Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Bradycardia, Atrial fibrillation |
OMIM:613087 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... |
OMIM:614022 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... |
OMIM:616201 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... |
OMIM:615770 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Ovoid vertebral bo... |
OMIM:607778 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sc... |
OMIM:156530 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Atrial Standstill 1 |
|
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... |
OMIM:108770 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Chondroectodermal Dysplasia With Night Blindness |
|
Micrognathia, Difficulty walking, Abnormal hair morphology, Talipes calcaneovarus, Abnormality of... |
ORPHA:319195 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... |
OMIM:614954 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Flared iliac wing, Pulmonary hypoplasia, Nephronophthisis, Genu recurvat... |
OMIM:184260 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Parana Hard Skin Syndrome |
|
Respiratory insufficiency, Thickened skin, Tapered finger, Generalized hyperpigmentation, Restric... |
ORPHA:2812 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Ankle clonus, Spondylolisthesis at L5-S1, Atlantoaxial dislocation, Joint laxity, ... |
OMIM:600561 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Winchester Syndrome |
|
Kyphosis, Generalized osteoporosis, Hirsutism, Broad metacarpals, Carpal osteolysis, Osteolysis i... |
OMIM:277950 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Alopecia, Anemia, Ectopic ossification in ligament tissue, Hallux valg... |
ORPHA:337 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Right ventricular dilatation, Left ... |
OMIM:615616 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Areflexia of lower limbs, Inability to walk, Micrognathia, Hip dysplasia, Short neck, S... |
OMIM:611890 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Hyperlordosis, Flexion contracture, Death in infancy, Spinal rigidity,... |
ORPHA:157973 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Maternal diabetes, Coxa vara, Vertebral segmentation defect, Pol... |
ORPHA:1988 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Aredyld Syndrome |
|
Sparse body hair, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Type II diabetes mellitus, Cac... |
ORPHA:1133 |
Spondyloepiphyseal Dysplasia Congenita |
|
Micrognathia, Short femur, Short neck, Aplasia/hypoplasia involving bones of the extremities, Lum... |
ORPHA:94068 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Short femur, Pleural effusion, Multiple ... |
OMIM:616897 |
Flynn-Aird Syndrome |
|
Alopecia, Increased bone density with cystic changes, Increased bone mineral density, Ataxia, Kyp... |
OMIM:136300 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Joint laxity, Epiphyseal dysplasia, Failure to thrive, Kyphoscoliosis,... |
OMIM:614727 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Knee flexion contracture, Thoracolumbar scoliosis, Respiratory insufficiency, Hip contracture, Ta... |
OMIM:313420 |
Hypouricemia, Renal, 1 |
|
Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Ataxia, Steatorrhea, Decreased HDL cholesterol concentra... |
OMIM:615558 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... |
OMIM:612201 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Respiratory insufficiency, Alopecia, Flexion contracture, Ichthyosis, Rhizomelia, Micrognathia, C... |
OMIM:215100 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Short tibia, Hip subluxation, Hypopigmentation of the skin, Coxa valga, ... |
ORPHA:356961 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... |
ORPHA:228302 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... |
OMIM:208230 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad foot, Genu valgum, Upper limb undergrowth, Short metatarsal, Abnormal carpal morphology, Co... |
ORPHA:93351 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Coarse metaphyseal trabecularization, Abnormal pelvic girdle b... |
ORPHA:2779 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Kyphosis, Micrognathia, Long eyelashe... |
ORPHA:48431 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Micrognathia, Short femur, Fibular bowing, Nephrolithiasis, Dentinogenesis impe... |
OMIM:613848 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Hyperlordosis, Genu varum, Progressive leg bowing, Hip dysplasia, Short lower limbs, Gait disturb... |
ORPHA:2501 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Abnormality of skin pigmentation, Thickened skin, Weight loss, Premature gra... |
ORPHA:1979 |
Syndactyly Type 4 |
|
Camptodactyly of finger, Triphalangeal thumb, Short tibia, Toe syndactyly, Foot polydactyly, Hand... |
ORPHA:93405 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Kyphosis, Short foot, Toe syndactyly, Micrognathia,... |
ORPHA:3409 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Flat capital femoral epiphysis, Camptodactyly, Generalized osteoporosis, Irregular acetabular roo... |
ORPHA:1159 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Pigmentary retinopathy, Abnormality of connective tissue, Multiple joi... |
ORPHA:370968 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Flexion contracture, Spinal rigidity, Loss of ambulation, Scoliosis, Death in adolescence, Respir... |
OMIM:300717 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... |
OMIM:271530 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616276 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Toe syndactyly, Synophrys, Cachexia, Pes cavus, Short neck, Abnormal hai... |
ORPHA:85293 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Coxa valga, Micrognathia, Short neck, Talipes equinovarus, Abnormal fe... |
OMIM:255800 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis |
OMIM:608805 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of ... |
ORPHA:189 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Broad femoral neck, Alopecia, Ectopic ossification in ligament tissue,... |
OMIM:135100 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Horizontal ribs, Abnorma... |
ORPHA:1505 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... |
OMIM:613690 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Intrauterine growth retardation, Brac... |
OMIM:234250 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Failure to thrive, Short humerus |
OMIM:600121 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Coxa valga, Second metatarsal posteriorly placed, ... |
OMIM:214150 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
Asbestos Intoxication |
|
Clubbing of fingers, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Diffuse... |
ORPHA:2302 |
Mucopolysaccharidosis, Type Iva |
|
Chondroitin sulfate excretion in urine, Pointed proximal second through fifth metacarpals, Coxa v... |
OMIM:253000 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Onychogryposis, Hyperkeratosis, Abnormal hair morphology, Joint stif... |
OMIM:617756 |
Renpenning Syndrome |
|
Alopecia, Decreased testicular size, Thin eyebrow, Cachexia, Clinodactyly of the 5th finger, Abno... |
ORPHA:3242 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Respiratory insufficiency, Micrognathia, Elbow flexion cont... |
OMIM:601559 |
Flynn-Aird Syndrome |
|
Alopecia, Kyphosis, Type II diabetes mellitus, Cachexia, Ataxia, Primary adrenal insufficiency, S... |
ORPHA:2047 |
Thanatophoric Dysplasia Type 1 |
|
Respiratory insufficiency, Patent ductus arteriosus, Hypoplastic ilia, Kyphosis, Wide anterior fo... |
ORPHA:1860 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Nephropathy, Lymphadenopathy, Hepatomegaly, Bence Jon... |
ORPHA:100024 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Hypoplastic fingernail, Abnormal metaphysis morphology, ... |
ORPHA:240 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Prieto Syndrome |
|
11 pairs of ribs, Coxa valga, Patellar dislocation, Patellar subluxation, Clinodactyly, Inguinal ... |
OMIM:309610 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Small for gestational age, Abnormal ... |
ORPHA:70589 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Osteogenesis Imperfecta, Type Xiii |
|
Decreased body weight, Increased bone mineral density, Dislocated radial head, Reduced bone miner... |
OMIM:614856 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epit... |
ORPHA:49041 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Short femoral neck, Kyphosis, Small for gestational age, Delayed ossificat... |
OMIM:618392 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
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Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Zimmermann-Laband Syndrome 3 |
|
Triphalangeal thumb, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2... |
OMIM:618658 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
Warburg Micro Syndrome 1 |
|
Micrognathia, Joint hypermobility, Overlapping toe, Failure to thrive, Kyphoscoliosis, Hypertrich... |
OMIM:600118 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Coxa valga, Limited elbow movement, Abnormal carpal morphology, Short 4th... |
OMIM:127300 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Patellar subluxation, Supernumerary ribs, Inguinal hernia, Cryptorchidism, Bilateral ... |
ORPHA:2958 |
Achondroplasia |
|
Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Pulmonary hypoplasia,... |
OMIM:100800 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Majeed Syndrome |
|
Pulmonary infiltrates, Increased susceptibility to fractures, Metaphyseal irregularity, Flexion c... |
ORPHA:77297 |
Cantu Syndrome |
|
Broad first metatarsal, Patent ductus arteriosus, Coxa valga, Erlenmeyer flask deformity of the f... |
OMIM:239850 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Patent ductus arteriosus, Respiratory tract infection, Rhizomelia, Short ribs, Small... |
OMIM:607143 |
Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Respiratory insufficiency, Decreased body weight, C... |
ORPHA:800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Tapered finger, Inability to walk, Cachexia, Short neck, Osteopenia, Scoliosis, ... |
OMIM:616801 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Alopecia, Recurrent fractures, Osteomalacia, Coarse metaphyseal trabecul... |
ORPHA:93160 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Slender long bone, Cachexia, Gait disturbance, Limitation ... |
ORPHA:2774 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Productive cough, Bronchiectasis, Cachexia, Abnormal respiratory sys... |
ORPHA:60033 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation of hair, Platyspondyly, Osteop... |
ORPHA:2786 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Death in childhood, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed pu... |
OMIM:616033 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Bradycardia, Congestive heart failure |
OMIM:619048 |
Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Respiratory insufficiency, Horizontal ribs, Pulmonary hypoplasia, Unicoronal synosto... |
OMIM:616300 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Gonadotropin deficiency, Choreoathetosis, Oxygen desaturation on exertion, Crackles, Compensated ... |
OMIM:610978 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Cafe-au-lait spot, Absent eyelashes, Thin nail, Male hypogonadism, Nail dystrophy... |
OMIM:618625 |
Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Moynahan Syndrome |
|
Alopecia, Hypogonadism, Cachexia, Hyperkeratosis, Sparse hair |
ORPHA:2574 |
Anonychia With Flexural Pigmentation |
|
Abnormality of the plantar skin of foot, Axillary and groin hyperpigmentation and hypopigmentatio... |
ORPHA:69125 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Parastremmatic Dwarfism |
|
Genu valgum, Flexion contracture, Kyphosis, Short neck, Scoliosis, Bowing of the long bones |
OMIM:168400 |
Hyperekplexia 4 |
|
Umbilical hernia, Distal arthrogryposis, Flexion contracture, Camptodactyly, Adducted thumb, Ingu... |
OMIM:618011 |
Mucopolysaccharidosis, Type Ivb |
|
Chondroitin sulfate excretion in urine, Pointed proximal second through fifth metacarpals, Coxa v... |
OMIM:253010 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Decreased body weight, Micrognathia, Synophrys, Dorsocervical fat pad, Hypoglycem... |
ORPHA:391408 |
Camurati-Engelmann Disease |
|
Coxa valga, Cachexia, Cortical thickening of long bone diaphyses, Slender build, Splenomegaly, Ge... |
ORPHA:1328 |
Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Multiple lipomas, Osteoporosis, Limitation of joint mobility |
ORPHA:3294 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased ... |
ORPHA:75840 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Short neck, Limb undergro... |
OMIM:108720 |
Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Short finger, Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the... |
OMIM:302000 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Christianson Syndrome |
|
Gait ataxia, Truncal ataxia, Cachexia, Adducted thumb, Death in early adulthood, Joint hyperflexi... |
ORPHA:85278 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight, Osteoporosis, Nephrotic syndrome |
OMIM:613606 |
Erythrokeratodermia Variabilis |
|
Alopecia, Irregular hyperpigmentation, Tapered finger, Weight loss, Abnormal testis morphology, A... |
ORPHA:317 |
Proteus Syndrome |
|
Thin bony cortex, Multiple lipomas, Hypertrophy of skin of soles, Spinal canal stenosis, Facial h... |
OMIM:176920 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
Sialidosis Type 2 |
|
Pedal edema, Splenomegaly, Flexion contracture, Kyphosis, Ataxia, Inguinal hernia, Nephropathy, D... |
ORPHA:87876 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Joint contracture, Failure to thrive, Respiratory failure, Death in ch... |
OMIM:616081 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Patent ductus arteriosus, Radial club hand, Short 5th finger, Hypoplasia of the radi... |
ORPHA:1972 |
Rhizomelic Chondrodysplasia Punctata |
|
Sparse body hair, Alopecia, Ichthyosis, Rhizomelia, Epiphyseal stippling, Limitation of joint mob... |
ORPHA:177 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... |
ORPHA:2722 |
Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Broad foot, Horizontal ribs, Pulmonary hypoplasia, Short neck, Limb un... |
OMIM:269860 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Recurrent fractures, Undulate ribs, Short ribs, Short long bone, Enlarg... |
OMIM:618188 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Nail-Patella Syndrome |
|
Flexion contracture, Patellar dislocation, Elbow flexion contracture, Fingernail dysplasia, Abnor... |
ORPHA:2614 |
Insulin-Resistance Syndrome Type A |
|
Type II diabetes mellitus, Generalized hyperpigmentation, Delayed puberty, Hyperkeratosis, Genera... |
ORPHA:2297 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Limited knee flexion/extension, Inability to walk, Reduced maximal ins... |
ORPHA:266 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Short neck, Arthrogryposis multiplex co... |
OMIM:620076 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Alopecia, Finger syndactyly, Short thumb, Fingernai... |
ORPHA:2251 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Respiratory insufficiency, Respiratory distress, Failure to thrive, Rest... |
OMIM:614399 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hip subluxation, Reduced pancreatic beta cells, Coxa valga, Irregular carpal bones, Ivory epiphys... |
OMIM:226980 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Finger syndactyly, Clinodactyly of the 5th finger, Abnormal fingernail morphology, Ab... |
ORPHA:1515 |
Congenital Myopathy 14 |
|
Knee flexion contracture, Flexion contracture, Hip contracture, Death in infancy, Elbow flexion c... |
OMIM:618414 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Multiple joint contractures, Hallux valgus, Micrognathia, Atlantoaxial... |
ORPHA:536467 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Death in childhood, Splenomegaly |
OMIM:619164 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... |
ORPHA:157 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Gait ataxia, Hyperlordosis, Hypothyroidism, Increased vertebral height, Small for gestational age... |
OMIM:616817 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... |
OMIM:615248 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Flexion contracture, Recurrent aspiration pneumonia, Inability to walk, Hepatosplenomegaly, Waddl... |
ORPHA:2590 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Tip-toe gait, Kyphosis, Hip dysplasia, ... |
OMIM:615290 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Thin bony cortex, Thickened skin, Micrognathia, Metacarpal osteolysis,... |
OMIM:259600 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Pulmonary hypopl... |
ORPHA:56304 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Coxa vara, Kyphosis, Abnormality of the epiphysis... |
ORPHA:2114 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Flexion contracture, Butterfly vertebrae, Hip dislocation, Pseudoepiphyses of hand bones, Short n... |
OMIM:613330 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, Sparse scalp ... |
ORPHA:2850 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Joint hyperflexibility, Scoli... |
ORPHA:40 |
Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Tapered finger... |
ORPHA:2930 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Increased serum serotonin, Hirsutism, Recurrent respiratory ... |
ORPHA:85288 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Hypopigmentation of the skin, Absent toenail, Atrophic scars, Palmoplantar hy... |
ORPHA:89838 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... |
ORPHA:1055 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Fair hair, Spin... |
OMIM:614613 |
Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Cervical C2/C3 vertebral fusion, Kyphosis, Short metacarpal, Synophrys,... |
OMIM:617190 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Vertebral hypoplasia, Orthokeratosis, Micrognathia, Epiphyseal stippling, Pu... |
OMIM:308050 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Central heterochromia, Small for... |
OMIM:275400 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... |
OMIM:601005 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Respiratory insufficiency, Flexion contracture, Micrognathia, Elbow flexion contracture, Hip disl... |
OMIM:210710 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Waddling gait, Irregular ac... |
OMIM:617974 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Supernumerary ribs, Short femur, Hypoplasia of the ulna, Aplasia/Hypop... |
OMIM:612447 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Cafe-au-lait spot, Hypogonadism, Small for gestational age, Micrognathia, Clinodactyly, Clinodact... |
ORPHA:73272 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Respiratory insufficiency, Increased bone mineral density, Micrognathia,... |
ORPHA:628 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
Isolated Glycerol Kinase Deficiency |
|
Hyperlordosis, Adrenocortical hypoplasia, Scoliosis, Cryptorchidism, Osteoporosis |
ORPHA:408 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Flexion contracture, Ichthyosis, Patellar dislocation, Epiphyseal stippling, Hip dislocation, Abn... |
ORPHA:35173 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Short metacarpal, Short neck, Pseudohypoparathyroidism, Brachydactyly, Short m... |
OMIM:612463 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Synostosis of c... |
ORPHA:896 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Leukopenia, Avascular necrosis of the capital femoral epiphysis, Premature graying of h... |
OMIM:613990 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Pes cavus, Difficulty walking, Scoliosis, Respiratory insufficiency due to muscle weakness |
OMIM:617087 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Joint stiffness, Cachexia, Arachnodactyly |
ORPHA:1144 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Abdominal obesity, Hip dysplas... |
ORPHA:398079 |
19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Finger syndactyly, Toe syndactyly, Cachexia, Clinodactyly of the 5th fing... |
ORPHA:217346 |
Mcdonough Syndrome |
|
Kyphosis, Micrognathia, Synophrys, Cachexia, Scoliosis, Cryptorchidism |
ORPHA:2471 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Failure to thrive, Recurrent pneumonia, Upper ai... |
ORPHA:60032 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Hypothyroidism, Recurrent lower respiratory tract infections, Hip dislo... |
OMIM:618005 |
Werner Syndrome |
|
Premature graying of hair, Abnormal testis morphology, Increased bone mineral density, White fore... |
ORPHA:902 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Prader-Willi Syndrome |
|
Precocious puberty, Adrenal insufficiency, Iris hypopigmentation, Radial deviation of finger, Sho... |
OMIM:176270 |
Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Increased susceptibility to fractures, Isosexual precocious puberty, Abnorma... |
ORPHA:2788 |
Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... |
OMIM:259450 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Brushfield spots, Hypoplasia of the thymus, Joint contracture of the hand, Microgn... |
OMIM:214110 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... |
OMIM:618987 |
Silver-Russell Syndrome |
|
Precocious puberty, Cafe-au-lait spot, Abnormality of the calcaneus, Decreased testicular size, M... |
ORPHA:813 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... |
ORPHA:422 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, Insulin resista... |
ORPHA:181393 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Distal arthrogryposis, Respiratory failure, Arthrogryposis multiplex c... |
OMIM:208081 |
Thumb Deformity And Alopecia |
|
Alopecia, Short thumb, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Ruijs-Aalfs Syndrome |
|
Decreased body weight, Premature graying of hair, Hypogonadism, Micrognathia, Elbow flexion contr... |
OMIM:616200 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Short neck, Knee dislocation,... |
OMIM:618000 |
Menkes Disease |
|
Alopecia, Hypopigmentation of the skin, Brittle hair, Joint laxity, Osteoporosis, Metaphyseal wid... |
OMIM:309400 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Coxa valga, Spinal dysraphism, Micrognathia, Epiphyseal stippli... |
ORPHA:96334 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Cobblestone-like hyperkeratosis, Abnormal appe... |
ORPHA:2583 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, T lymphocytopenia, Micrognathia, Neoplasm of the pancreas, Generaliz... |
ORPHA:2959 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Respiratory distress, Fa... |
OMIM:612075 |
Cantú Syndrome |
|
Coxa valga, Short hallux, Short neck, Ovoid vertebral bodies, Abnormal metaphysis morphology, Thi... |
ORPHA:1517 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Knee flexion contracture, Hip contracture, Small hand, Micrognathia, Elbow flexion contracture, C... |
ORPHA:371364 |
Acute Interstitial Pneumonia |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Sub... |
ORPHA:79126 |
Macs Syndrome |
|
Alopecia, Sparse eyebrow, Decreased body weight, Ichthyosis, Bronchiectasis, Micrognathia, Joint ... |
OMIM:613075 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia |
OMIM:607250 |
Bruck Syndrome |
|
Respiratory insufficiency, Recurrent fractures, Kyphosis, Arthrogryposis multiplex congenita, Sco... |
ORPHA:2771 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Parenchymal consolidation, Weight loss, Abnormal pulmonary thoracic imaging fi... |
ORPHA:2902 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Bowing of the long bones, Hydroxyprolinuria, Short femur, ... |
OMIM:602080 |
Myotubular Myopathy With Abnormal Genital Development |
|
Penile hypospadias, Death in infancy, Bilateral cryptorchidism, Respiratory distress, Joint hyper... |
OMIM:300219 |
Pelizaeus-Merzbacher Disease |
|
Respiratory insufficiency, Kyphosis, Cachexia, Choreoathetosis, Gait disturbance, Ataxia, Scolios... |
ORPHA:702 |
Hyaline Fibromatosis Syndrome |
|
Flexion contracture, Thickened skin, Progressive flexion contractures, Failure to thrive, Osteoly... |
OMIM:228600 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Cardiac arrest, Premature ventricular contraction, Ventricu... |
OMIM:212138 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S... |
ORPHA:93333 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... |
ORPHA:3329 |
Farber Disease |
|
Respiratory insufficiency, Short toe, Abnormality of the knee, Flexion contracture, Nodular patte... |
ORPHA:333 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Abnormality of body weight, Delayed puberty, Decreased serum insulin-like ... |
ORPHA:314811 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Central apnea, Flexion contracture, Multiple joint contractures, Kyphosis, Microgn... |
OMIM:618291 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia, Progressive cerebellar ataxia |
ORPHA:67046 |
Pulmonary Blastoma |
|
Pulmonary infiltrates, Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough |
ORPHA:64741 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Exertional dyspnea, Calf muscle hypertrophy, Achilles tendon contracture, Decreased cervical spin... |
ORPHA:254361 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Hernia, Abnormal finger morphology, Abnormal testis morphology, Abnormal metacarpal mor... |
ORPHA:3051 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Decreased body weigh... |
OMIM:271640 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Enamel hypoplasia, Hypothyroidism, Low urinary cyclic AMP response to PTH administrati... |
OMIM:103580 |
Mehmo Syndrome |
|
Gait ataxia, Decreased response to growth hormone stimulation test, Inability to walk, Small for ... |
OMIM:300148 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Diffuse palmoplanta... |
OMIM:617294 |
Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Micrognathia, Palmoplantar hyperkeratosis, Cervical ribs, Short palm, Sparse hair... |
OMIM:601812 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Recurrent fractures, Cellulitis, Cough, Osteopenia, Joint hyperflexibility, Scolio... |
ORPHA:2314 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis |
OMIM:615269 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Bulging of the costochondral junct... |
OMIM:277440 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Pulmonary hypopla... |
OMIM:251230 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Cleidocranial Dysplasia |
|
Tapered finger, Micrognathia, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morph... |
ORPHA:1452 |
Bone Dysplasia, Lethal Holmgren Type |
|
Respiratory insufficiency, Patent ductus arteriosus, Anemia, Hernia, Rhizomelia, Weight loss, Sho... |
ORPHA:1842 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Hajdu-Cheney Syndrome |
|
Thickened skin, Patellar dislocation, Micrognathia, Synophrys, Osteolysis, Short neck, Coarse hai... |
ORPHA:955 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Weismann-Netter Syndrome |
|
Anemia, Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, F... |
ORPHA:3344 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cone-shaped epiphyses of the distal phalanges of the hand, Toe syndactyly, Failure to thrive, Hyp... |
OMIM:618958 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, Kyphosis, Micrognathia, Camptodactyly, Short neck, Cryptorchidi... |
OMIM:618393 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Pachydermoperiostosis |
|
Genu varum, Splenomegaly, Thickened skin, Osteomyelitis, Small hand, Anemia, Arthritis, Abnormal ... |
ORPHA:2796 |
Ivic Syndrome |
|
Triphalangeal thumb, Patent ductus arteriosus, Absent thumb, Upper limb undergrowth, Limited elbo... |
OMIM:147750 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Recurrent aspiration pneumonia, Syndactyly |
OMIM:300484 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Iris hypopigmentation, Decreased circula... |
ORPHA:98754 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Biconcave vertebral bodies, Hypopigmentation of the skin, Methioninuria, Brittle hair, Limitation... |
OMIM:236200 |
Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... |
ORPHA:93360 |
Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Broad foot, Short toe, Abnormal bone ossification, Met... |
ORPHA:79106 |
Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Synophrys, Di... |
OMIM:102500 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Disproportionate shortening o... |
OMIM:619217 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Increased urinary disac... |
OMIM:271630 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... |
OMIM:613507 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Gout, Osteoporosis, Glucose intolerance |
OMIM:610947 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Flexion contracture, Precocious puberty, Small pituitary gland, Abdominal... |
ORPHA:398069 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia, Flexion contracture, Short middle phalanx of the 5th finger, Cutaneous finger syndactyl... |
OMIM:203550 |
Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Aplasia/Hypoplasia of the lu... |
ORPHA:2635 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia |
OMIM:104000 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis, Cachexia |
ORPHA:139436 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Thickened skin, Recurrent fractur... |
ORPHA:2176 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Pear-shaped vertebrae, Coxa vara, Rhizomelia, Decreased hip abduction, Short femoral ... |
OMIM:183849 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Osteoporosis, Scoliosis, Pigmentary retinopathy |
OMIM:618234 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Increased susceptibility to fractures, Genu valgum, Anemia, Metaphyseal sclerosis, Short femoral ... |
OMIM:612199 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Short toe, Tapered finger, Kyphosis, Shortening of all distal... |
OMIM:301900 |
Alopecia Universalis Congenita |
|
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair |
OMIM:203655 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Hypoplasia of the thymus, Short long bone, Micrognathia, Pulmonary hypoplasia, Femora... |
