| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... |
ORPHA:400 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Thoracolumbar scoliosis, Eczema, Eosinophilia, Keratitis, Bronc... |
OMIM:618523 |
| Eosinophilia, Familial |
|
Eosinophilia, Recurrent bronchitis, Leukocytosis, Myocardial eosinophilic infiltration, Anemia, T... |
OMIM:131400 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:614470 |
| Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonar... |
ORPHA:1163 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Chronic oral candidiasis, Osteomyelitis, Recurrent skin infecti... |
OMIM:618282 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... |
OMIM:619281 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Rigid Spine Syndrome |
|
Skeletal muscle atrophy, Hip contracture, Pneumonia, Cardiac conduction abnormality, Hyperlordosi... |
ORPHA:97244 |
| Roifman Syndrome |
|
Hepatomegaly, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricular septal defect,... |
OMIM:616651 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Bronchiectasis, Ulcerative colitis, Atopic dermatitis, Colonic e... |
OMIM:617638 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu... |
OMIM:617585 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocut... |
OMIM:147060 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology |
ORPHA:2582 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... |
OMIM:613953 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
| Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen... |
OMIM:608971 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hip contracture, Hypogonadotropic hypogo... |
ORPHA:353298 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Cough, Abnormal vertebral morphology, Abnormal pericardiu... |
ORPHA:284 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... |
OMIM:243700 |
| Atrial Standstill |
|
Ventricular escape rhythm, Skeletal muscle atrophy, Cardiac conduction abnormality, Atrial stands... |
ORPHA:1344 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... |
ORPHA:480520 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, N... |
OMIM:612541 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Crackles, Atelectasis, Hypersensitivity pneumonitis, N... |
ORPHA:2902 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Endocarditis, Abnorma... |
ORPHA:3093 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... |
ORPHA:169160 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Asplenia, Atrial septal defect, Atrioventricular can... |
ORPHA:210122 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia |
ORPHA:26137 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr... |
ORPHA:139402 |
| Dextrocardia |
|
Meckel diverticulum, Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, ... |
ORPHA:1666 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... |
OMIM:300718 |
| Legionnaires Disease |
|
Abnormal lung morphology, Cough, Infectious encephalitis, Recurrent pharyngitis, Hepatitis, Respi... |
ORPHA:549 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Oliguria, Cardiorespira... |
ORPHA:188 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cataract, Bradycardia... |
OMIM:618815 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Anemia |
ORPHA:517 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Cardiomy... |
ORPHA:79312 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... |
ORPHA:443811 |
| Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Nephrotic syndrom... |
ORPHA:39041 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Abscess, Perianal abscess, Splenomega... |
OMIM:618935 |
| Bronchogenic Cyst |
|
Back pain, Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology,... |
ORPHA:2357 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemo... |
ORPHA:3260 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Respiratory insufficiency, Pancreatitis, Kyphoscoliosis, Dysphagia |
OMIM:618230 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... |
OMIM:620265 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurren... |
ORPHA:169154 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Orbital cyst |
OMIM:251505 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... |
OMIM:615816 |
| Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Minimal ... |
ORPHA:1830 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Epicanthus, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, M... |
OMIM:219700 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Abnormality of the uret... |
ORPHA:36426 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
| Immunodeficiency 88 |
|
Asthma, Eosinophilia |
OMIM:619630 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h... |
OMIM:616871 |
| Immunodeficiency 7 |
|
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Hypere... |
OMIM:615387 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Renal tubular dysfunct... |
ORPHA:289916 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ... |
OMIM:603909 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep... |
OMIM:618999 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Asthma... |
ORPHA:2070 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency... |
ORPHA:27 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Ichthyosis-Prematurity Syndrome |
|
Neonatal respiratory distress, Eosinophilia |
ORPHA:88621 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Apnea, Eczema, Thrombocyto... |
OMIM:606054 |
| Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... |
OMIM:255600 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Left atrial enla... |
OMIM:160500 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxi... |
OMIM:600561 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Respiratory distress, Intestinal perforation, Abnormality of the urethra, ... |
ORPHA:537 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Spinal rigidity, Hyperlordosis, Respiratory insufficiency due to muscle weakness, D... |
OMIM:161800 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... |
OMIM:618986 |
| Igg4-Related Pachymeningitis |
|
Low back pain, Sinusitis, Eosinophilia, Lower limb muscle weakness, Dyspnea, Abnormal lung morpho... |
ORPHA:449427 |
| Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Chronic oral candidiasis, Abnormal proportion of CD8-po... |
OMIM:212050 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Cardiomyo... |
OMIM:609286 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomati... |
ORPHA:2688 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:619386 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac... |
OMIM:253700 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Fatty rep... |
OMIM:610687 |
| Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methyl... |
OMIM:251000 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:601859 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Aplas... |
OMIM:102700 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... |
OMIM:615290 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Malformation of t... |
OMIM:208540 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malro... |
ORPHA:436252 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Villous atrophy, Recurrent skin infections, Allergic rhinitis, ... |
OMIM:256500 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Microcytic anemia, Elevated circulating alanine aminotra... |
OMIM:618805 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Respiratory insufficiency, Distal amyotrophy, Scoliosis, T... |
OMIM:619042 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Ureteral stenosis, Vasculit... |
ORPHA:900 |
| Cln3 Disease |
|
Cataract, Acne, Vacuolated lymphocytes, T-wave inversion, Bradycardia, Left ventricular hypertrophy |
ORPHA:228346 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Reduced vital capacity, Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower l... |
OMIM:607088 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... |
ORPHA:60041 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, Microphthalmia |
ORPHA:2528 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,... |
OMIM:253600 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Mucolipidosis Type Iii |
|
Acne, Abnormal heart valve morphology, Hyperlordosis, Cleft palate, Abnormal form of the vertebra... |
ORPHA:577 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv... |
ORPHA:724 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... |
OMIM:613490 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Productive cough, ... |
OMIM:615482 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count, Chronic oral candidiasis |
OMIM:615592 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Dysmenorrhea, Splenomegaly, Congestive heart failure... |
ORPHA:79083 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Kyphoscoliosis, Platyspondyly, Cervical instability, Erythroderma, Thoracolumbar ky... |
OMIM:617425 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Abnormal macrophage morphology, Calf muscle pseudohypertr... |
ORPHA:353 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respi... |
OMIM:602450 |
| Cach Syndrome |
|
Premature ovarian insufficiency, Flexion contracture, Renal hypoplasia, Secondary amenorrhea, Hep... |
ORPHA:135 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Respirato... |
OMIM:603034 |
| Sandhoff Disease |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Kyphosis, Congestive heart failure |
ORPHA:796 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infection, Perianal a... |
ORPHA:2686 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin r... |
ORPHA:331206 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia |
OMIM:607115 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Respiratory insufficiency, Skel... |
OMIM:613156 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T... |
ORPHA:466650 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Fatty replacement of skeletal mu... |
OMIM:620249 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Proximal amyotrophy, Scoliosis |
OMIM:617404 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... |
ORPHA:171 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Hyperlordosis, Cryptorchidism, Nephrotic syndrome, Hypertension, Abnormal mitral val... |
ORPHA:1192 |
| Vernal Keratoconjunctivitis |
|
Pruritus, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Cornea... |
ORPHA:70476 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, Abnormal intestine morphology, ... |
ORPHA:397596 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Spinal muscular atrophy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Scapulo... |
OMIM:611067 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| Isolated Glycerol Kinase Deficiency |
|
Cryptorchidism, Myopathy, Scoliosis, Hyperlordosis |
ORPHA:408 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, Cl... |
ORPHA:2314 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat... |
ORPHA:2552 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
| Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou... |
ORPHA:228123 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Seve... |
ORPHA:83617 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... |
ORPHA:293173 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Idiopathic Congenital Hypothyroidism |
|
Autoimmune antibody positivity, Increased radioactive iodine uptake, Macroglossia, Bradycardia, D... |
ORPHA:95717 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer ... |
OMIM:612444 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, High palate, Scoliosis, Joint contracture, Lower limb muscle w... |
OMIM:611225 |
| Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Co... |
ORPHA:73263 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscl... |
ORPHA:2348 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Hepatomegaly, Scapular win... |
ORPHA:26791 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Congenita... |
OMIM:602484 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, T lymphocytopenia, Abnormality of the cervical spine, Hepatomegal... |
ORPHA:508533 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... |
OMIM:607594 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Asthma, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... |
ORPHA:363454 |
| Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... |
OMIM:613807 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Sterile pyuria, Tubulointerstitial nephritis, Cholecysti... |
ORPHA:449395 |
| Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, High palate, Scolio... |
OMIM:618524 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxida... |
ORPHA:277 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous candidiasis, F... |
OMIM:158310 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Developmental cataract, Abnormal left ventricular function, Ca... |
OMIM:613155 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Hypertension, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
| Acute Lung Injury |
|
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... |
ORPHA:178320 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Spleni... |
OMIM:603903 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Peptic ulcer,... |
ORPHA:98849 |
| Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... |
ORPHA:232 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Congestive heart failure, Quadriceps muscle weakness, D... |
ORPHA:206546 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Apla... |
ORPHA:2470 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Skeletal muscle atrophy, Eosinophilia, Megaloblas... |
ORPHA:90045 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... |
ORPHA:280333 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Apl... |
ORPHA:2255 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Microcytic anemia, Chole... |
ORPHA:774 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Conjunctiviti... |
ORPHA:99827 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle ... |
ORPHA:86812 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
| Acitretin/Etretinate Embryopathy |
|
Epicanthus, Antecubital pterygium, Hypoplasia of the thymus, Third degree atrioventricular block,... |
ORPHA:40366 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... |
OMIM:600001 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma |
OMIM:610163 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Kyphoscoliosis, Myocardial infarction, Methioninuria, Mitral valve prolapse, High... |
OMIM:236200 |
| Pauci-Immune Glomerulonephritis |
|
Tubulointerstitial nephritis, Granulomatosis, Cough, Nephrotic range proteinuria, Decreased glome... |
ORPHA:93126 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Muscular edema |
ORPHA:3165 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Hiatus hernia, Pancreatic cysts, Sple... |
OMIM:610199 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Gastrointestinal ... |
ORPHA:342 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... |
OMIM:619991 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral cryptorchi... |
OMIM:619542 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency... |
OMIM:240300 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Cleft palate... |
OMIM:256050 |
| Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Hepatitis, Renal ... |
ORPHA:562 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Epistaxis, Diffuse alveolar ... |
OMIM:614034 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Tachycardia, Pancreatitis, Jaundice, Cholesterol galls... |
ORPHA:521219 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy... |
OMIM:301000 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Exertional dys... |
ORPHA:352470 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Dysphagia, Gastroesophageal reflux, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
| Igg4-Related Aortitis |
|
Low back pain, Intestinal obstruction, Increased inflammatory response, Asthma, Hypereosinophilia... |
ORPHA:449400 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Reduced forced vital c... |
OMIM:607155 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Pancreatitis |
OMIM:620137 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... |
OMIM:253000 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... |
OMIM:232800 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Renal insufficiency, Sinusitis, Pericarditis, Epistaxi... |
ORPHA:727 |
| Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Autoimmune th... |
OMIM:301082 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Neoplasm of the pancreas, Abnormal bleeding, Torti... |
ORPHA:370348 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... |
ORPHA:141152 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Orchitis, Abnormal lung morpholog... |
ORPHA:449563 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Nephrocalcinosis, Inflammation of the large intestine, Pe... |
ORPHA:79259 |
| Pentalogy Of Cantrell |
|
Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Cong... |
ORPHA:1335 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Hyperlordosis, Centra... |
OMIM:617760 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Gastrointestinal infarctions, Nephrotic range proteinuria, Acute ... |
ORPHA:544482 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atr... |
OMIM:615512 |
| Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat... |
OMIM:613327 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Pneumonia... |
ORPHA:436159 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Congestive heart failure, Bradycardia |
OMIM:619048 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Increased T cell count, ... |
ORPHA:797 |
| Neonatal Alloimmune Neutropenia |
|
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent... |
OMIM:235200 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia |
OMIM:300752 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... |
ORPHA:1354 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Coug... |
ORPHA:319218 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility... |
ORPHA:244 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... |
OMIM:615952 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, ... |
OMIM:619487 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Dyspnea, Vacuo... |
ORPHA:565612 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neut... |
OMIM:232220 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, ... |
OMIM:255200 |
| Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
| Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosi... |
ORPHA:3392 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... |
OMIM:609308 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F... |
OMIM:160900 |
| Congenital Analbuminemia |
|
Increased circulating antibody level, Low pulse pressure |
ORPHA:86816 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Congestive heart failure, Flexion contra... |
