Metaphyseal widening, ... |
OMIM:614376 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Muckle-Wells Syndrome |
|
Abnormal palate morphology, Episcleritis, Nephrotic syndrome, Anemia, Arthritis, Splenomegaly, Uv... |
ORPHA:575 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal form of the vertebral bodies, Splenomegaly, Hepatosplenomegaly, Abn... |
ORPHA:464329 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Azo... |
OMIM:104200 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Anemia, Punctate keratitis, Keratitis, Muscular dystrophy, Enamel hypoplasia, Uret... |
OMIM:226670 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephritis, Stage 5 ch... |
OMIM:301050 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease |
OMIM:606996 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Short long bone,... |
ORPHA:93315 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... |
OMIM:133100 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal vertebral morphology, Abno... |
ORPHA:324964 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... |
ORPHA:239 |
Poland Syndrome |
|
Hypospadias, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morpholog... |
ORPHA:2911 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglo... |
ORPHA:848 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Cholecystitis, Nephrocalcinosi... |
ORPHA:90041 |
Cleidocranial Dysplasia |
|
Carious teeth, Sinusitis, Cleft palate, Chronic otitis media, Abnormal dental enamel morphology, ... |
ORPHA:1452 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis, Narrow chest, Abn... |
ORPHA:1354 |
Cenani-Lenz Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Hypoplasia of the radiu... |
ORPHA:3258 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Reduced sperm motility, Decreased glomerular filtration rate, Hematuria, Pyelonephr... |
ORPHA:730 |
Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Anemia, Back p... |
ORPHA:210110 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Anal atresia, Renal hypoplasia/aplasia, Hip dysp... |
ORPHA:195 |
Posterior Urethral Valve |
|
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... |
ORPHA:93110 |
Schneckenbecken Dysplasia |
|
Cleft palate, Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irre... |
OMIM:269250 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... |
ORPHA:93351 |
Renpenning Syndrome |
|
Hypospadias, High, narrow palate, Pectus excavatum, Cleft palate, Skeletal muscle atrophy, Short ... |
ORPHA:3242 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... |
OMIM:618278 |
Mucopolysaccharidosis, Type Vi |
|
Anterior wedging of L1, Hypoplastic iliac wing, Macroglossia, Metaphyseal widening, Hypoplastic a... |
OMIM:253200 |
Rhabdoid Tumor |
|
Hypercalcemia, Hypertension, Thrombocytopenia, Hematuria, Anemia, Renal neoplasm, Internal hemorr... |
ORPHA:69077 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Abnormal renal physiology, Anemia, Hyp... |
ORPHA:158057 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic ili... |
OMIM:609616 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Neutropenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia, R... |
ORPHA:289916 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Leukopenia, Stage 5... |
OMIM:251000 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Nephrocalcinosis, Narrow chest, Be... |
OMIM:615633 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hydronephrosis, High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Broad thumb, Pec... |
OMIM:612541 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypoplastic inferior... |
OMIM:608940 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Gastric ulcer, Anemia, Myocardial infarction, Hip dysplasia, Chronic kidney disease... |
OMIM:208060 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, Nephropathy |
ORPHA:100024 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytop... |
ORPHA:27 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration, Abnormal concentratio... |
ORPHA:51208 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Eczema, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Panniculitis, G... |
ORPHA:508542 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Abnormality of the urinary system, Hematuria, Elevated circulating crea... |
ORPHA:91547 |
Mucopolysaccharidosis Type 6 |
|
Thick lower lip vermilion, Sinusitis, Mucopolysacchariduria, Macroglossia, Chronic otitis media, ... |
ORPHA:583 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Abnormality of epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia,... |
ORPHA:2643 |
Osteogenesis Imperfecta |
|
Carious teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Delayed ... |
ORPHA:666 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Hyperammonemia, Thrombocytopenia... |
ORPHA:79312 |
Greenberg Dysplasia |
|
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Short ribs, Supernumerary ve... |
OMIM:215140 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula... |
ORPHA:958 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Thick lower lip vermilion, Hydronephrosis, Aganglionic megacolon, Infectious encephalitis, U-Shap... |
ORPHA:847 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Proximal placement of thumb, Pseudoepiphyses, Micropenis, Short 1st metacarpal, Uret... |