OMIM:617022 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Alopecia, Hyperkeratotic papule, Mixed hypo- and hyperpigmentation of the s... |
ORPHA:79397 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss, Aplasia/Hypoplasia of fingers, Micrognathia, Respiratory distr... |
ORPHA:141152 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Iris hypopigmentation, Decreased circula... |
ORPHA:98793 |
Proteus Syndrome |
|
Metatarsus valgus, Thickened skin, Melanocytic nevus, Hallux valgus, Cachexia, Hip dislocation, L... |
ORPHA:744 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Aplasia/Hypoplasia of the nails, Micrognathia, ... |
ORPHA:2756 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Micrognathia, Hypoplasia of penis, Hypoglycemia, Sandal gap, Cryptorchi... |
ORPHA:2022 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Tip-toe gait, Kyphosis, Calf muscle hypertrophy, Achilles tendon... |
OMIM:606612 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Respiratory distress, Lymphopenia, Respiratory failure, Recurre... |
OMIM:619773 |
Bresek Syndrome |
|
Vesicoureteral reflux, Alopecia, Ichthyosis, Decreased testicular size, Postaxial hand polydactyl... |
ORPHA:85284 |
Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis |
OMIM:101900 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Iris hypopigmentation, Decreased circula... |
ORPHA:177904 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Horizontal ribs, Absent gallbladder, Hypoplastic pubic bone, Wide anterior fontanel,... |
OMIM:617925 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar dislocation, Coxa vara, Patellar aplasia, Micrognathia, Flat capita... |
OMIM:147891 |
Lethal Osteosclerotic Bone Dysplasia |
|
Mandibular aplasia, Micrognathia, Respiratory distress, Short neck, Dyspnea, Respiratory failure,... |
ORPHA:1832 |
Perrault Syndrome 1 |
|
Gait ataxia, Ataxia, Pes cavus, Increased circulating gonadotropin level, Scoliosis, Osteoporosis... |
OMIM:233400 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Flexion contracture, Acroosteolysis of distal phalanges (feet), Microgna... |
OMIM:608612 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Iris hypopigmentation, Decreased circula... |
ORPHA:177901 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
Seckel Syndrome |
|
Sparse scalp hair, Micrognathia, Hip dysplasia, Cachexia, Clinodactyly of the 5th finger, Intraut... |
ORPHA:808 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Micrognathia, Pulmonary hypoplasia, Peri... |
OMIM:613177 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Sclerodactyly, Palmoplantar hyperkeratosis, Alopecia totalis, Nail dyspl... |
OMIM:212360 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysu... |
ORPHA:79404 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, Recurrent fractures, Hyperextensibility of the finger joints, Microgna... |
OMIM:613849 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Absent thumb, Radial club hand, Respiratory failure, Abnormal vertebra... |
OMIM:276950 |
Epidermolytic Palmoplantar Keratoderma |
|
Camptodactyly, Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Clubbing, Abnormal fingerna... |
ORPHA:2199 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
Rhyns Syndrome |
|
Decreased response to growth hormone stimulation test, Short femoral neck, Short long bone, Anter... |
OMIM:602152 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Increased urinary gl... |
OMIM:307030 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Inability to walk, Hip dislocation, Ataxia, Waddling gait, Scoliosis, Obesity, Broad-ba... |
OMIM:616756 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Lacticaciduria, Failure to thri... |
OMIM:245400 |
Muscular Dystrophy, Congenital, 1B |
|
Spinal rigidity, Achilles tendon contracture, Respiratory failure |
OMIM:604801 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Talipes, Scoliosis, Hyperkeratosis, Genu rec... |
ORPHA:2611 |
Oculocerebrorenal Syndrome Of Lowe |
|
Respiratory insufficiency, Aminoaciduria, Patellar dislocation, Micrognathia, Hip dislocation, Ab... |
ORPHA:534 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Pes cavus, Gait disturbance, Scoliosis, Kyphosis |
OMIM:611225 |
Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Dilatation ... |
OMIM:600996 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Hypothyroidism, Low urinary cyclic AMP response to PTH administration, Elevate... |
OMIM:612462 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Small hand, Kyphosis, Hip dislocation, Hirsutism, Scoliosis, Short foot, Talipes equinovarus |
OMIM:300434 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic ... |
ORPHA:70588 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia, Death in infancy, Adducted thumb, Hypospadias, Respiratory failure, Neonatal death, Dea... |
OMIM:619334 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Short thumb |
OMIM:618453 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Recurrent urinary tra... |
OMIM:615559 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Central hypothyroidism, Broad foot, Tapered finger, 2-3 toe cutaneous syndactyly, Contracture of ... |
OMIM:300998 |
Achondroplasia |
|
Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension, Acanthosis nigricans... |
ORPHA:15 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration, Ataxia |
OMIM:266510 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormal glucose homeostasis, Inability to walk, Dyspnea, Cough, Respirator... |
ORPHA:90117 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Small for gestational ... |
OMIM:608154 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:617574 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Wide anterior fontanel, Micrognathia, Clinoda... |
OMIM:201170 |
Atelosteogenesis, Type Ii |
|
Respiratory insufficiency, Micrognathia, Pulmonary hypoplasia, Short neck, Limb undergrowth, Tali... |
OMIM:256050 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Joint stiffness, Cachexia |
ORPHA:1216 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Ichthyosis, Finger syndactyly, Kyphosis, Vertebral segmentation defect, Synostosis of c... |
ORPHA:1005 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Delayed puberty, Hypoglycemia, Osteopenia, Proteinuria, Osteoporosis |
ORPHA:369 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Tapered finger, Micrognathia, Hip dislocation, Hypoglycemia, Thick eyebrow, ... |
OMIM:616007 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Abnormal distal phalanx morpholo... |
ORPHA:2636 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:613000 |
Rett Syndrome |
|
Gait ataxia, Gait apraxia, Kyphosis, Intermittent hyperventilation, Truncal ataxia, Cachexia, Apn... |
OMIM:312750 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Tapered finger, Short foot, Kyphosis, Small hand, Inability to walk, Hypogon... |
OMIM:615547 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Cone-shaped epiphysis, Osteoporosis, Platyspondyly |
ORPHA:71267 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Pedal edema, Precocious puberty, Iris hypopigmentation, Decreased circula... |
ORPHA:398073 |
Geroderma Osteodysplastica |
|
Biconcave vertebral bodies, Abnormal bone ossification, Recurrent fractures, Hernia, Hip dislocat... |
ORPHA:2078 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Decreased body weight, Patchy hypo- and hyperpig... |
ORPHA:79474 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Ataxia, Osteoporosis, Recurrent aspiration pneumonia |
OMIM:619971 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyebrow, Areflexia of lower limbs, Nail dysplasia, Restrictive ventilatory defec... |
OMIM:615704 |
Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small hand, Small for ... |
ORPHA:254516 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs... |
OMIM:259420 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Urinary incontinence, Cachexia, Ataxia, Dysmetria |
OMIM:618093 |
Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow, Microretrognathia |
OMIM:600331 |
Osteogenesis Imperfecta |
|
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Dislocated radial head, Abnormal rib mor... |
ORPHA:666 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Long penis |
ORPHA:1672 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Unsteady gait, Anemia, Hypoglycemia |
OMIM:610090 |
Immunodeficiency 12 |
|
Osteoporosis |
OMIM:615468 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia |
ORPHA:701 |
Poems Syndrome |
|
Hypothyroidism, Thickened skin, Leukonychia, Sclerosis of foot bone, Clubbing of fingers, Primary... |
ORPHA:2905 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e... |
ORPHA:93359 |
Primary Ciliary Dyskinesia |
|
Asplenia, Respiratory tract infection, Respiratory failure, Productive cough, Bronchiectasis, Pol... |
ORPHA:244 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Ethylene Glycol Poisoning |
|
Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Renal insufficiency, Renal ... |
ORPHA:31826 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Kyphosis, Synophrys, Abnormal respiratory system physiology, Broad proximal phalan... |
ORPHA:505652 |
Occipital Horn Syndrome |
|
Coxa valga, Large iliac wing, Scarring, Hip dislocation, Osteolysis, Coarse hair, Short palm, Apl... |
ORPHA:198 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Ichthyosis, Abnormality of the nail, Honeycomb palmoplantar hyperkeratosis, Osteolysis,... |
ORPHA:494 |
Sandestig-Stefanova Syndrome |
|
Small for gestational age, Clinodactyly, Camptodactyly, Sparse medial eyebrow, Short neck, Latera... |
OMIM:618804 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Hypothyroidism, Short 5th finger, Cafe-au-lait spot, Microphallus, Small for gestati... |
ORPHA:397590 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia |
OMIM:614702 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Death in childhood, Recurrent respiratory infections |
OMIM:253300 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Bronchiectasis, Respiratory insufficiency due to defective cili... |
OMIM:615067 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Increased bone mineral density, Short humerus, Ankylosis, Hydroxyp... |
OMIM:239000 |
Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Riboflavin Transporter Deficiency |
|
Respiratory insufficiency, Diabetes insipidus, Hypogonadism, Iris hypopigmentation, Cachexia, Ata... |
ORPHA:97229 |
Dyskeratosis Congenita |
|
Premature graying of hair, Abnormal testis morphology, Neoplasm of the pancreas, Abnormal eyelash... |
ORPHA:1775 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Exertional dyspnea, Elevated urinary 3-hydroxybutyric acid, Cachexia, Dica... |
ORPHA:42 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Flexion contracture, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upp... |
ORPHA:88630 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Genu valgum, Decreased testicular size, Small pituitary gland, Osteoporosis, Osteopenia, Cryptorc... |
OMIM:614880 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Toe syndactyly, Micrognathia, Abnormality of the nail, Short hallux, Hyp... |
ORPHA:2710 |
Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Micrognathia, Spotty hyperpigmentation, Osteolysis, Rib osteolysis, Mandibul... |
OMIM:614008 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Clinodactyly of the 5th finger, Respiratory distress, Dyspnea, Joint hyperflexibili... |
ORPHA:2759 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Tapered finger, Cafe-au-lait spot, Kyphosis, Inability to walk, Hirsutism, ... |
OMIM:619255 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Small for gestational age, Apnea... |
OMIM:618253 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Proximal tubulopathy, Type I diabetes mellitus, Ataxia, Rickets, Failure ... |
OMIM:560000 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa valga, Recurrent fractures, Coxa vara, Joint hypermobility, Pes valgus, Bowing of the legs, ... |
OMIM:619131 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Alopecia, Small nail, Cafe-au-lait spot, Hallux valgus, Short metacarpal, Ichthyosis, Absent eyel... |
ORPHA:166035 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Coxa valga, Acroosteolysis of distal phalanges (feet), Micrognathia, Elbow f... |
OMIM:248370 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Premature graying of hair, Vertebral segmentation defect, Micrognathia, Alopecia of sca... |
ORPHA:2617 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Patent ductus arteriosus, Ankle clonus, Hydroureter, Large for gestational age, Ataxia, Hypoplasi... |
OMIM:615398 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Reduced hematocrit, Weight loss, Beta 2-microglobuli... |
ORPHA:91500 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Osteomalacia, Abnorma... |
ORPHA:1901 |
Kerion Celsi |
|
Alopecia, Lymphadenopathy |
ORPHA:499 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Respiratory insufficiency, Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased... |
OMIM:254090 |
Omenn Syndrome |
|
Short toe, Alopecia, Aplasia/Hypoplasia of the eyebrow, Thickened skin, Hypothyroidism, Anemia, N... |
ORPHA:39041 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Flexion contracture, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy |
ORPHA:79503 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, Pericardial effusion, ST segment depression, Congestive heart fail... |
OMIM:261740 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Increased susceptibility to fractures, Premature thelarche, Arthritis, Nodular goiter, Osteolysis... |
ORPHA:371428 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Onychauxi... |
OMIM:262190 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Femoral bowing, Short femur, Brachydactyly, ... |
ORPHA:440354 |
19P13.3 Microduplication Syndrome |
|
Hip subluxation, Pulmonary arterial hypertension, Precocious puberty, Micrognathia, Hip dysplasia... |
ORPHA:447980 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... |
OMIM:231070 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Neutropenia, Premature graying of hair, Urethral stricture, Palmoplantar hyperkeratos... |
OMIM:613989 |
Mirage Syndrome |
|
Decreased body weight, Adrenal insufficiency, Hypoglycemia, Thrombocytopenia, Talipes equinovarus... |
OMIM:617053 |
Hypomelanosis Of Ito |
|
Alopecia, Kyphosis, Clinodactyly, Hand polydactyly, Macular hypopigmented whorls, streaks, and pa... |
OMIM:300337 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Aplasia/Hypoplasia of the lungs, Hypospadias, Scoliosis, Ar... |
ORPHA:1548 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Ataxia, Apnea, Split hand, Respiratory failure, Neonatal death |
OMIM:610127 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Wide anterior fontanel, Small for gestational age, Decreased proportion... |
OMIM:617241 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Leukopenia, Acute myeloid leukemia, Refractory anemia |
OMIM:616871 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Truncal ataxia, Micrognathia, Broad eyebrow, Reduc... |
OMIM:264090 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Coxa vara, Short femoral neck, Lumbar hyperlordosis, Flattened femoral h... |
ORPHA:2848 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Clinodactyly, Pancytopenia, Syndactyly, Failure to thrive, Scoliosis, ... |
ORPHA:2169 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Aplasia/Hypoplasia of the eyebrow, Kyphosis, Toe syndactyly, Micrognathia, Apl... |
ORPHA:3082 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Tetrasomy 12P |
|
Sparse eyebrow, Cachexia, Short neck, Joint hyperflexibility, Sparse hair |
ORPHA:884 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Rhizomelia, Kyphosis, Wi... |
ORPHA:3098 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Respiratory insufficiency, Flexion contracture, Abnormal foot morphology, Micrognathia, Cachexia,... |
OMIM:618186 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Spastic ataxia, Cervical spondylosis, Gait disturbance, Kyphoscoliosis, Alopecia of sc... |
ORPHA:199354 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipos... |
ORPHA:363400 |
Axial Spondylometaphyseal Dysplasia |
|
Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater sciatic notch, Hypopl... |
ORPHA:168549 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... |
OMIM:609945 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy |
OMIM:611722 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Abdominal obesity, Increased s... |
ORPHA:739 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Kyphosis, Hyperextensibility of the finger joints, Frontal upsweep of h... |
OMIM:619797 |
Ring Chromosome 10 Syndrome |
|
Tapered finger, Micrognathia, Cachexia, Short neck, Sandal gap, Intrauterine growth retardation |
ORPHA:1438 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Toe syndactyly, Micrognathia, Elbow contracture, Broad hallux, Short h... |
OMIM:304120 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Micrognathia, Elbow flexion contracture, H... |
OMIM:245600 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Hallux valgus, Patel... |
ORPHA:536471 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr... |
OMIM:223800 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Urinary incontinence, Pulmonary arterial hypertension, Palmoplantar cutis laxa, Rh... |
OMIM:616482 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis, Reticular hyperpigmentation |
OMIM:615327 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Scoliosis, Ataxia |
ORPHA:363717 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Foot acroosteolysis, Abnormality of the knee, Tapered finger, Dystrophic toenail, ... |
ORPHA:970 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar ... |
OMIM:211350 |
Myopathic Ehlers-Danlos Syndrome |
|
Foot joint contracture, Flexion contracture, Tapered finger, Multiple joint contractures, Patella... |
ORPHA:536516 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Micrognathia, Bone marrow hypocellularity, Amelogenesis imperfecta, Aplas... |
OMIM:617052 |
Bethlem Myopathy 2 |
|
Flexion contracture, Kyphosis, Atrophic scars, Hip dislocation, Scoliosis, Distal joint laxity |
OMIM:616471 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Enamel hypoplasia, Cut... |
OMIM:613573 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Kyphosis, Elbow flexion contracture, Pr... |
OMIM:600175 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Increased circulating cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabe... |
OMIM:615830 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Long eyelashes, ... |
OMIM:617952 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Bulging of the costochondral junction, Sparse bone trabeculae, Hypophosphatemic... |
OMIM:241530 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Clinodactyly of the 5th finger, Hypoglycemia, Lower limb asymmetry, In... |
ORPHA:231147 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Chronic bronchitis, Metatarsus adductus, Short neck, Airway obstruction, Hir... |
OMIM:253220 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Decreased body weight, Small for gestational age, Clinodactyly of the 5th finger, Ne... |
ORPHA:231140 |
Laron Syndrome |
|
Short toe, Micrognathia, Hypoplasia of penis, Brachydactyly, Delayed puberty, Hypoglycemia, Trunc... |
ORPHA:633 |
H Syndrome |
|
Ichthyosis, Hallux valgus, Bronchiectasis, Camptodactyly, Hepatosplenomegaly, Osteolysis, Sclerod... |
ORPHA:168569 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Short femur, Scoliosis, Omphalocele, Amelia |
OMIM:601357 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Small for gestational age, Respiratory failure, Intrauterine growth retarda... |
OMIM:619057 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... |
ORPHA:785 |
Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular ... |
ORPHA:99931 |
Candidiasis, Familial, 1 |
|
Alopecia, Abnormality of the endocrine system |
OMIM:114580 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Inability to walk, Central sleep apnea, Ataxia, Failure to thrive, Hypopigmentation of hair, Resp... |
ORPHA:70472 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Congestive heart failure |
OMIM:605676 |
Myhre Syndrome |
|
Respiratory insufficiency, 2-3 toe syndactyly, Thickened skin, Camptodactyly, Overlapping toe, Sh... |
OMIM:139210 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... |
OMIM:616726 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hypopigmentation of the skin, Nephrotic syndrome, Abnormal foot morphol... |
OMIM:269920 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Frontal upsweep of hair, Short femur, Joint hypermobility, Cryptorchidism, Unsteady ... |
OMIM:617798 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Respiratory insufficiency, Inability to walk, Gait disturbance, Loss of ambulation, Hypoglycemia,... |
OMIM:618241 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... |
OMIM:265120 |
Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Decreased body weight, Cranium bifidum occultum, Absent eyelashes, Fail... |
ORPHA:2985 |
Premature Ovarian Failure 2B |
|
Delayed puberty, Osteoporosis |
OMIM:300604 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Scoliosis, ... |
OMIM:265900 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive, Osteolysis, Diabetes mellitus, Hyperkerat... |
ORPHA:3019 |
Mandibuloacral Dysplasia |
|
Alopecia, Hyperinsulinemia, Contractures of the large joints, Abnormality of skin pigmentation, A... |
ORPHA:2457 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hernia, Atrophic scars, Joint hypermobility, Kyphoscoliosis, Osteopenia, Follicular hyperkeratosi... |
ORPHA:300179 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation |
ORPHA:2576 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea, Acanthocytosis |
ORPHA:71 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Hypopigmentation of the skin, Precocious puberty, Ichthyosis, Recurrent fractures, Abno... |
OMIM:163200 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Flexion contracture, Tapered finger, Ataxia, Pes cavus, Dysmetria, Scoliosis, Steppa... |
OMIM:616505 |
Whipple Disease |
|
Respiratory insufficiency, Pedal edema, Hypothyroidism, Anemia, Arthritis, Pleuritis, Cachexia, I... |
ORPHA:3452 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Kyphosis, Brittle hair, Coarse hair, Scoliosis, Joint contracture of the... |
ORPHA:1883 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Splenomegaly, Inability to walk, Failure to thrive, Athetosis, Lymphadeno... |
OMIM:257200 |
Bronchogenic Cyst |
|
Back pain, Abnormal pleura morphology, Abnormality of the cervical spine, Pulmonary cyst, Abnorma... |
ORPHA:2357 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Hyperlordosis, Respiratory tract infection, Flexion contracture, Exert... |
ORPHA:365 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Dilatation of renal calices, 2-3 toe syndactyly, Truncal ataxia, Synophr... |
ORPHA:3455 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Palmoplantar cutis laxa, Hernia, Finge... |
ORPHA:363705 |
Prolidase Deficiency |
|
Genu valgum, Micrognathia, Abnormality of retinal pigmentation, Abnormal fingernail morphology, P... |
ORPHA:742 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Pituitary hypothyroidism, Childhood-onset truncal obesity, Hypopigmentation of the skin, Increase... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Pituitary hypothyroidism, Childhood-onset truncal obesity, Hypopigmentation of the skin, Increase... |
ORPHA:71526 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Nemaline Myopathy 8 |
|
Respiratory failure, Flexion contracture, Death in infancy |
OMIM:615348 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperlordosis, Splenomegaly, Flexion contracture, Hyperinsulinemia, Spinal rigidity, Insulin resi... |
OMIM:613327 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Urinary incontinence, Small for gestational age, Ventilator dependence w... |
OMIM:604320 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Polydactyly, 3-Methylglutaconic aciduria, Flexion contracture, Abnormal... |
ORPHA:17 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Absent tonsils, Absence of ... |
ORPHA:277 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Respiratory failure, Multiple joint contractures, ... |
ORPHA:70 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperlordosis, Broad foot, Hyperinsulinemia, Kyphosis, Keloids, Decreased testicular s... |
ORPHA:3085 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo... |
ORPHA:1008 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... |
OMIM:610913 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Thickened skin, Hepatosplenomegaly, Limb undergrowth, Hirsutism, Abnorma... |
ORPHA:354 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Small for gestational age, Clinodactyly of the 5th finger, Long eyelashes... |
ORPHA:231137 |
Post-Traumatic Pituitary Deficiency |
|
Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Oste... |
ORPHA:95619 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Increased circulating gonadotropin level, Lumbar hyperlordosis, Primary go... |
ORPHA:2232 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Fixed elbow flexion, Micrognathia, Fragmented ... |
ORPHA:166016 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Micrognathia, Insulin resistance, Male hypogonadism, Lipodystrophy, Diabetes mellitus, ... |
OMIM:615381 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Crackles, Multiple pulmonary cysts, Decreased DLCO, Wheezing, Weight loss, Enlarg... |
ORPHA:79128 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypogonadism, Hypoglycemia, Ataxia |
OMIM:616113 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Splenomegaly, Reduced natural killer cell count, Adrenocorticotropic h... |
OMIM:609981 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Hyperlordosis, Flexion contracture, Respiratory failure, Hypoventilatio... |
OMIM:310200 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... |
ORPHA:85451 |
Thanatophoric Dysplasia |
|
Respiratory insufficiency, Patent ductus arteriosus, Kyphosis, Hip dysplasia, Micromelia, Pulmona... |
ORPHA:2655 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Congenital contracture |
OMIM:225753 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... |
OMIM:602111 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Fryns-Smeets-Thiry Syndrome |
|
Patellar aplasia, Micrognathia, Cachexia, Hip dislocation, Scoliosis, Joint hyperflexibility, Ara... |
ORPHA:2058 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Hypothyroidism, Hypoplasia of the thymus, Patellar dislocation, Micrognathia, Short ... |
ORPHA:567 |
15Q24 Microdeletion Syndrome |
|
Broad eyebrow, High anterior hairline, Proximal placement of thumb, Cryptorchidism, Obesity, Myel... |
ORPHA:94065 |
Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Kyphosis, Impaired glucose tolerance, Increased circulating ACTH leve... |
OMIM:219090 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Thoracic kyphosis, Iris hypopigmentation, Abnormal intervertebral di... |
ORPHA:85194 |
Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar hyperhidrosis, Abnormal phalangeal joint morphology of the hand, Recurrent sinopulmo... |
ORPHA:498359 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Irregular hyperpigmentation, Multiple cafe-au-lait spots, Hyperkeratosis |
ORPHA:1336 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital knee dislocation, Increased susceptibility to fractures, Hallux valgus, Kyphosis, Atro... |
OMIM:130060 |
Donohue Syndrome |
|
Ovarian cyst, Precocious puberty, Hyperinsulinemia, Adipose tissue loss, Long penis, Pancreatic i... |
OMIM:246200 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Genu valgum, Decreased response to growth hormone stimulation test, Hip dislocation, Spinal canal... |
ORPHA:436174 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Camptodactyly, Pericardial lymphangiectasia, Syndactyly, Osteoporosis... |
OMIM:616006 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Delayed puberty, Osteopenia |
OMIM:615271 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Absence of secondary sex characteristics, Increased circulating gonadotropin... |
ORPHA:2410 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Congenital alopecia totalis, Ridged nail, T lymphocytopenia, Nail pits |
ORPHA:169095 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Diffuse reticular or finely nodular infiltrations, Respiratory tract infection, Chronic bronchiti... |
ORPHA:79127 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture, Reduced maximal expirato... |
ORPHA:610 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Femoral bowing, Osteopenia, Scoliosis, Platyspondyly, Osteoporosis |
OMIM:126550 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Small hand, Kyphosis, Short metacarpal, Synostosis of carpal bones, Hematu... |
ORPHA:3121 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Severe B lymphocytopenia,... |
OMIM:603554 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Short hallux, Talipes equinovarus, Abnormal form of the vertebral bodies, Sacral di... |
ORPHA:280 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Respiratory insufficiency, Hypoplasia of the thymus, Hepatosplenomegaly, Panniculitis, Thrombocyt... |
OMIM:612541 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Female hypogonadism, Generalized joint laxity, Absence of secondary sex charact... |
ORPHA:432 |
Cln3 Disease |
|
T-wave inversion, Left ventricular hypertrophy, Bradycardia |
ORPHA:228346 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Renal tubular dysfu... |
OMIM:606528 |
Diamond-Blackfan Anemia 7 |
|
Triphalangeal thumb, Vesicoureteral reflux, Patent ductus arteriosus, Intrauterine growth retarda... |
OMIM:612562 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Hip dislocation, Short neck, Flattened, squared-off epiphyses of tubul... |
OMIM:156550 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Abnormal vertebral m... |
ORPHA:3224 |
Hemochromatosis, Type 1 |
|
Alopecia, Splenomegaly, Glucose intolerance, Azoospermia, Pleural effusion, Testicular atrophy, D... |