ORPHA:157973 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, Splenomegaly, Osteoarthritis, P... |
ORPHA:77259 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block, Long eyebrows |
OMIM:614407 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Hepatosplenomega... |
ORPHA:2072 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Fulm... |
OMIM:308240 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Dyspnea, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic... |
OMIM:615156 |
| Marburg Hemorrhagic Fever |
|
Back pain, Nonproductive cough, Odynophagia, Uveitis, Leukopenia, Abnormal lymphocyte morphology,... |
ORPHA:99826 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... |
OMIM:266265 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... |
ORPHA:98863 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Camptodactyly of finger, Abnormality iris morphology, Microphthalmia, Downslanted palpe... |
ORPHA:1617 |
| Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Hyperlordos... |
ORPHA:354 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hypospadias, Kyphosis, Aplasia/Hypoplasia of the lungs, Scolios... |
ORPHA:1548 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture... |
ORPHA:2590 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Patent ductus arteriosus, Ventricular tachycardia, Atrioventric... |
OMIM:601005 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98853 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Anal atresia, Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Sialuria |
|
Neuropathic spinal arthropathy, Hepatomegaly, Elevated hepatic transaminase, High, narrow palate,... |
ORPHA:3166 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Ab... |
ORPHA:52430 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p... |
ORPHA:98905 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Recurre... |
OMIM:619170 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Recurrent respiratory infections, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar scol... |
ORPHA:3041 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,... |
OMIM:617388 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
| Rat-Bite Fever |
|
Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymph... |
ORPHA:31205 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Distal amyotrophy, Hypogonadism, Oligomenorrhea, Infertility, Dysphagia, Delayed m... |
ORPHA:412057 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol le... |
ORPHA:199299 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Ptosis |
OMIM:300915 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax,... |
ORPHA:36238 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Short neck, Flexion contracture, Leukopenia, Thoracic kyphosis, Conjunctivi... |
ORPHA:505248 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology |
OMIM:602248 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
| Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Recurrent respiratory infections, Lumbar hyperlordosis, Anh... |
OMIM:230000 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma, Ptosis |
ORPHA:1473 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98855 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Hyperlordosis, Microcytic anemia, Ra... |
OMIM:600462 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricular block, Premature ventri... |
OMIM:212138 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Irregular vertebral endplates, T lymphocytopenia, Neutropenia, Ju... |
OMIM:607944 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
| Trisomy 8P |
|
Sacral dimple, Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Cry... |
ORPHA:264450 |
| Familial Anetoderma |
|
High, narrow palate, Lumbar hyperlordosis |
ORPHA:228277 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... |
OMIM:619632 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Thrombocytopenia, Gi... |
ORPHA:238459 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Eczema, Hemolytic anemia |
OMIM:177000 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma, Decreased CD4:CD8 ratio |
OMIM:607271 |
| Schimke Immunoosseous Dysplasia |
|
Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, Neutropenia,... |
OMIM:242900 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Myocardial infarction, Intestinal perforation, Thrombocytopenia, Periton... |
ORPHA:90038 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Ventricular septal defect, Kyphosis, High, narrow palate, Recurrent pneumonia, Cleft... |
ORPHA:464738 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Cleft palate, Scoliosis... |
OMIM:222600 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Weakness of facial musculature, Lumbar hyperlordosis, High palate, Thoracolumbar scoliosis |
OMIM:610313 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Hyperlordosis, Short neck, Abnormal sacrum morphology, Cleft pa... |
ORPHA:1797 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
| Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... |
ORPHA:822 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, In... |
ORPHA:95716 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Bradycardia, Hypotension |
ORPHA:70587 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Cl... |
OMIM:619980 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Dysphagia |
OMIM:617054 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... |
OMIM:618775 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Recurrent respiratory infections, Pa... |
OMIM:613385 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
| Myasthenic Syndrome, Congenital, 16 |
|
High palate, Apnea, Hyperlordosis |
OMIM:614198 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... |
ORPHA:62 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... |
ORPHA:3202 |
| Monosomy 18P |
|
Epicanthus, Autoimmunity, Hypertension, Webbed neck, Microphthalmia, Hypothyroidism, Ptosis |
ORPHA:1598 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia, Asthma, Palmoplantar hyperhidrosis, Erythroderma |
OMIM:270300 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Thrombocytopenia, Intraalveolar phospholipid... |
OMIM:222700 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Knee flexion contracture, Upslanted palpebral fissure, Astigmatism, Camptodactyly, Long... |
OMIM:619694 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Right ventricular dilatation, Restric... |
ORPHA:369840 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Rhabdomyolysis, Hematochezia, Cholestatic li... |
ORPHA:79095 |
| Immunodeficiency 13 |
|
Lymphopenia, Nasal polyposis, Recurrent pneumonia, Bronchiolitis obliterans organizing pneumonia,... |
OMIM:615518 |
| Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Cough, Infectio... |
ORPHA:454836 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Acquired Partial Lipodystrophy |
|
Proteinuria, Myopathy, Lymphocytosis, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... |
OMIM:616433 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal lung morphology, Abnormal form of the vertebral bodies, Cough, Ecch... |
ORPHA:464329 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia |
OMIM:614654 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology, Hypohidrosis |
OMIM:125595 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... |
ORPHA:1572 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Secondary amenorrhea, Po... |
ORPHA:3085 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Eczema, Thrombocytopenia, Bronchiectasis, Lumbar kyphosis, Leukopenia,... |
OMIM:620184 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil coun... |
ORPHA:3226 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Pustule, Glucocortocoid-insensitive primary hyperaldosteronism, Wheezing, Atopic d... |
ORPHA:171876 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Wheezing, Kne... |
ORPHA:2035 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Atrial septal defect, Ventricular septal defect, Eosinophilia, Shoulder mus... |
OMIM:274000 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibe... |
OMIM:620285 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Furrowed tongue, High palate, Scoli... |
ORPHA:1387 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, Hematochezia, Con... |
OMIM:243150 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... |
OMIM:619752 |
| Ck Syndrome |
|
Kyphosis, High palate, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine... |
OMIM:611881 |
| Typical Nemaline Myopathy |
|
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle muscle weakness, ... |
ORPHA:171436 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb amyotrophy, Scoliosis, Low... |
OMIM:617087 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
| Anauxetic Dysplasia 2 |
|
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Prostatitis, Enlarged l... |
ORPHA:449432 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ... |
ORPHA:169186 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... |
OMIM:602347 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... |
ORPHA:234 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Zollinger-Ellison syndrome, Stomatitis, Cholelithiasis, Abnormal biliar... |
ORPHA:438274 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Cryptorchi... |
OMIM:611890 |
| Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Kyphoscoliosis, Keratitis, Leukocyto... |
OMIM:308300 |
| Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus... |
OMIM:300991 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Recurrent respiratory infections, Facial hypotonia, Cryptorchidism,... |
OMIM:300534 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Yellow Fever |
|
Anuria, Internal hemorrhage, Abnormal bleeding, Neutrophilia, Elevated circulating aspartate amin... |
ORPHA:99829 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Recurrent respiratory infections |
ORPHA:85288 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Abnormal EKG, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insuffic... |
OMIM:310200 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... |
OMIM:261740 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Absent o... |
OMIM:615500 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Amenorrhea, Cardiomyopathy, Arthrit... |
OMIM:604250 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven... |
ORPHA:258 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Cardiac arrest... |
ORPHA:20 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Acute rhabdomyolysis, Camptodactyly of finger, Microcornea, Long eyelashes, Microphthalmia |
ORPHA:48431 |
| Rotor Syndrome |
|
Pruritus, Conjunctival icterus |
ORPHA:3111 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Hypertension, Ovarian cyst, Increased circulating cortisol level, Primary hypercortisol... |
OMIM:610475 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dysmenorrhea, Sp... |
ORPHA:280365 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Upper limb muscle weaknes... |
ORPHA:90117 |
| Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... |
OMIM:167800 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Si... |
OMIM:244400 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
| Incontinentia Pigmenti |
|
Telangiectasia of the skin, Skin rash, Supernumerary nipple, Eosinophilia, Keratitis, Congestive ... |
ORPHA:464 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... |
OMIM:616852 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, High palate, Camptodactyly, Neonat... |
OMIM:618393 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hyperhidrosis, Hypertensi... |
OMIM:614653 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili... |
OMIM:267010 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Mahvash Disease |
|
Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Short neck, Cryptorchidism, High, narrow palate, Abnorma... |
ORPHA:96092 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne... |
ORPHA:37042 |
| Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Skin rash, Abnormal gastric mucosa morphology, Jaundice... |
ORPHA:779 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Decreased response to growth hormone ... |
OMIM:216550 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Urinary incontinenc... |
OMIM:617114 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Gastroesophageal reflux, Cough, Hepatomegaly, Tricuspid regurgitation, Atelectasis, Leu... |
OMIM:620233 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... |
ORPHA:1791 |
| Shigellosis |
|
Intestinal perforation, Uveitis, Paralytic ileus, Hypovolemic shock, Conjunctivitis, Acute coliti... |
ORPHA:810 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Anorectal anomaly, Abnormal lung lobation, Hypoplasia of the thymus, Gastroesophageal... |
ORPHA:567 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis... |
OMIM:612387 |
| Lujo Hemorrhagic Fever |
|
Shock, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Leukocytosis, Hyperh... |
ORPHA:319213 |
| Mirage Syndrome |
|
Lymphopenia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, T... |
OMIM:617053 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Oligomeno... |
ORPHA:435651 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi... |
OMIM:619339 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Situs in... |
OMIM:613808 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, High palate, Aspiration pneumonia, Foot dorsiflexo... |
ORPHA:2020 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:616428 |
| Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, High palate, Gastroesophag... |
OMIM:188400 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Res... |
ORPHA:51636 |
| Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg... |
ORPHA:550 |
| Necrotizing Enterocolitis |
|
Shock, Peritonitis, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Flexion contracture, Oligosacchariduria, Lower limb muscle we... |
ORPHA:365 |
| Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... |
OMIM:253010 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Dysp... |
OMIM:618323 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertension |
OMIM:608600 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Steatorrhea, Macroglossia, Distal arthrogr... |
OMIM:618268 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... |
OMIM:618982 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... |
ORPHA:435387 |
| Grfoma |
|
Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circ... |
ORPHA:97261 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, T lymph... |
OMIM:618108 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Stomatitis, Spider hemangioma, Chronic pancreatit... |
OMIM:232240 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
| Immunodeficiency 11A |
|
Monocytopenia, Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T c... |
OMIM:615206 |
| Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Eczema, Abnormality of neutrophils, Kyphosi... |
OMIM:169400 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Recurrent pha... |
ORPHA:829 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Chronic oral candidiasis, Recurrent bacterial skin infections, Skin rash, Pneumonia... |
ORPHA:276 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Microcyti... |
ORPHA:90308 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619064 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liv... |
ORPHA:1304 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Respiratory in... |
ORPHA:178148 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:616481 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia, Recurre... |
OMIM:613502 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Arthralgia/arthritis, Ost... |
ORPHA:449280 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Congenital Rubella Syndrome |
|
Cataract, Skin rash, Corneal opacity, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, A... |
ORPHA:290 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Bronchiectasis, Macroglossia, T lymphocyt... |
OMIM:242860 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Kyphoscoliosis, Hyperlordosis, Cleft palate, Irregular vertebral endplates, Coro... |
OMIM:618363 |
| Pierpont Syndrome |
|
Telecanthus, Microcornea, Narrow palpebral fissure, Blepharophimosis, Microphthalmia, Unilateral ... |
OMIM:602342 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Bitot spots of the conjunctiva |
OMIM:277350 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral height, Hypothyroidism, Renal ... |
OMIM:616817 |
| Wells Syndrome |
|
Vasculitis, Eosinophilia |
ORPHA:901 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Dextrocardia, S... |
OMIM:615444 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616171 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... |
ORPHA:353327 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Aganglioni... |
ORPHA:175 |
| Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Anterior wedging of L1, Hepatomegaly, Lumbar hyperlordosis, Tricuspid regurg... |
OMIM:253200 |
| Alpha-Mannosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Short neck, Kyphosis, Splenomegaly, Narrow palate... |
ORPHA:61 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Double outlet right ventricle, Cough,... |
OMIM:618254 |
| Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... |
ORPHA:781 |
| Melioidosis |
|
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tra... |
ORPHA:31202 |
| Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial... |
ORPHA:2038 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
| Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... |
ORPHA:60033 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Macroglossia, Bradycardia, Congenital hypothyroidism |
ORPHA:226313 |
| Sepsis In Premature Infants |
|
Tachycardia, Increased circulating interleukin 6 concentration, Thrombocytopenia, Leukocytosis, S... |
ORPHA:90051 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:269920 |
| Emanuel Syndrome |
|
Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Atrial septal defect, Micr... |
OMIM:609029 |
| Pancreatic And Cerebellar Agenesis |
|
Apnea, Secundum atrial septal defect, Flexion contracture, Pancreatic hypoplasia, Anemia, Pancrea... |
OMIM:609069 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... |
ORPHA:183675 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan... |
ORPHA:54251 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Patent ductus arteriosus, Corneal ulceration, Conjunctivitis, Recurrent corneal erosio... |
OMIM:153400 |
| Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Sacral dimple, Pneumonia, Decreased response to growth hormone stimulation ... |
OMIM:603467 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Parathyroid carcinoma, Recurrent... |
OMIM:145001 |
| Felty Syndrome |
|
Episcleritis, Hepatomegaly, Recurrent respiratory infections, Sinusitis, Pericarditis, Splenomega... |