OMIM:140000 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Small epiphyses, High palate, Anterior rib cupping, Metaphyseal cupping of metacarpals, Wormian b... |
OMIM:300232 |
Dermotrichic Syndrome |
|
Aminoaciduria, Aganglionic megacolon, Anemia, Abnormal vertebral morphology |
ORPHA:99688 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Anemia, Renal hypoplasia/aplasia, Thrombocytopenia, Renal insufficiency |
ORPHA:2123 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Absent tibia, Hamartoma of tongue, Renal dysplasia, Short ribs, Micropenis, Femoral... |
OMIM:613091 |
Congenital Factor Ii Deficiency |
|
Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Anemia, Microscopic hematuria, Oral cavity ... |
ORPHA:325 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Spinal canal stenosis, Tendon rupture, Reduced ejection fraction, An... |
ORPHA:85451 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... |
ORPHA:229717 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... |
ORPHA:340 |
Fanconi Anemia, Complementation Group C |
|
Horseshoe kidney, Renal agenesis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Duplicated col... |
OMIM:227645 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Micrognathia, Cleft palate, Congenital diaphragmatic hernia, Anemia, Reticuloc... |
OMIM:613309 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Duplication of the distal phalanx of hand, Absent uvula, Broad toe, Micropenis, Hypoplastic sacru... |
OMIM:268310 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Aganglionic megaco... |
OMIM:250250 |
Immunodeficiency 69 |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatosplenomegaly, Eosinoph... |
OMIM:274000 |
Feingold Syndrome Type 1 |
|
2-3 toe syndactyly, Short middle phalanx of finger, Duodenal atresia, Tricuspid stenosis, Renal d... |
ORPHA:391641 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Thoracic hypoplasia, Hydronephrosis, Cleft palate, Micrognathia, Adducted thumb, Hyp... |
OMIM:616897 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Long clavicles, Thin clavicles, Thin ribs, Delayed closure of the anterior fontane... |
OMIM:244460 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Hemivertebrae, Mandibular prognathia, Abnormal form of the vertebral bodies, Abnorma... |
ORPHA:2180 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... |
OMIM:615234 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk... |
ORPHA:94059 |
Osteopetrosis, Autosomal Recessive 5 |
|
Micrognathia, Gingival overgrowth, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, ... |
OMIM:259720 |
Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Cleft palate, Hip contracture, Skeletal muscle hypertrophy, Protrusio aceta... |
ORPHA:800 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Chronic h... |
ORPHA:231226 |
Trisomy 13 |
|
High, narrow palate, Hydronephrosis, Abnormality of the ureter, Cleft palate, Long philtrum, Abno... |
ORPHA:3378 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Horseshoe kidney, Cone-shaped epiphysis, Mitral regurgitation, Long philtrum, ... |
OMIM:157800 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Cleft palate, Craniosynostosis, Finger syndactyly, Split hand, Abnormality of the u... |
ORPHA:2145 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Cleft palate, Micrognathia, Thin ribs, Craniosynostosis, Arthrogryposis multiplex... |
OMIM:618265 |
Diamond-Blackfan Anemia 11 |
|
Cleft palate, Neutropenia, Radioulnar synostosis, Renal agenesis, Anemia, Hypoplasia of the radiu... |
OMIM:614900 |
Diamond-Blackfan Anemia 5 |
|
Hypospadias, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Reticulocytopenia |
OMIM:612528 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... |
OMIM:203780 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... |
ORPHA:1836 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Fibrochondrogenesis |
|
Cleft palate, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Short ribs, Abnormalit... |
ORPHA:2021 |
Sprengel Deformity |
|
Cervical segmentation defect, Shoulder muscle hypoplasia, Neck muscle hypoplasia, Hemivertebrae, ... |
OMIM:184400 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Open bite, Bowing of ... |
ORPHA:2097 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Short metatarsal, Prominent calcaneus, Enlargement of the costochondral... |
OMIM:223800 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... |
OMIM:609813 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Villous atrophy, Anemia, Splenomegaly, Increased circulating ferritin concentrat... |
OMIM:616050 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Nephrotic syndrome, Elevated circulating c... |
OMIM:607426 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Abnormality of the cervical spine, Parotitis, ... |
ORPHA:449427 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dys... |
ORPHA:93598 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neo... |
OMIM:152800 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Fanconi Anemia, Complementation Group E |
|
Horseshoe kidney, Renal agenesis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Duplicated col... |
OMIM:600901 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Hypertension, Lymphadenitis, Anemia, Increased circulating fer... |