OMIM:235200 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpigmentation,... |
ORPHA:79399 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Spastic gait, Ataxia, Elevated circulating creatine kina... |
ORPHA:96180 |
Juvenile Paget Disease |
|
Melanocytic nevus, Recurrent fractures, Coarse metaphyseal trabecularization, Abnormality of reti... |
ORPHA:2801 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Tenorio Syndrome |
|
Gait disturbance, Joint laxity, Apnea, Recurrent pneumonia, Hypoglycemia, Scoliosis, Osteopenia, ... |
OMIM:616260 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Hyperlordosis, Pulmonary arterial hypertension, Flexion contracture, D... |
ORPHA:258 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:223500 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Testicular microlithiasis, Pneumothorax, Bronchiectasis, Clubbing of f... |
ORPHA:60025 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Lower-limb joint contracture, Tip-toe gait, Inability to walk, Cachexia, At... |
ORPHA:300605 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis, Palmoplantar blistering |
OMIM:131800 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture, Kyphosis, Small for gestational age, Adducted thumb, Flexion contracture of ... |
OMIM:618484 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Tbck-Related Intellectual Disability Syndrome |
|
Respiratory insufficiency, 2-3 toe syndactyly, Hypothyroidism, Inability to walk, Synophrys, Shor... |
ORPHA:488632 |
Schimke Immunoosseous Dysplasia |
|
Short neck, Ovoid vertebral bodies, Coarse hair, Thrombocytopenia, Talipes equinovarus, Lumbar hy... |
OMIM:242900 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Splenomegaly, Osteoporosis |
ORPHA:79301 |
Silver-Russell Syndrome 1 |
|
Cafe-au-lait spot, Decreased response to growth hormone stimulation test, Short middle phalanx of... |
OMIM:180860 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Alopecia, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Dec... |
OMIM:203800 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Keloids, Alopecia universalis, Tricho... |
ORPHA:2890 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Micrognathia, Sparse eyelashes, Short palm, Sparse hair, Talipes equin... |
OMIM:268400 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Respiratory insufficiency, Hyperlordosis, Increased adipose tissue, Tip-toe gait, Kyphosis, Spina... |
OMIM:617404 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Coxa valga, Hernia, Kyphosis, Grayish enamel, Spinal canal stenosis, ... |
ORPHA:582 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Leigh Syndrome |
|
Respiratory insufficiency, Pigmentary retinopathy, Hepatocellular necrosis, Ataxia, Failure to th... |
OMIM:256000 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Death in infancy, Abnormality of the pulmonary ar... |
ORPHA:1354 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Bulging of the costochondral junction, Sparse bone trabeculae, Secondary hyperp... |
OMIM:264700 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Brittle Cornea Syndrome |
|
Increased susceptibility to fractures, Hernia, Hallux valgus, Abnormality of hair pigmentation, H... |
ORPHA:90354 |
Immunodeficiency 27A |
|
Pulmonary infiltrates, Anemia, Weight loss, Hepatosplenomegaly, Hypoplasia of the femoral head, A... |
OMIM:209950 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... |
ORPHA:93307 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Recurrent aspiration pneumonia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Hepatosplenomegaly, Hypoparathyroidism, Splenomegaly, Genu... |
ORPHA:231226 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... |
ORPHA:2777 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:607765 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa vara, Rhizomelia, Short... |
OMIM:608940 |
Ruvalcaba Syndrome |
|
Short phalanx of finger, Short foot, Kyphosis, Short metacarpal, Small hand, Micromelia, Inguinal... |
OMIM:180870 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
Atelosteogenesis Type Iii |
|
Short tibia, Respiratory insufficiency, Abnormal cervical curvature, Vertebral hypoplasia, Short ... |
ORPHA:56305 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Flexion contracture, Elbow flexion contracture, Thickene... |
ORPHA:3206 |
8Q24.3 Microdeletion Syndrome |
|
Short 5th finger, Short femur, Spina bifida occulta, Cervical ribs, Short hallux, Short neck, Bra... |
ORPHA:508488 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Kyphosis, Hypogonadism, Synophrys, Hypoplasia of penis, Spina bifida occulta, Short ... |
ORPHA:2983 |
Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Delayed femoral head ossification, Hypoplastic ... |
OMIM:607326 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Spotty hyperpigmentation, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increased corti... |
ORPHA:189439 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Kyphosis, Failure to thrive, Neonatal death, Intrauterine growth retardation |
OMIM:618237 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Respiratory insufficiency, Splenomegaly, Neurogenic bladder, Death in infancy, Micrognathia, Intr... |
OMIM:608779 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Leukopenia, Anemia, Premature graying of hair, Interstitial pneumonitis, Hepatic necros... |
OMIM:127550 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Patellar dislocation, Epiphyseal stippling, Short neck, Sparse eyelashes, Bilateral talipes equin... |
OMIM:302960 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Failure to thrive, Short neck, Scoliosis, Hyperkeratosis, Reduced bone mineral density |
OMIM:615279 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Splenomegaly, Generalized bronze hyperpigmentation, Weight loss, Hyperglycemia, S... |
ORPHA:465508 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory insufficiency, Tapered finger, Tapered toe, Elbow flexion contracture, Hypoglycemia, ... |
OMIM:608836 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Small for gestational age, Micrognathia, Clinodactyly of the 5th finger, Inguinal herni... |
OMIM:615834 |
Propionic Acidemia |
|
Anemia, Pancytopenia, Apnea, Failure to thrive, Hypoglycemia, Increased level of hippuric acid in... |
OMIM:606054 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... |
OMIM:600081 |
Sjögren-Larsson Syndrome |
|
Ichthyosis, Kyphosis, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Scolios... |
ORPHA:816 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Alopecia, Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnormal testis morphology, A... |
ORPHA:457059 |
Kury-Isidor Syndrome |
|
Sacral dimple, Alopecia, Finger syndactyly, Hip dysplasia, Brachydactyly, Short neck, Scoliosis, ... |
OMIM:619762 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Pycnodysostosis |
|
Increased bone mineral density, Micrognathia, Abnormality of the nail, Hepatosplenomegaly, Nail d... |
ORPHA:763 |
Smith-Kingsmore Syndrome |
|
Curly hair, Cafe-au-lait spot, Rhizomelia, Wide anterior fontanel, Large for gestational age, Sho... |
OMIM:616638 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility, Sc... |
OMIM:300831 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Respiratory distress, Failure to thrive, Cough, Recurrent ... |
OMIM:263000 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Abnormality of skin pigmentation |
ORPHA:315 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Cachexia, Ataxia, Methylmalonic aciduria, Generalized hirsutism |
ORPHA:1933 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Death in infancy, Rhizomelia, M... |
ORPHA:163966 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Diabetes mellitus, Osteoporosis, Absence of pubertal development, Cryp... |
OMIM:610628 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Alpha-Mannosidosis |
|
Kyphosis, Arthritis, Hypoplastic inferior ilia, Hip dysplasia, Craniofacial hyperostosis, Type II... |
ORPHA:61 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Lumbar h... |
ORPHA:93315 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Distal femoral bowi... |
ORPHA:457395 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Ivory epiphyses of the phalanges of the hand, Abnormal hair ... |
OMIM:133540 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Spinal rigidity, Joint laxity, Pes valgus, Delayed puberty, Scoliosi... |
ORPHA:486815 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Respiratory distress, Failure to thrive, Ethylmalonic aciduria, Intrauterin... |
ORPHA:26792 |
Eec Syndrome |
|
Hypoplasia of the thymus, Toe syndactyly, Anterior hypopituitarism, Coarse hair, Ectrodactyly, Th... |
ORPHA:1896 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Fa... |
OMIM:618534 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acut... |
OMIM:619824 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Decreased testicular size, Clinodactyly, Osteoporosis, Hypogonadotropic hypogonadism, Micropenis |
OMIM:614838 |
Sandhoff Disease |
|
Kyphosis, Ataxia, Failure to thrive, Recurrent respiratory infections, Splenomegaly |
ORPHA:796 |
Aromatase Deficiency |
|
Genu valgum, Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Eunuchoi... |
ORPHA:91 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Cachexia, Pneumonia, Splenomegaly, Alopecia, Osteomyelitis, Thyroiditis, Respirat... |
ORPHA:37042 |
Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia |
ORPHA:314802 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Hyperinsulinemic hypoglycemia, Hirsutism, Acanthosis nigricans, Thrombocyt... |
ORPHA:2298 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Elbow flexion contracture, Flared iliac wing, Irregular capital femoral epiphysis, Short neck, Ir... |
OMIM:184252 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, 3-Methylglutaconic aciduria, Flexion contracture, Death in infancy, Hypo... |
ORPHA:1194 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin, Recurrent hypoglycemia |
OMIM:609197 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Failure to thrive, Ataxia, Kyphosis, Hip dysplasia |
OMIM:620007 |
Mucopolysaccharidosis Type 6 |
|
Genu valgum, Hernia, Kyphosis, Epiphyseal dysplasia, Failure to thrive, Short neck, Ovoid vertebr... |
ORPHA:583 |
Trisomy 18 |
|
Camptodactyly of finger, Omphalocele, Hernia, Abnormal rib morphology, Spina bifida, Anencephaly,... |
ORPHA:3380 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Cachexia, Recurrent respiratory infections, Microretrognathia |
ORPHA:1389 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anemia, Cachexia, Clubbing of fingers, Clubbing, Nail dysplasia, Hyperpigmentation of t... |
OMIM:175500 |
Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Hyperostosis frontalis interna, Abnormality of the endocrine system, Diabetes mel... |
ORPHA:77296 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hyperlordosis, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Finger syndactyly... |
ORPHA:3253 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Short palm, Short toe, Cone-shaped metac... |
OMIM:250215 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Respiratory insufficiency, Meningocele, Spina bifida occulta, Abnormalit... |
ORPHA:2311 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased susceptibility to fractures, Alopecia, Hyperaldosteronism, Increased circulating cortis... |
ORPHA:189427 |
Menkes Disease |
|
Thickened skin, Osteomyelitis, Recurrent fractures, Chondrocalcinosis, Hernia, Micrognathia, Blad... |
ORPHA:565 |
Trisomy 20P |
|
Camptodactyly of finger, Micrognathia, Abnormality of the ureter, Short neck, Coarse hair, Thick ... |
ORPHA:261318 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, T... |
ORPHA:2839 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Squared-off platyspondyly, Hepatosplenomegaly, Premature osteoarthritis, Short neck, Limb undergr... |
ORPHA:93352 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Arrhythmia |
OMIM:609286 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Treacher-Collins Syndrome |
|
Respiratory insufficiency, Patent ductus arteriosus, Encephalocele, Hypoplasia of the thymus, Abs... |
ORPHA:861 |
Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Increased connective tissue, Pulmonary hypoplasia, Arthrogryposis multiplex ... |
ORPHA:171430 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis of vertebrae, Short mi... |
OMIM:156510 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Kyphosis, Small for gestational age, Micrognathia, Abnormal foot m... |
ORPHA:352490 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Synophrys, Gait disturbance, Scoliosis, Truncal obesity, Low posterior hairline, Thick ... |
ORPHA:2429 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Respiratory insufficiency, Flexion contracture, Kyphosis, Clinodactyly, Short neck, Scoliosis, Re... |
ORPHA:178148 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Osteoporosis, Hemorrhagic ovarian cyst, Osteopenia |
ORPHA:397685 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Cerebral ischemia, ... |
ORPHA:1880 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Iris hypopigmentation, Failure to thrive, Hypoglycemia, Thrombocytop... |
ORPHA:67048 |
Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Cachexia, Abnormal rib morphology, Abnormality of the spleen, Abnormal... |
ORPHA:93941 |
Pneumocystosis |
|
Respiratory insufficiency, Parenchymal consolidation, Exertional dyspnea, Weight loss, Combined c... |
ORPHA:723 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... |
ORPHA:1330 |
Classic Galactosemia |
|
Gait imbalance, Gait disturbance, Abnormal erythrocyte enzyme level, Ataxia, Delayed puberty, Dec... |
ORPHA:79239 |
Porphyria Cutanea Tarda |
|
Alopecia, Porphyrinuria, Onycholysis, Scleroderma, Facial hypertrichosis, Hyperpigmentation in su... |
OMIM:176100 |
Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Hepatosplenomegaly, Hypoparathyroidism, Splenomegaly, Genu... |
ORPHA:231214 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Left ventricular diastolic dysfunction, Pulmo... |
OMIM:620067 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Porokeratosis Of Mibelli |
|
Porokeratosis, Hyperkeratosis |
ORPHA:735 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Anemia, Myeloid leukemia, Premature graying of hair, Clubbing of fingers, Usual interstitial pneu... |
OMIM:614742 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Multipl... |
OMIM:616867 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Death in infancy, Adrenal insufficiency, Lacticaciduria, Hypoglycemia, Respiratory... |
OMIM:619386 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Toe syndactyly, Abnormality of the nail, Abnormal dental enamel morpholo... |
ORPHA:2092 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Horizontal sacrum, Kyphosis, Lateral femoral bowing, Scoliosis, Fibular b... |
OMIM:112350 |
Pontocerebellar Hypoplasia Type 1 |
|
Congenital laryngeal stridor, Ataxia, Failure to thrive, Respiratory failure, Arthrogryposis mult... |
ORPHA:2254 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Intrauterine growth retardation, Respiratory failure, Beta-aminoisobut... |
OMIM:615330 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Micrognathia, Preaxial foot polydact... |
OMIM:277170 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Dyspne... |
ORPHA:352447 |
Alg1-Cdg |
|
Kyphosis, Nephrotic syndrome, Limitation of joint mobility, Scoliosis, Respiratory failure, Renal... |
ORPHA:79327 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Inability to walk, Choreoathetosis, ... |
OMIM:208900 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Long eyelashes, Cystinuria, Failure to thrive, Hypoglycemia, Nephrolithiasis |
ORPHA:163693 |
Satoyoshi Syndrome |
|
Hyperlordosis, Abnormality of the knee, Genu varum, Tapered finger, Sparse or absent eyelashes, A... |
ORPHA:3130 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Areflexia of lower limbs, Ataxia, Pes cavus, Loss of ambulation, Scoliosis, Split hand,... |
OMIM:618124 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Hypoplastic ilia, Short ribs, Hypoplasia of the radius, Respiratory distress, Pu... |
OMIM:617895 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Neutropenia, Eosinophilia |
OMIM:257100 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... |
OMIM:618156 |
Intermediate Nemaline Myopathy |
|
Flexion contracture, Multiple prenatal fractures, Difficulty walking, Respiratory failure, Arthro... |
ORPHA:171433 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II ... |
ORPHA:100 |
3M Syndrome |
|
Horizontal ribs, Short neck, Abnormal metaphysis morphology, Thick eyebrow, Rocker bottom foot, A... |
ORPHA:2616 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Small hand, Kyphosis, Hypogonadism, Decreased testicular size, Joint laxity, Pes cav... |
OMIM:300354 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Enlar... |
OMIM:613091 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Lethal Acantholytic Erosive Disorder |
|
Absent hair, 2-3 finger syndactyly, 4-5 finger syndactyly, Absent fingernail, Camptodactyly of to... |
ORPHA:158687 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Pigmentary retinopathy |
OMIM:609016 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus, Death in infancy, Failure to thrive, Difficulty walking, Amelogenesis i... |
OMIM:612782 |
Osteogenesis Imperfecta, Type Xxii |
|
Thin bony cortex, Dentinogenesis imperfecta, Recurrent fractures, Pseudoarthrosis, Slender long b... |
OMIM:619795 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Costello Syndrome |
|
Hypoplastic toenails, Thickened Achilles tendon, Ulnar deviation of finger, Deep-set nails, Gener... |
ORPHA:3071 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Limited elbow movement, Kyphosis, Joint contracture of the hand, Hallux valgus, Synophrys, Disloc... |
OMIM:300280 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Narrow pelvis bone, Truncal obesity, Limited elbow extension, Pseudoepiphyses... |
OMIM:210720 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Short foot, Small hand, Iris hypopigmentation, Abnormal ulnar metap... |
ORPHA:177910 |
Staphylococcal Necrotizing Pneumonia |
|
Pulmonary infiltrates, Leukopenia, Parenchymal consolidation, Pneumothorax, Pleural empyema, Neut... |
ORPHA:36238 |
Cartilage-Hair Hypoplasia |
|
Respiratory insufficiency, Spinal dysraphism, Abnormal distal phalanx morphology of finger, Short... |
ORPHA:175 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Urinary urgency, Down-sloping shoulders, Pes cavus, Intercostal muscle weak... |
OMIM:606071 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Rothmund-Thomson Syndrome |
|
Abnormal trabecular bone morphology, Metaphyseal striations, Abnormality of the nail, Alopecia to... |
ORPHA:2909 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Irregular hyperpigmentation, Neoplasm of the adrenal cortex, Thyroid carcinoma, Micrognathia, Cac... |
ORPHA:109 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thin bony cortex, Sparse eyebrow, Recurrent fractures, Hyperextensibility of the finger joints, S... |
OMIM:309583 |
Neuropathy, Hereditary Sensory, Type If |
|
Osteolytic defects of the phalanges of the hand, Osteomyelitis, Hallux valgus, Metatarsal fractur... |
OMIM:615632 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Melanocytic nevus, Reduced subcutaneous adipose tissue, Small pituitary gland, Kyphosco... |
OMIM:612079 |
Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Hypogonadism, Micrognathia, Early balding, Abnormal pelvic girdle bone ... |
ORPHA:2067 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the knee, Chondrocalcinosis, Abnormal hip joint morphology, Abnormality of the ank... |
ORPHA:66627 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Alopecia, Brittle hair, Posterior pituitary hypoplasia, In... |
ORPHA:75389 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Urinary incontinence, Sparse eyebrow, Neurogenic bladder, Micrognathia, Ataxia, Congenital hip di... |
ORPHA:496641 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Hypothyroidism, Splenomegaly, Cafe-au-lait spot, Trichorrhexis nodosa, ... |
ORPHA:84064 |
Idiopathic Achalasia |
|
Bronchitis, Recurrent aspiration pneumonia, Weight loss, Cough, Wheezing |
ORPHA:930 |
Catel-Manzke Syndrome |
|
Short toe, Genu valgum, Short metacarpal, Micrognathia, Thin eyebrow, Camptodactyly, Joint laxity... |
OMIM:616145 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Hip subluxation, Patellar dislocation, Elbow flexion contracture, Hip dislocation, Congenital bil... |
ORPHA:1900 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Alg12-Cdg |
|
Micrognathia, Camptodactyly, Thrombocytopenia, Talipes equinovarus, Small nail, Proximal placemen... |
ORPHA:79324 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Flexion contracture, Elbow flexion contracture, Hip dislocation, Fine hair, Inguinal hernia, Oste... |
OMIM:614438 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Tibial bowing, Fe... |
ORPHA:93356 |
Cranioectodermal Dysplasia 1 |
|
Stage 1 chronic kidney disease, Thin nail, Radial deviation of finger, Flattened epiphysis, Renal... |
OMIM:218330 |
Arthrogryposis, Distal, Type 4 |
|
Distal arthrogryposis, Tibial deviation of toes, Lumbar scoliosis, Kyphosis, 2-5 finger cutaneous... |
OMIM:609128 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Dextrotransposition of the great arteries, Left ventricular outflow tract obstruction, Ventricula... |
ORPHA:860 |
Campomelic Dysplasia |
|
Short phalanx of finger, Spinal dysraphism, Hallux valgus, Micrognathia, Hip dislocation, Metatar... |
OMIM:114290 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Carcinoma Of Esophagus |
|
Lymphadenopathy, Obesity, Cough, Weight loss |
ORPHA:70482 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Impaired glucose tolerance, Glycosuria, Hyperphosphaturia, Generalized am... |
ORPHA:2088 |
Occipital Horn Syndrome |
|
Genu valgum, Coxa valga, Pili torti, Capitate-hamate fusion, Kyphosis, Coarse hair, Broad ribs, B... |
OMIM:304150 |
Thanatophoric Dysplasia Type 2 |
|
Respiratory insufficiency, Patent ductus arteriosus, Encephalocele, Kyphosis, Aplasia/Hypoplasia ... |
ORPHA:93274 |
X-Linked Agammaglobulinemia |
|
Alopecia, Anemia, Osteomyelitis, Weight loss, Cellulitis, Arthritis, Abnormality of the lymphatic... |
ORPHA:47 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Anemia, Micrognathia, Synophrys, Talipes equinovarus, Clinodactyly of t... |
OMIM:300990 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration |
OMIM:618328 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irregulari... |
OMIM:307800 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Knee dislocation, Sacral dimp... |
ORPHA:536532 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Supernumerary nipple, Abnormality of the nail, Spina bifida occulta, Ost... |
ORPHA:464 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Respiratory insufficiency, Advanced ossification of carpal bones, Decreased body weight, Hip disl... |
OMIM:615349 |
Cockayne Syndrome |
|
Inability to walk, Reduced subcutaneous adipose tissue, Cachexia, Difficulty walking, Splenomegal... |
ORPHA:191 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
Tuberculosis |
|
Cough, Weight loss, Abnormal lung morphology |
ORPHA:3389 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Respiratory insufficiency, Coxa valga, Micrognat... |
ORPHA:2484 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Respiratory insufficiency, Protrusio acetabuli, Arachnodactyly, Palmoplantar cutis laxa, Progress... |
OMIM:225400 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... |
OMIM:262400 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Broad ribs, Fused cervical vertebrae, Neutrophilia, Respiratory distress, Osteolys... |
OMIM:612852 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis |
OMIM:204730 |
Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Alopecia, Genu valgum, Short metacarpal, Alopeci... |
OMIM:600705 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Melanocytic nevus, Pili torti, Brittle hair, Fine hair, Freckling, Hyperkerato... |
ORPHA:1573 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Micrognathia, Synophrys, Hypospadias, Scoliosis, Sandal g... |
OMIM:615761 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
Spondyloepiphyseal Dysplasia Congenita |
|
Delayed calcaneal ossification, Hip dislocation, Short neck, Ovoid vertebral bodies, Flattened ep... |
OMIM:183900 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Hypothyroidism, Abnormal trabecular bone morphology, Metaphyseal striati... |
ORPHA:221008 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Mandibular aplasia, Micrognathia, Breast aplasia, Abnormal rib morpholog... |
ORPHA:2554 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Nephritis |
OMIM:127350 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Hypogonadism, Generalized hyperpigmentation, Diabet... |
ORPHA:79230 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Scedosporiosis |
|
Bronchitis, Septic arthritis, Apical pulmonary opacity, Osteomyelitis, Pleural empyema, Pleuritis... |
ORPHA:449280 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Micrognathia, Hip dislocation, Front... |
OMIM:309350 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... |
OMIM:301082 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsor... |
ORPHA:2197 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Thickened skin, Kyphosis, Abnormal metacarpal morphology, Clinodactyly o... |
ORPHA:137834 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Micrognathia, Synophrys, Hip dislocation, Congenital kyphoscoliosis, Diffic... |
ORPHA:536545 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Flexion contracture, Kyphosis, Spinal rigidity, Short neck, Scoliosis, Respiratory... |
OMIM:300718 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Pulmonary arterial hypertension, Thickened skin, Kyphosis, Micrognathia,... |
OMIM:607015 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Hypoplastic fingernail, Short neck, Short palm, Narrow ... |
OMIM:228520 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Flexion contracture, Recurrent respiratory infections, Increased connective tissue, Abnormal resp... |
ORPHA:98905 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Plantar hyperkeratosis |
OMIM:616487 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Alopecia, Leukopenia, Encephalocele, Finger syndactyly, Pulmonar... |
ORPHA:974 |
Marinesco-Sjogren Syndrome |
|
Gait ataxia, Flexion contracture, Coxa valga, Kyphosis, Short metacarpal, Limb ataxia, Ataxia, Fa... |
OMIM:248800 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Masa Syndrome |
|
Hyperlordosis, Shuffling gait, Kyphosis, Adducted thumb, Pes cavus, Talipes equinovarus |
OMIM:303350 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Kyphosis, Spinal rigidity, Joint hypermobility, Scoliosis |
OMIM:618323 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Enamel hypoplasia, Proximal tubulopathy, Splenomegaly, Death in infancy... |
OMIM:614576 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Respiratory insufficiency, Recurrent fractures, Small for gestational age, A... |
OMIM:166210 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs,... |
OMIM:263520 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Abnormal trabecular bone morphology, Metaphyseal striations, Alopecia to... |
ORPHA:221016 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Nail dysplasia, Sparse hair, Hypoplastic sacrum, Short metatarsal, Small nail, Shor... |
OMIM:614813 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Hypopigmented skin patches, Lymph... |
ORPHA:2584 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Nephrotic syndrome, Abnormal foot morphology, Iris hypopigmenta... |
ORPHA:834 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:52416 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Genu valgum, Broad long bone diaphyses, Tapered finger, Hypopigmentation of the sk... |
OMIM:301066 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ich... |
OMIM:242300 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Tapered finger, Decreased testicular size, Congenital abnormal hair pattern, Spotty hyp... |
ORPHA:1867 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Tubulonodular pericallosal lipoma, Patellar hypoplasia, Encephalocele, ... |
OMIM:603671 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Beta-Thalassemia Intermedia |
|
Hypothyroidism, Adrenal insufficiency, Hepatosplenomegaly, Hypoparathyroidism, Splenomegaly, Redu... |
ORPHA:231222 |
Poland Syndrome |
|
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... |
ORPHA:2911 |
Mucolipidosis Type Ii |
|
Thickened skin, Inability to walk, Hip dislocation, Hepatosplenomegaly, Splenomegaly, Talipes equ... |
ORPHA:576 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy |
OMIM:232700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Alaninuria |
OMIM:615158 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
Marfan Syndrome |
|
Meningocele, Protrusio acetabuli, Limited elbow movement, Kyphosis, Micrognathia, Cachexia, Pulmo... |
ORPHA:558 |
Short Syndrome |
|
Alopecia, Weight loss, Insulin resistance, Inguinal hernia, Lipodystrophy, Diabetes mellitus, Joi... |
ORPHA:3163 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Failure to thrive, Severe B lymphocy... |
OMIM:102700 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... |
OMIM:259440 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Abnormal resp... |
ORPHA:922 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Choreoathetosis, Episodic ataxia, Apneic episodes precipitated by illn... |
OMIM:312170 |
Gracile Bone Dysplasia |
|
Asplenia, Death in infancy, Failure to thrive, Hypoplastic spleen, Micropenis |
OMIM:602361 |
Carpenter Syndrome |
|
Patent ductus arteriosus, Polydactyly, Genu valgum, Umbilical hernia, Finger syndactyly, Toe synd... |
ORPHA:65759 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short 4th metacarpal, Melanocytic nevus, Micrognathia, Increased circulating gonadotropin level, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Short 4th metacarpal, Melanocytic nevus, Micrognathia, Increased circulating gonadotropin level, ... |
ORPHA:99228 |
Monosomy X |
|
Short 4th metacarpal, Melanocytic nevus, Micrognathia, Increased circulating gonadotropin level, ... |