ORPHA:47612 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
| Pierpont Syndrome |
|
Microphthalmia, Narrow palpebral fissure, Telecanthus, Microcornea |
ORPHA:487825 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenit... |
OMIM:314580 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Kyphosis, Congestive heart failure, Myopathy, Macro... |
OMIM:618234 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Kyphosis, Hypogonadism, Congenital muscular dystrophy, Abnormality of ... |
ORPHA:1875 |
| Microphthalmia, Syndromic 8 |
|
Blepharophimosis, Microphthalmia, Microcornea, Short palpebral fissure |
OMIM:601349 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... |
OMIM:618955 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... |
OMIM:616100 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, B... |
OMIM:610768 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... |
ORPHA:99642 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... |
OMIM:619897 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis |
OMIM:252605 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... |
ORPHA:95430 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:612650 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Tricuspid regurgitation, Patent ductus arteriosus, Peters anomaly, Microphthalmia |
OMIM:618652 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hyperlordosis, Central diaphragmatic hernia, Ga... |
OMIM:617450 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:615481 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... |
ORPHA:2522 |
| Hypochondroplasia |
|
Hyperlordosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Scol... |
ORPHA:429 |
| Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:615761 |
| Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Nephropathy, Hepatomegaly, Prolonged b... |
ORPHA:809 |
| Mody |
|
Elevated hemoglobin A1c, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreatic ... |
ORPHA:552 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Rhabdomyolysis, Hyperhidrosis, H... |
ORPHA:94093 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, B lymphocytopenia, High palate, Chronic ... |
OMIM:614069 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Central hypoventilation, Fac... |
ORPHA:171881 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... |
ORPHA:79124 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Kne... |
ORPHA:2848 |
| Cofs Syndrome |
|
Microphthalmia, Cataract, Arthrogryposis multiplex congenita, Camptodactyly of finger |
ORPHA:1466 |
| Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot... |
OMIM:613193 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ... |
OMIM:614868 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regene... |
ORPHA:247691 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Cleft palate, Renal cyst, Horseshoe kidney, Cystic liver ... |
OMIM:612284 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck,... |
OMIM:114300 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Decreased ... |
OMIM:618063 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Cough... |
OMIM:616037 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Bradycardia, Limb hypertonia |
OMIM:614498 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Upslanted palpebral fissure, Microcorn... |
OMIM:152950 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertensio... |
ORPHA:64743 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Autoimmune antibody positivity, Increased radioactive iodine uptake, Congenital hypothyroidism, M... |
ORPHA:90673 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Epicanthus, Arrhythmia, Acne |
ORPHA:3191 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent circulating B cells, Recu... |
OMIM:620282 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Lower limb muscle weakness, Hypertension, Myopathy... |
OMIM:615980 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Neonatal respiratory distress, Tricuspid regurgitation, Ventricular septal defect, Scapular wingi... |
OMIM:618870 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
| O'Sullivan-Mcleod Syndrome |
|
Upper limb muscle weakness, Eosinophilia, Intrinsic hand muscle atrophy, Hand muscle weakness |
ORPHA:99965 |
| Warburg Micro Syndrome 1 |
|
Microcornea, Microphthalmia, Developmental cataract, Ptosis |
OMIM:600118 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Congenital muscular dystrophy, Developmental ... |
ORPHA:324416 |
| Ck Syndrome |
|
Lumbar hyperlordosis, High palate, Kyphoscoliosis |
ORPHA:251383 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Ciliary Dyskinesia, Primary, 41 |
|
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... |
OMIM:618449 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:615451 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Decreased muscle mass, Proteinuri... |
OMIM:232200 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Short neck, Hypoplasia of the small intesti... |
OMIM:200995 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Anemia |
ORPHA:2598 |
| Temtamy Syndrome |
|
Aortic regurgitation, Highly arched eyebrow, Lens luxation, Ectopia lentis, Microphthalmia, Downs... |
OMIM:218340 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Tachycardia, Fasciitis, Myositis, Pneumon... |
ORPHA:39812 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon, Sclerocornea |
OMIM:611038 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Micro... |
OMIM:278730 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Stomach cancer, Goiter, Pituit... |
ORPHA:733 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Pulmonary arterial hypertension, Congenital diaphragmatic hernia, Highly arched e... |
OMIM:300887 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Cataract, Optic nerve hyp... |
ORPHA:370959 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis... |
OMIM:255800 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Brain abscess, Lumbar hyperlordosis, Urinary incontinence, K... |
OMIM:616482 |
| Glutamine Deficiency, Congenital |
|
Flexion contracture, Bradycardia, Camptodactyly |
OMIM:610015 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Kyphosis, Abnormal heart morpholo... |
ORPHA:79327 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Respiratory insu... |
ORPHA:352447 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abnormal peri... |
ORPHA:67 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl... |
ORPHA:26793 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Hepatomegaly, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia ... |
ORPHA:75564 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... |
ORPHA:91355 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Anal stenosis, Lumbar hy... |
OMIM:250250 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal hea... |
ORPHA:77293 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma... |
ORPHA:247585 |
| Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Apnea, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion ... |
ORPHA:97297 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Situs inversus totalis, Recurre... |
OMIM:617092 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Eczema, Kyphosis, Cryptorchidism, Abnormal heart morphology, Congenital contracture, Joint contra... |
ORPHA:352490 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Abnormal intervertebral disk morphology, Multicystic kidney dysplasia, Hypos... |
ORPHA:887 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... |
OMIM:616471 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, High p... |
OMIM:619472 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Premature osteoarthritis, Upper airway obstruction, Hepatosplenomegaly... |
ORPHA:93352 |
| Cat-Eye Syndrome |
|
Microphthalmia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:195 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Cryptorchidism, Flexion con... |
OMIM:618484 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ... |
ORPHA:542323 |
| Refsum Disease |
|
Skeletal muscle atrophy, Cataract, Heart block, Splenomegaly, Cardiomyopathy, Microphthalmia, Ptosis |
ORPHA:773 |
| Paroxysmal Hemicrania |
|
Palpebral edema, Hypertension, Rhinitis, Conjunctival hyperemia, Ptosis |
ORPHA:157835 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Cleft palate, Coronal cleft vertebrae, Platyspondyly, Multiple renal cysts,... |
ORPHA:1190 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Pericardial e... |
ORPHA:292 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... |
OMIM:619705 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcornea, Keratoconjunctivitis sicca,... |
ORPHA:1806 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Goiter, Situs inversus totalis, Wheezing, Bronchiectasis, Chron... |
OMIM:617577 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Intestinal malrotation, Portal hypertension, Cough, ... |
OMIM:613658 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Respiratory insufficiency... |
OMIM:254090 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... |
ORPHA:97287 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Eczema, Hypospadias, Dextrocardia, Cryptorchidism, Aplasia/Hypoplasia ... |
ORPHA:96097 |
| Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Webbed neck, Long palpebral fissure, Microphthalmia, Ptosis |
OMIM:614583 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Unilateral renal agenesis, Hyperlordosis,... |
ORPHA:221139 |
| Sialidosis Type 2 |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Kyphosis, Dyspnea, Flexion contracture, Neph... |
ORPHA:87876 |
| Proteus Syndrome |
|
Limbal dermoid, Splenomegaly, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro... |
OMIM:208500 |
| Mucopolysaccharidosis Type 6 |
|
Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyp... |
ORPHA:583 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Three M Syndrome 1 |
|
Neonatal respiratory distress, Scapular winging, Hypospadias, Hyperlordosis, Short neck, Increase... |
OMIM:273750 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Recurrent lower respir... |
OMIM:253250 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Jaundice... |
ORPHA:1667 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Renal tubular dysfunction, Atrial septal defect, Cholelithiasis, D... |
OMIM:614886 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ven... |
OMIM:620296 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc... |
OMIM:617253 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... |
OMIM:602668 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... |
OMIM:615872 |
| Myotonia Permanens |
|
Hyperlordosis, Dyspnea, Asthma, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Dysp... |
ORPHA:99735 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Proteinuria, Abnormal cardiovasc... |
ORPHA:79086 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Hyperl... |
ORPHA:3068 |
| Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrh... |
ORPHA:340 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, Hypospadias, Dextrocardia, Short neck, Cryptorchidism, Kyphosis, High, nar... |
OMIM:248700 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Purpura, Pancytopenia, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage, P... |
ORPHA:520 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| 3C Syndrome |
|
Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Gastroesophageal reflux, Abn... |
ORPHA:7 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Cataract, Pectoral muscle hypoplasia/aplasia, Camptodactyly, Microphthalmia, Joint co... |
OMIM:136760 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... |
ORPHA:398124 |
| Bloom Syndrome |
|
Bronchitis, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased proportion ... |
ORPHA:125 |
| Generalized Eruptive Keratoacanthoma |
|
Pruritus, Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis, Ectropion |
ORPHA:411777 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Short neck, Heparan... |
OMIM:309900 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615504 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Prolonged neonatal jaundice, Cryptorchidism |
OMIM:618512 |
| Cernunnos-Xlf Deficiency |
|
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... |
ORPHA:169079 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bron... |
OMIM:614935 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow... |
ORPHA:313892 |
| Stiff-Person Syndrome |
|
Tachycardia, Autoimmunity, Asymmetric limb muscle stiffness, Hyperhidrosis, Hypertension, Proxima... |
OMIM:184850 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ... |
OMIM:608647 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Hydronephrosis, High palate, Micropenis, Decr... |
OMIM:619185 |
| Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Hepatomegaly, Camptodactyly of finger, Th... |
OMIM:607015 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, ... |
OMIM:613989 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Skeletal muscle atrophy, Porta... |
ORPHA:367 |
| Listeriosis |
|
Back pain, Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granu... |
ORPHA:533 |
| Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Achilles tendon contracture, Atopic dermatitis, Scoliosis, Left ventricular... |
OMIM:619719 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Malabsorption... |
ORPHA:83471 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... |
OMIM:618459 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
| Glossopharyngeal Neuralgia |
|
Autoimmunity, Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... |
ORPHA:1302 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Decreased response to growth h... |
ORPHA:1855 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita |
OMIM:616570 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Arrhythmia, Camptodactyly |
OMIM:618453 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchie... |
OMIM:611884 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Increased fecal coproporphyrin... |
OMIM:263700 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Cataract, Facial hypotonia, Webbed n... |
ORPHA:85194 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... |
OMIM:611588 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis, Micropenis, Scheuermann-like vertebral changes, Cervical spi... |
OMIM:301900 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Myopathy, Neonatal death, Hypertrophic cardiomyopathy |
OMIM:618237 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Pericarditis, Fasciitis, Myositis, Skin rash, Orchitis, Abnormal sacroili... |
ORPHA:32960 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Wheezing, Abnormality of th... |
ORPHA:79456 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, Microphthalmi... |
ORPHA:335 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Au... |
OMIM:613179 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, ... |
ORPHA:391487 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... |
ORPHA:97278 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia,... |
OMIM:606763 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ... |
ORPHA:449285 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Rectal prolapse,... |
ORPHA:904 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia... |
ORPHA:572 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Lacrimal duct atre... |
OMIM:300952 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... |
OMIM:617341 |
| Mucopolysaccharidosis, Type Vii |
|
Short neck, Thoracolumbar kyphosis, Flexion contracture, Anterior beaking of lumbar vertebrae, He... |
OMIM:253220 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Short neck, Renal cyst, Atrial septal defect, Hy... |
OMIM:229850 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy |
OMIM:619272 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky... |
OMIM:615084 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613157 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract... |
OMIM:137920 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... |
OMIM:209920 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Short neck, Complete atrioventr... |
OMIM:617925 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... |
OMIM:617091 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Patent ductus arteriosus, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Esophageal atresia,... |
OMIM:227646 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... |
ORPHA:662 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Cle... |
ORPHA:163979 |
| Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Recurrent cutan... |
ORPHA:96253 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... |
OMIM:616589 |
| Tetrasomy 9P |
|
Myositis, Short neck, Biliary atresia, High palate, Micropenis, Patent foramen ovale, Bifid uvula... |
ORPHA:3310 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hyperhidrosis, Pheochromocytoma, Ganglioneuromatosis, Elevated urinary vanillylmandelic acid, Hyp... |
ORPHA:653 |
| Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,... |
ORPHA:90291 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... |
ORPHA:75840 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Osteoarthritis, Abnormal form of the ve... |
ORPHA:750 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Epicanthus, Downslanted palpebral fissures, Leukemia |
OMIM:602501 |
| Encephalitis Lethargica |
|
Upper limb muscle weakness, Autoimmunity, Increased circulating antibody level, Bradycardia |
ORPHA:83600 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorption, Primary hype... |
OMIM:145981 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Trichothiodystrophy 3, Photosensitive |
|
Cataract, Increased circulating IgA level, Developmental cataract, Neutropenia, Microphthalmia, L... |
OMIM:616395 |
| Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Long palpebral fissure, Microphthalm... |
OMIM:243310 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... |
ORPHA:2635 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... |
OMIM:264180 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Pancytopenia, Ventricular septal ... |
OMIM:614576 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperhidrosis, Skeletal muscle atrophy, Hyperlordosis |
ORPHA:970 |
| Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Gastroesophageal reflux, Scoliosis |
OMIM:300434 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Epididymitis, Bronchiectasis, Prostatitis, ... |
OMIM:300755 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Hypospadias, Neutropenia, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia,... |
OMIM:618253 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Premature osteoarthritis, Lumbar hyperlordosis |
OMIM:165800 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Decr... |
OMIM:620197 |
| Scorpion Envenomation |
|
Bundle branch block, Tachypnea, Hyperhidrosis, Prominent U wave, Priapism, Ketonuria, Elevated ci... |