OMIM:618886 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... |
ORPHA:93108 |
Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thick lower lip vermilion, Thickened ribs, Wide mouth, Drooling, S... |
OMIM:252940 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure |
ORPHA:163596 |
Dysosteosclerosis |
|
Increased intervertebral space, Oligodontia, Short ribs, Delayed eruption of teeth, Progressive b... |
OMIM:224300 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal palate morphology, Abnormal muscle fiber morphology, Skeletal muscle atrophy, Pectus car... |
ORPHA:3068 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcy... |
ORPHA:231214 |
Xanthinuria, Type I |
|
Hydronephrosis, Hyperxanthinemia, Myopathy, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria |
OMIM:278300 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar kyphosis, Hepatosplenomegaly, Conjunctivitis, Hypertrophic cardiomyopathy, Nephrotic syndr... |
ORPHA:505248 |
Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
Fanconi Anemia, Complementation Group A |
|
Horseshoe kidney, Renal agenesis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Duplicated col... |
OMIM:227650 |
Holt-Oram Syndrome |
|
Pectus excavatum, Triphalangeal thumb, Phocomelia, Atrioventricular block, Aplasia/Hypoplasia of ... |
ORPHA:392 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Odontogenic neoplasm, Thrombocytopenia, Chronic otitis media, Hypophosphatemia, Pr... |
ORPHA:534 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Erythroid hyp... |
ORPHA:231222 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Thrombocytopenia, Mandibular prognathia, Chronic rhinitis due to narrow nasal airw... |
OMIM:259710 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Sandwich appearance of vertebral bodies, Craniosynostosis, Anemia, Facial palsy, S... |
OMIM:259700 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Micrognathia, Methylmalonic acidemia, Neutropenia, Methylmalonic aciduria, H... |
OMIM:614857 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Limited pronation/supination of forearm, Cleft palate, Neutropenia, Anemia, Short middle phalanx ... |
OMIM:616738 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Hemivertebrae, Abnormality of the philtrum, Aplasia/Hypoplasia of the to... |
ORPHA:2759 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thickened ribs, Beaking of vertebral bodies,... |
OMIM:230500 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Polycythemia, Increased hematocrit, Abnormality of the k... |
ORPHA:284227 |
Goodpasture Syndrome |
|
Macroscopic hematuria, Anemia, Pulmonary hemorrhage, Cylindruria, Increased blood urea nitrogen, ... |
OMIM:233450 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
High palate, Neutropenia, Anemia, Syndactyly, Polymicrogyria, Thrombocytopenia, Aminoaciduria, Ke... |
OMIM:614520 |
Alagille Syndrome |
|
Hypertension, Micrognathia, Abnormality of the ureter, Short philtrum, Nephrotic syndrome, Abnorm... |
ORPHA:52 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Arthritis, Cardiomyop... |
OMIM:604250 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... |
OMIM:256100 |
Vacterl/Vater Association |
|
Hypospadias, Hydronephrosis, Abnormal intervertebral disk morphology, Cleft palate, Hypoplasia of... |
ORPHA:887 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Pectus excavatum, Pectus carinatum, Platyspondyly, Wormian bones, Kyphosis, Be... |
OMIM:259440 |
Radio-Renal Syndrome |
|
High, narrow palate, Micrognathia, Renal agenesis, Abnormality of the elbow, Renal dysplasia, Abn... |
ORPHA:3015 |
Hurler Syndrome |
|
Hypertension, Mucopolysacchariduria, Spinal canal stenosis, Abnormality of the elbow, Abnormal ve... |
ORPHA:93473 |
Fanconi Anemia, Complementation Group L |
|
Renal hypoplasia, Cleft palate, Anemia, Esophageal atresia, Anal atresia, Micropenis, Tracheoesop... |
OMIM:614083 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Phocomelia, Proximal placement o... |
OMIM:122470 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Ankle swelling, Hip osteoarthriti... |
ORPHA:85408 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Sinusitis, Eczema, Neutropenia, Leukemia, Metaphyseal irregularity, Delayed erupti... |
ORPHA:811 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Hypoplasia of the femoral head, Pneumonia, Salmonella osteomyelitis... |
OMIM:209950 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Gingival bleeding, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytope... |
ORPHA:88 |
Aspergillosis |
|
Abnormality of the vertebral column, Sinusitis, Intracranial hemorrhage, Neutropenia, Infectious ... |
ORPHA:1163 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Camptodactyly of finger, Micrognat... |
ORPHA:90652 |
Myhre Syndrome |
|
Hypospadias, Cleft palate, Skeletal muscle hypertrophy, Gingival cleft, Hypoplasia of the maxilla... |
ORPHA:2588 |
Lead Poisoning |
|
Abnormal T cell morphology, Hypertension, Imbalanced hemoglobin synthesis, Decreased HDL choleste... |
ORPHA:330015 |
Campomelic Dysplasia |
|
Thoracic hypoplasia, Hydronephrosis, Cleft palate, Micrognathia, Shortening of all phalanges of t... |
OMIM:114290 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... |