ORPHA:99226 |
Turner Syndrome |
|
Short 4th metacarpal, Melanocytic nevus, Micrognathia, Increased circulating gonadotropin level, ... |
ORPHA:881 |
Aggressive Systemic Mastocytosis |
|
Anemia, Neutropenia, Weight loss, Leukemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Oste... |
ORPHA:98850 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal... |
ORPHA:1329 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Renal insufficiency, Increased body weight |
ORPHA:890 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Respiratory failure, Central sleep apnea, Apnea, Split hand, Neonatal respiratory distress |
ORPHA:168486 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Splenomegaly, Radial bowing, Micrognathia, Pulmonary hypoplasia, Lower limb undergro... |
ORPHA:3035 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular septal hypertro... |
ORPHA:263297 |
Abetalipoproteinemia |
|
Gait ataxia, Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Reticulocytosis... |
ORPHA:14 |
Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Pneumothorax, Humeroradial synostosis, Micrognathia, Pulmonary hyp... |
ORPHA:3404 |
Neu-Laxova Syndrome |
|
Broad foot, Flexion contracture, Ichthyosis, Hypogonadism, Osteomalacia, Spina bifida, Micrognath... |
ORPHA:2671 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Alopecia, Hypoplastic toenails, Sparse scalp hair, Anemia, Fingernail dysplasi... |
ORPHA:2325 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Genu varum, Enlargement of the costochon... |
ORPHA:289157 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Camptodactyly, Broad hallux, Limb undergrowth, Ovoid verte... |
OMIM:618019 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Lowry-Maclean Syndrome |
|
Micrognathia, Generalized hypertrichosis, Bilateral cryptorchidism, Inguinal hernia, Hypospadias,... |
ORPHA:2409 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Kyphosis, Abnormal pelvic girdle bone morphology, Hypopigmented ski... |
ORPHA:2115 |
Campomelic Dysplasia |
|
11 pairs of ribs, Respiratory insufficiency, Tracheobronchomalacia, Recurrent fractures, Kyphosis... |
ORPHA:140 |
Leigh Syndrome |
|
Multiple joint contractures, Choreoathetosis, Frontal hirsutism, Lacticaciduria, Hypoglycemia, Ab... |
ORPHA:506 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Urinary incontinence, Kyphosis, Hip dislocation, Ataxia, Puberty and gonadal disorders, Abnormali... |
ORPHA:464282 |
Clark-Baraitser syndrome |
|
Macroorchidism, Genu valgum, Tapered finger, Kyphosis, Joint laxity, Scoliosis, Short palm, Obesi... |
OMIM:300602 |
Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Gait disturbance, Ataxia, Dysmetria, Increased LDL cholesterol concentration,... |
OMIM:277460 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Nail dys... |
OMIM:601705 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Kyphosis, Decreased testicular size, Abnormality of the ovary, Gait disturbance, Jo... |
ORPHA:1875 |
Tetanus |
|
Tachycardia, Bradycardia, Hypertension |
ORPHA:3299 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Osteomyelitis, Weight loss, Arthritis, Abnormal vertebral morphology, Osteolysis, Craniof... |
ORPHA:324964 |
Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Brittle hair, Abnormal foot morphology, Palmoplantar hyperk... |
OMIM:129500 |
Hurler Syndrome |
|
Flexion contracture, Coxa valga, Flared iliac wing, Hepatosplenomegaly, Hypoplasia of the femoral... |
OMIM:607014 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperlordosis, Wide anterior fontanel, Inability to walk, Polycystic kidney dysplasia, Lacticacid... |
ORPHA:26791 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Respiratory insufficiency, Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Micrognathia, Atlantoaxial dislocation, Flared iliac wing, Camptodac... |
OMIM:252500 |
Analbuminemia |
|
Patent ductus arteriosus, Lipodystrophy, Recurrent lower respiratory tract infections, Osteoporosis |
OMIM:616000 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Avian Influenza |
|
Pulmonary infiltrates, Leukopenia, Pneumothorax, Productive cough, Acute kidney injury, Hypoxemia... |
ORPHA:454836 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Allergic rhinitis,... |
ORPHA:90368 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hip subluxation, Anemia, Respiratory failure, Increased bone mineral density, Micrognathia, Extra... |
OMIM:259720 |
Cartilage-Hair Hypoplasia |
|
Fair hair, Limited elbow extension, Sparse eyelashes, Short palm, Sparse hair, Lumbar hyperlordos... |
OMIM:250250 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... |
ORPHA:33445 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Scarring, Hyperkeratosis, Thickened skin, Patchy alopecia |
OMIM:247100 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... |
ORPHA:99104 |
Thrombocytopenia-Absent Radius Syndrome |
|
Coxa valga, Patellar dislocation, Micrognathia, Hip dislocation, Cervical ribs, Phocomelia, Throm... |
ORPHA:3320 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Tapered finger, Scoliosis, Kyphosis |
ORPHA:276630 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Micrognathia, Narrow pelvis bone, Pulmonary hypoplasia, Hypoplastic fi... |
OMIM:608022 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Small nail, Sparse scalp hair, Palmoplantar hyperkeratosis, Pancytopenia, Hyperpigmentation of th... |
OMIM:224230 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Curly hair, Palmoplantar cutis laxa, Large for gestational age, Pleural... |
OMIM:615355 |
Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Hypogonadism, Brittle ... |
ORPHA:202 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Finger syndactyly, Kyphosis, Synophrys, Clinodactyly of the 5... |
ORPHA:254346 |
Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Ungual fibroma, Pneumothorax, Abnormality of skin pigmentation, Renal angi... |
ORPHA:538 |
Cardiofaciocutaneous Syndrome 1 |
|
Curly hair, Multiple plantar creases, Ichthyosis, Hyperextensibility of the finger joints, Absent... |
OMIM:115150 |
Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Cafe-au-lait spot, Wide anterior fontanel, Kyphosis, Short long bone, An... |
OMIM:249420 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Anemia, Hemolytic anemia, Weight loss, Stage 5 chronic kidney disease, Intrauteri... |
OMIM:619487 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Short phalanx of finger, Shoulder dislocation, Flexion contracture, Devi... |
OMIM:143095 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Gait disturbance, Vertebral compression fracture, Osteoporosis |
ORPHA:85193 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Congenital bullous ichthyosiform erythroderma, Syndactyly, Follicular hyperker... |
OMIM:613576 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Hypoketotic hypoglycemia, Tip-toe gait, Equinovarus deformity, Pes cav... |
ORPHA:746 |
Cardiofaciocutaneous Syndrome |
|
Ichthyosis, Generalized hyperpigmentation, Short neck, Multiple cafe-au-lait spots, Abnormal eyel... |
ORPHA:1340 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Genu varum, Melanocytic nevus, Finger syndactyly, Kyphosis, Generalized hypopigmentation, Cachexi... |
ORPHA:1969 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
2-3 toe syndactyly, Alopecia, Small nail, Sparse lateral eyebrow, Clinodactyly of the 4th toe, Pi... |
OMIM:261990 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Butterfly ... |
OMIM:200980 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocyt... |
OMIM:618278 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplastic il... |
OMIM:313400 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, He... |
ORPHA:95455 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Enamel hypoplasia, Weight loss, Thyroiditis, Type I diabetes mellitus, Ataxia, Rickets,... |
OMIM:212750 |
X Small Rings |
|
2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Toe syndactyly, Clinodactyly of the 5... |
ORPHA:96201 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy |
OMIM:613869 |
Sialidosis Type 1 |
|
Aminoaciduria, Hernia, Kyphosis, Urinary excretion of sialylated oligosaccharides, Gait disturban... |
ORPHA:812 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia |
OMIM:618637 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Sparse bone trabeculae, Hypophosphatemic rickets, Low-molecular-weight proteinu... |
OMIM:300554 |
Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Tiger tail banding, Small nail, Pili torti, Death in infancy, Small for gest... |
OMIM:601675 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Broad foot, Toe syndactyly, Supernumerary nipple, Nail dysplasia, Short ... |
ORPHA:373 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis, Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Gait ataxia, Dysmetria, Osteopenia, Difficulty walking, Osteoporosis |
ORPHA:529665 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Anemia, Gait disturbance, Ataxia, Failure to thrive, Loss of ambulation, Respiratory failure, Dea... |
OMIM:615838 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Urinary retention, Weight loss, Low back pain, Hypoglycemia, Hypophosphatemic rickets, Hypoinsuli... |
ORPHA:2126 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Dystrophic toenail, Sparse scalp hair, Melanocytic nevus, Sparse eyebrow, Hypothyroidis... |
ORPHA:1882 |
Rabson-Mendenhall Syndrome |
|
Polydactyly, Hypothyroidism, Precocious puberty, Premature graying of hair, Reduced subcutaneous ... |
ORPHA:769 |
Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Micrognathia, Short neck, Limb undergrowth, Fibular bowing, Lumbar hyper... |
ORPHA:1427 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Genu valgum, Tapered finger, Kyphosis, Joint laxity, Scoliosis, Short palm, Obesi... |
OMIM:300431 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Thickened skin, Ichthyosis, Weight loss, Fine hair, Hypopigmentation... |
ORPHA:2221 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Coat hanger sign of ribs, Flexion contracture, Camptodactyly, Joint la... |
ORPHA:254528 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Long toe, Osteopenia, Arachnodactyly, Long fingers, Fasting hyperinsu... |
OMIM:619489 |
Lysinuric Protein Intolerance |
|
Respiratory insufficiency, Aminoaciduria, Pulmonary hemorrhage, Intraalveolar phospholipid accumu... |
OMIM:222700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Anemia, Exertional dyspnea, Glycosuria, Truncal ataxia, Hyperphosphaturia, Respira... |
OMIM:220110 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral bodies, Microgna... |
OMIM:265000 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Epiphyseal stippling, Respiratory failure, Death in infancy |
OMIM:614862 |
Duchenne And Becker Muscular Dystrophy |
|
Hyperlordosis, Slender long bone, Gait disturbance, Scoliosis, Joint stiffness, Reduced bone mine... |
ORPHA:262 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Pes cavus, Talipes equinovarus, Asp... |
ORPHA:2020 |
Osteogenesis Imperfecta, Type Xvii |
|
Scoliosis, Platyspondyly, Vertebral compression fracture, Osteoporosis, Thin metacarpal cortices |
OMIM:616507 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of the radius, Micrognathia, Respiratory distress, Brach... |
ORPHA:3015 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Hypothyroidism, Ankle clonus, Hypogonadism, Truncal ataxia, Type II diabetes mellitus, ... |
ORPHA:412057 |
X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Patchy hypo- and hyperpigmentation, Recurrent fractures, Kyphosis, Inability to w... |
ORPHA:3063 |
Arthrogryposis, Distal, Type 5 |
|
Absent phalangeal crease, Congenital finger flexion contractures, Distal arthrogryposis, Exertion... |
OMIM:108145 |
Porphyria, Congenital Erythropoietic |
|
Thickened skin, Osteolysis, Scleroderma, Thrombocytopenia, Splenomegaly, Alopecia, Hyperpigmentat... |
OMIM:263700 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Flexion contracture, Micrognathia, Clubbing of fingers, Pulmonary hypo... |
ORPHA:1865 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Flexion contracture, Death in infancy, Reduced subcutaneous adipos... |
OMIM:609069 |
Functioning Gonadotropic Adenoma |
|
Abnormality of secondary sexual hair, Isosexual precocious puberty, Decreased response to growth ... |
ORPHA:91348 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Short toe, Alopecia, Small nail, Short finger, Thin nail, Congenital nonbullous ichthyosiform ery... |
OMIM:242100 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, High anterior hairline, Congenital foot contractures, Kyphosis, Micrognathia, Camp... |
OMIM:314580 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circu... |
OMIM:219080 |
Brain-Lung-Thyroid Syndrome |
|
Choreoathetosis, Compensated hypothyroidism, Hypoparathyroidism, Vesicoureteral reflux, Abnormal ... |
ORPHA:209905 |
Stickler Syndrome |
|
Protrusio acetabuli, Genu valgum, Arachnodactyly, Kyphosis, Micrognathia, Cachexia, Spinal canal ... |
ORPHA:828 |
Harlequin Ichthyosis |
|
Respiratory insufficiency, Ichthyosis, Foot polydactyly, Hand polydactyly, Limitation of joint mo... |
ORPHA:457 |
Pachyonychia Congenita |
|
Alopecia, Palmoplantar hyperhidrosis, Fingernail dysplasia, Respiratory distress, Failure to thri... |
ORPHA:2309 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Ichthyosis, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney disease, Adr... |
OMIM:617575 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Anemia, Decreased body weight, Ichthyosis, Akinesia, Micrognathia, Respiratory dist... |
OMIM:608013 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Knee flexion contracture, Hip contracture, Hypoplastic pubic bone, Minimal subcutaneous fat, Seve... |
OMIM:210730 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Thin bony cortex, Hypoglycemia, Slender build, Reduced bone mineral de... |
OMIM:613658 |
Dent Disease 1 |
|
Thin bony cortex, Aminoaciduria, Hyperphosphaturia, Sparse bone trabeculae, Low-molecular-weight ... |
OMIM:300009 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur... |
OMIM:618108 |
Necrotizing Enterocolitis |
|
Hypotension, Abnormal heart morphology, Bradycardia, Shock |
ORPHA:391673 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Micrognathia, Fingernail dysplasia, Short neck, Sacral d... |
ORPHA:1507 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
4Q21 Microdeletion Syndrome |
|
Short foot, Kyphosis, Small hand, Toe syndactyly, Synophrys, Long eyelashes, Short neck, Scoliosi... |
ORPHA:238750 |
Marshall-Smith Syndrome |
|
Decreased body weight, Hallux valgus, Recurrent aspiration pneumonia, Melanocytic nevus, Synophry... |
OMIM:602535 |
Typical Nemaline Myopathy |
|
Respiratory insufficiency, Hyperlordosis, Genu valgum, Flexion contracture, Genu varum, Kyphosis,... |
ORPHA:171436 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Unilateral ... |
OMIM:206920 |
Kinsship Syndrome |
|
Polydactyly, Coxa valga, Micrognathia, Synophrys, Hip dislocation, Cervical ribs, Dislocated radi... |
OMIM:619297 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmopla... |
ORPHA:79395 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Costello Syndrome |
|
Respiratory insufficiency, Pneumothorax, Micrognathia, Deep-set nails, Thin nail, Hypoglycemia, S... |
OMIM:218040 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Short neck, Limb undergrowth, Narrow greater sciatic notch, Splenomegaly, D... |
OMIM:602557 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoplastic toenails, Rounded middle phalanx of finger, Histidinuria, Hypoglycemia, Impaired hist... |
ORPHA:2158 |
Osteogenesis Imperfecta, Type Viii |
|
Femoral retroversion, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent fractures... |
OMIM:610915 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Glass Syndrome |
|
Anterior tibial bowing, Micrognathia, Camptodactyly, Long eyelashes, Apnea, Inguinal hernia, Gene... |
OMIM:612313 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel, Death in infancy, Hydroureter, Respiratory failure, Hydronephrosis |
OMIM:618240 |
Zygomycosis |
|
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Neutropenia, Cellulitis, Fasciiti... |
ORPHA:73263 |
Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Alopecia, Abnormal pulmonary interstitial morphology, Leukopenia... |
ORPHA:809 |
Weaver Syndrome |
|
Coxa valga, Melanocytic nevus, Camptodactyly, Deep-set nails, Metatarsus adductus, Pes cavus, Ove... |
OMIM:277590 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Alopecia, Osteomyelitis, Bronchiectasis, Micrognathia, Spinal canal stenosis, Recurrent sinusitis... |
OMIM:618282 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Kyphosis, Gait disturbance, Adducted thumb, Scoliosis, Joint hyperflexibili... |
ORPHA:2181 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Anemia, Weight loss, Cachexia, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism |
ORPHA:298 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Patent ductus arteriosus, Absent thumb, Finger syndactyly, Kyphosis, Abnorma... |
ORPHA:392 |
Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Kyphosis, Hypoplasia of the radius, Micrognathia, Abnormal lung lobation, Butt... |
ORPHA:958 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Recurrent bronchopulmonary infections, Partial albinism, Neutropenia |
ORPHA:90023 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Ichthyosis, Tip-toe gait, Kyphosis, Spinal rigidity, Elbow flexion cont... |
ORPHA:98863 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Severe platyspondyly, Inability to walk, T lymphocytopenia, Micrognathia... |
ORPHA:508533 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short phalanx of finger, Short tibia, Hip subluxation, Short 5th finger, Micrognathia, Hip disloc... |
OMIM:268305 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Tip-toe gait, Kyphosis, Calf muscle hypertrophy, Nocturnal hypov... |
OMIM:607155 |
Jaberi-Elahi Syndrome |
|
Gait ataxia, Sparse eyebrow, Kyphosis, Brittle hair, Inability to walk, Choreoathetosis, Fine hai... |
OMIM:617988 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Hypospadias, Generalized hyperpigmentation |
ORPHA:1355 |
Kabuki Syndrome 2 |
|
Short 5th finger, Decreased body weight, Sparse lateral eyebrow, Micrognathia, Hip dislocation, J... |
OMIM:300867 |
Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Corneal scarring, Cachexia, Pes cavus, Failure to thrive, Scoliosis, Proteinur... |
OMIM:610965 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Acute leukemia, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellular... |
ORPHA:3226 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Weight loss, Reticulonodular pattern on pulmonary HRCT, Abnormal respi... |
ORPHA:133 |
Werner Syndrome |
|
Hypogonadism, Low back pain, Scleroderma, Alopecia of scalp, Diabetes mellitus, Elevated hemoglob... |
OMIM:277700 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Cholelithiasis, Hemolytic anemia, Kyphosis, Death in infancy, Normocyt... |
OMIM:615512 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Recurrent fractures, Absence of secondary sex characteristics, Anterior h... |
ORPHA:2235 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... |
OMIM:603909 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Gait imbalance, Ankle flexion contracture, Hypoglycemia |
OMIM:618120 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Micrognathia, Abnormality of the ureter, Short... |
ORPHA:2522 |
Bloom Syndrome |
|
Acute myeloid leukemia, Micrognathia, Acute lymphoblastic leukemia, Decreased proportion of CD4-p... |
ORPHA:125 |
Neonatal Hemochromatosis |
|
Micrognathia, Hypoglycemia |
ORPHA:446 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Respiratory insufficiency, Horizontal ribs, Pulmonary hypoplasia, Early ... |
OMIM:208500 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Decreased proport... |
OMIM:618048 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Patellar dislocation, Micrognathia, Recurrent sinusitis... |
OMIM:188400 |
46,Xx Gonadal Dysgenesis |
|
Abnormality of secondary sexual hair, Decreased serum estradiol, Osteoporosis of vertebrae, Spars... |
ORPHA:243 |
Bathing Suit Ichthyosis |
|
Alopecia, Thickened skin, Ichthyosis, Multiple joint contractures, Palmoplantar hyperkeratosis, C... |
ORPHA:100976 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit... |
OMIM:244400 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Synophrys, Gait disturbance, Ataxia, Scoliosis, Hypertrichosis |
ORPHA:85317 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Flexion contracture, Kyphosis, Pes cavus, Waddling gait, Scoliosis, Intrauterine g... |
OMIM:255200 |
Atypical Rett Syndrome |
|
Gait ataxia, Small hand, Kyphosis, Episodic tachypnea, Inability to walk, Gait disturbance, Loss ... |
ORPHA:3095 |
Dpagt1-Cdg |
|
Anemia, Flexion contracture, Thickened skin, Akinesia, Inability to walk, Clinodactyly, Camptodac... |
ORPHA:86309 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Epidermal hyperkeratosis, Plantar hyperkerat... |
OMIM:104100 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Sparse scalp hair, Ichthyosis, Absent eyelashes, Cobblestone-like hyperkeratosis,... |
OMIM:602540 |
Geleophysic Dysplasia 3 |
|
Thickened skin, Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Pneumonia, Limite... |
OMIM:617809 |
Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Micrognathia, Failure to thrive, Scoliosis, Osteoporosis |
OMIM:615851 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micro... |
OMIM:610475 |
Osteosarcoma |
|
Weight loss, Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morph... |
ORPHA:668 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Hypoglycemia, Respiratory distress |
OMIM:614741 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal fingertip morphology, Acroosteolysis of distal phalanges (feet), Micrognathia,... |
ORPHA:90154 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the lung, Weight loss, Neoplasm of the pancreas, Cachexia, Lymphadenopathy, M... |
ORPHA:83469 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Alpha-aminoadipic aciduria, Respiratory insufficiency, Pulmonary arterial hypertension, Death in ... |
OMIM:605711 |
Holoprosencephaly |
|
Respiratory insufficiency, Spinal dysraphism, Anterior hypopituitarism, Synophrys, Hypoglycemia, ... |
ORPHA:2162 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Primary Myelofibrosis |
|
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytos... |
ORPHA:824 |
Felty Syndrome |
|
Generalized hyperpigmentation, Osteolysis, Bone marrow hypocellularity, Thrombocytopenia, Splenom... |
ORPHA:47612 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Precocious puberty, Ichthyosis, Fair hair, Pineal cyst, Positional foot deformity... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Ichthyosis, Fair hair, Pineal cyst, Positional foot deformity... |
ORPHA:363958 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Exertional dyspnea, Weight loss, Increased serum serotonin, N... |
ORPHA:100083 |
Ane Syndrome |
|
Alopecia, Anterior pituitary hypoplasia, Lipoatrophy, Multiple joint contractures, Decreased resp... |
ORPHA:157954 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Flexion contracture, Hip contracture, Elbow flexion contracture, Hip dislocation, Joint laxity, L... |
OMIM:617301 |
Nijmegen Breakage Syndrome |
|
Pollakisuria, Hemolytic anemia, Cachexia, Recurrent sinopulmonary infections, Recurrent pneumonia... |
ORPHA:647 |
Cohen Syndrome |
|
Tapered finger, Micrognathia, Abnormal eyelash morphology, Thick eyebrow, Thick hair, Genu valgum... |
ORPHA:193 |
Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Ichthyosis, Tip-toe gait, Kyphosis, Spinal rigidity, Elbow flexion cont... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Ichthyosis, Tip-toe gait, Kyphosis, Spinal rigidity, Elbow flexion cont... |
ORPHA:98853 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Premature graying of hair, Bone marrow hypocellularity, Sparse eyelashes,... |
OMIM:305000 |
Becker Nevus Syndrome |
|
Lipoatrophy, Kyphosis, Supernumerary ribs, Supernumerary nipple, Spina bifida occulta, Abnormalit... |
ORPHA:64755 |
Arterial Tortuosity Syndrome |
|
Femoral hernia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hip d... |
ORPHA:3342 |
Sickle Cell Anemia |
|
Osteomyelitis, Hemolytic anemia, Hypoxemia, Reticulocytosis, Persistence of hemoglobin F, Pigment... |
ORPHA:232 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Methylmalonic aciduria, Dicarboxylic aciduria, Hypoglycemia |
ORPHA:289504 |
Subaortic Stenosis-Short Stature Syndrome |
|
Respiratory insufficiency, Kyphosis, Micrognathia, Synostosis of carpal bones, Type II diabetes m... |
ORPHA:3191 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Pneumothorax, Choreoathetosis, Neonatal hypoglycemia... |
ORPHA:445038 |
Trisomy 13 |
|
Patent ductus arteriosus, Hernia, Kyphosis, Abnormal lung lobation, Abnormal pelvic girdle bone m... |
ORPHA:3378 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Ichthyosis, Tip-toe gait, Kyphosis, Spinal rigidity, Elbow flexion cont... |
ORPHA:98855 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Wide anterior fontanel, Kyphosis, Enlarged kidney, Micrognathia, Large for gestati... |
OMIM:618272 |
Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Kyphosis, Ataxia, Patchy alopecia, Poliosis |
OMIM:141300 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Micrognathia, Thin eyebrow, Respiratory distress, Failure to thrive, Long foot, Dyspnea, Absent e... |
ORPHA:2707 |
Diffuse Alveolar Hemorrhage |
|
Pulmonary infiltrates, Anemia, Weight loss, Hematuria, Hypoxemia, Ground-glass opacification, Air... |
ORPHA:90060 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Stiff neck, Rhinitis, Respiratory distress, Lymphopenia, Crackles, Thrombocytopenia, ... |
ORPHA:319213 |
Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Flared iliac wing, Ataxia... |
OMIM:230650 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia, Micrognathia, Respiratory failure, Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:607598 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Kyphosis, Increased circulating cortisol level, Decreased cir... |
OMIM:610489 |
X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... |
ORPHA:89936 |
Hallermann-Streiff Syndrome |
|
Respiratory insufficiency, Sparse body hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Recurren... |
ORPHA:2108 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Vertebral fusion, Hypothyroidism, Ichthyosis, Kyphosis, Vertebral segmenta... |
ORPHA:96169 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Micrognathia, Insulin resistance, Cryptorchidism, Lower limb asymmetry, Obstr... |
ORPHA:96182 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Primary adrenal ins... |
OMIM:617872 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Genu valgum, Palmoplantar cutis laxa, Metaphyseal sclerosis, Generalized bronze hyperpigmentation... |
ORPHA:2976 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Finger syndactyly, Missing ribs, Hand polydactyly, Hypopigmented skin patches, Abnormal... |
ORPHA:1647 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Abnormal m... |
ORPHA:98848 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Frontal upsweep of hair, Broad eyebrow, Corneal scarring, Urethral stricture, Clu... |
OMIM:301220 |
Basilicata-Akhtar Syndrome |
|
Broad foot, Precocious puberty, Short foot, Camptodactyly, Neonatal hypoglycemia, Adducted thumb,... |
OMIM:301032 |
Bachmann-Bupp Syndrome |
|
Small nail, Sparse scalp hair, Clinodactyly of the 5th finger, Large for gestational age, Hypogly... |
OMIM:619075 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Vertebral arch anomaly, Broad femoral neck, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Hypoplasia of the thymus, Death in infancy, Lymphopenia, Congenital pulmonary ... |
OMIM:243150 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... |
OMIM:619644 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Alopecia, Anemia, Arthritis, Coombs-positive hemolytic anemia, Type I diabetes me... |
OMIM:304790 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Exertional dyspnea, Thoracic kyphoscoliosis, Restrictive ventilatory defect, Orthopnea, Scoliosis... |
ORPHA:98913 |
Marden-Walker Syndrome |
|
Wide anterior fontanel, Joint contracture of the hand, Kyphosis, Micrognathia, Camptodactyly, Rad... |
OMIM:248700 |
Tangier Disease |
|
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia |
ORPHA:31150 |
Crisponi Syndrome |
|
Camptodactyly of finger, Respiratory insufficiency, Flexion contracture, Kyphosis, Death in infan... |
ORPHA:1545 |
Familial Isolated Hyperparathyroidism |
|
Primary hyperparathyroidism, Chondrocalcinosis, Parathyroid adenoma, Hyperphosphaturia, Elevated ... |
ORPHA:99879 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Fair hair, Hypoplastic vertebral bodies, Blue irides, Short toe, Absent/... |
ORPHA:280651 |
Acquired Ichthyosis |
|
Palmoplantar keratoderma, Renal insufficiency, Ichthyosis, Hyperkeratosis |
ORPHA:454 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Calf muscle hypertrophy, Achilles tendon contracture, Reduced vital ca... |
OMIM:603689 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Gait ataxia, Congenital hip dislocation, Hypoglycemia, Scoliosis, Intrauterine growth retardation |
OMIM:616355 |
Scleroderma |
|
Osteolytic defects of the phalanges of the hand, Finger swelling, Pulmonary arterial hypertension... |
ORPHA:801 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cafe-au-lait spot, Asthma, Gait disturbance, Large for gestational age, Neonatal hypo... |
ORPHA:457485 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... |
ORPHA:79237 |
Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Renal cortical cysts, Wide anterior fontanel, Death in infancy, Ataxia, Fail... |
OMIM:609180 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Plantar hyperkeratosis, Fragile nails, Patchy alopeci... |
OMIM:226650 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Micrognathia, Broad hallux, Short neck, Slender finger, Bilateral talipes equinovarus, Sparse hai... |
ORPHA:251028 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss, Respiratory distress, Ataxia, Organic aciduria, Thrombocytopenia, Tachypnea |
ORPHA:79242 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Patellar dislocation, Supernumerary nipple, Metatarsus a... |