ORPHA:466677 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia |
ORPHA:1203 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
| Temtamy Syndrome |
|
Microphthalmia, Telecanthus, Iris coloboma |
ORPHA:1777 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
| Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne... |
ORPHA:512 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Intest... |
ORPHA:2308 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Eczema, Splenomegaly, Conge... |
OMIM:615895 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, High, narrow pala... |
ORPHA:2789 |
| Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypo... |
OMIM:212720 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Short neck, Knee osteoarthritis, T... |
ORPHA:93284 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Hypospadias, Ventricular septal defect, Short neck, Cryptorchid... |
OMIM:147791 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Cryptorchidism, Congenital pyloric atresia, Hyperhidrosis, Vertebral segmentation defec... |
ORPHA:2617 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hyper... |
OMIM:203800 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Short neck, Esophagea... |
OMIM:300514 |
| Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Pancreatitis |
OMIM:248600 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Recurrent pneumonia, Flexion contracture, Elbow flexion contracture, Knee flexion contr... |
OMIM:214150 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Hepat... |
ORPHA:99931 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocy... |
ORPHA:91547 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... |
OMIM:269700 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Spinal rigidity, Hyperlo... |
ORPHA:268 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Microphthalmia, Ocular anterior segment dysg... |
OMIM:615145 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Asthma, Atrial septal defec... |
OMIM:619471 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Iris hypopigmentation, Eczema, Sclerocornea, Corneal opacity, Camptodactyly... |
ORPHA:284160 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Leukocy... |
ORPHA:90060 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, Congenital diaphra... |
ORPHA:2311 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dextrocardia, Dynein arm defect of respiratory motile cilia, Si... |
OMIM:614679 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
| Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Po... |
OMIM:617140 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Moderate albuminuria, Hypovolemia, Abnormal heart morphology, Renal tubular dysfunctio... |
ORPHA:99885 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Distichiasis, Sinus bradycardia |
OMIM:126320 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Foot joint contracture, Facial palsy, Achilles tendon contracture, Aplasia/Hypoplas... |
ORPHA:456312 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:608644 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom... |
ORPHA:99880 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Hyphema, Leukocoria, Uveitis, Buphthalmos, Microcornea... |
OMIM:221900 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, High palate, Gastroesophageal ref... |
OMIM:618443 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Thrombocytosis, Malabsorption, Pulmonary embolism, Iron def... |
OMIM:226300 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon... |
OMIM:557000 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, In... |
ORPHA:465508 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
| Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Thickened aortic valve cusp, Hyperlordosis, Nephrolithiasis, Dermatan sulfa... |
OMIM:619698 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Recurrent pneumonia, Premature osteoarthritis, Flexion contracture, Cleft p... |
OMIM:215150 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, High palate, Ovoid vertebral bodies, Scoliosis |
OMIM:619451 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Horseshoe kidney, Scoliosis, Hyperlordosis |
OMIM:617352 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopath... |
OMIM:232500 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Patent ductus arteriosus, Bradycardia |
OMIM:220120 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom... |
ORPHA:143 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Eczema, Facial myokymia |
OMIM:620007 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Muscular dystrophy, Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy... |
OMIM:615688 |
| Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Pancytopenia, Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Macrogloss... |
ORPHA:309288 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... |
ORPHA:974 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stag... |
OMIM:249100 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... |
ORPHA:281090 |
| Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Renal cyst, Cleft palate, Bile duct proliferation, Atrial septal defect |
OMIM:611134 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Spl... |
OMIM:612852 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... |
OMIM:618801 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Dilated cardio... |
OMIM:230500 |
| Feingold Syndrome |
|
Abnormality of the spleen, Esophageal atresia, Abnormal form of the vertebral bodies, Annular pan... |
ORPHA:1305 |
| Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Malabsorpti... |
ORPHA:77297 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membranoproliferativ... |
OMIM:619525 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosi... |
OMIM:617796 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... |
OMIM:602557 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... |
OMIM:607361 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Platyspondyly, Scoliosis, C1-C2 ... |
OMIM:184250 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased response to growth hormone stim... |
ORPHA:273 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Short neck, Spleno... |
OMIM:613610 |
| Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Decreased response to growth hormone stimulation test, ... |
ORPHA:64 |
| Muckle-Wells Syndrome |
|
Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous stomatitis, Conjunctiva... |
OMIM:191900 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Hepatic fibrosis, Hepatic... |
ORPHA:264580 |
| Diastrophic Dysplasia |
|
Recurrent respiratory infections, Camptodactyly of finger, Kyphosis, Cryptorchidism, Abnormal for... |
ORPHA:628 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor... |
ORPHA:98850 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Mitral ... |
OMIM:619167 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Hyperlordosis, Mitral valve prolapse, Gastroesophageal reflux, High palate, Scoliosis, Atrial sep... |
OMIM:300986 |
| Angiostrongyliasis |
|
Gastrointestinal eosinophilia, Hypereosinophilia |
ORPHA:74 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Chilblains... |
OMIM:615846 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Hyperhidr... |
ORPHA:1329 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Cryptorchidism, Heart murmur, Abnormal heart morphology, Decreased testicular size |
ORPHA:1867 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Irregular v... |
OMIM:226980 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Distal amyotrophy, Hyperlordosis |
OMIM:162370 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Pterygium Of Conjunctiva And Cornea |
|
Abnormal conjunctiva morphology, Pterygium |
OMIM:178000 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease... |
OMIM:619510 |
| Trisomy 13 |
|
Ventricular septal defect, Kyphosis, High, narrow palate, Cryptorchidism, Abnormal lung lobation,... |
ORPHA:3378 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection,... |
ORPHA:79128 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Knee flexion contr... |
OMIM:313420 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Ort... |
ORPHA:75249 |
| Sandestig-Stefanova Syndrome |
|
Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Camptodact... |
OMIM:618804 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Megacystis, Hydronephrosis, U... |
OMIM:155310 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Conjun... |
OMIM:142680 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Hyperlordosis, Abnormality of the ureter, Hypohidrosis, Bilater... |
ORPHA:3253 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Recurrent respiratory i... |
OMIM:614162 |
| Pycnodysostosis |
|
Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal... |
ORPHA:763 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Abnormal me... |
ORPHA:2075 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventri... |
OMIM:263520 |
| Lissencephaly 8 |
|
Microphthalmia, Cataract, Skeletal muscle atrophy |
OMIM:617255 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Kyphosis, Splenomegaly, Leuko... |
ORPHA:1328 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Abn... |
OMIM:314390 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Hand muscle weakness, Congesti... |
ORPHA:98908 |
| Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Sacral dimple, Neonatal respiratory distress, Atrial septal defect, Intes... |
OMIM:605039 |
| Desbuquois Dysplasia 1 |
|
Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Platyspondyly... |
OMIM:251450 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Anhidrosis, Hemolytic anemia, Pneumonia, Splenomegaly, Myopathy, Chronic otitis med... |
ORPHA:169090 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Eyelid coloboma, Anophthalmia, Orbital cyst |
OMIM:164180 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hyperlordosis, Cleft palate, Hepatosplenomegaly, Cholecystitis, Recurrent otitis me... |
OMIM:301066 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Downslanted palpebral fissures, Premature ventricular contraction |
OMIM:192445 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro... |
OMIM:614017 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... |
OMIM:608776 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, Prolonged prothrombin time, High palat... |
OMIM:617941 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... |
OMIM:608594 |
| Cerebrotendinous Xanthomatosis |
|
Angina pectoris, Myocardial infarction, Tendon xanthomatosis, Respiratory insufficiency, Pseudobu... |
OMIM:213700 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Cataract, Recurrent pneumonia, Microcornea, Microphthalmia, Pulmonary arterial hypert... |
OMIM:616449 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Recurrent aspiration pneumonia |
OMIM:619971 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Hartsfield Syndrome |
|
Microphthalmia, Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
| Vitreoretinochoroidopathy |
|
Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhage, Retinal neovascul... |
OMIM:193220 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Patent ductus arteriosus |
OMIM:615297 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Hyperlordosis, Kyphosis, High, narrow palate, Elevate... |
OMIM:162300 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia, Muscular dystrophy |
OMIM:615181 |
| Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Astigmatism, Peters anomaly, Blepharophimosis, Microphthalmia, Iris coloboma, Broad e... |
ORPHA:494344 |
| Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Acne, Secundum atrial septal defect, Cryptorchidism, High, narrow palate, G... |
ORPHA:1439 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Congestive heart failure, Epicanthus, Microcornea |
ORPHA:2505 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy |
OMIM:256550 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... |
ORPHA:261330 |
| Cimdag Syndrome |
|
Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Cerebrotendinous Xanthomatosis |
|
Abnormality of the vertebral spinous processes, Abnormal lung morphology, Tendon xanthomatosis, A... |
ORPHA:909 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, Hyperhidrosis, Periodontitis, Hepatomegaly, Scolio... |
ORPHA:1775 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Oculofaciocardiodental Syndrome |
|
Cataract, Highly arched eyebrow, Ectopia lentis, Patent ductus arteriosus, Flexion contracture of... |
ORPHA:2712 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Infl... |
OMIM:301074 |
| Trichorhinophalangeal Syndrome, Type I |
|
Recurrent respiratory infections, Scapular winging, Hyperlordosis, Osteoarthritis, Narrow palate,... |
OMIM:190350 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Neonatal respiratory distress,... |
OMIM:260400 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hyperlordosis,... |
OMIM:616007 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Autoimmune antibody positivity, Pituitary hypothyroidism, Macroglossia, Bradycardia, Decreased ci... |
ORPHA:90674 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Corneal opacity... |
ORPHA:137675 |
| Joubert Syndrome 14 |
|
Epicanthus, Highly arched eyebrow, Intracranial hemorrhage, Hypertension, Microphthalmia, Downsla... |
OMIM:614424 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistax... |
OMIM:612840 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hemolytic anemia,... |
OMIM:606367 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic lymphatic leu... |
OMIM:616005 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Congenital foot contractures, Limb hypertonia |
ORPHA:565624 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... |
OMIM:127550 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Repeated pneumothoraces, Intestinal malrotation, Ventricular septal defect, Congenit... |
OMIM:617602 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... |
OMIM:620032 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of t... |
OMIM:618914 |
| Chops Syndrome |
|
Ventricular septal defect, Tracheomalacia, Splenomegaly, Cryptorchidism, High, narrow palate, Ano... |
OMIM:616368 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Short neck, Ectopic kidney, High, narrow palate, Renal cyst, Hig... |
OMIM:122470 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Abnormal respiratory system physiology, Scoliosis |
ORPHA:505652 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Flexion contracture, Telangiectasia, Microcornea, Keratoconjunctivitis sicca, Erythrode... |
OMIM:601675 |
| Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Cataract, Flexion contracture, Developmental cataract, Microcornea, Shallo... |
OMIM:614222 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Cryptorchidi... |
OMIM:617052 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Hyperlordosis, Cryptorchidism, High, narrow palate, Recurrent p... |
OMIM:234100 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysem... |
ORPHA:31204 |
| 3M Syndrome |
|
Scapular winging, Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, D... |
ORPHA:2616 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Short neck, High palate, Wrist flexion contracture, Abnormally os... |
ORPHA:800 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture, High palate, Bifid uvula |
OMIM:618658 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
| Vici Syndrome |
|
Lymphopenia, Epicanthus, Cataract, Left ventricular hypertrophy, Congestive heart failure, Decrea... |
OMIM:242840 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adrenal insufficiency, Stea... |
ORPHA:75233 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent oti... |
OMIM:615207 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pericarditis, Proteinuria, Prematur... |
OMIM:212065 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Py... |
ORPHA:93111 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract |
OMIM:251270 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Kyphosis, High, narrow palate, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
| 15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hern... |
ORPHA:94065 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow... |
OMIM:614204 |
| Warburg Micro Syndrome 4 |
|
Decreased muscle mass, Flexion contracture, Developmental cataract, Microcornea, Microphthalmia, ... |
OMIM:615663 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea, Kyphosis, Cryptorchidism, Scoliosis, Hydronephrosis |
OMIM:619797 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Central apnea, Dysuria, Malabsorption, Abnormal mesentery morphology... |
ORPHA:3463 |
| Atelis Syndrome 2 |
|
Epicanthus, Thrombocytopenia, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Developme... |
OMIM:620185 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, 3-Methylglutaconic... |
OMIM:618329 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Biliary tract abnorm... |
OMIM:175200 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Thoracic kyphosis, Scoliosis, Hyperlordosis |
ORPHA:557003 |
| Distal Deletion 12Q |
|
Late onset atopic dermatitis, Unilateral cryptorchidism, Kyphoscoliosis, Short neck, Ectopic kidn... |
ORPHA:96149 |
| Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Short neck, Heparan sulfate... |
OMIM:607014 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Downslanted palpebral fissures, Thrombocytopenia |
OMIM:619981 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary e... |
ORPHA:330012 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent ... |
OMIM:615468 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the l... |
OMIM:619708 |
| Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short neck, Cryptorchidis... |
ORPHA:3376 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck |
ORPHA:1803 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Lumbosacral ... |
OMIM:607330 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Dysph... |
OMIM:128100 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Cataract, Severe B lymphocytopenia, Portal hypertension, Exocrine ... |
OMIM:620005 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Parathyroid adenoma, Pancrea... |
OMIM:145980 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis |
OMIM:271650 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... |
OMIM:618223 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Apnea, Episodic tachypnea, Hyperhidrosis, Abnormal heart morphology, Aspiration pneu... |
ORPHA:79264 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Increased circulating gonadotropin level, Microcornea, Blepha... |
OMIM:110100 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Abnormal... |
ORPHA:70588 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Kyphosis, Thyroiditis, Furrowed tongue, Hydrocele testis, O... |
OMIM:158350 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