OMIM:263400 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Elevated red cell adenosine deaminase level, Triphalangeal thumb, Normochromic... |
OMIM:615550 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Eosinophilia, Villous atrophy, Neutropenia, Erythroderma, Coombs-positive hemolytic anemi... |
OMIM:304790 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the radius, Foot polydactyly, Hand polydactyly, Rudimentary fibula, Elbow flexion c... |
OMIM:200980 |
Gaucher Disease Type 1 |
|
Gingival bleeding, Leukopenia, Osteoarthritis, Hematuria, Pulmonary arterial hypertension, Anemia... |
ORPHA:77259 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Cleft palate, Syndactyly, Dysplastic patella, Micrognathia, High palate, Patellar ap... |
OMIM:265000 |
Aicardi-Goutieres Syndrome 9 |
|
Increased blood pressure, Micropenis, Hepatosplenomegaly, Acute pancreatitis, Hemolytic anemia, P... |
OMIM:619487 |
Three M Syndrome 2 |
|
High palate, Thin ribs, Pectus carinatum, Long philtrum, Prominent calcaneus, Short thorax, Delay... |
OMIM:612921 |
Mosaic Trisomy 8 |
|
Hydronephrosis, Cleft palate, Micrognathia, High palate, Patellar aplasia, Narrow pelvis bone, Ar... |
ORPHA:96061 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Nephritis, Ulnar bowing, Short forearm, Madelung deformity, Short tibia |
OMIM:127350 |
Osteopetrosis With Renal Tubular Acidosis |
|
Proximal renal tubular acidosis, Pancytopenia, Elliptocytosis, Micrognathia, High palate, Abnorma... |
ORPHA:2785 |
Short Rib-Polydactyly Syndrome |
|
Hypospadias, Abnormal ilium morphology, Cleft palate, Short ribs, Urogenital sinus anomaly, Cleft... |
ORPHA:1505 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction... |
OMIM:220110 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect |
OMIM:608681 |
Complement Factor I Deficiency |
|
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... |
OMIM:610984 |
Achondrogenesis Type 1B |
|
Micrognathia, Long philtrum, Short thorax, Short foot, Narrow chest, Abnormal rib morphology, Sho... |
ORPHA:93298 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Hypertrophic cardiomyopathy, Abnormal P wave, Nephrotic syndr... |
ORPHA:85443 |
Dubowitz Syndrome |
|
Hypospadias, Acute lymphoblastic leukemia, Rectal prolapse, Eczema, Aplasia/Hypoplasia of the thu... |
ORPHA:235 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Leukopenia, Pneumonia, Abnormal circulating lipid concentrati... |
ORPHA:2298 |
Propionic Acidemia |
|
Eczema, Neutropenia, Limb hypertonia, Anemia, Pancreatitis, Hyperglycinemia, Hyperammonemia, Incr... |
OMIM:606054 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Gingival bleeding, Increased mean corpuscular volume, Anemia, Hyperbilirubi... |
ORPHA:98870 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Recurrent intrapulmonary hemorrhage, Transi... |
ORPHA:183 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Skeletal muscle atrophy, Abnormality of the elbow, Abnormal form of the vertebral b... |
ORPHA:1486 |
Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Hepatitis, Anemia, Arthrogryposis multiplex congenita, Diastasis r... |
ORPHA:440713 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Myositis, Leukemia, Pure red cell aplasia, Rheumatoid arthritis,... |
ORPHA:99867 |
Porphyria Variegata |
|
Hyponatremia, Hypertension, Porphyrinuria, Anemia, Back pain, Tachycardia, Increased urinary porp... |
ORPHA:79473 |
Campomelia, Cumming Type |
|
Abnormal intestine morphology, Cleft palate, Bowing of the long bones, Abnormal thorax morphology... |
ORPHA:1318 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutrope... |
ORPHA:37042 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Cleft palate, Broad long bones, Hypoplastic iliac wing, Short ribs, Absent verte... |
OMIM:200610 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Kyphoscoliosis, Splenomegaly, Everted lower lip ve... |
OMIM:252930 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, High palate, Genu varum, Microdontia, Broad long bones, Mandibular prognathia, Cub... |
OMIM:269300 |
Familial Benign Copper Deficiency |
|
Diaphyseal thickening, Acne, Anemia, Deep philtrum, Decreased circulating copper concentration |
ORPHA:1551 |
Mirage Syndrome |
|
Hypospadias, Hyponatremia, Hyperkalemia, Intracranial hemorrhage, Radial club hand, Leukopenia, R... |
OMIM:617053 |
Microsporidiosis |
|
Sinusitis, Myocarditis, Cholangitis, Hepatitis, Abnormality of the urinary system physiology, Inf... |
ORPHA:2552 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Missing ribs, Short thorax,... |
OMIM:613686 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Glutaric aciduria, Anemia, Hyperammonemia, Increased level of hippuric acid in urine, Hyperuricem... |
OMIM:246450 |
Hardikar Syndrome |
|
Cholangitis, Esophageal varix, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Hypoplasia of the... |
OMIM:301068 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Methylmalonic aciduria, Abnormality of the mouth, Reticulocytopen... |
OMIM:275350 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Gingival bleeding, Leukopenia, Stomatitis, Hematuria, Epistaxis, Gingi... |
ORPHA:520 |
White Forelock With Malformations |
|
Abnormal palate morphology, Deep philtrum, Finger syndactyly, Sprengel anomaly, Abnormal rib morp... |