ORPHA:261349 |
Riddle Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Enuresis nocturna, Weight loss, Arthritis... |
ORPHA:420741 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells |
OMIM:613500 |
Juvenile Idiopathic Arthritis |
|
Abnormal pleura morphology, Thickened skin, Arthritis, Abnormality of the nail, Nail pits, Abnorm... |
ORPHA:92 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Large for gestational age, Hyperin... |
ORPHA:276580 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Hypoplastic acetabulae, Thickened skin, Flared iliac wing, Anterior wedging ... |
OMIM:253200 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Genu valgum, Kyphosis, Flared iliac wing, Flat capital femoral epiphysis, Short ne... |
OMIM:252605 |
Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Flexion contracture, Splenomegaly, Kyphosis, Asthma, Dermatan sulfate excr... |
OMIM:309900 |
Classic Homocystinuria |
|
Pulmonary embolism, Genu valgum, Sparse scalp hair, Hernia, Recurrent fractures, Kyphosis, Abnorm... |
ORPHA:394 |
Classic Hodgkin Lymphoma |
|
Respiratory insufficiency, Weight loss, Ataxia, Osteolysis, Lymphadenopathy, Cough, Bone marrow h... |
ORPHA:391 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Death in childhood, Ataxia |
OMIM:246900 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... |
ORPHA:50251 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Anterior wedging of T11, Short 1st metacarpal, Mic... |
OMIM:164745 |
Sotos Syndrome |
|
Patent ductus arteriosus, High anterior hairline, Genu valgum, Small nail, Sparse eyebrow, Joint ... |
OMIM:117550 |
Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... |
OMIM:207750 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Recurrent fractures, Severe pl... |
OMIM:259770 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Splenomegaly, Leukopenia, Sparse lateral eyebrow, Micrognathia, Recurrent broncho... |
OMIM:604173 |
Tibial Muscular Dystrophy |
|
Respiratory failure, Peroneal muscle atrophy, Difficulty walking, Steppage gait |
ORPHA:609 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Vesicoureteral reflux, 2-3 toe syndactyly, Hallux valgus, Kyphosis, Leuk... |
OMIM:619951 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Genu valgum, Short 5th finger, Short foot, Kyphosis, Smal... |
OMIM:618443 |
Fountain Syndrome |
|
Kyphosis, Abnormal foot morphology, Synophrys, Spina bifida, Coarse metaphyseal trabecularization... |
ORPHA:3219 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, T lymphocytopenia, Recurrent sinusitis, Vitiligo, Pneumonia, Sclerosis of skull b... |
OMIM:607944 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Death in infancy, Small for gestational age, Neonatal hypoglycemia, Failure to thr... |
OMIM:619055 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Leukopenia, Anemia, Renal salt wastin... |
OMIM:613845 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Chilblain Lupus |
|
Finger swelling, Asthma, Hyperkeratosis, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Alopecia, Sparse eyebrow, Small nail, Tapered toe, Tapered finger, Sparse scalp ha... |
ORPHA:544488 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Increased bone mineral density, Micrognathi... |
ORPHA:90652 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Coarse hair, Postaxial hand polydactyly, Sparse hair, Reduced bone mineral density,... |
ORPHA:2750 |
Emanuel Syndrome |
|
Sacral dimple, Patent ductus arteriosus, Kyphosis, Micrognathia, Unilateral renal agenesis, Recur... |
OMIM:609029 |
Pyridoxine-Dependent Epilepsy |
|
Neonatal respiratory distress, Neonatal asphyxia, Hypoglycemia |
ORPHA:3006 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Sacral dimple, Lower-limb joint contracture, Tapered finger, Inability to walk, Toe syndactyly, D... |
ORPHA:459070 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Ankle clonus, Tip-toe gait, Congenital foot contractures, Neonatal hypoglycemia, Prominent calcan... |
ORPHA:565624 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Hyperphosphaturia, Medullary nephrocalcinosis, Bowing of the legs, Waddling gait, R... |
ORPHA:157215 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Hodgkin Lymphoma |
|
Weight loss, Ataxia, Lymphadenopathy, Dyspnea, Cough, Splenomegaly |
ORPHA:98293 |
Sponastrime Dysplasia |
|
Hip subluxation, Broad foot, Hypothyroidism, Precocious puberty, Flat capital femoral epiphysis, ... |
ORPHA:93357 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Splenomegaly, Anemia... |
ORPHA:2072 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Kyphosis, Hypose... |
OMIM:169400 |
O'Donnell-Luria-Rodan Syndrome |
|
Tapered finger, Kyphosis, Cryptorchidism |
OMIM:618512 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Respiratory insufficiency, Hyperlordosis, Peroneal muscle atrophy, Small hand, Kyphosis, Hip dysp... |
OMIM:181405 |
Lathosterolosis |
|
Acanthocytosis, Myelomeningocele, Bilobate gallbladder, Toe syndactyly, Micrognathia, Anisopoikil... |
OMIM:607330 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Hypertrichosis, Gait disturbance, Joint hyperflexibility, Kyphosis |
OMIM:614898 |
Intellectual Disability, Buenos-Aires Type |
|
Spastic gait, Clinodactyly of the 5th finger, Cuboid-shaped thoracolumbar vertebral bodies, Fine ... |
ORPHA:3079 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Thickened skin, Palmoplantar hyperhidrosis, Ankylosis, Abnormal fingernail morphology, ... |
ORPHA:659 |
Monosomy 18P |
|
Alopecia, Hypothyroidism, Micrognathia, Kyphoscoliosis, Short neck, Brachydactyly, Low posterior ... |
ORPHA:1598 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Atrophic scars, Nail dystrophy |
OMIM:131850 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Flexion contracture, Decreased body weight, Recurrent respiratory infections, Shu... |
OMIM:300534 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Splenomegaly, Cafe-au-lait spot, Reduced renal corticomedullary dif... |
OMIM:618541 |
Infantile Krabbe Disease |
|
Ankle clonus, Cachexia, Respiratory distress, Hypopigmented skin patches, Failure to thrive, Resp... |
ORPHA:206436 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Asthma, ... |
ORPHA:1164 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Erlenmeyer flask deformity of the femurs, Long eyelashes, Ataxia, Increased skull ossif... |
OMIM:618476 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Flexion contracture, Micrognathia, Alopecia totalis, Short... |
OMIM:263650 |
Osteosclerosis With Ichthyosis And Fractures |
|
Ichthyosis, Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone... |
OMIM:166740 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Renal tubular acidosis, Ketotic hypoglycemia, Osteoporosis, Polycystic ovaries, Recurrent... |
ORPHA:79240 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Anemia, Renal tubular acidosis, Abnormal erythrocyte enzyme level, Failure to thriv... |
ORPHA:264580 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Absence of pubertal development, Osteoporosis, Hypogonadism |
OMIM:615267 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Kyphosis, Limb ataxia, Ataxia, Pes cavus, Dysmetria, Scoliosis |
OMIM:610743 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Respiratory insufficiency, Missing ribs, Congenital diaphragmatic hernia... |
ORPHA:1488 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Glycosuria, Abnormal ... |
ORPHA:552 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Decreased testicular size, Clinodactyly, Multiple cafe-a... |
ORPHA:85279 |
Erdheim-Chester Disease |
|
Diabetes insipidus, Abnormal pulmonary interstitial morphology, Anemia, Osteomyelitis, Weight los... |
ORPHA:35687 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Monilethrix |
|
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy,... |
OMIM:158000 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... |
OMIM:263200 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Absent fingernail, Clinodactyly of the 5th finger, Alopecia universalis, Alopecia totalis, Syndac... |
OMIM:609638 |
Olmsted Syndrome 2 |
|
Flexion contracture of digit, Alopecia universalis, Palmoplantar hyperkeratosis, Woolly hair, Par... |
OMIM:619208 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Flexion contracture, Abnormal eyebrow morphology, Acroosteolysis of distal phalanges (f... |
ORPHA:90153 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis, Miscarriage |
ORPHA:3406 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, Patent ductus arteriosus, Arthritis, Palmoplanta... |
OMIM:259100 |
Srd5A3-Cdg |
|
Hypothyroidism, Ichthyosis, Decreased response to growth hormone stimulation test, Kyphosis, Spot... |
ORPHA:324737 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Dysdiadochokinesis, Gait disturbance, Dysmetria, Respiratory failure, Progressive... |
ORPHA:98755 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Gait ataxia, Unsteady gait, Recurrent hypoglycemia |
OMIM:618158 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism |
OMIM:604931 |
Wolman Disease |
|
Anemia, Adrenal insufficiency, Cachexia, Bone-marrow foam cells, Adrenal calcification, Splenomegaly |
ORPHA:75233 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Hematuria, Fine hair, Pulmonary fibrosis, Hyperkeratosis, Recurrent respiratory infecti... |
ORPHA:1839 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Alopecia, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:453533 |
Chime Syndrome |
|
Aplastic clavicle, Short foot, Ichthyosis, Aplasia/Hypoplasia of the phalanges of the toes, Hip d... |
ORPHA:3474 |
Monosomy 22 |
|
Contractures of the large joints, Thickened skin, Finger syndactyly, Synophrys, Clinodactyly of t... |
ORPHA:96123 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Wide anterior fontanel, Glycosuria, Polycystic kidney... |
OMIM:231680 |
Giant Cell Arteritis |
|
Alopecia, Abnormal pleura morphology, Diabetes insipidus, Renal insufficiency, Weight loss, Arthr... |
ORPHA:397 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
Muenke Syndrome |
|
Short foot, Coronal craniosynostosis, Carpal synostosis, Hypopigmented skin patches, Hypopigmenta... |
ORPHA:53271 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Gait disturbance, Ataxia, Pes cavus, Scoliosis |
ORPHA:101075 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Decreased body weight, Long hallux, Narrow pelvis bone, Dela... |
OMIM:600002 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, 3-Methylglutaconic aciduria, Inability to walk, Hypoglycemia |
OMIM:614739 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Alopecia |
OMIM:164180 |
Williams Syndrome |
|
Hypothyroidism, Precocious puberty, Hallux valgus, Patellar dislocation, Increased bone mineral d... |
ORPHA:904 |
Deeah Syndrome |
|
Decreased body weight, Neonatal hypoglycemia, Short neck, Thrombocytopenia, Decreased circulating... |
OMIM:619004 |
Mogs-Cdg |
|
Alopecia, Hypothyroidism, Hypoventilation, Pulmonary edema, Fair hair, Long eyelashes, Respirator... |
ORPHA:79330 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Delayed puberty, Osteopenia, Hypogonadism |
OMIM:615270 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Gait imbalance, Inability to walk, Cough, Steppage gait, Hyperkeratosis, Pathologi... |
ORPHA:36386 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
B lymphocytopenia, Abnormal natural killer cell morphology, Micropenis, T lymphocytopenia |
OMIM:615966 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Enamel hypoplasia, Micrognathia, Elbow flexion contracture, Ivory epiphyses, Hi... |
OMIM:210600 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Hyperinsulinemic hypoglyce... |
ORPHA:276575 |
Addison Disease |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Primary adrenal in... |
ORPHA:85138 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Failure to thrive, Unsteady gait, Hypoglycemia |
ORPHA:79096 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Preaxial hand polydactyly, Hypogonadism, Absent eyelashes, Hand polydactyly, Failure to... |
ORPHA:2316 |
Distal Tetrasomy 15Q |
|
Patent ductus arteriosus, Flexion contracture, Hernia, Kyphosis, Micrognathia, Polycystic kidney ... |
ORPHA:314588 |
Oculopharyngodistal Myopathy |
|
Tibialis muscle weakness, Recurrent aspiration pneumonia, Weight loss, Loss of ambulation, Restri... |
ORPHA:98897 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:289548 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Respiratory insufficiency, Gait ataxia, Hypothyroidism, Hyperthyroidism, Exertional dyspnea, Gluc... |
ORPHA:254892 |
Marshall-Smith Syndrome |
|
Increased susceptibility to fractures, Bowing of the long bones, Slender long bone, Failure to th... |
ORPHA:561 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Diabetes mellitus, Osteoporosis |
OMIM:601811 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Wide anterior fontanel, Supernumerary nipple, Ataxia, Congenital hip dislocation, Hypoglycemia, U... |
ORPHA:457279 |
Xp21 Deletion Syndrome |
|
Calf muscle hypertrophy, Adrenal insufficiency, Apneic episodes in infancy, Joint laxity, Primary... |
ORPHA:261476 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lym... |
ORPHA:331206 |
Primrose Syndrome |
|
Hypothyroidism, Flexion contracture, Synophrys, Metatarsus adductus, Pes cavus, Generalized osteo... |
OMIM:259050 |
16P13.2 Microdeletion Syndrome |
|
Flexion contracture, Small hand, Kyphosis, Hypogonadism, Asthma, Hip dysplasia, Gait disturbance,... |
ORPHA:500055 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Decreased response to growth hormone stimulation test, Long eyelashes, Cyst... |
OMIM:606407 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:168558 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Thickened skin, Hypoplasia of the thymus, Type I diabetes mellitus, Congenital pulmonary airway m... |
ORPHA:436252 |
Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Flexion contracture, Thickened skin, Abnormal ph... |
ORPHA:90291 |
Shox-Related Short Stature |
|
Genu valgum, Short foot, Micrognathia, Lower limb undergrowth, Short neck, Ulnar radial head disl... |
ORPHA:314795 |
Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Small hand, Kyphosis, Scoliosis, Unsteady gait, Short foot |
OMIM:617435 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Cachexia, Joint hyperflexibility, Ataxia |
ORPHA:52503 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Kyphosis, Repeated pneumothoraces, Camptodactyly, Clinodactyly of ... |
OMIM:617602 |
Restrictive Dermopathy 1 |
|
Flexion contracture, Micrognathia, Epidermal hyperkeratosis, Ankylosis, Pulmonary hypoplasia, Spa... |
OMIM:275210 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Splenomegaly, Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Inguinal ... |
OMIM:230500 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276556 |
Amish Lethal Microcephaly |
|
Death in infancy, Spina bifida, Micrognathia, Limitation of joint mobility, Organic aciduria, Dec... |
ORPHA:99742 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Urinary incontinence, Flexion contracture, Hip contracture, Kyphosis, Inability to walk, Achilles... |
OMIM:301041 |
Bazex Syndrome |
|
Anemia, Yellow nails, Lung adenocarcinoma, Parakeratosis, Hyperkeratosis, Liposarcoma, Acanthosis... |
ORPHA:166113 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of joint mobil... |
ORPHA:3454 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis |
OMIM:617525 |
Johanson-Blizzard Syndrome |
|
Alopecia, Anemia, Death in infancy, Hypoplasia of penis, Failure to thrive, Hypospadias, Diabetes... |
ORPHA:2315 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Micrognathia, Fingernail dysplasia, Hip dislocation, Short n... |
ORPHA:3107 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Small for gestational age, Micrognathia, Hypoplasia of the radius, Hypoplasia o... |
OMIM:227270 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Hyperinsulinem... |
ORPHA:263455 |
Koolen-De Vries Syndrome |
|
Fair hair, Iris hypopigmentation, Hip dislocation, Positional foot deformity, Slender finger, Abn... |
OMIM:610443 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617526 |
Bartsocas-Papas Syndrome |
|
Absent thumb, Aplasia/Hypoplasia of the eyebrow, Hypoplastic toenails, Finger syndactyly, Toe syn... |
ORPHA:1234 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Abnormality of limb bone morpho... |
ORPHA:85435 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Ataxia, Dysmetria, Thrombocytosis, Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
Olmsted Syndrome 1 |
|
Flexion contracture, Orthokeratosis, Alopecia universalis, Parakeratosis, Nail dysplasia, Subungu... |
OMIM:614594 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Congenital Disorder Of Deglycosylation 1 |
|
Chondroitin sulfate excretion in urine, 3-Methylglutaconic aciduria, Decreased body weight, Small... |
OMIM:615273 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Decreased response to growth hormone stimulation test, Abnormal response to ACTH s... |
OMIM:615577 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Chromomycosis |
|
Lymphangiectasis, Hyperkeratotic papule, Abnormal foot morphology, Ankylosis, Hypopigmented skin ... |
ORPHA:182 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothyroidism, Precocious puberty, Inability to walk, Breathing dysregulation, Nephrolithiasis, ... |
ORPHA:438213 |
Silver-Russell Syndrome 2 |
|
2-3 toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Neonatal hypoglycemia, Intraute... |
OMIM:618905 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Pedal edema, Anemia, Weight loss, Abnormality of adrenal morphology, Low back p... |
ORPHA:284 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Synophrys, Short neck, Ect... |
ORPHA:251014 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Micrognathia, Osteolysis, Generalized osteoporosis, Absence of subcutaneous fat |
OMIM:176670 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Joint hyperflexibility, Kyphosis |
ORPHA:319199 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hypoglycemia, Ataxia |
ORPHA:2394 |
Cousin Syndrome |
|
Wrist flexion contracture, Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Humeroradia... |
OMIM:260660 |
Leigh Syndrome With Cardiomyopathy |
|
Anemia, Renal tubular acidosis, Respiratory distress, Ataxia, Apnea, Failure to thrive, Central h... |
ORPHA:70474 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Failure to thrive, Hyperpigmentation of the skin, Intrauterine growth ret... |
ORPHA:50812 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... |
ORPHA:573 |
6Q Terminal Deletion Syndrome |
|
Gait ataxia, Talipes calcaneovalgus, Hallux valgus, Phimosis, Micrognathia, Clinodactyly, Aplasia... |
ORPHA:75857 |
Atelosteogenesis, Type Iii |
|
Horizontal sacrum, Rhizomelia, Micrognathia, Radial bowing, Cervical kyphosis, Flat acetabular ro... |
OMIM:108721 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hyperphosphaturia, Osteopenia, Ne... |
OMIM:612287 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Enlarged tonsils, Large for gestational age, N... |
ORPHA:293964 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Fair hair, Micrognathia, Hepatosplenomegaly, Reduced renal corticomedull... |
OMIM:266920 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hyperphosphaturia, Osteopenia, Ne... |
OMIM:612286 |
Singleton-Merten Syndrome 1 |
|
Osteolytic defects of the phalanges of the hand, Hip subluxation, Decreased body weight, Coxa val... |
OMIM:182250 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Thick hair, Finger syndactyly, Mic... |
ORPHA:2751 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Sparse hair, Ovarian neoplasm |
ORPHA:50944 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Ataxia, Failure to thrive, Bone marrow hypocellularit... |
OMIM:616353 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Hypothyroidism, Micrognathia, Synophrys, Abnormal toenail morphology, Acanthosis... |
ORPHA:444077 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Thyroid hypoplasia, Hypoglycemia, Short neck, Decreased cervical spine mobility, Decreased circul... |
ORPHA:226307 |
Chand Syndrome |
|
Curly hair, Hydroureter, Ataxia, Short fifth metatarsal, Nail dysplasia, Atelectasis |
ORPHA:1401 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Arthrogryposis And Ectodermal Dysplasia |
|
Joint contracture of the hand, Camptodactyly, Trichodysplasia, Diabetes mellitus, Kyphoscoliosis,... |
OMIM:601701 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Aciduria |
OMIM:617950 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Recurrent fractures, Kyphosis, Micrognathia, Joint hyperflexibility, Scolios... |
ORPHA:2050 |
Cystic Echinococcosis |
|
Abnormal subpleural morphology, Ovarian cyst, Abnormality of the testis size, Weight loss, Abnorm... |
ORPHA:400 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Spastic gait, Hip dislocation, Multiple lentigines, Silver-gray hair, Kyphoscoliosis, Horseshoe k... |
ORPHA:101003 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Wide anterior fontanel, Ataxia, ... |
OMIM:601853 |
Williams-Beuren Syndrome |
|
Hypothyroidism, Flexion contracture, Medial flaring of the eyebrow, Hallux valgus, Premature gray... |
OMIM:194050 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Kyphosis, Micrognathia, Delayed puberty, Scoliosis, Distichiasis |
ORPHA:2598 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Hypoglycemia, Nephrolithiasis, Increased susceptibility to fractures, Chronic neu... |
ORPHA:79259 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Pedal edema, Abnormal pulmonary interstitial morphology, Leukope... |
ORPHA:77259 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Neutropenia, Hemolytic anemia, Arthritis, Abnormal eosinophil m... |
ORPHA:906 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Large for gestational age, Rickets, Diabetes mellit... |
OMIM:616026 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Highly arched eyebrow, Kyphosis |
OMIM:609384 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Increased susceptibility to fractures, Acute myeloid leukemia, Splenomegaly, Increased basophil c... |
ORPHA:98849 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Ichthyosis, Failure to thrive, Hyperkeratosis, Hypertrichosis, ... |
OMIM:612379 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Alopecia, Anemia, Lymphadenopathy |
ORPHA:100025 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Syncope, Bradycardia |
ORPHA:221098 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Kyphosis, Hip dysplasia, Scoliosis, Brachydactyly, Short distal phalanx o... |
ORPHA:1858 |
17Q11 Microdeletion Syndrome |
|
Thickened skin, Precocious puberty, Thickened cortex of long bones, Osteolysis, Freckling, Multip... |
ORPHA:97685 |
Sézary Syndrome |
|
Alopecia, Abnormal pleura morphology, Irregular hyperpigmentation, Splenomegaly, Lymphadenopathy,... |
ORPHA:3162 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Increased susceptibility to fractures, Hypothyroidism, Abnormality of the Achille... |
ORPHA:909 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Flat capital femoral epiphysis, Metaphyseal striations, Lumbar interpedicular narrowing, Limited ... |
OMIM:271510 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Ventricular septal defect, Hypertension, Bradycardia, Tachycardia |
OMIM:614653 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Choreoathetosis, Abnormal mitochondrial morphology |
OMIM:300438 |
Coffin-Lowry Syndrome |
|
Tapered finger, Kyphosis, Short metacarpal, Craniofacial hyperostosis, Pes planus, Abnormality of... |
ORPHA:192 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, 3-Methylglutaconic aciduria, Flexion contracture, Rhizomelia, Micrognathia, Choreoath... |
OMIM:616271 |
Leprechaunism |
|
Central hypothyroidism, Thickened skin, Decreased body weight, Reduced subcutaneous adipose tissu... |
ORPHA:508 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse body hair, Sparse scalp hair, Absent eyelashes, Supernumerary nipple, Trichodysplasia, Abn... |
ORPHA:1809 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Synophrys, Recurrent sinusitis, Supernumerary nipple, Overlapping toe, Short neck, ... |
OMIM:213980 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure, Stage 5 chronic kidney disease, Enlarged kidney, ... |
OMIM:602088 |
Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Weight loss, Normocytic anemia, Decreased circulating ACTH lev... |
ORPHA:199299 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Pulmonary infiltrates, Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anem... |
OMIM:606367 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocyt... |
OMIM:616084 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Synophrys, Widow's peak, Long eyelashes, Short neck, Hirsutism, Thick eyebrow, Anonychi... |
OMIM:616455 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Patent ductus arteriosus after birth at term, Unilateral lung agenesis, Cervical ri... |
ORPHA:500150 |
Whim Syndrome |
|
Lymphadenitis, Respiratory tract infection, Neutropenia, Bronchiectasis, Cellulitis, Abnormality ... |
ORPHA:51636 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Ichthyosis, Asthma, Joint contracture, Congenital nonbullous ichthyosiform erythroderma, Inguinal... |
OMIM:614457 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Ichthyosis, Abnormality of the nail, Hypoplastic fingernail, Abnormal ey... |
ORPHA:2273 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Ankle clonus, Difficulty walking |
OMIM:613954 |
Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Abnormal spleen physiology, Increased proportion of HLA DR+ T cel... |
ORPHA:398063 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Reduced bone mineral density, Sparse body hair, Primar... |
ORPHA:90796 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Arrhinencephaly, Anencephaly, Ab... |
OMIM:236680 |
Cushing Disease |
|
Pedal edema, Pituitary corticotropic cell adenoma, Decreased eosinophil count, Adrenal hyperplasi... |
ORPHA:96253 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Death in infancy, Respiratory distress, Ataxia, Respiratory failure, T... |
OMIM:614299 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Gait disturbance, Ataxia, Pes cavus, Scoliosis |
ORPHA:101078 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Inability to walk, Broad distal phalanx of the toes, Pes cavus, Overlapping t... |
ORPHA:464738 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Ichthyosis, Bilateral cryptorchidism, Hypospadias, Micropenis |
OMIM:618840 |
Multiple Carboxylase Deficiency |
|
Alopecia, Respiratory distress, Ataxia, Organic aciduria, Tachypnea |
ORPHA:148 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Alopecia, Recurrent sinusitis, Pulmonary artery stenosis, Short ... |
ORPHA:85202 |
Perrault Syndrome 4 |
|
Gait ataxia, Decreased serum estradiol, Increased circulating gonadotropin level, Hypoplasia of t... |
OMIM:615300 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Functional abnormality of the bladder |
ORPHA:71211 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Synophrys, Ataxia, Hirsutism, Scoliosis, Unsteady gait |
OMIM:300861 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Urinary incontinence, Alopecia, Gait apraxia, Low back pain, Gait disturbance, Ataxia, Dysmetria |
OMIM:600142 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Ataxia, Neonatal hypoglycemia, Failure to thrive, Macrocytic anemia, Splenomegaly |
OMIM:619046 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... |
OMIM:208540 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Palmoplantar keratoderma, Clubbing of toes, Weight loss |
ORPHA:2198 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Joint stiffness, Alopecia totalis, Atypical scarring of skin, Palmoplantar keratoderma, Nail dyst... |
ORPHA:1366 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Small nail, Micrognathia, Absent distal phalanges, Short middle phalanx of finger, Low ... |
OMIM:614219 |
Lymphatic Malformation 12 |
|
Hydrocele testis, Recurrent upper and lower respiratory tract infections, Inguinal hernia, Pleura... |
OMIM:620014 |
Mastocytosis |
|
Respiratory insufficiency, Splenomegaly, Abnormality of skin pigmentation, Recurrent fractures, A... |
ORPHA:98292 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse scalp hair, Absent eyelashes, Reduced subcutaneous adipose tissue, Pulmonary lym... |
OMIM:137940 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Joint hypermobility, Hypospadias, Delayed puberty, Hypogonadotropic hypogonadism, Osteo... |
OMIM:619718 |
Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Weight loss, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive v... |
ORPHA:1302 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Generalized ichthyosis, Hypogonadism, Alopecia of scalp, Absent pubic hair, Gener... |
ORPHA:2269 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory insufficiency, Hypoketotic hypoglycemia, Small for gestational age, Failure to thrive... |
OMIM:609015 |
Degcags Syndrome |
|
Polydactyly, Premature graying of hair, Toe syndactyly, Micrognathia, Synophrys, Hepatosplenomega... |
OMIM:619488 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Ataxia, Apnea, Dysmetria, Central hypoventilation, Respiratory failure, Sleep apnea, Broad-based ... |
OMIM:618233 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary obstruction, Recurrent sinopulmo... |
OMIM:616576 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Osteomyelitis, Cellulitis, Granulomatosis, Pleural effusion, Recurrent pneumonia, ... |
OMIM:306400 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... |
OMIM:119600 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Alopecia, Ichthyosis, Abnormality of the nail, Failure to thrive, Palmoplantar keratoderma |
ORPHA:79394 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Massively thickened long bone cortices, Increased bone mineral density, ... |
ORPHA:1798 |
Leopard Syndrome 3 |
|
Curly hair, Multiple lentigines, Epidermal hyperkeratosis, Short neck, Low posterior hairline, Fe... |
OMIM:613707 |
Larsen Syndrome |
|
Respiratory insufficiency, Accessory carpal bones, Abnormality of the cervical spine, Finger synd... |
ORPHA:503 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Knee flexion contracture, Vesicoureteral reflux, Patent ductus arteriosus, Flexion contracture, H... |