| Meckel Syndrome, Type 2 |
|
Renal cyst, Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial palsy, Hyperlordosis, High, narrow palate, Submucous cleft hard palate, Cleft palate, Scol... |
ORPHA:2780 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Flexion contracture, Microcornea, Erythroderma, Micro... |
ORPHA:35173 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia... |
ORPHA:221 |
| Opitz-Kaveggia Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Anal stenosis, Intestinal malrotation, Hypospadias, Short ne... |
OMIM:305450 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Pulmonic stenosis, Right v... |
OMIM:616028 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Respiratory insuffi... |
ORPHA:1545 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Short neck, Renal cyst, Anteriorly placed anus, High palate, Hepatoblastoma... |
ORPHA:798 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
OMIM:614921 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi... |
OMIM:619040 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the... |
OMIM:183900 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hypospadias, Ventricular septal defect, Short neck, Cryptorchidism, Kyphosi... |
ORPHA:254346 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Short neck, A... |
OMIM:249000 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cataract, Eczema, Microcytic anemia |
OMIM:612379 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Skin rash... |
ORPHA:50918 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p... |
OMIM:619488 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, P... |
OMIM:619381 |
| Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Decreased muscle mass, Hyperlordosis, Short neck, Elbow flexion contracture, Clef... |
OMIM:615065 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... |
ORPHA:582 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... |
ORPHA:91495 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Narrow palpebral fissure, Limb hypertonia, Developmental cataract |
OMIM:614219 |
| Aceruloplasminemia |
|
Refractory anemia, Torticollis, Congestive heart failure, Abnormal pancreas morphology, Hypochrom... |
ORPHA:48818 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Proteinur... |
ORPHA:1018 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
| Immunodeficiency 58 |
|
Recurrent respiratory infections, Helicobacter pylori infection, Recurrent cutaneous abscess form... |
OMIM:618131 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Sacral dimple, Thoracolumbar scoliosis, Cyst of the ductus choledochus, Abn... |
ORPHA:480880 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Epicanthus, Cataract, Downslanted palpebral fissures |
OMIM:614105 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Urinary incontinence, Kyphosis, Infertility, Scoliosis, Limb muscle weakness, Lower limb muscle w... |
OMIM:614409 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Hematochezia, Subconj... |
OMIM:617718 |
| Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion c... |
OMIM:619503 |
| Joubert Syndrome 6 |
|
Breathing dysregulation, Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosi... |
OMIM:610688 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Lymphopenia, Scapular winging, Short neck, Cryptorchidism, Kyphosis, High, ... |
OMIM:619745 |
| Mgat2-Cdg |
|
Respiratory distress, Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutin... |
ORPHA:79329 |
| Fanconi Anemia, Complementation Group S |
|
Epicanthus, Upslanted palpebral fissure, Long eyelashes, Blepharophimosis, Microphthalmia, Anemia |
OMIM:617883 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
| Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Macroglossia, Platy... |
OMIM:607095 |
| Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Scapular winging, Lumbar hyperlordosis, Short neck, Cryptorchidism, High pa... |
OMIM:609625 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Amenorrhea, Hyperlordosis |
ORPHA:3130 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Respiratory tract... |
ORPHA:308552 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
| Glycogen Storage Disease Ii |
|
Recurrent respiratory infections, Hepatomegaly, Increased circulating NT-proBNP concentration, El... |
OMIM:232300 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Cleft palate, Abdominal situs inve... |
OMIM:619123 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis, Scoli... |
ORPHA:568 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Recurrent otitis media, Sparse ... |
OMIM:261990 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Cyst of the ductus choledochus, Unilateral facial palsy, Gastroesophageal reflux, Sc... |
OMIM:619480 |
| Trisomy 10P |
|
Absent gallbladder, Decreased muscle mass, Hemivertebrae, Abnormal heart morphology, High palate,... |
ORPHA:171929 |
| Immunodeficiency 19 |
|
Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce... |
OMIM:615617 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Osteoarthritis, Cleft palate, Co... |
ORPHA:1427 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Blepharophimosis, Heart murmur, Recurrent otitis media, Microphthalmia, Ptosis |
ORPHA:2728 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Hyperlordosis, Narrow palate, Vertebral segmentation defect, Scoliosis |
ORPHA:1323 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Patent ductus arteriosus, Knee flexion contracture, Pulmonic... |
ORPHA:435638 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, ... |
OMIM:615877 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Muscular dystrophy |
OMIM:614830 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Pure Mitochondrial Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... |
ORPHA:254854 |
| Noonan Syndrome 7 |
|
Atrial septal defect, Short neck, Hyperhidrosis, Scoliosis, Dysphagia, Impaired oropharyngeal swa... |
OMIM:613706 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Neonatal respiratory distress, Lumbar hyperlordosis, Cryptorchidism, High palate, Joint contracture |
OMIM:602471 |
| Rhizomelic Syndrome, Urbach Type |
|
Acne, Short neck, Kyphosis, Cleft palate, Abnormal form of the vertebral bodies, High palate, Pul... |
ORPHA:3098 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Angina pectoris, Tendon xanthomatosis, Gout,... |
ORPHA:412 |
| Distal Triplication 15Q |
|
Kyphosis, Flexion contracture, Horseshoe kidney, Abnormal heart morphology, Hydrocele testis, Hig... |
ORPHA:314588 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Tongue atrophy, Respiratory failure requi... |
OMIM:211530 |
| Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Reduced forced expiratory volume in one second, Kyphosis, Restrictive vent... |
OMIM:108145 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Nasolacrimal duct obstruction, Developmental cataract, Mi... |
OMIM:612109 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... |
OMIM:216360 |
| Cat Eye Syndrome |
|
Atrial septal defect, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fi... |
OMIM:115470 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Limb-girdle muscular dystrophy, Scoli... |
OMIM:615356 |
| Kawasaki Disease |
|
Pericarditis, Proteinuria, Skin rash, Abnormal heart valve morphology, Recurrent pharyngitis, Jau... |
ORPHA:2331 |
| Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Microphthalmia, Downslanted palpebral fissures, Peters anomaly |
OMIM:614526 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, High palate |
OMIM:612921 |
| Alexander Disease |
|
Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Respiratory insufficienc... |
ORPHA:58 |
| Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Hypertension, Renal corti... |
OMIM:613159 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Oliguria, Central hypothyroidism, Lymphocytosis, Hypochro... |
ORPHA:514 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ... |
ORPHA:2968 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608836 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Th... |
ORPHA:2232 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Recurre... |
OMIM:300472 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Platyspondyly, Pulmona... |
ORPHA:2655 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Respiratory insufficiency, High p... |
ORPHA:2135 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Developmental cataract... |
OMIM:171300 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Supernumerary nipple, Unilateral renal agenesis, Secundum atrial septal ... |
OMIM:619951 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Reticu... |
OMIM:618278 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| H Syndrome |
|
Psoriasiform dermatitis, Malabsorption, Microcytic anemia, Recurrent pharyngitis, Abnormal cardio... |
ORPHA:168569 |
| Dubowitz Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Aplastic anemia, Eczema, Hypoplasia of the iris, Acute lymphobla... |
OMIM:223370 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:234050 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Hypospadias, Ventricular septal defect, Cryptorchidism, Renal cyst, Furrowe... |
OMIM:616975 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Pulmonary cyst, Enlarged kidney |
OMIM:618272 |
| Mcdonough Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Cryptorchidism |
ORPHA:2471 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Premature osteoart... |
OMIM:130060 |
| Steinfeld Syndrome |
|
Absent gallbladder, Abnormal heart morphology, Abnormality of the vertebral column, Abnormal vert... |
OMIM:184705 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory i... |
OMIM:618886 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation... |
ORPHA:261250 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Facial p... |
OMIM:615873 |
| Distal Deletion 10Q |
|
Atrial septal defect, Scapular winging, Lumbar hyperlordosis, Functional abnormality of the bladd... |
ORPHA:96148 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Splenomegaly, Primary adrenal... |
OMIM:261515 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma |
OMIM:613456 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Microphthalmia |
OMIM:617306 |
| Schaaf-Yang Syndrome |
|
Kyphosis, Cryptorchidism, Flexion contracture, Gastroesophageal reflux, Hypogonadism, Scoliosis, ... |
OMIM:615547 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Congenital muscular torticollis, Truncus arteriosus, ... |
ORPHA:2538 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Ventricular septal defect, Cardiomegaly, Pleural effusion, Pulmonary hypoplasia, Hype... |
OMIM:616897 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Hype... |
ORPHA:349 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Platyspondyly, Atrial septa... |
ORPHA:93274 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ventricular septal defect, Flexion contracture, Abnormal medullary... |
ORPHA:79243 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Congenital hypothyroidism, Platyspon... |
OMIM:271510 |
| Meckel Syndrome, Type 5 |
|
Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:611561 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Kyphosis... |
OMIM:615381 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
OMIM:615524 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:139471 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Microphthalmia, ... |
ORPHA:2791 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter... |
ORPHA:116 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Elbow contracture, Asthma, Knee flexion contracture, High palate, Atri... |
OMIM:618162 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, K... |
ORPHA:392 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Cleft palate, Atrial ... |
OMIM:300712 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... |
OMIM:239850 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Ureteral duplication, Hypospadias, Bicuspid aortic valve, Kyphosis, Cryptorchid... |
ORPHA:96169 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Long palpebral fissure, Microphthalmia, Epicanthus, Cataract |
ORPHA:163649 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Cryptorchidism, High palate, Micropenis, Decreased testicular size |
OMIM:615433 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Cataract, Camptodactyly of finger, Developmental cataract |
OMIM:610756 |
| Achondroplasia |
|
Respiratory distress, Lumbar hyperlordosis, Upper airway obstruction, Lumbar kyphosis in infancy,... |
OMIM:100800 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Bilateral microphthalmos, Upslanted palpebral fissure, Macroglossia, Arthrogryposis-l... |
ORPHA:369891 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,... |
OMIM:171420 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2788 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Hypospadias, Kyphosis, Cryptorchidism, Macroglossia, Hypogonadism, ... |
OMIM:300354 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
| Farber Disease |
|
Skeletal muscle atrophy, Corneal opacity, Thrombocytopenia, Flexion contracture, Hepatosplenomega... |
ORPHA:333 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Neutr... |
OMIM:609053 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Kyphosis, Cryptorchidism, Cleft palate, Abnorm... |
ORPHA:404440 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
| Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoxemia, Absent gallbladder, High palate, Pancreatic aplasia |
ORPHA:556955 |
| Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy, Hyperlordosis |
ORPHA:269 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Cleft palate, Scoliosis |
ORPHA:85317 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Cataract, Bradycardia, Neutropenia |
OMIM:617248 |
| 3Mc Syndrome |
|
Diastasis recti, Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Prominent coccyx,... |
ORPHA:293843 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
| Sarcoidosis, Susceptibility To, 1 |
|
Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland morpholog... |
OMIM:181000 |
| Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Restrictive ventilatory defect,... |
ORPHA:15 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Atrial septal defect, Bicuspid aortic valve, Eczema, Ventricular... |
OMIM:610443 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Microcornea, Persistent pupillary membrane, ... |
OMIM:257850 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, A... |
ORPHA:141099 |
| Frontorhiny |
|
Epicanthus, Cataract, Camptodactyly of finger, Microphthalmia, Hypopituitarism, Iris coloboma, Pt... |
ORPHA:391474 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Kyphosis, Thyroiditis, Furrowed tongue, Hydrocele testis, O... |
OMIM:615108 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Flexion contracture, Atrioventricular block, Abnormal form of the vertebral bodies,... |
ORPHA:581 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Microcytic ... |
ORPHA:324737 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Atrial septal defect, Lumbar hyperlordosis, Unilateral lung agenesis, Transie... |
ORPHA:500150 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract |
OMIM:613730 |
| Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Hyperhidrosis, Hypertension, Hypotension, Mydriasis |
ORPHA:43116 |
| Orofaciodigital Syndrome Viii |
|
High palate, Recurrent aspiration pneumonia, Cleft palate |
OMIM:300484 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Pneumonia, Dilated cardiomyopathy, Renal tubular epithelial necrosis, ... |
ORPHA:79404 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Cataract, Narrow palpebral fissure, Astigmatism, Horizontal eyebrow, Microphthalmia |
OMIM:618571 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Camptodactyly of toe, Aniridia, Microphthalmia, Downslanted palpebral fis... |
ORPHA:251038 |
| Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Decreased muscle mass, Contrac... |
ORPHA:2614 |
| Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Uveitis, Microcornea, Joint contracture of the 5th finger, Blepharophimosis... |
OMIM:164200 |
| Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Anophthalmia, Cor... |
ORPHA:899 |
| Microphthalmia, Isolated 8 |
|
Anophthalmia, Entropion, Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Short palpebr... |
OMIM:615113 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Pulmonary hypoplasi... |
OMIM:620306 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Joint contracture of the 5th ... |
OMIM:620098 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Camptodactyly, Microphthalmia, Downslanted palpebral fissures... |
OMIM:614230 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Urinary glycosamin... |
ORPHA:79255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Flexion contracture, Muscular dystrophy, Microphthalmia |
OMIM:615249 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endot... |
ORPHA:209959 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Thorac... |
OMIM:602535 |
| Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Narrow palpebral ... |
OMIM:618175 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Rhabdomyosarcoma, Acute lymphoblasti... |
ORPHA:1052 |
| Postinfectious Vasculitis |
|
Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocarditis, Recurr... |
ORPHA:48435 |
| 3Q29 Microdeletion Syndrome |
|
Cataract, Patent ductus arteriosus, Pulmonary arterial hypertension, Microphthalmia, Downslanted ... |
ORPHA:65286 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Acne, Kyphosis, Vacuolate... |
OMIM:208400 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
| Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal heart morphology, M... |
ORPHA:363700 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Kyphosis... |
ORPHA:812 |
| Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Tricuspid stenosis, Ventricular septal defect, Asplenia, Esoph... |
OMIM:164280 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lumbar hyperlordosis, Ventricular septal defect, Short neck, Cryptorchidism, Cleft palate, High p... |
ORPHA:251028 |
| Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Incre... |
OMIM:215600 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Tachycardia, Hyperthyroidism, Palpitations |
OMIM:188580 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Cataract, Vitreous hemorrhage, Retinal neovascularization, Microphthalmia |
ORPHA:891 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Three M Syndrome 3 |
|
Increased vertebral height, Hyperlordosis, Short neck |
OMIM:614205 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Cough, Splenomegaly, Thrombocytopenia, Stridor, Gastroesophageal reflux, Dys... |
OMIM:230900 |
| Oculoauriculofrontonasal Syndrome |
|
Limbal dermoid, Upper eyelid coloboma |
ORPHA:398156 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Respiratory insufficiency, Ga... |