ORPHA:2475 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Hepatosplenomegaly, Fibular overgrowth, Narrow vertebral in... |
ORPHA:93352 |
Kniest-Like Dysplasia, Lethal |
|
Cleft palate, Coronal cleft vertebrae, Metaphyseal irregularity, Platyspondyly, Short ribs, Short... |
OMIM:245190 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Thin ribs, Irregular vertebral endplates, Multiple joint dislocation, Tapered f... |
OMIM:618395 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Leukemia, Complete duplication of thumb phalanx, Micropenis, Reticulocytopenia, Panc... |
OMIM:227646 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Short thumb, Pancytopenia, Thrombocytopenia, Duplication of thumb phalanx |
OMIM:616435 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cleft palate, Hamartoma of tongue, Microglossia, Short ribs, Micropenis, Short long bone, Pectus ... |
OMIM:263520 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Thin ribs, Short ribs, Severe platyspondyly, Disc-like vertebral bodies, Hyp... |
OMIM:151210 |
Gaucher Disease, Type I |
|
Hypertension, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hypertension, Splenomeg... |
OMIM:230800 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Anterior rib cupping, Pneumonia, Abnormality of pelvic girdle bone ... |
OMIM:102700 |
Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Micrognathia, Tibial bowing, Thin ribs, Pulmonary arterial hypertensi... |
OMIM:259420 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypospadias, Hypochromic microcytic anemia, Long philtrum, Anemia, Hyperalaninemia, Narrow mouth,... |
OMIM:619147 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Abnormality of neuronal migration, Myopathy, Myoglobinuria, Tubulointerst... |
ORPHA:157 |
Listeriosis |
|
Myocarditis, Splenic abscess, Pericarditis, Infectious encephalitis, Pustule, Pneumonia, Endocard... |
ORPHA:533 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Irregular vertebral e... |
OMIM:187760 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Decreased plasma free carnitine, Tubulointerstitial nephritis,... |
ORPHA:228308 |
Alveolar Echinococcosis |
|
Cholangitis, Abnormal skeletal muscle morphology, Abnormal vertebral morphology, Budd-Chiari synd... |
ORPHA:284 |
Kagami-Ogata Syndrome |
|
Long clavicles, Micrognathia, Thin ribs, Long philtrum, Long fingers, Kyphoscoliosis, Pulmonary a... |
OMIM:608149 |
Meier-Gorlin Syndrome 1 |
|
Cutaneous finger syndactyly, Cleft palate, Genu varum, Short ribs, Joint contracture of the hand,... |
OMIM:224690 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Squamous cel... |
OMIM:618849 |
Fabry Disease |
|
Hypertension, Lipiduria, Urinary mulberry cells, Anemia, Left ventricular hypertrophy, Myocardial... |
OMIM:301500 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Perisylvian polymicrogyria, Abnormal rib morphology, Abnormal vertebral m... |
ORPHA:280195 |
Prolidase Deficiency |
|
Micrognathia, High palate, Eczema, Diffuse telangiectasia, Anemia, Splenomegaly, Crusting erythem... |
OMIM:170100 |
Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Duodenal atresia, Leukopenia, Pneumonia, Pelvic kidney, Anemia, Hypoplasia of t... |
OMIM:603467 |
Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Neutropenia, Fasciitis, Hepatitis, Melena, Gastritis, ... |
ORPHA:73263 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Splenomegaly, Heparan sulfate excretion in urine, ... |
OMIM:252900 |
Simpson-Golabi-Behmel Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Splenomegaly, Fi... |
ORPHA:373 |
Osteogenesis Imperfecta, Type X |
|
Pyloric stenosis, Micrognathia, Thin ribs, Bowing of the long bones, Platyspondyly, Nephrolithias... |
OMIM:613848 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2234 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Abnormality of the urinary system, Anemia, Esophageal stricture, Urethral strictur... |
ORPHA:79409 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Anemia, Skeletal muscle atrophy, Hyperuricemia |
ORPHA:371 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Nephritis, Gingival overgrowth, Nephrolithiasis, Periodontitis, Gingivitis, Conju... |
OMIM:217090 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Micrognathia, Tibial bowing, Radial bowing, Lower limb undergrowth, Bowing of the long bones, Int... |
ORPHA:3035 |
Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
Scalp-Ear-Nipple Syndrome |
|
Renal hypoplasia, 2-3 toe syndactyly, Renal agenesis, Hypertension, Mandibular prognathia, Pyelon... |
OMIM:181270 |
Kindler Epidermolysis Bullosa |
|
Carious teeth, Inflammation of the large intestine, Short 5th metacarpal, Abnormal dental enamel ... |
ORPHA:2908 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Increased muscle lipid content, Elevated circulating... |
ORPHA:228302 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Rib gap, Short humerus, Ectopic kidney, Elbow flexion contracture, Micrognathia... |
OMIM:117650 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal form of the vertebral bodies, Tracheoesophageal fistula, Abno... |
ORPHA:93941 |
Omenn Syndrome |
|
Leukocytosis, Erythroderma, Nephrotic syndrome, Pneumonia, Abnormal lymphocyte morphology, Anemia... |
ORPHA:39041 |
Occipital Horn Syndrome |
|
Capitate-hamate fusion, Limited elbow extension, Short humerus, High palate, Pectus carinatum, Lo... |