OMIM:300868 |
Hepatoerythropoietic Porphyria |
|
Hypopigmentation of the skin, Thickened skin, Purple urine, Splenomegaly, Red urine, Hemolytic an... |
ORPHA:95159 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Polycystic kidney dysplasia, Hip dislocation, Hepatosplenomegaly, Failure to thrive, Sh... |
OMIM:608776 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure, Loss of ambulation |
OMIM:613435 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Leukopenia, Nephrotic syndrome, Arthritis, Microangiopathic hemolytic anemia, Hematuria... |
ORPHA:93552 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Abnormal metaphysis morphology, Limb undergrowth, Ataxia |
ORPHA:1861 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Kyphosis, Elbow flexion contracture, Flexion contracture of finger, San... |
OMIM:619040 |
Incontinentia Pigmenti |
|
Scarring, Breast aplasia, Supernumerary nipple, Nail dysplasia, Eosinophilia, Coarse hair, Sparse... |
OMIM:308300 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90791 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Synophrys, Adenoiditis, Hirsutism, Coarse hair, Abnormal rib morphology, Spl... |
ORPHA:581 |
Ovarian Dysgenesis 8 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618187 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Increased susceptibility to fractures, Abnormal foot morphology, Abnorma... |
ORPHA:352540 |
3C Syndrome |
|
Finger syndactyly, Kyphosis, Death in infancy, Micrognathia, Missing ribs, Hypoplasia of penis, H... |
ORPHA:7 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Encephalocele, Hypogonadism, Coronal craniosynostosis, Fine hair, Cryptorchidism, Intra... |
ORPHA:228390 |
Rapp-Hodgkin Syndrome |
|
Sparse eyebrow, Enamel hypoplasia, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, D... |
OMIM:129400 |
Olmsted Syndrome, X-Linked |
|
Palmoplantar hyperkeratosis, Alopecia totalis, Parakeratosis, Hyperkeratosis, Subungual hyperkera... |
OMIM:300918 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas... |
ORPHA:169154 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Pigmentary retinopathy, Alopecia, Enamel hypoplasia, Hypothyroidism, Asplenia, Decreased circulat... |
OMIM:240300 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Vesicoureteral reflux, Weight loss, Ataxia, Loss of ambulation, Intraut... |
ORPHA:3208 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypoglycemia, Episodic tachypnea |
OMIM:615160 |
Prolactinoma |
|
Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating ACTH level, Ad... |
ORPHA:2965 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Genu valgum, Hypoventilation, Hip contracture, Kyphosis, Finger joint hypermobility, Inability to... |
OMIM:618493 |
Dowling-Degos Disease |
|
Progressive reticulate hyperpigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmentatio... |
ORPHA:79145 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Finger joint hypermobility, Chronic rhinitis, Parakeratosis, Short neck, Palmoplantar keratoderma... |
OMIM:615225 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Urinary incontinence, Ankle clonus, Kyphosis, Spastic gait, Pes cavus, Upper limb dysmetria, Scol... |
OMIM:614409 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Hypoplastic fingernail, Abnormal metaphysis morphology, Short pal... |
ORPHA:2658 |
Relapsing Polychondritis |
|
Alopecia, Arthritis, Hematuria, Limitation of joint mobility, Abnormal pattern of respiration, Dy... |
ORPHA:728 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly, Weight loss |
ORPHA:79238 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Butterfly vertebrae, Hip dislocation, Nail dysplasia, Subungual hyperker... |
OMIM:308205 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Kyphosis, Long eyelashes, Respiratory distress, Abnormality of the endo... |
ORPHA:79329 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... |
OMIM:619705 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Atrophic scars, Abnormal toenail morphology, Hyperkeratosis, Nail dystrophy |
ORPHA:89843 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
Cowden Syndrome |
|
Melanocytic nevus, Enlarged polycystic ovaries, Kyphosis, Adenoma sebaceum, Ataxia, Brachydactyly... |
ORPHA:201 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Gout, Delayed puberty, Hypoglycemia, Decreased glomerular filtration rate, Fasti... |
OMIM:232200 |
Acute Lung Injury |
|
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distres... |
ORPHA:178320 |
Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Palmoplantar cutis laxa, Joint laxity, Congenital hip dislocation, Spo... |
OMIM:229200 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Short 4th toe, Short lower limbs, Short nail, Cone-shaped epiphyses of the phalanges of... |
ORPHA:420794 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Gait ataxia, Sparse eyebrow, Kyphosis, Broad eyebrow, Joint laxity, Large for gestational age, Li... |
ORPHA:457359 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Cryptorchidism, Respiratory failure, Death in childhood, Micropenis |
OMIM:619847 |
Microsporidiosis |
|
Bronchitis, Lymphadenitis, Rhinitis, Osteomyelitis, Decreased proportion of CD4-positive helper T... |
ORPHA:2552 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Sparse scalp hair, Loose anagen hair, Curly hair, Cafe-au-lait spot, Ichthyosis, Long eyelashes, ... |
OMIM:607721 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Neutropenia, Enlarged kidney, Gout, Delayed puberty, Hypoglycemia, Decreased glomer... |
OMIM:232220 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal hair m... |
ORPHA:248 |
Saul-Wilson Syndrome |
|
Irregular vertebral endplates, Coxa valga, Wide anterior fontanel, Short metacarpal, Enlarged epi... |
OMIM:618150 |
Congenital Erythropoietic Porphyria |
|
Thickened skin, Purple urine, Scarring, Reticulocytosis, Osteolysis, Thrombocytopenia, Splenomega... |
ORPHA:79277 |
Adult Acute Respiratory Distress Syndrome |
|
Pulmonary infiltrates, Pulmonary edema, Diabetic ketoacidosis, Hypoxemia, Dyspnea, Abnormal blood... |
ORPHA:70578 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Tapered finger, Finger syndactyly, Kyphosis, Abnormal rib morphology, Fi... |
ORPHA:2215 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pedal edema, Pituitary corticotropic cell adenoma, Atypical pulmo... |
ORPHA:99889 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Bronchiectasis, Decreased circulating cortisol level, Recurrent sinusitis, Alopecia totalis, Viti... |
ORPHA:293978 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short phalanx of finger, Short toe, Dentinogenesis imperfecta, Precocious puberty, Moderate album... |
OMIM:619269 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Knee flexion contracture, Hip contracture, Epiphyseal stippling, Scoliosis, Coarse hair, Sparse h... |
OMIM:118650 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... |
OMIM:602400 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Stage 5 chronic kidney disease, Respiratory distress, F... |
OMIM:251000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Toenail dysplasia, Gait imbalance, Kyphosis, Hip dysplasia, Short digit, Prominent... |
OMIM:300966 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:411703 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hai... |
OMIM:256710 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... |
OMIM:171480 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... |
OMIM:619652 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micrognathia, Pulmonary hypoplasia, Overlapping toe, Cleft vertebral arch, Coarse hair, Biliary h... |
ORPHA:83617 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Insulinoma |
|
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Neuroendocr... |
ORPHA:97279 |
Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Hypoplastic ilia, Kyphosis... |
ORPHA:1855 |
Lymphatic Filariasis |
|
Vaginal hydrocele, Glomerulonephritis, Wheezing, Lymphadenitis, Abnormal lung morphology, Ankle s... |
ORPHA:2035 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Patellar dislocation, Kyphosis, Clinodactyly of the 5th finger, Vaginal hernia,... |
ORPHA:2916 |
Boutonneuse Fever |
|
Leukopenia, Abnormality of the plantar skin of foot, Lymphadenopathy, Thrombocytopenia, Cervical ... |
ORPHA:83313 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Tapered finger, Weight loss, Micrognathia, Congenital diaphragmatic her... |
ORPHA:251071 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Ichthyosis, Hypogonadism, Testicular seminoma, Unilateral renal agenesis, Cr... |
ORPHA:281090 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Sparse eyebrow, Sparse scalp hair, Kyphosis, Short ribs, Coronal crani... |
OMIM:603116 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Dysmetria, Hypoglycemia, Thrombocytopenia, Athetosis, Intrauterine growth retardation |
OMIM:617710 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Morbus Scheuermann, Kyphosis, Arthritis, Micrognathia, Joint hypermobility, Spond... |
OMIM:108300 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Fair hair, Blue irides, Ectrodactyly, Sparse eyelashes, Hypoplastic sacrum, Vesic... |
OMIM:604292 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Chondrocalcinosis, Weight loss, Renal ham... |
ORPHA:143 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, Obesity, B... |
ORPHA:411515 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Anemia, Flexion contracture, Abnormality of the cervical spine, Weight loss, Hip ... |
ORPHA:85408 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Meningocele, Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Ne... |
OMIM:130720 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Short neck, Postaxial hand polydactyly, Sclerosis of skull base, ... |
OMIM:269150 |
Singleton-Merten Syndrome 2 |
|
Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Scoliosis, Osteopenia |
OMIM:616298 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... |
ORPHA:90363 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... |
OMIM:601952 |
Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Alopecia, Absent eyelashes, Decreased testicular size, Multiple cafe-au... |
OMIM:147770 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Increased susceptibility to fractures, Aspiration pneumonia, Tip-toe gait, Weight loss, Inability... |
ORPHA:216866 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Thickened skin, Melanocytic nevus, Neutropenia, Weight loss, Ocular... |
ORPHA:79430 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Stil... |
OMIM:119800 |
Fanconi Anemia |
|
Abnormal testis morphology, Toe syndactyly, Micrognathia, Hip dislocation, Multiple cafe-au-lait ... |
ORPHA:84 |
Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Wide anterior fontanel, Micrognathia, Joint hypermobility, Nail dysplas... |
OMIM:230740 |
Netherton Syndrome |
|
Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Allergic rhinitis, Asthma, Brittle scalp ha... |
OMIM:256500 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Respiratory insufficiency, Hypothyroidism, Tapered finger, Micrognathia, Thrombocytopenia, Sparse... |
OMIM:620005 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope... |
ORPHA:99827 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Multiple joint contractures, Hallux valgus, Toe syndactyly, Pelvic kidney, Cryptorch... |
ORPHA:464306 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Anemia, Cachexia, Clubbing of fingers, Broad thumb, Midclavicular hypop... |
ORPHA:79076 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
2-ethylhydracylic aciduria, Hypoglycemia, Apneic episodes in infancy |
OMIM:610006 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Hyperphosphaturia, Rachitic rosary, Hypophosphatemic rickets, Low-molecular-weight... |
OMIM:219800 |
Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Methylmalonic aciduria, Elevated urine suberic acid level, Hypogly... |
OMIM:248360 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse body hair, Alopecia, Plantar telangiectasia, Sparse scalp hair, Absent eyelashes, Hydrocel... |
ORPHA:69735 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ichthyosis, Leukonychia, Woolly hair, Parakeratosis, Fragile nails, Hyperkeratosis, Palmoplantar ... |
OMIM:615821 |
Osteootohepatoenteric Syndrome |
|
Anemia, Grade II vesicoureteral reflux, Recurrent fractures, Weight loss, Avascular necrosis of t... |
OMIM:619377 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Spinal rigidity, Follicular hyperkeratosis, Scoliosis, Respiratory insufficiency due to muscle we... |
OMIM:617066 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Absent fourth finger distal interphalangeal crease, Tip-toe gait, Kyphosis, Joint hypermobility, ... |
OMIM:618050 |
Snakebite Envenomation |
|
Respiratory paralysis, Acute kidney injury, Hypopituitarism, Epistaxis, Respiratory failure, Thro... |
ORPHA:449285 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Scoliosis, Arachnodactyly, Slender build, Pes planus |
OMIM:617600 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased body weight, Kyphosis, Micrognathia, Long eyelashes, Decreased hemoglobin concentration... |
OMIM:619005 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Weight loss, Congenital bullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplan... |
ORPHA:312 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Nodular goiter, Parathyroid hyperplasia, Elevated urinary epinephrine, J... |
OMIM:162300 |
Beta-Ketothiolase Deficiency |
|
Weight loss, Ketonuria, Ataxia, Hypoglycemia, Cough, Thrombocytosis, Leukocytosis, Hyperglycemia,... |
ORPHA:134 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyebrow, ... |
ORPHA:894 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Hallux valgus, Kyphosis, Hyperextensibility of the finger joints, Atrophic scars, ... |
OMIM:617821 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Micrognathia, Camptodactyly, Spina bifida occulta, Thoracolumbar kyph... |
OMIM:300373 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Alopecia, Abnormal pulmonary interstitial morphology, Thymoma, Leuk... |
ORPHA:227982 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic monilial nail infection, Fibrocystic lung disease, Hematuria, Recurrent pneumon... |
OMIM:158310 |
Megalocornea-Intellectual Disability Syndrome |
|
Metatarsus valgus, Genu varum, Hypothyroidism, Tapered finger, Kyphosis, Micrognathia, Ataxia, Jo... |
ORPHA:2479 |
Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Kyphosis, Arachnodactyly, Proteinuria, Obesity, Low anterior hairline, Chr... |
ORPHA:261222 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Ivory epiphyses of the phalanges of the hand, Square pelvis ... |
OMIM:216400 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Urinary incontinence, 2-3 toe syndactyly, Aplasia of the 1st metacarpal, Tapered fin... |
ORPHA:476126 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hypoglycemia, Intrauterine growth retardation |
OMIM:231100 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Gait imbalance, Limitation of movement at ankles, Iris hypopigmenta... |
ORPHA:98794 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Alopecia, Abnormal pulmonary interstitial morphology, Thymoma, Leuk... |
ORPHA:227990 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Ataxia, Dystonic gait, Failure to thrive, Difficulty walking, Respiratory failure |
ORPHA:280210 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Blue urine, Decreased circulating... |
ORPHA:94086 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... |
ORPHA:75565 |
Lamellar Ichthyosis |
|
Aplasia/Hypoplasia of the eyebrow, Ichthyosis, Abnormality of the nail, Hyperkeratosis, Renal ins... |
ORPHA:313 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Ketonuria, Abnormal... |
ORPHA:79644 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Congenital posterior occipital a... |
ORPHA:79414 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Weight loss, Sparse axillary hair, Normocytic anemia, De... |
ORPHA:95409 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyebrow, Alopecia, Palmoplantar hyperkeratosis, Woolly hair, Failure to thrive, Acantholys... |
OMIM:607655 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Palmoplantar hyperkeratosis, Onycholysis, Orthokeratotic hyperkeratosis, Streaks of... |
OMIM:148700 |
Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Diabetes insipidus, Death in infancy, Hypoplasia of penis, Ectopic posterior pitu... |
ORPHA:95496 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Tapered finger, Kyphosis, Frontal upsweep of hair, ... |
OMIM:617061 |
Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Aplasia/... |
ORPHA:2769 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... |
ORPHA:91347 |
3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory arrest, Patent ductus arteriosus, 3-Methylglutaconic aciduria, Respiratory failure, N... |
OMIM:617248 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Tapered finger, Short toe, Pelvic kidney, Ankle flexion contracture, Cryptorchidism, Short foot, ... |
ORPHA:464311 |
African Iron Overload |
|
Abnormal thyroid morphology, Increased circulating cortisol level, Abnormality of adrenal morphol... |
ORPHA:139507 |
Hardikar Syndrome |
|
Hepatosplenomegaly, Pulmonary artery stenosis, Thrombocytopenia, Splenomegaly, Vesicoureteral ref... |
OMIM:301068 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Respiratory insufficiency, Contractures of the large joints, Kyphosis, Micrognathia, Palmoplantar... |
OMIM:617527 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Aplasia/Hypoplasia of the tibia, Anterior pituitary hypoplasia, Patellar hypoplasia,... |
ORPHA:1827 |
Pearson Syndrome |
|
Reticulocytosis, Lacticaciduria, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Hy... |
ORPHA:699 |
Plaa-Associated Neurodevelopmental Disorder |
|
Respiratory insufficiency, Contractures of the large joints, Kyphosis, Hyperextensibility of the ... |
ORPHA:521426 |
Pfapa Syndrome |
|
Weight loss, Arthritis, Recurrent pharyngitis, Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Riboflavin Deficiency |
|
Hypoglycemia, Dicarboxylic aciduria |
OMIM:615026 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia, Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Ichthyosis, Brittle hair, Congenital nonbullous ichthyosiform erythroderma, F... |
OMIM:618546 |
Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Sea-blue histiocytosis, Death in infancy, Ataxia, Bone-marrow foam cel... |
OMIM:607625 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Small nail, Malaligned carpal bone, Patellar disloc... |
OMIM:228900 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Micrognathia, Aplasia/hypoplasia... |
OMIM:134780 |
Sarcoidosis |
|
Abnormal lymph node morphology, Hypothyroidism, Pneumothorax, Bronchiectasis, Scarring, Pleural e... |
ORPHA:797 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss, Pes valgus |
OMIM:620045 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, 3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia, Bile duc... |
OMIM:618329 |
Sheehan Syndrome |
|
Hyposthenuria, Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradi... |
ORPHA:91355 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hyperlordosis, Clinodactyly of the 2nd finger, Hypoplastic sweat glands, Thickened skin, Epiderma... |
ORPHA:73223 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Renal malrotation, Multilobulated spleen, Horseshoe kidney, Pelvic kidn... |
OMIM:601186 |
Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Coronal craniosynostosis, Microretrogna... |
OMIM:616294 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyebrow, Enamel hypoplasia, Scarring alopecia of scalp, Nail dysplasia, Sparse e... |
OMIM:612843 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Decreased testicular size, Bilateral cryptorchidism, Pulmonary artery hypoplasia, Delayed puberty... |
ORPHA:2326 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Renal... |
OMIM:614736 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Iris hypopigmentation, Overlapping toe, Short neck, Bilateral talipes equinovarus, ... |
ORPHA:177907 |
Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Increased bone mineral density, Choreoathetosis, Short neck, Reduced bone m... |
ORPHA:79443 |
Cerebrotendinous Xanthomatosis |
|
Respiratory insufficiency, Ankle clonus, Ataxia, Difficulty walking, Cholelithiasis, Osteoporosis |
OMIM:213700 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Weight loss, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils, Fa... |
ORPHA:33355 |
Wilson Disease |
|
Aminoaciduria, Pedal edema, Chondrocalcinosis, Splenomegaly, Anemia, Hemolytic anemia, Osteomalac... |
OMIM:277900 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Failure to thrive, Abnormality of hair texture, Pes planus |
ORPHA:88618 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Acromegaly |
|
Wide penis, Broad foot, Thickened skin, Tapered finger, Anterior hypopituitarism, Synophrys, Long... |
ORPHA:963 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia |
ORPHA:79159 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Genu varum, Abnormality of renal excretion, Coxa vara, Osteomalacia, Abn... |
ORPHA:289176 |
Lysinuric Protein Intolerance |
|
Respiratory insufficiency, Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, ... |
ORPHA:470 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Arrhinencephaly, Talipes equinovarus, Radioulnar synostosis, Microretrognathia... |
ORPHA:1788 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Respiratory insufficiency, Abnormal pleura morphology, Pulmonary in... |
ORPHA:183 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased respo... |
ORPHA:95494 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Ichthyosis, Failure to thrive, Fragile nails, Palmoplantar keratoderma, Sparse hair |
OMIM:242150 |
Sarcoidosis, Susceptibility To, 1 |
|
Bronchiectasis, Generalized lymphadenopathy, Pleural effusion, Bone cyst, Splenomegaly, Abnormal ... |
OMIM:181000 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Progressive calcification of costochondral cartilage, M... |
OMIM:271665 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyebrow, Alopecia, Enamel hypoplasia, Ichthyosis, Orthokeratosis, Parakeratosis, Bile duct... |
OMIM:607626 |
Phocomelia, Schinzel Type |
|
Meningocele, Humeroradial synostosis, Micrognathia, Nail dysplasia, Short neck, Ectrodactyly, Apl... |
ORPHA:2879 |
Glycogen Storage Disease Iii |
|
Hypoglycemia |
OMIM:232400 |
Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Flexion contracture, Kyphosis, Scarring, Gait disturbance, Ataxia, Male hypogo... |
ORPHA:90322 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Fair hair, Nail dysplasia, Blue irides, Sparse eyelashes, Sparse hair, Vesicouret... |
OMIM:129900 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Micrognathia, Chylothorax, Arachnodactyly, Neonatal respiratory distress, Thymu... |
OMIM:619036 |
Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Hypothyroidism, Kyphosis, Abnormality of the nail, Failure ... |
ORPHA:349 |
Micro Syndrome |
|
Kyphosis, Micrognathia, Hypoplasia of penis, Abnormality of retinal pigmentation, Delayed puberty... |
ORPHA:2510 |
Kid Syndrome |
|
Knee flexion contracture, Sparse eyebrow, Trichilemmoma, Coxa valga, Patellar hypoplasia, Arthrit... |
ORPHA:477 |
Idiopathic Trachyonychia |
|
Toenail dysplasia, Ichthyosis, Fingernail dysplasia, Thin nail, Nail pits, Circumungual hyperkera... |
ORPHA:79153 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse body hair, 2-3 toe syndactyly, Patent ductus arteriosus, Absent eyelashes, Supernumerary n... |
OMIM:106260 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Athetosis, Proximal renal tubular acidosis |
OMIM:266150 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Pulmonary arterial hypertension, Anemia, Weight loss, Hyp... |
ORPHA:275761 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... |
ORPHA:361 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Increased level of 3-hydroxy-3-methylglutaric acid in urine, Organic aciduria, Hypoglycem... |
OMIM:246450 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... |
OMIM:615024 |
Ichthyosis Prematurity Syndrome |
|
Generalized ichthyosis, Allergic rhinitis, Asthma, Alopecia of scalp, Hyperpigmentation of the sk... |
OMIM:608649 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hypopigmentation of the skin, Enamel hypoplasia, Anemia, Scarring, Atrophic scars, Onyc... |
ORPHA:79396 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Loss of ambulation, Choreoathetosis, Hypogl... |
ORPHA:391428 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Adult Syndrome |
|
Alopecia, Toenail dysplasia, Sparse scalp hair, Melanocytic nevus, Finger syndactyly, Toe syndact... |
ORPHA:978 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr... |
OMIM:614700 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hypoglycemia, Splenomegaly |
ORPHA:664 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Respiratory distress, Anaplastic thyroid carcinoma, Lymphadenopathy,... |
ORPHA:142 |
Adrenoleukodystrophy |
|
Urinary incontinence, Alopecia, Urinary bladder sphincter dysfunction, Hypogonadism, Truncal atax... |
OMIM:300100 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Arrhythmia, Bradycardia, Tach... |
ORPHA:94093 |
Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Dicarboxylic aciduria, Respiratory distress, Failure to thrive, Recurre... |
OMIM:212140 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
3-Methylglutaconic aciduria, Hypoventilation, Ataxia, Failure to thrive, Bile duct proliferation,... |
OMIM:203700 |
Proteus-Like Syndrome |
|
Irregular hyperpigmentation, Thymus hyperplasia, Polycystic ovaries, Heterochromia iridis, Hypero... |
ORPHA:2969 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Wilson Disease |
|
Back pain, Anemia, Weight loss, Arthritis, Failure to thrive, Difficulty walking, Thrombocytopeni... |
ORPHA:905 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Multiple joint contractures, Micrognathia, Epidermal hyperkeratosis, Pul... |
ORPHA:1662 |
46,Xy Partial Gonadal Dysgenesis |
|
Adrenal insufficiency, Increased circulating gonadotropin level, Primary gonadal insufficiency, D... |
ORPHA:251510 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia |
ORPHA:35 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Protrusio acetabuli, Hypoplastic pulmonary veins, Recurrent fractures, Coxa ... |
OMIM:610682 |
Atrophoderma Vermiculata |
|
Atrophic scars, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Juvenile Huntington Disease |
|
Gait ataxia, Weight loss, Ataxia, Progressive cerebellar ataxia, Broad-based gait |
ORPHA:248111 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Elbow flexion contracture, Kyphosis, Calf muscle hypertrophy |
OMIM:618138 |
Sepsis In Premature Infants |
|
Hypotension, Bradycardia, Tachycardia |
ORPHA:90051 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
Hypotrichosis 6 |
|
Sparse eyebrow, Pili torti, Brittle hair, Follicular hyperkeratosis, Sparse eyelashes, Sparse hair |
OMIM:607903 |
Chronic Graft Versus Host Disease |
|
Flexion contracture, Pneumothorax, Thickened skin, Bronchiectasis, Fasciitis, Pleural effusion, A... |
ORPHA:99921 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, T lymphocytopeni... |
OMIM:618223 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Genu valgum, Flexion contracture, Generalized hypopigmentation, Decreased testicular si... |
OMIM:619321 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Hypopigmented sk... |
ORPHA:3143 |
Thymoma |
|
Weight loss, Rheumatoid arthritis, Pure red cell aplasia, Glomerulonephritis, Scleroderma, Neopla... |
ORPHA:99867 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Dentinogenesis imperfecta, Bowing of limbs due to multiple... |
OMIM:166220 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Osteomyelitis, Kyphosis, Camptodactyly, Bone spicule pigmentation of the retina, Ata... |
ORPHA:88628 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Renal salt wasting, Adrenal hyperplasia, Hypospadias, Hypoglycemia |
OMIM:201910 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Short palm, Cachexia, Brachydactyly |
ORPHA:3217 |
Fabry Disease |
|
Respiratory insufficiency, Diabetes insipidus, Anemia, Nephrotic syndrome, Arthritis, Hematuria, ... |
ORPHA:324 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Knee flexion contracture, Sparse eyebrow, Ichthyosis, Corneal scarring, Elbow flexion contracture... |
OMIM:148210 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Vertebral segmentation defect, Phocomelia, Split hand, Aplasia of the thymus |
ORPHA:3004 |
Somatomammotropinoma |
|
Broad foot, Thickened skin, Tapered finger, Anterior hypopituitarism, Synophrys, Generalized hype... |
ORPHA:314769 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Schneckenbecken Dysplasia |
|
Hypoplastic toenails, Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thicken... |
ORPHA:3144 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Hutchinson-Gilford Progeria Syndrome |
|
Coxa valga, Pubertal developmental failure in females, Micrognathia, Hip dislocation, Alopecia to... |
ORPHA:740 |
Focal Dermal Hypoplasia |
|
Short phalanx of finger, Bifid ureter, Short 4th metacarpal, Toe syndactyly, Supernumerary nipple... |
OMIM:305600 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormality of the lower limb |
ORPHA:2023 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory insufficiency, 3-hydroxydicarboxylic aciduria, Death in infancy, Ataxia, Lacticacidur... |
OMIM:252010 |
Brachyolmia Type 3 |
|
Short femoral neck, Kyphosis, Clinodactyly, Proximal femoral metaphyseal irregularity, Short neck... |
OMIM:113500 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Hemorrhagic Fever-Renal Syndrome |
|
Decreased body weight, Acute tubulointerstitial nephritis, Pleural effusion, Glomerulonephritis, ... |
ORPHA:340 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:86893 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Broad foot, Humeroradial synostosis, Vesicovaginal fistula, Adrenal insufficiency, Decreased circ... |
OMIM:201750 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Joint laxity, Pes planus, Scoliosis, Cryptorchidism, Slender build, Micropenis, Genu re... |