OMIM:619909 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Kyphosis, Thyroiditis, Furrowed tongue, Hydrocele testis, O... |
OMIM:615109 |
| Amoebic Keratitis |
|
Anterior uveitis, Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Irregular vertebral endplates, High palate, Lumbar hyperlordosis... |
OMIM:143095 |
| Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis... |
ORPHA:454831 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Ventricular septal defect, Kyphoscoliosis, Protruding tongue, Kyphosis, Cryptorchidi... |
OMIM:301040 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Seborrheic dermatitis, Splenomegal... |
OMIM:301072 |
| Mucolipidosis Type Ii |
|
Knee flexion contracture, Otitis media, Patent foramen ovale, Telangiectases of the cheeks, Hepat... |
ORPHA:576 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Abnormality o... |
ORPHA:3409 |
| Moebius Syndrome |
|
Epicanthus, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly, Microphth... |
OMIM:157900 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Abnormal form of the vertebra... |
ORPHA:73230 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Autoimmunity, Congestive heart failure, Splenomegaly, S... |
ORPHA:90033 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Upslanted palpebral fissure, Microcornea, Blepharophimosis, Microphthalmia, Short pal... |
OMIM:156610 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Hyperhidrosis, Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... |
OMIM:229400 |
| Pierson Syndrome |
|
Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uv... |
OMIM:609049 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Hypertension, Recurrent corneal ero... |
OMIM:223900 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma |
ORPHA:231736 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Aciduria, Mi... |
OMIM:203700 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Enlarged polycystic ovaries, Osteoarthritis,... |
ORPHA:2298 |
| Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Epicanthus, Multiple joint contractures, Eczema, Bilateral m... |
ORPHA:33364 |
| Roifman-Chitayat Syndrome |
|
Arthritis, Ectopic kidney, Pneumonia, Short neck |
OMIM:613328 |
| Seckel Syndrome 2 |
|
Microphthalmia, Heart murmur |
OMIM:606744 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Bifid uvula, Scoliosis |
OMIM:617768 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory i... |
OMIM:618291 |
| Trichorhinophalangeal Syndrome Type 1 |
|
High palate, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:77258 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology... |
ORPHA:141127 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Kyphosis, Cryptorchidism, Flexion contracture, Xerostomia, Prim... |
ORPHA:398069 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Short... |
OMIM:616894 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Cystic Fibrosis |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Meco... |
ORPHA:586 |
| Papillorenal Syndrome |
|
Cataract, Lens luxation, Orbital cyst, Hypertension, Microphthalmia |
OMIM:120330 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Kyphosis, Bladder diverticulum, Scoliosis, Bruising susceptibility |
OMIM:617821 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Rectal absces... |
OMIM:601495 |
| Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:363741 |
| Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:226307 |
| 15Q14 Microdeletion Syndrome |
|
Acne, Ventricular septal defect, Kyphosis, Cleft palate, Scoliosis, Atrial septal defect |
ORPHA:261190 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract |
OMIM:601794 |
| Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiva morphology, Limb... |
ORPHA:3339 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Osteoarthritis, Platyspondyly... |
OMIM:177170 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:212550 |
| Frank-Ter Haar Syndrome |
|
Acne, Camptodactyly of finger, Kyphosis, Mitral valve prolapse, Scoliosis, Beaking of vertebral b... |
ORPHA:137834 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Inflammatory abnormality of the eye, Scoliosis |
ORPHA:816 |
| Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia |
OMIM:613001 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... |
ORPHA:199241 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Peters a... |
OMIM:309801 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation... |
OMIM:606721 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Scoliosis |
ORPHA:2114 |
| Saethre-Chotzen Syndrome |
|
Hyperlordosis, Cryptorchidism, Narrow palate, Abnormal form of the vertebral bodies, Cleft palate... |
ORPHA:794 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Neurofibroma |
|
Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Multiple intestinal neurofib... |
ORPHA:252183 |
| Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Vertebral segmentation defect, High palate, Atrial septal defect... |
ORPHA:2745 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Skeletal muscle hypertrophy, Hypertension, ... |
OMIM:151660 |
| Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Biceps apl... |
OMIM:161200 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, Bilateral... |
OMIM:619234 |
| Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Microphthalmia, Ptosis |
ORPHA:1915 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron... |
ORPHA:980 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Exaggerated median tongue furrow, Scoliosis |
OMIM:300602 |
| Pfeiffer Syndrome |
|
Hyperlordosis, High palate, Short neck |
ORPHA:710 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
| Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Patent ductus arteriosus, Microcornea, Eyelid coloboma, As... |
OMIM:600268 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Scapular winging, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the... |
OMIM:272460 |
| 2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Multicystic kidney dysplasia, Facial pals... |
ORPHA:261349 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... |
OMIM:618138 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Kyphosis, Functional abnormality of the gastrointestin... |
ORPHA:3095 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos |
ORPHA:2717 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivert... |
ORPHA:958 |
| Von Hippel-Lindau Disease |
|
Back pain, Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell ... |
ORPHA:892 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Flexion contracture, Low... |
OMIM:263650 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Narrow palpebral fissure, Bradycardia, Pulmonary insufficiency, ... |
OMIM:614437 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Increased variability in muscle fiber diameter, Buphthalmos, Skeletal muscle hypertroph... |
OMIM:613150 |
| Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... |
ORPHA:97339 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Recurrent respiratory infections, Sacral dimple, Cleft soft palate, Short neck, Hyperlordosis, Hi... |
OMIM:619950 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Bronchiectasis, Abnor... |
ORPHA:99921 |
| Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Upslanted palpebral fissure, Blephar... |
OMIM:613451 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Intestinal malrotation |
ORPHA:77300 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Hig... |
ORPHA:314655 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Myocardial infarct... |
ORPHA:90068 |
| Hyperthyroidism, Familial Gestational |
|
Increased circulating T4 concentration, Tachycardia, Hyperthyroidism |
OMIM:603373 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Distal amyotrophy, Lumbar hyperlordosis, Limb muscle weakness, Scoliosis |
OMIM:601152 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Hematuria, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramu... |
ORPHA:79 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:615834 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Pulmonary fibrosis, Bone m... |
OMIM:224230 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
| Cockayne Syndrome Type 2 |
|
Hepatomegaly, Cryptorchidism, Kyphosis, Flexion contracture, Uveitis, Conjunctivitis, Scoliosis, ... |
ORPHA:90322 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhag... |
ORPHA:420741 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Epicanthus, Sinusitis, Autoimmune hemolytic anemia, Dysgammaglobulin... |
OMIM:251260 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Upper limb hypertonia |
ORPHA:319199 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis, Tongue atrophy |
OMIM:141300 |
| Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Aspiration pneumonia,... |
ORPHA:99772 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Downslanted palpebral fissures |
ORPHA:1438 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Baralle-Macken Syndrome |
|
Kyphosis, Urinary incontinence, High, narrow palate |
OMIM:619255 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Un... |
ORPHA:464306 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Pancreatic cysts, Abno... |
ORPHA:1318 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Abnormal eyelash morphology, Camptodactyly of 2nd-5th fingers, Blepharophimosis, Mi... |
OMIM:206920 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
| Holoprosencephaly |
|
Epicanthus, Anophthalmia, Highly arched eyebrow, Congenital diaphragmatic hernia, Abnormality of ... |
ORPHA:2162 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Hypertension, Ph... |
OMIM:193300 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... |
OMIM:618397 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Cataract, Dilated cardiomyopathy, Flexion contracture, Calf muscle hyper... |
OMIM:253800 |
| Hallermann-Streiff Syndrome |
|
Telecanthus, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Uveitis, Developmental c... |
ORPHA:2108 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3218 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Myopathy, Peters a... |
OMIM:243605 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Sclerocornea, Patent ductus arteriosus, Microphthalmia, Iris coloboma |
ORPHA:77298 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal... |
ORPHA:89842 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... |
OMIM:270100 |
| Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Sacral dimple, Atrial septal defect, Hypospadias, Abnormal hear... |
ORPHA:280 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber, Retinal neovascularization |
OMIM:305390 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Telangi... |
OMIM:268400 |
| Galloway-Mowat Syndrome 3 |
|
Epicanthus, Hypertension, Camptodactyly, Microphthalmia, Downslanted palpebral fissures |
OMIM:617729 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Joint contracture of the hand, Downslanted palpebral fissures, Camptodactyly |
OMIM:611961 |
| Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hemolytic anemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hemolytic anemia |
ORPHA:529799 |
| Stickler Syndrome, Type I |
|
Kyphosis, Osteoarthritis, Submucous cleft hard palate, Cleft palate, Mitral valve prolapse, Arthr... |
OMIM:108300 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne... |
OMIM:614377 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Increased variability in muscle fiber diameter, Buphthalmos, Muscular dystrophy, Microp... |
OMIM:616538 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Narrow palate, Mitral reg... |
OMIM:277600 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology |
ORPHA:174 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytopenia, Decrease... |
ORPHA:293978 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Hyperhidrosis, Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Abnormality of the orbital region, Hypertension, Arthritis, Pterygium, Ir... |
ORPHA:371428 |
| Truncus Arteriosus |
|
Atrial septal defect, Ventricular septal defect, Anomalous origin of one pulmonary artery from as... |
ORPHA:3384 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Decreased glomerular filtration rate, Pancreatic c... |
ORPHA:730 |
| Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Cleft palate, Abnorma... |
ORPHA:2839 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Skeletal muscle atrophy, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Dysp... |
OMIM:617143 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Abnormal urine alpha-ketoglutarate concentration |
ORPHA:31 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Narrow palate, High palate, Ankyloglossia |
OMIM:616078 |
| Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Corneal opacity, Congenital diaphragmatic hernia, Ectopia lentis, Dia... |
ORPHA:2092 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Recurrent otitis media, Microphthalmia, Epicanthus |
OMIM:618494 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Erythroderma, Microphthalmia, Downslanted palpebral f... |
OMIM:302960 |
| Stiff Person Spectrum Disorder |
|
Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis, Dysphagia |
OMIM:617435 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Facial hypotonia, Kyphosis, Cryptorchidism, Narrow palate, Scoliosis, Micropenis, Abnormality of ... |
ORPHA:364028 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Congenital hypothyroidism, Macroglossia, Bradycardia, Decreased circulating T4 concentration, Hyp... |
OMIM:218700 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Nephrolithiasis, Hypertension, Oligomenorrh... |
OMIM:219090 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Cataract, Multiple joint contractures, Supraventricular arrhythmia, Microcytic anemia, Band kerat... |
ORPHA:2959 |
| Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Urinary incontinence, Facial palsy, Short neck, Kyphosis, Achilles tendon contra... |
OMIM:301041 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Aplasia/Hypoplasia of ... |
ORPHA:1860 |
| Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepa... |
OMIM:277900 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Gastroesophageal reflux, Otiti... |
ORPHA:353281 |
| Cohen Syndrome |
|
Abnormal eyelid morphology, Abnormal eyelash morphology, Long eyelashes, Neutropenia, Microphthal... |
ORPHA:193 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Osteopenia,... |
ORPHA:14 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Pancytopenia, Facial hypotonia, Pneumonia, Short neck, Hepatosplenomegaly, ... |
ORPHA:309282 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Ectopia pupillae, Astigmatism, Microphthalmia, Unilateral narrow palpebral fissure |
OMIM:618727 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Anemia, Conjunctiv... |
OMIM:226600 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys |
ORPHA:261272 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
| Bresek Syndrome |
|
Microphthalmia, Iris coloboma, Optic nerve hypoplasia |
ORPHA:85284 |
| Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplasi... |
ORPHA:1507 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Decreased muscle mass, Bicuspid aortic valve, Ventricular s... |
OMIM:130720 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Severe periodontitis, Protruding tongue, Keratitis, Microcytic anemia... |
ORPHA:99843 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Centrally nucleated skeletal muscle fibe... |
OMIM:248800 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplasia of the fove... |
OMIM:619539 |
| Leptospirosis |
|
Pericarditis, Skin rash, First degree atrioventricular block, Conjunctival hyperemia, Rhabdomyoly... |
ORPHA:509 |
| Phace Association |
|
Optic nerve hypoplasia, Patent ductus arteriosus, Horner syndrome, Congenital hypothyroidism, Dev... |
OMIM:606519 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Kyphosis, Scoliosis |
ORPHA:99014 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Upslanted palpebral fissure, Microphthalmia, Telecanthus |
ORPHA:228390 |
| Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Kyp... |
ORPHA:394 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Desbuquois Dysplasia 2 |
|
Neonatal respiratory distress, Lumbar hyperlordosis, Short neck, Cleft palate, Platyspondyly, Bif... |
OMIM:615777 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Warburg Micro Syndrome 2 |
|
Cataract, Flexion contracture, Developmental cataract, Microcornea, Microphthalmia |
OMIM:614225 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Asplenia, Patent ductus arteriosus, Upslanted palpebral... |
ORPHA:99776 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Cataract, Splenomegaly, Flexion contracture, Subdural hemorrhage, Retina... |
ORPHA:90324 |
| Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
| Miller-Dieker Lissencephaly Syndrome |
|
Sacral dimple, Cryptorchidism, Cleft palate, Abnormal heart morphology, Joint contracture of the ... |
OMIM:247200 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Hydroureter, Short neck, Patent foramen oval... |
ORPHA:280633 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos |
OMIM:248450 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Facial palsy, Pustule, Granulo... |
ORPHA:68 |
| Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Cryptorchidism |
OMIM:180870 |
| Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Abnormality of the musculature of the lower limbs, Urinary incontinence, Scoliosis |
ORPHA:464282 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Neonatal respiratory distress, Decreased hemoglobin concentration, Decreased heart ... |
OMIM:619005 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Small intestinal dysmotility, Urinary incontinence, Apnea, Kyphosis, Dysphagia, ... |
OMIM:619482 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Patent ductus arteriosus, Camptodactyly of finger |
ORPHA:2547 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:363705 |
| Coffin-Siris Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Cryptorchidism, Recurrent upper res... |
ORPHA:1465 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Epicanthus, Patent ductus arteriosus, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Le... |
OMIM:619148 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
| Kabuki Syndrome 1 |
|
High palate, Atrial septal defect, Micropenis, Abnormal vertebral morphology, Recurrent aspiratio... |
OMIM:147920 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Decreased circulating IgG level, Lymphopenia, Sinusitis, Bronchiecta... |
OMIM:208900 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Hypospadias, Intestinal malrotation, Mitral steno... |
ORPHA:955 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Bilateral microphthalmos, Elbow flexion contracture, Knee flexion contra... |
OMIM:610758 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi... |
ORPHA:564 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co... |