OMIM:304150 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... |
ORPHA:300298 |
Camurati-Engelmann Disease |
|
Abnormality of the vertebral column, Carious teeth, Abnormality of the ulna, Metaphyseal dysplasi... |
ORPHA:1328 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Metaphyseal irregularity, Hypophosph... |
OMIM:239200 |
X-Linked Hypophosphatemia |
|
Genu varum, Hypophosphatemia, Odontodysplasia, Bowing of the legs, Flared iliac wing, Bowing of t... |
ORPHA:89936 |
Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Myopathy, High palate, Thin ribs, Neonatal death, Micropenis, Retrognathia, Centrall... |
OMIM:300219 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Splenomegaly, Absent natural killer cells, Incr... |
ORPHA:2442 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... |
ORPHA:139402 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hallux valgus, Cleft palate, Long upper lip, Epiphyseal dysplasia, Cupped ribs, 11 pairs of ribs,... |
OMIM:271640 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... |
ORPHA:398124 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Hematuria, Elevated circulating creatinine concentration, Anemia, Pulmonary venous ... |
ORPHA:90060 |
Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Rectal prolapse, Stomach cancer, Neoplasm of the rectum, Esophageal ne... |
ORPHA:2869 |
Familial Osteodysplasia, Anderson Type |
|
Carious teeth, Hypertension, Bifid femur, Failure of eruption of permanent teeth, Mandibular prog... |
ORPHA:2769 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Pectus excavatum, Hamartoma of tongue, Stage 5 chronic kidney disease, Bifid... |
ORPHA:2752 |
Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Chronic otitis media, Finger syndactyly, Elbow dislocation, Camptodactyly o... |
ORPHA:1507 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Micrognathia, Nephrocalcinosis, Submucous cleft hard palate, Renal dysplasia, Anemia, Bifid uvula... |
OMIM:300990 |
Multiple Pterygium Syndrome, X-Linked |
|
Micrognathia, Cleft palate, Vertebral fusion, Thin ribs, Short finger, Cleft upper lip, Joint dis... |
OMIM:312150 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Chronic otitis media, Hypopl... |
ORPHA:906 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Wormian... |
OMIM:166210 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Abnormal dental enamel mor... |
OMIM:601559 |
Holzgreve Syndrome |
|
Abnormality of the ulna, Cleft palate, Aplasia/Hypoplasia of the tongue, Bifid tongue, Renal hypo... |
ORPHA:2167 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Abnormal diaphysis morphology, Micrognathia, High palate, Overtubulated long bones, Obtuse angle ... |
ORPHA:85184 |
Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Cleft palate, Micrognathia, Pierre-Robin sequence, Alveolar rid... |
ORPHA:2886 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Hypertension, Esophageal varix, Abnormal renal insterstitial morphology, Thicke... |
ORPHA:84081 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Dysplasia of the femoral head, Delayed cranial suture closure, Micrognathia, High palate, Hypodon... |
OMIM:619127 |
Lethal Congenital Contracture Syndrome 10 |
|
Micrognathia, High palate, Adducted thumb, Long philtrum, Torticollis, Hypoplasia of the thymus, ... |
OMIM:617022 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Hypoplasia of penis, Abnormal rib morphology |
ORPHA:2772 |
Fanconi Anemia, Complementation Group P |
|
Horseshoe kidney, Micrognathia, Pelvic kidney, Anemia, Hypoplasia of the radius, Short thumb, Abs... |
OMIM:613951 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Micropenis, Methemoglobinemia |
OMIM:250790 |
Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Iron deficiency anemia, Palpitatio... |
ORPHA:100076 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Metacarpal synostosis, Cubitus valgus, Micropenis, Limited elbow extension, Unilater... |
ORPHA:95699 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Micrognathia, Decr... |
ORPHA:73230 |
Short-Rib Thoracic Dysplasia 12 |
|
Hamartoma of tongue, Neonatal death, Short thorax, Short ribs, Splenomegaly, Short toe, Short lon... |
OMIM:269860 |
Myhre Syndrome |
|
2-3 toe syndactyly, Cleft palate, Skeletal muscle hypertrophy, Enlarged vertebral pedicles, Cleft... |
OMIM:139210 |
Nephronophthisis 2 |
|
Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Nephro... |
OMIM:602088 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Torticollis, Renal dysplasia, Nephritis, Pyelonephritis, Unilateral renal atrophy |
OMIM:314300 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal dysplasia, Irregular chondrocostal junctions, Genu varum, Metaphyseal irregularity, S... |
OMIM:250420 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Splenomegaly, Heparan sulfate excretion in urine, ... |
OMIM:252920 |
Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Leukocytosis, Allergic rhinitis, Anemia, Malabsorption, Steatorrhea, Hypoalbum... |
ORPHA:2070 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Eosinophilia, Elevated circulating C-reacti... |
ORPHA:449395 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Abnormal sternum morphology, ... |
ORPHA:2990 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... |