ORPHA:364028 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... |
ORPHA:348 |
Yunis-Varon Syndrome |
|
Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Micrognathia, Hip di... |
OMIM:216340 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Gait disturbance, Ataxia, Pes cavus, Scoliosis |
ORPHA:99014 |
Zttk Syndrome |
|
Flexion contracture, Broad eyebrow, Unilateral lung agenesis, Cervical ribs, Polyuria, Hemiverteb... |
OMIM:617140 |
Follicular Lymphoma |
|
Weight loss, Pleural effusion, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Increased susceptibility to fractures, Osteomyelitis leading to amputation due to slow healing fr... |
OMIM:256810 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Anemia, Weight loss, Hematuria, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Huntington Disease-Like 1 |
|
Gait ataxia, Weight loss, Gait disturbance, Dysmetria, Abnormal shoulder morphology |
ORPHA:157941 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Vesicoureteral reflux, Short phalanx of finger, Patent ductus arteriosus, Kyphosis... |
OMIM:616894 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Overlapping toe, Abnor... |
ORPHA:798 |
Localized Scleroderma |
|
Flexion contracture, Thickened skin, Arthritis, Fasciitis, Progressive loss of facial adipose tis... |
ORPHA:90289 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Splenomegaly, Anemia, Moderate albuminuria, Micrognathia, Membranoproliferative glomerulonephriti... |
OMIM:619525 |
Hypotrichosis 5 |
|
Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha... |
OMIM:612841 |
Coffin-Siris Syndrome 1 |
|
Coxa valga, Spina bifida occulta, Dislocated radial head, Thick eyebrow, Aplasia/Hypoplasia of th... |
OMIM:135900 |
Xeroderma Pigmentosum |
|
Aminoaciduria, Alopecia, Thickened skin, Melanocytic nevus, Hypogonadism, Decreased testicular si... |
ORPHA:910 |
Nocardiosis |
|
Lymphadenitis, Pneumothorax, Osteomyelitis, Weight loss, Productive cough, Cellulitis, Pleuritis,... |
ORPHA:31204 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Hypopigmented streaks, Kyphosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Anemia, Flexion contracture, Short 4th metacarpal, Finger syndactyly, Sh... |
ORPHA:2908 |
Kallmann Syndrome |
|
Ichthyosis, Recurrent fractures, Anterior hypopituitarism, Decreased testicular size, Hypothalami... |
ORPHA:478 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Failure to thrive, Paroxysmal dyspnea, Stridor |
ORPHA:444013 |
Griscelli Syndrome Type 2 |
|
Pulmonary infiltrates, Neutropenia, Premature graying of hair, Iris hypopigmentation, Pancytopeni... |
ORPHA:79477 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Anemia, Polysplenia, Microretrognathia, Joint hypermobility, Neonatal hypoglycemia, Failure to th... |
OMIM:619418 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Hypochromic anemia, Ataxia,... |
ORPHA:2720 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anemia, Ocular albinism, Iris hypopigmentation, Limitation of joint mobility, Abnormal thumb morp... |
ORPHA:2719 |
Listeriosis |
|
Septic arthritis, Back pain, Stiff neck, Osteomyelitis, Hepatic granulomatosis, Acute kidney inju... |
ORPHA:533 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Abnormality of retinal pigmentation |
ORPHA:5 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Long penis, Primar... |
ORPHA:90794 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Abnormality of the pulmonary artery, Hypopigmented skin patches, White... |
ORPHA:895 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Micrognathia, Sparse eyelashes, Alopecia |
OMIM:616367 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Int... |
OMIM:618835 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Ataxia, Hypopigmented skin patches, Hyp... |
ORPHA:2885 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, 3-hydroxyisovaleric aciduria, Apnea, Failure to thrive, Hypoglycemia, Elevated urinary... |
OMIM:210200 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Intrauterine growth retardation, Death in infancy |
OMIM:610678 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... |
OMIM:614929 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Int... |
OMIM:618839 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Micrognathia, Hip dislocation, Metatarsus adductus, Short hallux, Abnormal st... |
OMIM:194190 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Chondrocalcinosis, Parathyroid adenoma, T... |
ORPHA:99880 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Bronchiectasis, Hepatosplenomegaly, Generalized osteoporosis, Thrombocytopenia... |
ORPHA:391487 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Kyphosis, Micrognathia, Congenital diaphragmatic hernia, Hypospadia... |
ORPHA:2075 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Sparse eyebrow, Curly hair, Palmoplantar cutis laxa, Cafe-au-lait spot,... |
OMIM:605275 |
Shigellosis |
|
Hemolytic-uremic syndrome, Acute kidney injury, Arthritis, Microangiopathic hemolytic anemia, Hyp... |
ORPHA:810 |
Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Abnormality of the nail, Reticular hyperpigm... |
OMIM:262020 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Shoulder dislocation, Tarsal sclerosis, Coxa valga, Inability to walk, Splenomegaly, Reduced bone... |
ORPHA:404454 |
Pallister-Killian Syndrome |
|
Short phalanx of finger, Broad foot, Flexion contracture, Inability to walk, Micrognathia, Hip di... |
OMIM:601803 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Primary Sclerosing Cholangitis |
|
Splenomegaly, Weight loss, Thyroiditis, Abnormal eosinophil morphology, Type I diabetes mellitus,... |
ORPHA:171 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ichthyosis |
OMIM:242510 |
Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Decreased mobility 3rd-5th fingers, M... |
OMIM:164900 |
Polymyositis |
|
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Weight... |
ORPHA:732 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Thrombocytopenia, Osteopetrosis, Hypochromic microcytic anemia |
ORPHA:3240 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... |
OMIM:114000 |
Isolated Complex I Deficiency |
|
Respiratory insufficiency, Proximal tubulopathy, Ataxia, Failure to thrive, Diabetes mellitus, Hy... |
ORPHA:2609 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation, Adrenal insufficiency, Apnea, Hypoglycemia, Adrenal hypoplasia |
OMIM:240200 |
Noonan Syndrome 14 |
|
Sparse eyebrow, Curly hair, Kyphosis, Clinodactyly, Lymphopenia, Pes valgus, Short neck, Cryptorc... |
OMIM:619745 |
Lichen Planopilaris |
|
Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis |
ORPHA:525 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... |
OMIM:250220 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory tract infection, Respiratory distress, Failure to thrive, ... |
ORPHA:308552 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Kyphosis, Micrognathia, Postaxial foot polydactyly, Scoliosis, Cryptorchidism... |
ORPHA:404440 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Acute kidney injury, Decreased urine output, Hypoxemia, Pleural effusion, Respir... |
ORPHA:542323 |
Glucocorticoid Deficiency 1 |
|
Abnormal response to ACTH stimulation test, Increased circulating ACTH level, Decreased circulati... |
OMIM:202200 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Micrognathia, Hip dislocation, Pulmonary hypoplasia, Short neck, Abnormal eye... |
ORPHA:818 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
Lymphatic Malformation 4 |
|
Toenail dysplasia, Pedal edema, Cellulitis, Hydrocele testis, Hyperkeratosis |
OMIM:615907 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Abnormal fingernail morphology, A... |
ORPHA:428 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Recurrent upper respiratory tract infections |
OMIM:620137 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Ankle clonus, Kyphosis, Nocturnal hypoventilation, Respiratory distres... |
OMIM:211530 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, 2-3 toe syndactyly, Kyphosis, Recurrent pneumonia, Hypospadias, ... |
OMIM:616449 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Complete duplication of thumb phalanx, Finger syndactyly,... |
ORPHA:568 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Camptodactyly, Spontaneous pneumothorax, Talipes equinovarus, Protrusio acetabuli, ... |
OMIM:610168 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Parakeratosis, Kyphoscoliosis, Hyperkeratosis |
OMIM:618339 |
Duane Retraction Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Patchy hypopigme... |
ORPHA:233 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Precocious puberty, Clinodactyly of the 5th finger, Overlapping toe, Na... |
OMIM:616682 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Gener... |
ORPHA:3322 |
Cole Disease |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Hyperglycemia, Palmoplantar... |
OMIM:615522 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Atrophic scars, Bladder diverticulum, Pes planus, Inguinal hernia, Kyph... |
OMIM:614557 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hyperuricosuria, Weight loss, Ost... |
ORPHA:3337 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Organic aciduria, Failure to thrive, Hypoglycemia, Hyperglycinuria |
OMIM:210210 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Ocular albinism, Horizontal eyebrow, Abnormal eyebrow mo... |
ORPHA:1606 |
Reactive Arthritis |
|
Respiratory insufficiency, Abnormal pleura morphology, Osteomyelitis, Weight loss, Enthesitis, Ar... |
ORPHA:29207 |
Alexander Disease |
|
Respiratory insufficiency, Hyperlordosis, Hypothyroidism, Precocious puberty, Kyphosis, Hyperpigm... |
ORPHA:58 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Sparse eyebrow, Curly hair, Palmoplantar cutis laxa, Cafe-au-lait spot,... |
OMIM:616564 |
Björnstad Syndrome |
|
Alopecia, Hypogonadism, Brittle hair |
ORPHA:123 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Bowing of the long bones, Anemia, Recurrent fractures, Recurrent... |
ORPHA:667 |
Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia, Osteoporosis, Myelofibrosis |
OMIM:616937 |
Lipoid Proteinosis |
|
Thickened skin, Scarring, Alopecia of scalp, Hyperkeratosis, Recurrent respiratory infections |
ORPHA:530 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Death in infancy, Hepatocellular necrosis, Exercise-induced myoglobinuria, Nonketotic hypoglycemi... |
OMIM:201475 |
Truncus Arteriosus |
|
Patent ductus arteriosus, Hypoplasia of the thymus, Anomalous origin of one pulmonary artery from... |
ORPHA:3384 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Melanocytic nevus, Spina bifida, Hemiatrophy, Pheochromocytoma, Hypophosphate... |
ORPHA:2874 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Hypothyroidism, Multicystic kidney dysplasia, Finger syndactyly, Toe sy... |
ORPHA:1556 |
Cystic Fibrosis |
|
Pneumothorax, Recurrent respiratory infections, Bronchiectasis, Asthma, Failure to thrive, Airway... |
ORPHA:586 |
Lateral Meningocele Syndrome |
|
Meningocele, Hyperlordosis, Kyphosis, Micrognathia, Craniofacial hyperostosis, Inguinal hernia, S... |
ORPHA:2789 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Melanocytic nevus, Kyphosis, Hyperextensibility of the finger joints, Reduced subcutaneous adipos... |
OMIM:616914 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Asthma, Palmoplantar keratoderma, Hyperkeratosis, Anonychia, Nail dystrophy |
OMIM:616029 |
Orthostatic Hypotension 1 |
|
Nocturia, Neonatal hypoglycemia, Reduced circulating prolactin concentration, Joint hypermobility... |
OMIM:223360 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Long eyelashes, Neonatal hypoglycemia, Broad lateral eyebrow, Brachydactyly, Obesity |
OMIM:608624 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Methylmalonic aciduria, Hemolytic-uremic syndrome, Pulmonary emb... |
ORPHA:79282 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Aplastic anemia, Acute lymphoblastic leukemia |
OMIM:223370 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Cryptorchidism |
ORPHA:461 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Alopecia, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Li... |
ORPHA:90156 |
Kleefstra Syndrome 2 |
|
Thick eyebrow, Scoliosis, Kyphosis |
OMIM:617768 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Tapered finger, Small for gestational age, Micrognathia, Hypoglycemia, Broad thumb, Umbilical her... |
OMIM:614501 |
Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Inability to walk, Secondary hyperparathyroidism, Ovarian carcinoma, N... |
ORPHA:273 |
Tyrosinemia, Type I |
|
Anemia, Enlarged kidney, Glomerular sclerosis, Failure to thrive, Hypoglycemia, Hypophosphatemic ... |
OMIM:276700 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Alopecia of scalp, Freckling, Hypermelanotic macule, Palmoplantar ... |
OMIM:618373 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Osteomyelitis, Weight loss, Increased circ... |
ORPHA:171876 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Fine hair, Lymphopenia, Inguinal hernia, White hair, Long fibula, Abnormal metaphysis mor... |
ORPHA:935 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Yao Syndrome |
|
Weight loss, Asthma, Arthritis, Pleuritis, Nephrolithiasis |
OMIM:617321 |
Non-Acquired Panhypopituitarism |
|
Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased response to growth... |
ORPHA:90695 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Ataxia, Myelopathy, Cervical myelopathy, Respiratory failure, Death in childhood |
OMIM:617186 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis, Decreased... |
OMIM:143880 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly |
OMIM:261750 |
Kaposi Sarcoma |
|
Weight loss, Generalized lymphadenopathy, Abnormality of the lower limb, Abnormal lung morphology... |
ORPHA:33276 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Intraalveolar phospholipid accumulation, Weight loss, Hypoxemia, Clubbing, Crackles, Restrictive ... |
ORPHA:747 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Subcutaneous lipoma, Pelvic kidney, Lipoma, Peripheral pulmon... |
OMIM:613001 |
Odontoonychodermal Dysplasia |
|
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Hypergranulosi... |
OMIM:257980 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Polydactyly, Alopecia, Dry hair, Myelomeningocele, Enamel hypoplasia, Polycysti... |
OMIM:311200 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Ataxia, Congenital nonbullous ichthyosiform erythroderma |
OMIM:275630 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:619483 |
Cog8-Cdg |
|
Failure to thrive, Hypoglycemia, Ataxia |
ORPHA:95428 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Mandibular aplasia, Abnormality of skin pigmentation, Abnormal testis morphology, ... |
ORPHA:2556 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Lymphadenopathy, Hernia, Weight loss |
ORPHA:26790 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Anemia, Weight loss, Arthritis, Abnormal pattern of respiration |
ORPHA:3287 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Multicystic kidney dysplasia, Kyphosis, Hydroureter, Micrognathia, Radio... |
ORPHA:2461 |
Immunodeficiency 59 And Hypoglycemia |
|
High anterior hairline, Micrognathia, Hypoglycemia, Recurrent upper respiratory tract infections,... |
OMIM:233600 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Recurrent bronchopulmonary infections, Lymphopenia, Emphysema,... |
OMIM:242700 |
Immunodeficiency 31C |
|
Hypothyroidism, Osteomyelitis, Bronchiectasis, Weight loss, Lymphopenia, Impaired lymphocyte tran... |
OMIM:614162 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
Distal Monosomy 19P13.3 |
|
Alopecia, Keloids, Vaginal hernia, Long toe, Joint hyperflexibility, Arachnodactyly, Thick eyebro... |
ORPHA:96129 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Coxa valga, Kyphosis, Reduced alpha/beta synthesis ratio, Clinodactyly, Hypochrom... |
OMIM:301040 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Abnormality of the knee, Generalized hypopigmentation, Palmoplantar hyperkeratosis, Spotty hyperp... |
ORPHA:158681 |
Systemic Capillary Leak Syndrome |
|
Pedal edema, Weight loss, Pulmonary edema, Pleural effusion, Cardiorespiratory arrest, Rhinorrhea... |
ORPHA:188 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Spontaneous, recurrent... |
OMIM:614072 |
Juvenile Dermatomyositis |
|
Alopecia, Weight loss, Arthritis, Limitation of joint mobility, Restrictive ventilatory defect, D... |
ORPHA:93672 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Flexion contracture, Kyphosis, Inability to walk, Pes cavus, Scoliosis, Absent Achi... |
OMIM:609541 |
Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Micrognathia, Parathyroid hypoplasia, Hypoparathyroidism... |
OMIM:214800 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Anemia, Flexion contracture, Hip contracture, Irregular vertebral endplates, Kyphosis, Posterior ... |
ORPHA:3042 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Ketonuria, Apnea, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Aminoaciduria, Hyperphosphaturia, Hip dislocation, Low-molecular-weight ... |
OMIM:309000 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Ring Chromosome 13 Syndrome |
|
Urogenital sinus anomaly, Alopecia, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypop... |
ORPHA:96176 |
Wrinkly Skin Syndrome |
|
Palmoplantar cutis laxa, Sparse hair, Deep plantar creases, Talipes equinovarus, Short nail, Cong... |
OMIM:278250 |
Immunodeficiency 7 |
|
Hypereosinophilia, Neutropenia, Failure to thrive, Autoimmune hemolytic anemia, Lymphadenopathy, ... |
OMIM:615387 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Thickened skin, Kyphosis, Spinal rigidity, Micrognathia, Abnormal intervertebral disk morphology,... |
ORPHA:2062 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Decreased circulating aldosterone level, Increased circulating cortisol level, Primary ... |
ORPHA:3453 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Femoral retroversion, Death in early adulthood, Scoliosis, Micromelia, Hypoplastic scap... |
ORPHA:79107 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
Glutaric Acidemia I |
|
Ketonuria, Choreoathetosis, Failure to thrive, Hypoglycemia, Glutaric aciduria |
OMIM:231670 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ichthyosis, Neurogenic bladder, Ataxia, Parakeratosis, Dysmetria, Acanthosis nigricans, Hyperkera... |
OMIM:618527 |
Isaacs Syndrome |
|
Weight loss, Calf muscle hypertrophy |
ORPHA:84142 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Pulmo... |
ORPHA:3426 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Weight loss, Ketonuria, Nonketotic hypoglycemia, Ataxia, Apnea, Thrombocytosi... |
ORPHA:20 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Respiratory insufficiency, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Dyspnea, Hy... |
OMIM:615084 |
Viss Syndrome |
|
Hypothyroidism, Pneumothorax, Micrognathia, Butterfly vertebrae, Hip dislocation, Hirsutism, Cont... |
OMIM:619472 |
Trisomy 9P |
|
Sacral dimple, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Clinodactyly of the 5th fing... |
ORPHA:236 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Myelomeningocele, Kyphosis, Death in infancy, Spina bi... |
ORPHA:1393 |
Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Hyperextensibility of the finger joints, Scoliosis, Arachnodactyly, Obstructive sleep a... |
OMIM:609008 |
Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Anemia, Exertional dyspnea, Weight loss, Lymphocytosis, Hypochromic anemi... |
ORPHA:514 |
Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Protrusio acetabuli, Patent ductus arteriosus, Intervertebral disc degen... |
ORPHA:284984 |
Castleman Disease |
|
Anemia, Renal insufficiency, Weight loss, Hematuria, Generalized lymphadenopathy, Myelofibrosis, ... |
ORPHA:160 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly |
OMIM:306000 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Dicarboxylic aciduria, Hypoglycemia, Thrombocytopenia, Death in childhood |
OMIM:611126 |
Pontocerebellar Hypoplasia, Type 17 |
|
Respiratory insufficiency, Patent ductus arteriosus, Kyphosis, Microretrognathia, Intrauterine gr... |
OMIM:619909 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Aplastic clavicle, Wide anterior fontanel, Kyphosis, Coronal craniosynostosis, Micrognathia, Abse... |
ORPHA:85199 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Follicular hyperkeratosis |
OMIM:615147 |
Adrenocortical Carcinoma |
|
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Weight loss, Incr... |
ORPHA:1501 |
Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:605373 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Ketonuria, Glycosuria, Failure to thrive, Postprandial hyperglycemia |
ORPHA:2089 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... |
OMIM:145250 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Melanocytic nevus, Generalized hyperpigmentation, Freckling, Multiple cafe-au... |
ORPHA:636 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Weight loss, Areflexia of lower limbs, Cachexia, Death in early adulthood, Slender build |
OMIM:603041 |
Poliomyelitis |
|
Stiff neck, Inability to walk, Absent tonsils, Respiratory failure, Respiratory failure requiring... |
ORPHA:2912 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Premature thelarche... |
ORPHA:90795 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Failure to thrive, Hypoglycemia, Death in infancy |
OMIM:617049 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Thrombocytop... |
OMIM:251880 |
Huntington Disease |
|
Gait imbalance, Weight loss, Inability to walk, Gait disturbance, Difficulty walking, Decreased b... |
ORPHA:399 |
Biotinidase Deficiency |
|
Alopecia, Ataxia, Organic aciduria, Apnea, Splenomegaly, Tachypnea |
OMIM:253260 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pleural effusion, Glomerulonephritis,... |
ORPHA:1304 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Enamel hypoplasia, Foot joint contracture, Flexion contracture, Anemia, Urinary bladder sphincter... |
ORPHA:79408 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... |
ORPHA:980 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Ketonuria, Increased urine alpha-ketoglutarate concentration, Dea... |
OMIM:619355 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Increased circulating free T3, Onycholysis, Decreased thyroid-stimulating hormone le... |
OMIM:275000 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Acrokeratosis Verruciformis Of Hopf |
|
Leukonychia, Hypergranulosis, Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, ... |
ORPHA:79151 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Cholera |
|
Palmoplantar cutis laxa, Abnormality of renal excretion, Aspiration pneumonia, Acute kidney injur... |
ORPHA:173 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Ketonuria |
OMIM:615453 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Slender build, Long foot, Scoliosis, Kyphosis |
OMIM:300676 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Kyphosis, Bronchiectasis, Micrognathia, Pulmonary hypoplasia, Interstit... |
OMIM:619708 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Abnormal pulmonary interstitial morphology, Splenomegaly, Hypersplenism, Acute pr... |
ORPHA:77293 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Enamel hypoplasia, Flexion contracture, Anemia, Corneal scarring, Atrophic scars, Nail ... |
OMIM:226600 |
Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Melanocytic nevus, Neonatal hypoglycemia, Hypoglycemia, Nephrolithiasis, Splenome... |
ORPHA:116 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Knee flexion contracture, High anterior hairline, Genu valgum, Hip contracture, Kyphosis, Hydrour... |
OMIM:619194 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Abnormal granulocyte morphology, Ataxia, Congenital nonbullous ichthyosiform erythroder... |
ORPHA:98907 |
Chediak-Higashi Syndrome |
|
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Leukopenia, Anemia, Ocular albini... |
OMIM:214500 |
Peeling Skin Syndrome 4 |
|
Ichthyosis, Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy |
OMIM:607936 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Hyperinsulinemia, Decreased serum es... |
ORPHA:3464 |
Hirschsprung Disease |
|
Adducted thumb, Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Recurrent respiratory infections |
ORPHA:364 |
Multiple Myeloma |
|
Anemia, Weight loss, Nephrotic syndrome, Acute kidney injury, Pleural effusion, Nephropathy, Lymp... |
ORPHA:29073 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Anemia, Abnormality of skin pigmentation, Decreased testicular size, Failure to thrive,... |
OMIM:620040 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Enamel hypoplasia, Sparse lateral eyebrow, Yellow nails, Onycholysis, Ridged nail, Nail... |
OMIM:614564 |
Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Progressive forearm bowing, Tarsometatarsal synostosis, Carpometacarpal ... |
OMIM:600383 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Fine hair, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis, Abn... |
ORPHA:1028 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Normochromic microcytic anemia, Bilateral cryptorchi... |
ORPHA:66634 |
Mercury Poisoning |
|
Acute kidney injury, Interstitial pneumonitis, Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:330021 |
Frontonasal Dysplasia 2 |
|
Sparse eyebrow, Encephalocele, Bilateral cryptorchidism, Fine hair, Alopecia totalis, Sparse hair... |
OMIM:613451 |
Naxos Disease |
|
Sparse body hair, Sparse eyebrow, Curly hair, Woolly hair, Onycholysis, Diffuse palmoplantar hype... |
OMIM:601214 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Kyphosis, Apnea, Scoliosis, Stridor, Arthrogryposis multiplex congenita, Pes planus |
OMIM:617143 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Dyspnea, Cough, Mediastinal lymphadenopathy |
ORPHA:99868 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Broad thumb, Patchy alopecia, Brachydactyly, Sparse hair, Broad distal phalanx of... |
OMIM:617763 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Ataxia, Numerous pigmented freckles |
ORPHA:220295 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Hypothyroidism, Premature thelarche, Ketonuria, Gait disturbance, Ataxia, Hypoglycem... |
OMIM:616878 |
Marburg Hemorrhagic Fever |
|
Hypotension, Hypovolemia, Internal hemorrhage, Shock, Pericarditis, Capillary leak, Subconjunctiv... |
ORPHA:99826 |
Pmm2-Cdg |
|
Multiple joint contractures, Impaired neutrophil chemotaxis, Aspiration pneumonia, Insulin resist... |
ORPHA:79318 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Pulmonary edema, Ketonuria, Small for gestational age, Death in infancy, Micrognathia, Truncal at... |
OMIM:220111 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:620133 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Foot polydactyly, Enlarged kidney, Hydrocele testis, Abnormality of the lymphat... |
ORPHA:276280 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyebrow, Scarring alopecia of scalp, Follicular hyperkeratosis, Sparse eyelashes, Palmopla... |
OMIM:308800 |
Mend Syndrome |
|
Sacral dimple, 2-3 toe syndactyly, Polydactyly, Crossed fused renal ectopia, Ichthyosis, Kyphosis... |
OMIM:300960 |
Eosinophilic Fasciitis |
|
Weight loss, Cellulitis, Arthritis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... |
ORPHA:137675 |
Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate, Hypoglycemia |
OMIM:618182 |
Tuberous Sclerosis Complex |
|
Respiratory tract infection, Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumo... |
ORPHA:805 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Adrenal h... |
ORPHA:90790 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory insufficiency, Patent ductus arteriosus, Death in infancy, Ataxia, Dyspnea, Respirato... |
OMIM:610505 |
Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Parakeratosis, Thrombocytopenia, Hyperkerato... |
ORPHA:398124 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary interstitial morphology, Weight loss, Increased circulating cortisol level, As... |
ORPHA:97287 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Hip subluxation, Bilateral camptodactyly, Kyphosis, Synophrys, Overlapping toe, Scoliosis, Short ... |
OMIM:619557 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Pancytopenia, Lymphade... |
ORPHA:507 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Ataxia, Hypopigmentation of ... |
ORPHA:411511 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Hypothyroidism, Premature thelarche, Tapered finger, Hallux valgus, Breast aplasia, ... |
ORPHA:268261 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Follicula... |
OMIM:613102 |
Sotos Syndrome |
|
Pedal edema, 2-3 toe syndactyly, Flexion contracture, Hypothyroidism, Congenital posterior urethr... |
ORPHA:821 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Hypoglycemia |
OMIM:300559 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Brittle hair, Ataxia, Lacticaciduria, Failure to thr... |
OMIM:124000 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Chronic Mucocutaneous Candidiasis |
|
Hematuria, Abnormality of the nail, Abnormal fingernail morphology, Broad nail, Cough, Abnormal t... |
ORPHA:1334 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Fine hair, Abnormal fingernail morphology, Hyperkeratosis, Recu... |
ORPHA:1806 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Rare Cutaneous Lupus Erythematosus |
|
Abnormality of the knee, Leukonychia, Nail bed telangiectasia, Abnormality of the plantar skin of... |
ORPHA:535 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... |
OMIM:604117 |
Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Micrognathia, Delayed puberty, Decreased serum insulin-like grow... |
OMIM:614921 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Osteomalacia, Rickets, Iron deficiency anemia, Osteoporosis |
ORPHA:309031 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Kyphosis, Cervical ribs |
ORPHA:77300 |
Rheumatoid Arthritis |
|
Weight loss, Rheumatoid arthritis, Swan neck-like deformities of the fingers, Joint stiffness, In... |
OMIM:180300 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, 3-hydroxyisovaleric aciduria, Organic aciduria, Elevated urinary 3-methylcrotonylglycin... |