OMIM:603387 |
| Becker Nevus Syndrome |
|
Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle muscle atrophy |
ORPHA:64755 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity |
OMIM:615190 |
| Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Ventricular septal defect, Congestive heart failure, Elbow flexion contract... |
OMIM:608328 |
| Cockayne Syndrome |
|
Anhidrosis, Skeletal muscle atrophy, Cataract, Band keratopathy, Splenomegaly, Retinal hemorrhage... |
ORPHA:191 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Kyphosis, High, narrow palate, Scoliosis |
ORPHA:2181 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia |
OMIM:610125 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointest... |
ORPHA:95455 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Cataract, Abnormal eyelid morp... |
ORPHA:2526 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormal lung lobation, Abnorma... |
ORPHA:818 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Cardiomegaly |
OMIM:613320 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... |
ORPHA:3427 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Bronchospasm, Short neck |
OMIM:612813 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
| Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Chronic kidney disease, Hypertension, Gastric ulcer, Dysplasia of second l... |
OMIM:208060 |
| Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck |
OMIM:615222 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Hypertension, Increased circulating corti... |
OMIM:219080 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture, Skeletal muscle f... |
OMIM:616263 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Lumbar hyperlordosis, Progressive flexion contractures, Gastroesophageal reflux, S... |
ORPHA:522077 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Lower limb hypertonia, Upper limb hypertonia |
OMIM:614898 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal... |
ORPHA:2461 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Upslanted palpebral fissure, Microphthalmia, Ocular albinism, Blepharophimosis |
ORPHA:1352 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Downslante... |
ORPHA:2969 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Abnormal nasolacrimal system morphology, Anophthalmia, Sclerocornea, Abn... |
ORPHA:2556 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Sparse eyebrow, Upslanted palpebral fissure, Microphthalmia, Dow... |
OMIM:612530 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Ventricular septal defect, Kyphosis, High palate, Scoliosis, Dysphagia, Atrial ... |
OMIM:617061 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Bicuspid aortic valve, Gastroesophageal reflux, Aspiration pneumonia, Atrial septal defect... |
ORPHA:438213 |
| Kapur-Toriello Syndrome |
|
Cataract, Camptodactyly of finger, Patent ductus arteriosus, Microphthalmia, Joint contracture of... |
OMIM:244300 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Short neck, D... |
OMIM:261540 |
| Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
| Dyskeratosis Congenita, X-Linked |
|
Hyperhidrosis, Leukopenia, Conjunctivitis, Hypospadias, Cryptorchidism, Restrictive ventilatory d... |
OMIM:305000 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Tracheomalacia, Ventricular s... |
ORPHA:444077 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Abnormal respiratory system physiology, Short neck |
ORPHA:171866 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Flexion contracture of finger, Hypospadias, Ventricular septal defect, Unil... |
ORPHA:464311 |
| Duane-Radial Ray Syndrome |
|
Epicanthus, Cataract, Optic disc hypoplasia, Facial palsy, Small thenar eminence, Pectoralis hypo... |
OMIM:607323 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... |
OMIM:300942 |
| Cockayne Syndrome B |
|
Anhidrosis, Splenomegaly, Developmental cataract, Hypoplasia of the iris, Hypertension, Microcorn... |
OMIM:133540 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Eyelid coloboma, Bilateral microphthalmos, Optic nerve hypoplasia, Telecanthus |
OMIM:607597 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Vasculitis in the skin, Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, High palate, Scoliosis |
OMIM:300676 |
| Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypoventilation, Decreased muscle mass, Hypogonadotropic hypogo... |
OMIM:176270 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed anus, Bone ma... |
OMIM:615272 |
| Pelizaeus-Merzbacher Disease |
|
Kyphosis, Respiratory insufficiency, Recurrent respiratory infections, Scoliosis |
ORPHA:702 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Anophthalmia, Patent ductus art... |
OMIM:300166 |
| Trisomy 18 |
|
Epicanthus, Cataract, Camptodactyly of finger, Congenital diaphragmatic hernia, Microcornea, Webb... |
ORPHA:3380 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
| Trisomy 20P |
|
Hypospadias, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Abnormality of the ur... |
ORPHA:261318 |
| 17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Cryptorchidism,... |
ORPHA:261265 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Chronic pancreatitis, Cryptorchidism, Myopathy, Adrenal insufficiency... |
OMIM:307030 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
| Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Short neck, Urogenital sinus anomaly, High palate, Pr... |
ORPHA:96176 |
| Myhre Syndrome |
|
Cataract, Patent ductus arteriosus, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, ... |
OMIM:139210 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia, Dysphagia |
ORPHA:216866 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Esophageal varix, Stage 5 chronic kidney... |
OMIM:243910 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Short palpebral fissure |
ORPHA:364577 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck |
ORPHA:3082 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Congenital b... |
ORPHA:1692 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... |
OMIM:615607 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Corneal stromal edema, Thin skin, Shallow orbits, Microphthalmia, Joint contract... |
OMIM:601812 |
| Cousin Syndrome |
|
Microcornea, Narrow palpebral fissure, Camptodactyly, Blepharophimosis, Microphthalmia, Joint con... |
OMIM:260660 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly |
OMIM:120200 |
| Plague |
|
Chapped lip, Tachycardia, Skin rash, Mydriasis, Hematemesis, Lymphadenitis, Erythema nodosum, Spl... |
ORPHA:707 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, High palate, Scoliosis |
ORPHA:2115 |
| Weismann-Netter Syndrome |
|
Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Vertebral segmentation defect, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Cryptorchidism, Asthma, Flexion contracture, Gastroesophageal reflux, Hypogonadism, Sco... |
ORPHA:500055 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia, Hyperthyroidism, Increased circulating free T3, Anti-thyroid peroxidase antibody pos... |
OMIM:609152 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, High, narrow palate,... |
OMIM:177850 |
| Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Camptodactyly,... |
OMIM:251300 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Camptodactyly of finger, Short neck, Kyphosis, Hyperhidrosis, High palate, H... |
ORPHA:85293 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Recurrent respiratory infections, Ureteral duplication, Cholangitis, Short neck, Pa... |
OMIM:266920 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failu... |
ORPHA:70591 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:3301 |
| Flynn-Aird Syndrome |
|
Kyphosis, Primary adrenal insufficiency, Scoliosis, Skeletal muscle atrophy |
ORPHA:2047 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Kyphoscoliosis, Cleft palate, Knee flexion contracture, Annular pancreas, Ankylo... |
ORPHA:488642 |
| Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Recurrent pneumonia, Hyperconvex vertebral bod... |
ORPHA:93357 |
| Poland Syndrome |
|
Atrial septal defect, Hypospadias, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Kyp... |
ORPHA:2911 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Premature osteoarthritis, Elbow flexion contracture, Abnormal curvature... |
ORPHA:93360 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... |
ORPHA:79330 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Epicanthus, Cataract, Abnormal eyelid morphology, Alm... |
ORPHA:84 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Limb hypertonia, Dysphagia |
ORPHA:500180 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Anemia, Hypertension, Arrhythmia, Adren... |
ORPHA:139411 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... |
ORPHA:93924 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Entropion, Telangiectasia of the skin, Cataract, Keratitis, Ankylobl... |
ORPHA:910 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Small cervical vertebral bodies, Recurrent respiratory infections,... |
ORPHA:397715 |
| Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Telecanthus, Small hypothenar eminence, Torticollis, Symblepharon, Small thenar eminence, Webbed ... |
OMIM:611929 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, Arthritis... |
OMIM:260920 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Pectoral muscle ... |
ORPHA:306542 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia |
OMIM:615085 |
| Teebi-Shaltout Syndrome |
|
Telecanthus, Highly arched eyebrow, Camptodactyly, Microphthalmia, Aortic valve stenosis, Ptosis |
OMIM:272950 |
| Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Long eyebrows, Long eyelashes, S-shaped palpebral fissures, Microphthalmia, Ptosis |
OMIM:201180 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Kyphosis, Gastroesophageal reflux,... |
OMIM:312750 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Unilateral ptosis, Optic nerve hypoplasia, Facial palsy, Almond-shaped palp... |
ORPHA:508498 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis,... |
OMIM:609008 |
| Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Thoracic kyphoscoliosis, Recurrent respiratory infections, Lumbar hyperlord... |
OMIM:618371 |
| Ruvalcaba Syndrome |
|
Kyphosis, Cryptorchidism, Hematuria, Scoliosis, Abnormal vertebral epiphysis morphology |
ORPHA:3121 |
| Fanconi Anemia, Complementation Group C |
|
Epicanthus, Pancytopenia, Thrombocytopenia, Flexion contracture, Reticulocytopenia, Neutropenia, ... |
OMIM:227645 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Epicanthus, Aplasia of the thymus, Facial palsy, Sparse eyebrow, Congenital hypothyroidism, Lacri... |
OMIM:620186 |
| 2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Camptodactyly of finger, Synophrys, Microphthalmia, Downslanted palpebral fissures, I... |
ORPHA:251014 |
| Trichinellosis |
|
Skin rash, Facial palsy, Increased circulating IgE level, Retinal hemorrhage, Anisocoria, Conjunc... |
ORPHA:863 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmen... |
OMIM:175780 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Ple... |
ORPHA:1677 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... |
ORPHA:1724 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Hepatic failure |
OMIM:608013 |
| Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Bilateral microphthalmos... |
OMIM:601186 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Neurogenic bladder, Hypospadias, Ur... |
ORPHA:573278 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Nephronophthisis, In... |
OMIM:616307 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Macroorchidism |
ORPHA:90790 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Camptodactyly of finger, Dyspnea, Kypho... |
ORPHA:2215 |
| Bruck Syndrome |
|
Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:2771 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Scoli... |
OMIM:618493 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux... |
ORPHA:534 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Patent ductus arteriosus, Iris coloboma |
ORPHA:2328 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta |
ORPHA:2983 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Cheilitis, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web,... |
ORPHA:54028 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Proteinuria, Kyphosis, Chronic kidney disease, Vesicoureteral reflux |
ORPHA:261222 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Hepatosplenomegaly, Aspi... |
ORPHA:845 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Congenital contracture, Peters an... |
OMIM:236670 |
| Mend Syndrome |
|
Telecanthus, Cataract, Upslanted palpebral fissure, Microphthalmia, Aortic valve stenosis, Limb h... |
ORPHA:401973 |
| Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia, Dysphagia |
ORPHA:52368 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly, Pulmonary edema |
OMIM:105210 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Aganglionic megacolon, Hypospadias, Kyphoscoliosis, Hydroureter, Bicuspid a... |
OMIM:309800 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Ga... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Ga... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Ga... |
ORPHA:99226 |
| Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Ga... |
ORPHA:881 |
| Axial Mesodermal Dysplasia Spectrum |
|
Limbal dermoid, Abnormality of the spleen, Congenital diaphragmatic hernia |
ORPHA:1834 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly |
OMIM:617022 |
| Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Cholecystitis, Orthostatic hypotension due to autonomic dysfunction, Neopla... |
ORPHA:309271 |
| Acro-Renal-Ocular Syndrome |
|
Epicanthus, Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma, Short pa... |
ORPHA:959 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Third degree atr... |
OMIM:619636 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Conjunctival whitish salt-like deposits |
OMIM:211900 |
| 1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Patent ductus arteriosus, Microphthalmia, Iris coloboma |
ORPHA:250989 |
| Micro Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2510 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Osteoporosis, Cardiomegaly |
ORPHA:1517 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdominal wall musculature, Anterio... |
OMIM:612289 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Abnormal lung morphology, Aplasia/H... |
ORPHA:646 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthri... |
OMIM:106300 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, High palate, Gastroesophageal ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, High palate, Gastroesophageal ... |
ORPHA:353277 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Leukocytosis, Vasculitis, Panniculitis, Increased proportion of CD4-posi... |
OMIM:617099 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Long uvula, Kyphoscoliosis, Pericardial effusion, Kyphosis, Cr... |
ORPHA:536532 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Kyphosis, Scoliosis, Atrial septal defect, Cervical C2/C3 vertebral fu... |
OMIM:617190 |
| Herpes Simplex Virus Encephalitis |
|
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Osteoporosis, Mitral valve pro... |
OMIM:245600 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
| Orofaciodigital Syndrome Ix |
|
High palate, Recurrent aspiration pneumonia, Cleft palate, Camptodactyly |
OMIM:258865 |
| Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
| Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Flexion contracture, Aspiration pneumonia |
ORPHA:35069 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell... |
OMIM:615966 |
| Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
| Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Hemivertebr... |
OMIM:214800 |
| Monosomy 13Q14 |
|
Epicanthus, Cataract, Webbed neck, Microphthalmia, Iris coloboma, Ptosis |
ORPHA:1587 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, High palate, Atrial septal defect, Spina bifida ... |
OMIM:135900 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Downslanted palpebral fissures, Highly arched eyebrow |
OMIM:619135 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Macroglossia, Scoliosis, Dysphagia, Achalasia |
ORPHA:79107 |
| 4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... |
ORPHA:2916 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Synophrys, Upslanted palpebral fissure, Microcornea, Blepharophimosis, Microphthalmia... |
OMIM:616734 |
| Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Congenital diaphragmatic hernia, Synophrys, Upslanted palpebra... |
ORPHA:261112 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Flexion contracture, Optic nerve hypoplasia |
OMIM:614833 |
| Lissencephaly Due To Lis1 Mutation |
|
Scoliosis, Aspiration pneumonia |
ORPHA:95232 |
| Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1553 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira... |
ORPHA:79138 |
| X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Micropenis, Hypot... |
ORPHA:268261 |
| Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... |
ORPHA:330021 |
| Alkaptonuria |
|
Vertebral fusion, Low back pain, Mitral valve calcification, Kyphosis, Aortic valve calcification... |
OMIM:203500 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Gastrointestinal dysmotility, Scoliosis, Camptodactyly, Flexion contract... |
ORPHA:88628 |
| Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Narrow palate, High pal... |
ORPHA:192 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Cholera |
|
Tachycardia, Abnormality of renal excretion, Achlorhydria, Tachypnea, Hypovolemic shock, Aspirati... |
ORPHA:173 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, K... |
OMIM:300967 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Telecanthus, Camptodactyly of finger, Iris coloboma |
ORPHA:1236 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Adenoma sebaceum, Scoliosis, Hyperlordosis |
ORPHA:3353 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Gastroesophageal reflux, Chronic otitis media, Vesicou... |
ORPHA:821 |
| Ohdo Syndrome, X-Linked |
|
Epicanthus, Sparse eyebrow, Blepharophimosis, Microphthalmia, Downslanted palpebral fissures, Ptosis |
OMIM:300895 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, High palate, Scoliosis, Hyperlordosis |
OMIM:617011 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Optic nerve hypoplasia, Muscular dystrophy, Peters anomaly, Microphthalmia |
OMIM:614643 |
| Monosomy 9Q22.3 |
|
Epicanthus, Cataract, Rhabdomyosarcoma, Microphthalmia, Downslanted palpebral fissures |
ORPHA:77301 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia |
OMIM:616553 |
| Acromegaly |
|
Acne, Dysuria, Elevated circulating growth hormone concentration, Dysmenorrhea, Hypogonadotropic ... |
ORPHA:963 |
| Treacher-Collins Syndrome |
|