ORPHA:470 |
Becker Nevus Syndrome |
|
Abnormality of tibia morphology, Pectus excavatum, Pectus carinatum, Shoulder girdle muscle atrop... |
ORPHA:64755 |
Scarf Syndrome |
|
Hypocalcification of dental enamel, Pectus carinatum, Long philtrum, Abnormal form of the vertebr... |
ORPHA:3134 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pustule, Stomatitis, Splenomegaly, Fused cervical vertebrae, Neutrophilia, Osteomyelitis, Skin ra... |
OMIM:612852 |
Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Cleft palate, Micrognathia, High palate, Pectus excavatum, Post... |
OMIM:311900 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Cleft palate, Smooth philtrum, Short ribs, Splenomegaly, Syndactyly, Hypertension, M... |
OMIM:613610 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Xerostomia, Anemia, Malabsorption, Clubbing, Hypomagnesemia, Glossitis, Hypocalcemia... |
OMIM:175500 |
Familial Hemophagocytic Lymphohistiocytosis |
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Neutropenia, Erythroderma, Infectious encephalitis, Abnormal renal physiology, Anemia, Splenomega... |
ORPHA:540 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Diastasis recti, H... |
ORPHA:96334 |
Ellis-Van Creveld Syndrome |
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Hypospadias, Hypodontia, Horizontal ribs, Capitate-hamate fusion, Abnormality of the alveolar rid... |
OMIM:225500 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Carious teeth, Inflammation of the large intestine, Hyperlipidemia, Tubulointerstitial fibrosis, ... |
ORPHA:79259 |
Acute Monoblastic/Monocytic Leukemia |
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Leukocytosis, Ankle swelling, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute monocyti... |
ORPHA:514 |
Antley-Bixler Syndrome |
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Cleft palate, Elbow ankylosis, Long philtrum, Narrow pelvis bone, Hypoplasia of the zygomatic bon... |
ORPHA:83 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Cleft palate, Finger syndactyly, Abnormal mandible morphology, Camptodactyly of finger, Broad alv... |
ORPHA:2215 |
Lymphoproliferative Syndrome 1 |
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Leukopenia, Stomatitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoi... |
OMIM:613011 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Cleft palate, Hamartoma of tongue, Neonatal death, Short ribs, Cleft lip, Micropenis, Short long ... |
OMIM:617925 |
Renal Dysplasia-Limb Defects Syndrome |
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Fibular aplasia, Renal hypoplasia, Micrognathia, High palate, Thin ribs, Phocomelia, Renal dyspla... |
OMIM:266910 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Renal hypoplasia, Horizontal ribs, Cleft palate, Postaxial polydactyly, Renal cyst, Short ribs, A... |
OMIM:616300 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hypospadias, Hydronephrosis, Cleft palate, 2-3 toe syndactyly, Short philtrum, Rocker bottom foot... |
ORPHA:163979 |
Neuroblastoma, Susceptibility To, 1 |
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Hypertension, Elevated urinary vanillylmandelic acid, Anemia, Elevated urinary catecholamines, Ab... |
OMIM:256700 |
Fabry Disease |
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Hyperlipidemia, Transient ischemic attack, Nephropathy, Hypertrophic cardiomyopathy, Hypertension... |
ORPHA:324 |
Acquired Methemoglobinemia |
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Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia |
ORPHA:464453 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypospadias, Absent tibia, Torticollis, Short metatarsal, Proximal placement of thumb, Hypoplasia... |
OMIM:609945 |
Multiple Pterygium Syndrome, Lethal Type |
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Micrognathia, Cleft palate, Thin ribs, Vertebral fusion, Short finger, Joint dislocation, Amyopla... |
OMIM:253290 |
Johanson-Blizzard Syndrome |
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Hypospadias, Hypoproteinemia, Hydronephrosis, Microdontia, Oligodontia, Anemia, Malabsorption, De... |
ORPHA:2315 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Brachytelephalangic Chondrodysplasia Punctata |
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Abnormality of the vertebral column, C1-C2 subluxation, Short distal phalanx of toe, Epiphyseal s... |
ORPHA:79345 |
Tetraamelia-Multiple Malformations Syndrome |
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Micrognathia, Missing ribs, Anal atresia, Multicystic kidney dysplasia, Aplasia/Hypoplasia involv... |
ORPHA:3301 |
Femoral-Facial Syndrome |
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Cleft palate, Smooth philtrum, Hypoplastic acetabulae, Micropenis, Thin upper lip vermilion, Shor... |
OMIM:134780 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Carious teeth, Dilated cardiomyopathy, IgA deposition in the glomerulus, Decreased plasma total c... |
ORPHA:79408 |
Cooper-Jabs Syndrome |
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Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thumb, Abnormal rib morpholo... |
ORPHA:1488 |
Osteopathia Striata With Cranial Sclerosis |