OMIM:253270 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Exertional dyspnea, Weight loss, Productive cough, Hematuria, Diffuse alveola... |
ORPHA:520 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Apnea, Hypoglycemia, Dyspnea, Hyperventilation |
OMIM:229700 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Bradycardia, Abnormal cardiac septum morphology |
ORPHA:97297 |
Pyruvate Carboxylase Deficiency |
|
Tip-toe gait, Ataxia, Lacticaciduria, Failure to thrive, Hypoglycemia, Abnormal pattern of respir... |
ORPHA:3008 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Thickened skin, Ocular albinism, Albinism, Iris hypopigmentation, H... |
ORPHA:79431 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Increased level of hippuric acid in urine, Ataxia |
OMIM:248600 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Aplasia/Hypoplasia of the nails, Kyphosis, Micrognathia, Camptodactyly, Clinodactyly of... |
OMIM:619123 |
Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure, Res... |
ORPHA:555874 |
Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Hypoventilation, Biliary hyperplasia, Acute kidney injury, Enlarged kidney, Pol... |
ORPHA:731 |
Central Diabetes Insipidus |
|
Failure to thrive, Nocturia, Weight loss, Diabetes insipidus |
ORPHA:178029 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Pulmonary infiltrates, Weight loss, Nephrotic syndrome, Interstitia... |
ORPHA:139402 |
Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Renal tubular acidosis |
ORPHA:156 |
Neuroblastoma, Susceptibility To, 1 |
|
Mediastinal mass, Elevated urinary catecholamines, Anemia, Elevated urinary vanillylmandelic acid... |
OMIM:256700 |
Ramon Syndrome |
|
Decreased body weight, Kyphosis, Juvenile rheumatoid arthritis, Hypertrichosis, Scoliosis, Hyperk... |
OMIM:266270 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Rhinitis, Anemia, Insulin resistance, Nocturia, Elevated urinary dopamine, Hypo... |
ORPHA:230 |
Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Bjornstad Syndrome |
|
Alopecia, Dry hair, Pili torti, Hypogonadism, Brittle hair, Coarse hair, Hair shafts flattened at... |
OMIM:262000 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insu... |
ORPHA:99885 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Micrognathia, Hip dysplasia, Proximal placement of thumb, Scoliosis, Abnormal hair patt... |
ORPHA:261250 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Positional foot deformity, Ataxia, Neonatal hypoglycemia, Dysmetria, Difficulty walking, Thromboc... |
ORPHA:572798 |
Acrodermatitis Enteropathica |
|
Alopecia, Abnormal eyebrow morphology, Weight loss, Abnormality of the nail, Failure to thrive, P... |
ORPHA:37 |
Chédiak-Higashi Syndrome |
|
Inability to walk, Iris hypopigmentation, Large clumps of pigment irregularly distributed along h... |
ORPHA:167 |
Perry Syndrome |
|
Respiratory insufficiency, Hypoventilation, Weight loss, Akinesia, Short stepped shuffling gait, ... |
OMIM:168605 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Hyperlordosis, Multiple joint contractures, Kyphosis, Inability to walk, Scoliosis, Absent Achill... |
OMIM:128100 |
Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Splenomegaly |
OMIM:613027 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss, Asthma, Low back pain, Hydronephrosis |
ORPHA:449400 |
Yellow Fever |
|
Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Internal hemorrhage, Sho... |
ORPHA:99829 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Thoracic scoliosis, Postaxial polydactyly, Kyphosis |
OMIM:603387 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hypoplastic sweat glands, Trichorrhexis nodosa, Sparse lateral eyebrow, Orthokeratosis, Scarring ... |
OMIM:617337 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating prolactin concentration, Cafe-au-lait spot, Parathyroid adenoma, Increased ... |
OMIM:131100 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Abnormality of the nail, Abnorma... |
OMIM:607823 |
Autosomal Recessive Ataxia, Beauce Type |
|
Urinary incontinence, Ankle clonus, Kyphosis, Gait disturbance, Ataxia, Pes cavus, Dysmetria, Sco... |
ORPHA:88644 |
Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Kyphosis, Micrognathia, Thyroiditis, Palmoplantar hyperkeratosis... |
OMIM:615108 |
Pseudopelade Of Brocq |
|
Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... |
ORPHA:129 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Alopecia, Abnormal pulmonary interstitial morphology, Leukopenia,... |
ORPHA:50918 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Palmoplantar hyperkeratosis, Failure to thrive, Autoimmune hemoly... |
OMIM:617388 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia |
OMIM:618838 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... |
ORPHA:652 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Toe syndactyly, Iris hypopigmentation, Clinodactyly... |
ORPHA:999 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Kyphosis, Micrognathia, Thyroiditis, Acrokeratosis, Palmoplantar... |
OMIM:158350 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Reduced natural killer cell count, Abnormal T cell subset distribution, B lymphocytopenia, Recurr... |
ORPHA:221139 |
Isolated Anencephaly |
|
Maternal diabetes, Congenital diaphragmatic hernia, Omphalocele, Thymus hyperplasia, Intrauterine... |
ORPHA:563609 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Finger syndactyly, Coarse hair, Micrognathia, Widow's peak, Clinodactyly of the 5th fin... |
ORPHA:1974 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scarring, Urethral stricture, Alopecia universalis, Failure to thrive, Recurrent pneumonia, Folli... |
ORPHA:158668 |
Amyotrophic Lateral Sclerosis |
|
Respiratory failure, Abnormal respiratory system physiology, Dyspnea |
ORPHA:803 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, White ... |
ORPHA:2884 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Splenomegaly, Anemia, Reduced hematocrit, Wide anterior fontanel, Weight loss, Ci... |
OMIM:613673 |
Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Granulomatosis, Palmoplantar hyperkeratosis, Abnormality o... |
ORPHA:38 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... |
OMIM:612281 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Thickened skin, Ocular albinism, Albinism, Iris hypopigmentation, A... |
ORPHA:79435 |
Milroy Disease |
|
Toenail dysplasia, Pedal edema, Cellulitis, Hydrocele testis, Ankle swelling, Hyperkeratosis |
ORPHA:79452 |
Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Ataxia, Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Gait ataxia, Hyperlordosis, Sparse eyebrow, Kyphosis, Joint laxity, Large for gestational age, Lo... |
OMIM:617011 |
Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Kyphosis, Micrognathia, Thyroiditis, Palmoplantar hyperkeratosis... |
OMIM:615109 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
Autosomal Dominant Cerebellar Ataxia |
|
Akinesia, Choreoathetosis, Azoospermia, Gait disturbance, Pes cavus, Hyperkeratosis, Pigmentary r... |
ORPHA:99 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Abnormal lymph node morphology, Anemia, Primary testicular failure,... |
ORPHA:85450 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Sparse eyebrow, Kyphosis, Micrognathia, Thin eyebrow, Clinodactyly, Inguinal hernia, Hypospadias,... |
OMIM:609944 |
Biotinidase Deficiency |
|
Alopecia, Respiratory distress, Ataxia, Organic aciduria, Apnea, Myelopathy, Hyperventilation |
ORPHA:79241 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Respiratory arrest |
OMIM:600649 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Tibial torsion, Enlarged kidney,... |
ORPHA:500095 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Abnormal erythrocyte enzyme level, Failure to thrive, Delayed puberty, Po... |
ORPHA:370 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Thrombocytopenia, Increased mean platelet volume |
OMIM:617443 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Hypoglycemic seizures, Myoglob... |
OMIM:231530 |
Mend Syndrome |
|
Sacral dimple, 2-3 toe syndactyly, Ichthyosis, Wide anterior fontanel, Kyphosis, Micrognathia, Sp... |
ORPHA:401973 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Death in infancy, 4-hydroxyphenylacetic aciduria, Respiratory distress, Failure to thrive, Hypogl... |
OMIM:617156 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:173200 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Inability to walk, Kyphosis |
ORPHA:500180 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Hypoketotic hypoglycemia, Dicarboxylic aciduria, Oliguria, Fasting hyp... |
ORPHA:159 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure, Weight loss |
ORPHA:679 |
Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating prolactin concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, Snor... |
OMIM:300942 |
Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Aplasia of the ovary, Toe syndactyly, 3-4 finger cutaneous syndactyly, ... |
ORPHA:69085 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Neutrophilia, Parakeratosis, Leukocytosis, Nail dystrophy |
OMIM:614204 |
Coffin-Lowry Syndrome |
|
Decreased body weight, Tapered finger, Kyphosis, Hyperextensibility of the finger joints, Coxa va... |
OMIM:303600 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Alopecia, Multiple lipomas, Craniofacial hyperostosis, Osteolysi... |
ORPHA:2396 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Q Fever |
|
Abnormal pulmonary interstitial morphology, Anemia, Osteomyelitis, Weight loss, Hematuria, Respir... |
ORPHA:781 |
Scalp-Ear-Nipple Syndrome |
|
2-3 toe syndactyly, Multiple lipomas, Thickened skin, Finger syndactyly, Sparse axillary hair, 3-... |
OMIM:181270 |
Non-Functioning Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Paraganglioma of... |
ORPHA:94080 |
Alkaptonuria |
|
Vertebral fusion, Thickened Achilles tendon, Kyphosis, Arthritis, Low back pain, Limited hip move... |
OMIM:203500 |
Focal Myositis |
|
Limitation of joint mobility, Weight loss |
ORPHA:48918 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Hyperglycinuria, Medium chain dicarboxylic aciduria |
OMIM:201450 |
Monosomy 9Q22.3 |
|
Polydactyly, Plantar pits, Kyphosis, Large for gestational age, Short neck, Joint hyperflexibilit... |
ORPHA:77301 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Death in infancy, Neoplasm of the pa... |
ORPHA:144 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Thrombocytopenia, Dicarboxylic aciduria, Nonketotic hypoglycemia |
ORPHA:99901 |
Al Amyloidosis |
|
Abnormal pulmonary interstitial morphology, Howell-Jolly bodies, Anemia, Weight loss, Nephrotic s... |
ORPHA:85443 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Recurrent lower respiratory tract infections |
OMIM:136630 |
Hepatocellular Carcinoma |
|
Pedal edema, Anemia, Weight loss, Hepatic necrosis, Type II diabetes mellitus, Polycythemia, Hypo... |
ORPHA:88673 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hypoplastic fingernail, Alopecia, Hyperconvex fingernails, Abnormal dental enamel morphology |
ORPHA:257 |
Cockayne Syndrome Type 3 |
|
Dry hair, Enamel hypoplasia, Flexion contracture, Kyphosis, Urinary retention, Neurogenic bladder... |
ORPHA:90324 |
Vici Syndrome |
|
Leukopenia, Hypopigmentation of the skin, Penile hypospadias, T lymphocytopenia, Neutropenia, Ocu... |
OMIM:242840 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Irregular hyperpigmentation, Melanocytic nevus, Adenoma sebaceum, Vertebral segmentatio... |
ORPHA:2612 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythro... |
OMIM:606545 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Hypopigmentation of hair, Br... |
ORPHA:98795 |
Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophi... |
OMIM:608710 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Melanocytic nevus, Synophrys, Broad eyebrow, Thick eyebrow, Talipes equino... |
OMIM:619475 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Absent eyelashes, Pulmonary carcinoid tumor, Alopecia universalis, Abn... |
ORPHA:363618 |
Spinocerebellar Ataxia 34 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Epidermal hyperkeratosis, Ataxia |
OMIM:133190 |
Polycythemia Vera |
|
Respiratory insufficiency, Pulmonary embolism, Weight loss, Myelofibrosis, Epistaxis, Acute leuke... |
ORPHA:729 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Orthokeratosis, Acantholysis, Palmoplantar keratoderma, Recurrent respiratory in... |
OMIM:615508 |
Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Hematuria, Gout, Delayed puberty, Hypoglycemia, Decreased glomer... |
OMIM:232240 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Ketonuria, Elevated urinary 3-hydroxybutyric acid, Elevate... |
OMIM:615751 |
Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hemol... |
ORPHA:18 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171300 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis, Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Splenomegaly, Hypoalbuminemia |
OMIM:270400 |
Agammaglobulinemia, X-Linked |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular ... |
OMIM:300755 |
Goodpasture Syndrome |
|
Glomerulonephritis, Crackles, Macroscopic hematuria, Pulmonary hemorrhage, Exertional dyspnea, We... |
OMIM:233450 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Leukonychia, Onycholysis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Fol... |
OMIM:616295 |
Colchicine Poisoning |
|
Alopecia, Respiratory distress, Cardiorespiratory arrest, Oliguria, Leukocytosis, Renal insuffici... |
ORPHA:31824 |
Primary Biliary Cholangitis |
|
Hyperpigmentation of the skin, Osteoporosis, Abnormality of the thyroid gland |
ORPHA:186 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Recurrent strep... |
ORPHA:83471 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hyperkeratosis, Ichthyosis, Hypergranulosis, Orthokeratosis |
OMIM:613943 |
Stevens-Johnson Syndrome |
|
Abnormal pleura morphology, Anemia, Weight loss, Dysuria, Abnormality of neutrophils, Restrictive... |
ORPHA:36426 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular si... |
OMIM:241080 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Broad eyebrow, Woolly hair, Hirsutism, Cryptorchidism, Highly arched eyebrow, Low anter... |
OMIM:619244 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Choreoathetosis, Equinovarus deformity, Ataxia, Parakeratosis, Scissor ... |
OMIM:278800 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Sclerodactyly, Small nail, Decreased testicular size, Palmoplantar hyperhidrosis, Orthokeratotic ... |
OMIM:610644 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Dicarboxylic aciduria, Renal tubular acidosis |
OMIM:255120 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Pulmonary infiltrates, Aspiration pneumonia, Progressive gait ataxia, ... |
ORPHA:646 |
Dermatomyositis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph... |
ORPHA:221 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Recurrent urinary tract infections, Autoimmune hemolytic an... |
OMIM:251260 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
Nephroblastoma |
|
Lymphadenopathy, Hematuria, Weight loss, Neoplasm of the lung |
ORPHA:654 |
Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Pulmonary infiltrates, Diabetes insipidus, Weight loss, Pleuritis, Gra... |
ORPHA:900 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia |
OMIM:616483 |
Perlman Syndrome |
|
Renal hamartoma, Micrognathia, Large for gestational age, Pancreatic islet-cell hyperplasia, Cong... |
OMIM:267000 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
Orofaciodigital Syndrome Iii |
|
Short sternum, Kyphosis, Postaxial foot polydactyly, Hyperconvex nail, Postaxial hand polydactyly |
OMIM:258850 |
Alström Syndrome |
|
Chronic bronchitis, Recurrent sinusitis, Dorsocervical fat pad, Hepatosplenomegaly, Glomeruloneph... |
ORPHA:64 |
Toxic Epidermal Necrolysis |
|
Abnormal pleura morphology, Anemia, Neutropenia, Weight loss, Dysuria, Respiratory distress, Rest... |
ORPHA:537 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Weight loss, Nephrotic syndrome, Arthritis, Membranoproliferative glo... |
ORPHA:91139 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Thyroid carcinoma, Pituitary adenoma, Multiple lentigines, Pheoch... |
OMIM:160980 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Branchiooculofacial Syndrome |
|
Premature graying of hair, Micrognathia, Elbow flexion contracture, Supernumerary nipple, Hypopla... |
OMIM:113620 |
Medullary Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Lymphadenopathy, Medullary th... |
ORPHA:1332 |
Meige Disease |
|
Pedal edema, Cellulitis, Cobblestone-like hyperkeratosis, Pleural effusion, Absence of lymph node... |
ORPHA:90186 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
African Trypanosomiasis |
|
Urinary incontinence, Alopecia, Weight loss, Akinesia, Abnormality of circulating cortisol level,... |
ORPHA:3385 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hyperkeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis |
OMIM:615023 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Alopecia, Hypothyroidism, Asplenia, Hyperthyroidism, Type II diabetes mellitus, Primary ... |
OMIM:269200 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
Leprosy |
|
Sparse body hair, Alopecia, Testicular mass, Epistaxis, Abnormality of the spleen, Absent eyebrow... |
ORPHA:548 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Thickened skin, Melanocytic nevus, Albinism, Iris hypopigmentation,... |
ORPHA:79434 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
Tyrosinemia Type 2 |
|
Ataxia, Palmoplantar keratoderma, Hyperkeratosis, Abnormality of the nail |
ORPHA:28378 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
High anterior hairline, Adrenal insufficiency, Ataxia, Neonatal respiratory distress, Hyperkeratosis |
OMIM:615510 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormal testis morphology, Weight loss, Neutrophilia, Ab... |
ORPHA:54251 |
Fatal Familial Insomnia |
|
Apnea, Urinary retention, Ataxia, Weight loss |
OMIM:600072 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Palmoplantar ker... |
OMIM:604777 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin, Increased circulating ACTH level, Decreased circulating cortisol l... |
OMIM:607398 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory tract infection, Ataxia, Hypercapnia, Dyspnea, Respiratory failure, Respiratory failu... |
ORPHA:79138 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Hallux valgus, Kyphosis, Pineal cyst, Joint laxity, Ataxia, Kyphoscolio... |
OMIM:300967 |
Acute Liver Failure |
|
Hypocapnia, Acute kidney injury, Hepatocellular necrosis, Hepatic necrosis, Adrenal insufficiency... |
ORPHA:90062 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... |
ORPHA:35858 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Respiratory insufficiency, Gait ataxia, Weight loss, Progressive gait ataxia, Retinal pigment epi... |
OMIM:607459 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Pa... |
ORPHA:79501 |
Perry Syndrome |
|
Central hypoventilation, Weight loss |
ORPHA:178509 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Ridged nail |
ORPHA:83453 |
Postencephalitic Parkinsonism |
|
Akinesia, Kyphosis, Abnormal respiratory system physiology, Camptocormia, Cough |
ORPHA:97349 |
Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Allergic rhinitis, Asthma, Leukocytosis, Eosinophilia |
ORPHA:2070 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Hematuria, Glomerular s... |
ORPHA:276621 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Myelomeningocele, Premature grayin... |
ORPHA:3440 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Behçet Disease |
|
Pulmonary infiltrates, Pulmonary embolism, Weight loss, Arthritis, Pleuritis, Gait disturbance, A... |
ORPHA:117 |
Polyarteritis Nodosa |
|
Pleuritis, Weight loss, Abnormal lung morphology |
ORPHA:767 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Parakeratosis, Chronic kidney disease |
ORPHA:284426 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... |
OMIM:613239 |
Psoriasis 2 |
|
Parakeratosis, Hyperkeratosis |
OMIM:602723 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Ataxia, Glutaric aciduria, Fasting hypoglycemia, Athetosis, Chronic kidney disease |
ORPHA:25 |
Zollinger-Ellison Syndrome |
|
Multiple lipomas, Pituitary corticotropic cell adenoma, Weight loss, Increased circulating cortis... |
ORPHA:913 |
Familial Colorectal Cancer Type X |
|
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Neoplasm of the pancreas, Gait distu... |
ORPHA:440437 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Aspiration pneumonia, Tracheobronchial leiomyomatosis, Weight loss, Stage 5 chronic kidney diseas... |
ORPHA:1018 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Splenomegaly, Anemia, Hemolytic anemia, Weight loss, Nephrotic syndrome, Arthriti... |
OMIM:615846 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Alopecia, Small nail, Encephalocele, Toe syndactyly, Supernumera... |
OMIM:100300 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Abnormality of the plantar skin of foot, Increased body weight |
ORPHA:64745 |
Vascular Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Pneumothorax, Melanocytic nevus, Osteolysis, Cigarette-paper scars, Ab... |
ORPHA:286 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Decreased response to growth hormone s... |
OMIM:307200 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Gait disturbance, Hypopigmented skin patches, Hypopigmentation of hair, Fr... |
ORPHA:3214 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Decreased circulating cortisol level, Adrenocorticotropic hormone deficienc... |
OMIM:201400 |
Malignant Peritoneal Mesothelioma |
|
Pedal edema, Dyspnea, Weight loss |
ORPHA:168811 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine |
ORPHA:228305 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Sirenomelia, Pulmonary hypoplasia, Abnormal sacrum morphology |
ORPHA:1848 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss, Increased serum serotonin, Neuroendocrine neoplasm, Carcinoid tumor, Bronchospasm, D... |
ORPHA:100085 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Pleural eff... |
ORPHA:90362 |
Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Pleural empyema, Weight loss, Lung abscess, Pleural effusion, Dyspnea, Cough, Leukocytosis |
ORPHA:67 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Splenomegaly, Abnormal eyebrow morphology, Premature graying of hair, Hypogonadism, Ataxia, Hypop... |
ORPHA:163746 |
Norrie Disease |
|
Cachexia, Failure to thrive, Delayed puberty, Diabetes mellitus, Scoliosis, Cryptorchidism |
ORPHA:649 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Adrenocorticotropin deficient adrena... |
ORPHA:199296 |
Grfoma |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Weigh... |
ORPHA:97261 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, T lymphocytopenia, Weight loss, B lymphocytopenia, Hep... |
OMIM:619381 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Weight loss |
ORPHA:65682 |
Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Precocious puberty, Anemia, Weight loss, Neoplasm of the pancreas, Abnormal thoracic s... |
ORPHA:370348 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis |
OMIM:148600 |
Vipoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... |
ORPHA:97282 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Pedal edema, Eosinophilia, Sialadenitis, Lymphadenitis, Abnormal ure... |
ORPHA:449395 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Bron... |
ORPHA:100080 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Oligoarthritis, Back pain, Kyphosis, Hip osteoarthritis, Enthesitis |
OMIM:106300 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Hematuria, Glomerular s... |
ORPHA:29072 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Glucose-Galactose Malabsorption |
|
Weight loss, Hematuria, Failure to thrive, Renal insufficiency, Nephrolithiasis |
ORPHA:35710 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Hemophagocytosis, Weight loss, Hepatosplenomegaly |
ORPHA:86884 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Spondylolysis, Macroorchidism, Hernia, Recurrent respiratory infections, ... |
OMIM:208400 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Back pain, Weight loss, Hepatosplenomegaly, Diabetes mellitus, Lymphad... |
ORPHA:1333 |
Pemphigus Vulgaris |
|
Acantholysis, Atypical scarring of skin, Weight loss |
ORPHA:704 |
Rat-Bite Fever |
|
Lymphadenitis, Septic arthritis, Back pain, Oligoarthritis, Anemia, Weight loss, Arthritis, Parot... |
ORPHA:31205 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Bron... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Bron... |
ORPHA:100082 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Aspiration, Pes planus, Scoliosis, Athetosis, Talipes equinovarus |
OMIM:613454 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss, Arthritis |
ORPHA:92050 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Acute myeloid leukemia, Weight loss, Miscarriage, Thrombocytosis... |
ORPHA:71493 |
Porokeratosis |
|
Hyperkeratosis, Abnormality of skin pigmentation |
ORPHA:79358 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Splenomegaly, Weight loss |
ORPHA:33577 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Scoliosis, Kyphosis |
ORPHA:261190 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Failure to thrive, Weight loss, Primary hypothyroidism |
ORPHA:95427 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Ventricular septa... |
ORPHA:99125 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Kyphosis, Yellow nails, Cellulitis, Micrognathia, Chylothorax, Distichi... |
OMIM:153400 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Proximal renal tubu... |
OMIM:229600 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Hypoventilation, Aspiration pneumonia, Kyphosis, Apnea, Restrictive ventila... |
OMIM:619482 |
Somatostatinoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... |
ORPHA:97283 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Ankle clonus, Enuresis nocturna, Pollakisuria, Kyphosis, Dysdiadochokinesis... |
ORPHA:171629 |
Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis with toxic multi... |
ORPHA:79102 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Kyphosis |
ORPHA:261144 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, Aspiration, Reduced forced vital capacity, Respiratory distress, Ataxia, Hypercapnia... |
OMIM:164310 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Weight loss, Increased circulating ACTH level, Atypical pu... |
ORPHA:100075 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
Warburg-Cinotti Syndrome |
|
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Pneumothorax, Elbow f... |
OMIM:618175 |
Postinfectious Vasculitis |
|
Weight loss, Arthritis, Hematuria, Membranoproliferative glomerulonephritis, Recurrent streptococ... |
ORPHA:48435 |
Glucagonoma |
|
Acanthocytosis, Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, ... |
ORPHA:97280 |
Beckwith-Wiedemann Syndrome |
|
Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Adrenocortical carcinoma, En... |
OMIM:130650 |
Ppoma |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... |
ORPHA:97278 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Shuffling gait, Weight loss, Spastic/hyperactive bladder |
ORPHA:411602 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Gerstmann-Straussler Disease |
|
Truncal ataxia, Limb ataxia, Weight loss, Gait ataxia |
OMIM:137440 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Caroli Disease |
|
Weight loss, Polycystic kidney dysplasia, Leukocytosis, Cholelithiasis, Splenomegaly |
ORPHA:53035 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Orthokeratosis |
OMIM:618084 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Pollakisuria, Weight loss |
ORPHA:95626 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Small for g... |
ORPHA:424 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Onychogryposis of toenails, Palmar hyperkeratosis, Palmoplantar keratoder... |
OMIM:615726 |
Ileal Neuroendocrine Tumor |
|
Weight loss, Increased serum serotonin, Lymphadenopathy, Small intestine carcinoid, Iron deficien... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Weight loss, Increased serum serotonin, Lymphadenopathy, Small intestine carcinoid, Iron deficien... |
ORPHA:100077 |
Malt Lymphoma |
|
Pulmonary infiltrates, Anemia, Weight loss, Lymphadenopathy, Abnormality of the thyroid gland, Me... |
ORPHA:52417 |
Budd-Chiari Syndrome |
|
Splenomegaly, Weight loss |
ORPHA:131 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease |
ORPHA:469 |
Shprintzen Omphalocele Syndrome |
|
Decreased body weight, Kyphosis, Scoliosis, Neonatal respiratory distress, Omphalocele, Lumbar hy... |
OMIM:182210 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss, Hematuria, Renal artery stenosis, Proteinuria, Microscopic hematuria |
ORPHA:71273 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Weight loss, Arthritis, Lymphocytosis, Thrombocytosis, Decreas... |
OMIM:301074 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum |
ORPHA:493 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Thyrotoxico... |
ORPHA:99819 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
Klatskin Tumor |
|
Lymphadenopathy, Weight loss |
ORPHA:99978 |
Behcet Syndrome |
|
Arthritis, Patchy alopecia, Decreased level of D-mannose in urine |
OMIM:109650 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Pancreatic calcification, Weight loss, Maternal diabetes, Abnormal pan... |
ORPHA:103918 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Falls, Weight loss, Arthritis, Equinovarus deformity, Abnormal erythrocy... |
ORPHA:2388 |
Pyomyositis |
|
Leukocytosis, Renal insufficiency, Testicular teratoma, Weight loss |
ORPHA:764 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Weight loss, Nodular goiter, Thyroiditis, Abnormality of the subman... |
ORPHA:79078 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Neonatal death |
OMIM:228100 |
Kanzaki Disease |
|
Aminoaciduria, Hyperkeratosis, Increased urinary O-linked sialopeptides |
OMIM:609242 |
Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Pancreatic calcification, Weight loss |
ORPHA:677 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Holoprosencephaly 1 |
|
Diabetes insipidus, Hypoglycemia, Micropenis, Adrenal hypoplasia |
OMIM:236100 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
|
OMIM:616911 |