Cataract, Absent eyelashes, Patent ductus arteriosus, Blepharospasm, Eyelid coloboma, Hypoplasia ... |
ORPHA:861 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Flexion contracture, Hyperhidrosis, Distal amyotrophy, Scoliosis |
OMIM:609541 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis |
OMIM:259420 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Increased serum beta-hexosaminidase, Recurrent bronchitis, Cardiomegaly... |
OMIM:252500 |
| Somatomammotropinoma |
|
Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone concentration, Dysmen... |
ORPHA:314769 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebral bodies, Hy... |
ORPHA:666 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyebrow, Iris coloboma, Sparse eyelashes, Unilateral microphthalmos |
OMIM:618874 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Leuko... |
ORPHA:764 |
| Shprintzen Omphalocele Syndrome |
|
Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Scoliosis, Anal atresia |
OMIM:182210 |
| Fumarase Deficiency |
|
Conjunctival icterus, Necrotizing enterocolitis, Polycythemia |
OMIM:606812 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Scapular winging, Kyphosis, High, narrow palate, Mitral valve prolapse, Hypertension, Keratoconju... |
OMIM:616914 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Hyperhidrosis, Anemia, Apl... |
ORPHA:642 |
| Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Facial palsy, Abnormality of the liver, Abnormal parotid g... |
ORPHA:252164 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Adrenal hyperplasia, Hem... |
ORPHA:79500 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Eyelid coloboma, Iris coloboma, Congenital diaphragmatic hernia |
ORPHA:268249 |
| Frank-Ter Haar Syndrome |
|
Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Ventricular septal defect, Secund... |
OMIM:249420 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Gastroesophageal reflux, Scoliosis |
ORPHA:261144 |
| Branchiooculofacial Syndrome |
|
Hypospadias, Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kypho... |
OMIM:113620 |
| Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
| Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis, Abnormal respiratory system physiology, Dysphagia, Cough |
ORPHA:97349 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Cardiomegaly |
ORPHA:2463 |
| 17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Gastrointestinal stroma tumor, Kyphosis, Abnormal l... |
ORPHA:97685 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, Flexion contracture, Urinary urgency, Impotence, Urinary ret... |
ORPHA:99027 |
| Yunis-Varon Syndrome |
|
Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Bilateral microphthalmos, Renovascular ... |
ORPHA:3472 |
| Iniencephaly |
|
Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis multiplex congeni... |
ORPHA:63259 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
| Kindler Syndrome |
|
Corneal erosion, Telangiectasia of the skin, Periodontitis, Symblepharon |
OMIM:173650 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect... |
ORPHA:99125 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Atrial sep... |
OMIM:616268 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Hyperhidrosis, Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Patent ductus ... |
OMIM:206900 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Corneal pterygium, Symblepharon |
OMIM:245660 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Cleft palate, Respiratory insufficiency... |
ORPHA:140 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Kyphosis, Respiratory insufficiency, Congenital hypothyroidism, Contractures of the large ... |
OMIM:617527 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia, Anemia, Developmental cataract |
OMIM:127000 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Recurrent otitis media, Lumbar hyperlordosis, Scoliosis |
OMIM:250420 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Patent ductu... |
OMIM:612474 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Telecanthus, Iris coloboma |
ORPHA:2612 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Congenital hypoparathyroidism, Decreased response to growth hormone stimulation test |
OMIM:241410 |
| Mowat-Wilson Syndrome |
|
Cataract, Patent ductus arteriosus, Generalized muscle hypertrophy, Microcornea, Ectopia pupillae... |
OMIM:235730 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, High palate, Cryptorchidism |
OMIM:619244 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Hypospadias, Ventricula... |
OMIM:194190 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Camptodactyly of finger, Limb hypertonia |
OMIM:616920 |
| Curry-Jones Syndrome |
|
Blepharophimosis, Microphthalmia, Iris coloboma |
OMIM:601707 |
| Occipital Horn Syndrome |
|
Hiatus hernia, Kyphosis, Jaundice, High, narrow palate, Hepatitis, Cholestasis, Dysphagia, Bladde... |
ORPHA:198 |
| Fryns Syndrome |
|
Microphthalmia, Corneal opacity, Congenital diaphragmatic hernia |
ORPHA:2059 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, High palate, Micropenis |
ORPHA:457359 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Kyphosis, Secondary amenorrhea, Hypertension, Increased circula... |
OMIM:610489 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Momo Syndrome |
|
Epicanthus, Eyelid coloboma, Bilateral microphthalmos, Downslanted palpebral fissures |
ORPHA:2563 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Telecanthus, Symblepharon, Webbed neck, Sternocleidomastoid amyotrophy, Thick eyebrow |
ORPHA:488434 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Abnormal form of the ve... |
ORPHA:3042 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Apnea, Kyphosis, Respiratory insufficiency, Hyperhidrosis, Contractures of the large joints, High... |
ORPHA:521426 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Eczema, Short neck, Oral-pharyngeal dysphagia, Kyphosis, High, narrow palate, Prom... |
OMIM:300966 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Hypospadias, Pneumonia, Short neck, Secundum atrial septal defe... |
OMIM:264090 |
| Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
| Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Spontaneous pneumothor... |
ORPHA:558 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Short palpebral fissure |
OMIM:608670 |
| Stickler Syndrome |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Kyphosis, Osteoarthritis, Spinal canal... |
ORPHA:828 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Epicanthus, Torticollis, Antecubital pterygium, Knee flexion contracture, Popliteal pterygium, Bl... |
OMIM:609945 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Tricuspid regurgitation, Hypophosphaturia, Hyperlordosis, Hypoplastic sweat gla... |
ORPHA:73223 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
| Wolfram Syndrome 2 |
|
Abnormal bleeding, Neurogenic bladder, Primary amenorrhea, Gastric ulcer, Oligomenorrhea |
OMIM:604928 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Kyphosis, Complete atrioventricular canal defect, High palate, Scoliosis |
ORPHA:476126 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness |
ORPHA:88644 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Hydroureter, Aganglionic megacolon, Eczema, Campt... |
ORPHA:2273 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract |
OMIM:610651 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Short palpebral fissure |
OMIM:251230 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Orbital cyst, Iris coloboma |
OMIM:109400 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Fanconi Anemia, Complementation Group L |
|
Upslanted palpebral fissure, Microphthalmia, Anemia, Webbed neck |
OMIM:614083 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Neonatal respiratory distress, Ventricular septal defect, Kyphosis,... |
ORPHA:1393 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Hydroureter, Supernumerary nipple, Short neck, Unilateral renal agenesis, Crypto... |
OMIM:619194 |
| Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
| Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, High palate, Hypothyroidism, Scoliosis |
ORPHA:2479 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Aspiration pneumonia |
OMIM:616430 |
| Holoprosencephaly 7 |
|
Synophrys, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow orbits, Microphthalmia,... |
OMIM:610828 |
| Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Pmm2-Cdg |
|
Respiratory distress, Multiple joint contractures, Intracranial hemorrhage, Hepatic fibrosis, Hig... |
ORPHA:79318 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Cataract, Eczema, Decreased response to growth hormone... |
OMIM:613406 |
| Meckel Syndrome 14 |
|
Microphthalmia, Mitral regurgitation, Tricuspid regurgitation |
OMIM:619879 |
| Proteus Syndrome |
|
Thymus hyperplasia, Decreased muscle mass, Myofibrillar myopathy, Testicular neoplasm, Sudden car... |
ORPHA:744 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, High palate, Otiti... |
OMIM:618050 |
| Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Anhidrosis, Proteinuria, Hip contracture, Cryptorchidism, Kyph... |
OMIM:216400 |
| Pseudotrisomy 13 Syndrome |
|
Upslanted palpebral fissure, Microphthalmia |
OMIM:264480 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly, High palate |
OMIM:616294 |
| Vacterl With Hydrocephalus |
|
Microcornea, Microphthalmia, Anophthalmia |
ORPHA:3412 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cataract, Leukocoria |
ORPHA:2714 |
| Weaver Syndrome |
|
Diastasis recti, Kyphosis, Cryptorchidism, Hydrocele testis, Scoliosis, Camptodactyly, Joint cont... |
OMIM:277590 |
| X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Hypospadias, Kyphoscoliosis, Ectopic kidney, Kyphosis, Cryptorchidism, Cle... |
ORPHA:3063 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Cataract |
ORPHA:2250 |
| Cdags Syndrome |
|
Hypospadias, Rectourethral fistula, Kyphosis, Cleft palate, Rectovaginal fistula, Anal atresia |
OMIM:603116 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, High, narrow palate, Abnormal curvature of the vertebral column... |
OMIM:619475 |
| Renpenning Syndrome 1 |
|
Epicanthus, Telecanthus, Cataract, Upslanted palpebral fissure, Camptodactyly, Microphthalmia, Jo... |
OMIM:309500 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Hypohidrosis |
ORPHA:1005 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Lower eyelid coloboma, ... |
OMIM:154500 |
| Charge Syndrome |
|
Epicanthus, Anophthalmia, Facial palsy, Highly arched eyebrow, Patent ductus arteriosus, Eyelid c... |
ORPHA:138 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Synophrys, Cataract, Lacrimal duct atresia |
OMIM:603457 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Anemia |
OMIM:617244 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Cryptorchidism, Scoliosis, Micropenis |
OMIM:619718 |
| Cowden Syndrome |
|
Abnormal penis morphology, Enlarged polycystic ovaries, Kyphosis, Furrowed tongue, Hamartomatous ... |
ORPHA:201 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Optic nerve hypoplasia, Eczema, Ankle flexion contracture, Camptodac... |
ORPHA:468631 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Hypoplasia of the retina, Muscular dystrophy, Opacification of the corneal... |
OMIM:253280 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Microphthalmia, Patent ductus arteriosus |
OMIM:616300 |
| Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:607778 |
| Roberts Syndrome |
|
Cataract, Progressive flexion contractures, Knee flexion contracture, Microphthalmia, Wrist flexi... |
ORPHA:3103 |
| Neu-Laxova Syndrome 1 |
|
Ablepharon, Cataract, Absent eyelashes, Patent ductus arteriosus, Camptodactyly, Microphthalmia, ... |
OMIM:256520 |
| Jaberi-Elahi Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617988 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Gastroesophageal reflux, Scoliosis, Aspiration |
OMIM:613454 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Scoliosis, Abnormal mitral valve morphology, Short hard palate |
ORPHA:1969 |
| Mend Syndrome |
|
Sacral dimple, Kyphosis, Cryptorchidism, High palate, Aortic valve stenosis, Crossed fused renal ... |
OMIM:300960 |
| Aicardi Syndrome |
|
Cataract, Microphthalmia, Recurrent pneumonia, Sparse lateral eyebrow |
OMIM:304050 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pneumothorax, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Bifid tongue, Bifid uvula, Tongue nodules |
OMIM:258850 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, Facial palsy, Kyphosis, High, narrow palate, Cryptorchidi... |
ORPHA:2658 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Neonatal respiratory distress, Esophageal stenosis, Orthostatic hypotension, Hypohidrosis, Adrena... |
OMIM:615510 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Hypospadias, Eczema, Kyphosis, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:85199 |
| Adams-Oliver Syndrome 1 |
|
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, Aortic valve st... |
OMIM:100300 |
| Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus, Cryptophthalmos |
OMIM:617666 |
| Multiple Osteochondromas |
|
Neuropathic spinal arthropathy, Intestinal obstruction, Pneumothorax, Arthritis, Urinary retentio... |
ORPHA:321 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:256040 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, Enlarged kidney |
OMIM:130650 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
| Occipital Horn Syndrome |
|
Orthostatic hypotension, Hiatus hernia, Kyphosis, Hydronephrosis, Bladder diverticulum, Platyspon... |
OMIM:304150 |
| Pallister-Hall Syndrome |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Pate... |
OMIM:146510 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Abnormal pupil morphology, Flexion contracture, Microcornea, Iris coloboma, Iris atroph... |
ORPHA:261552 |
| Yunis-Varon Syndrome |
|
Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Ventricular septal defect, ... |
OMIM:216340 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Congenital hypoparathyroidism, Bilateral microphthalmos, Anemia, Developmental cataract |
ORPHA:93325 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
| Neurofibromatosis Type 1 |
|
Kyphosis, Cryptorchidism, Chronic myelogenous leukemia, Hypertension, Pheochromocytoma, Scoliosis... |
ORPHA:636 |
| Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
| Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Camptodactyly of 2nd-5th fingers, Blepharophimosis, Microphthalmia, ... |
ORPHA:1106 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Anophthalmia, Corneal opacity, Absent eyelashes, Bilateral microphthalmos, Upper ... |
OMIM:219000 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Sclerocornea, Orbital cyst, Microcornea, Microphthalmia, Anterior hypopituitarism, ... |
OMIM:607932 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia, Cataract, Congenital diaphragmatic hernia |
OMIM:273395 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma |
ORPHA:1134 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Epicanthus, Iris coloboma |
OMIM:613884 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Ankle flexion contracture, Patent ductus arteriosus,... |
OMIM:268300 |
| Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Portal hypertension, Conjunctival icterus, Splenomegaly, Dilated cardiom... |
OMIM:243800 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Epicanthus, Optic nerve hypoplasia, Highly arched eyebrow, Patent du... |
ORPHA:508488 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Kyphosis, High, narrow palate, Narrow palate... |
OMIM:119600 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic va... |
OMIM:182250 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Ectopia lentis, Telangiectasia, A... |
OMIM:305600 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
| Townes-Brocks Syndrome |
|
Cataract, Blepharophimosis, Patent ductus arteriosus, Limbal dermoid, Microphthalmia, Hypothyroid... |
ORPHA:857 |
| Joubert Syndrome 2 |
|
Microphthalmia |
OMIM:608091 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, High palate, Hypospadias |
OMIM:609944 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Cardiomegaly, Hepatosplenomegaly, Prolonged neonatal jaundice, Hyp... |
ORPHA:51 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Kyphosis, Hypercalciuria, Increased urine deoxypyridinoline level |
OMIM:239000 |
| Mowat-Wilson Syndrome |
|
Telecanthus, Cataract, Asplenia, Patent ductus arteriosus, Flexion contracture, Enterocolitis, De... |
ORPHA:2152 |
| Aicardi Syndrome |
|
Microphthalmia, Sparse lateral eyebrow |
ORPHA:50 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Telecanthus, Cataract, Asplenia, Flexion contracture, Decreased circulating antibody level, Astig... |
ORPHA:261537 |
| Pallister-Hall Syndrome |
|
Adrenocorticotropic hormone deficiency, Patent ductus arteriosus, Primary adrenal insufficiency, ... |
ORPHA:672 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Wrinkly Skin Syndrome |
|
Scapular winging, Hypoplasia of the musculature, Kyphosis, Cryptorchidism, Muscular ventricular s... |
OMIM:278250 |
| Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Corneal scarring, Developmental cataract, Microphthalmia, Joint contract... |
OMIM:309000 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Osteomalacia, Cardiomegaly, Pericardial effusion, Myocardial calcificati... |
ORPHA:51608 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Kyphosis, Enuresis nocturna, Pollakisuria, Lower limb hypertonia, Foot dors... |
ORPHA:171629 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Hyperhidrosis, Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Micr... |
OMIM:610829 |
| Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis |
OMIM:619557 |
| Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
| Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Hypertension, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
| Ramon Syndrome |
|
Kyphosis, Narrow palate, Telangiectasia, Scoliosis, Juvenile rheumatoid arthritis |
OMIM:266270 |
| Fraser Syndrome |
|
Anophthalmia, Lacrimal duct aplasia, Malformed lacrimal duct, Microphthalmia, Cryptophthalmos |
ORPHA:2052 |
| Craniofacial Microsomia 1 |
|
Anophthalmia, Hypoplasia of facial musculature, Blepharophimosis, Patent ductus arteriosus, Upper... |
OMIM:164210 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
| Coffin-Lowry Syndrome |
|
Kyphosis, Rectal prolapse, Narrow palate, Lumbar kyphosis, Mitral regurgitation, High palate, Sco... |
OMIM:303600 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia |
ORPHA:2166 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Bilateral cryptorchidis... |
OMIM:259050 |
| Lafora Disease |
|
Hepatic failure, Recurrent aspiration pneumonia |
ORPHA:501 |
| Holoprosencephaly 2 |
|
Microphthalmia, Iris coloboma |
OMIM:157170 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Microphthalmia, Agenesis of the diaphragm |
OMIM:236680 |
| Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