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Cleft palate, Pierre-Robin sequence, Joint contracture of the hand, Camptodactyly, Micrognathia, ... |
OMIM:300373 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... |
OMIM:616860 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Abnormal palate morphology, Abnormality of pelvic girdle bone morphology, Abnormal rib morphology... |
ORPHA:1506 |
Methylmalonic Aciduria, Cblb Type |
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Methylmalonic acidemia, Neutropenia, Methylmalonic aciduria, Anemia, Hyperglycinemia, Hyperammone... |
OMIM:251110 |
Cole-Carpenter Syndrome |
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Micrognathia, Bowing of the long bones, Abnormal form of the vertebral bodies, Abnormal dental en... |
ORPHA:2050 |
Pallister-Hall Syndrome |
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Cleft palate, Renal dysplasia, Neonatal death, Microglossia, Micropenis, Syndactyly, Ectopic kidn... |
OMIM:146510 |
Eiken Syndrome |
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Short middle phalanx of finger, Oligodontia, Pseudoepiphyses, Long hallux, Type A1 brachydactyly,... |
OMIM:600002 |
Developmental And Epileptic Encephalopathy 50 |
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Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Renal tubular acidosis, Anemia, Hyperammonemia |
OMIM:616457 |
Juvenile Polyposis Of Infancy |
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High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia, Midclavic... |
ORPHA:79076 |
Mucolipidosis Iii Alpha/Beta |
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Soft tissue swelling of interphalangeal joints, Mandibular prognathia, Irregular carpal bones, Ao... |
OMIM:252600 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
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High palate, Thin ribs, Penoscrotal hypospadias, Micropenis, Retrognathia, Penile hypospadias, Gl... |
ORPHA:456328 |
Cole-Carpenter Syndrome 2 |
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Pectus excavatum, High palate, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Narrow iliac wi... |
OMIM:616294 |
Dextrocardia |
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Abnormality of the spleen, Abnormality of the ureter, Meckel diverticulum, Congenital hip disloca... |
ORPHA:1666 |
Anemia, Sideroblastic, 5 |
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Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Trisomy 1Q |
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Toe syndactyly, Hydronephrosis, Cleft palate, Congenital megaureter, Congenital diaphragmatic her... |
ORPHA:261344 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
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Short hallux, Broad hallux phalanx, Hypertrophic cardiomyopathy, Wide mouth, Long philtrum, Platy... |
ORPHA:1517 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ribs, Il... |
OMIM:250220 |
Proximal 16P11.2 Microdeletion Syndrome |
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Pyloric stenosis, Micrognathia, Cleft palate, Abnormal vertebral morphology, Congenital diaphragm... |
ORPHA:261197 |
Diamond-Blackfan Anemia 3 |
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Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Orofaciodigital Syndrome Iii |
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Pectus excavatum, Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Kyphosis, Bifid ... |
OMIM:258850 |
Hereditary Acrokeratotic Poikiloderma |
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Eczema, Finger syndactyly, Camptodactyly of finger, Gingival bleeding, Open bite, Abnormal preput... |
ORPHA:2907 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... |
ORPHA:29073 |
Van Den Ende-Gupta Syndrome |
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Hallux valgus, Cleft palate, Joint contracture of the hand, Long hallux, Femoral bowing, Hypoplas... |
OMIM:600920 |
Scarf Syndrome |
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Pectus carinatum, Long philtrum, Abnormal form of the vertebral bodies, Short sternum, Diastasis ... |
OMIM:312830 |
Hereditary Orotic Aciduria |
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Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Hip dy... |
ORPHA:30 |
Stormorken Syndrome |
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Myopathy, Asplenia, Elevated circulating creatine kinase concentration, Epistaxis, Anemia, Howell... |
OMIM:185070 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Short ribs, Amelogen... |
OMIM:610319 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Neutropenia, Methylmalonic aciduria, Anemia, Hyperglycinemia, Hyperammone... |
OMIM:251100 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Hydronephrosis, Pectus excavatum, Macroglossia, Coat hanger sign of ribs, Pr... |
ORPHA:254528 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Anemia, Renal corticomedullary cysts, Stage 5 chronic ki... |
OMIM:613550 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Abnormal cardiac ventricular function, Supravalvular aortic stenosis, Pyeloneph... |
ORPHA:90349 |
Coffin-Lowry Syndrome |
|
Rectal prolapse, Lumbar kyphosis, Hypodontia, High palate, Pectus carinatum, Mitral regurgitation... |
OMIM:303600 |
Achondrogenesis, Type Ia |
|