| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Productive... |
ORPHA:3348 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... |
ORPHA:3347 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... |
OMIM:609325 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency |
OMIM:601612 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
| Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency |
ORPHA:3346 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... |
ORPHA:60033 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... |
OMIM:256050 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnorm... |
ORPHA:1149 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Pectu... |
OMIM:609223 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
| Metaphyseal Dysplasia, Spahr Type |
|
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... |
OMIM:250400 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder |
ORPHA:2547 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, H... |
OMIM:224690 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... |
OMIM:184260 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... |
ORPHA:2614 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dis... |
ORPHA:1326 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Upper limb phocomelia, Abnormal... |
ORPHA:294975 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
| Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Ver... |
ORPHA:2631 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, Scoliosis, Camptodactyly, Joint contracture |
OMIM:617055 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Metachondromatosis |
|
Multiple enchondromatosis, Bowing of the long bones, Abnormal joint morphology |
OMIM:156250 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Joint laxity, Hand muscle atrophy, Lumbar hyperlordosis, Spondylolisthesis at L5-... |
OMIM:600561 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing... |
OMIM:151210 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
| Scholte Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia,... |
OMIM:300977 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Congenital foot contractures, Knee flexi... |
OMIM:602484 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
| Granulomatosis With Polyangiitis |
|
Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Resp... |
OMIM:608710 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Recurrent respirato... |
ORPHA:3041 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Cleidorhizomelic Syndrome |
|
Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl... |
ORPHA:1453 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin... |
ORPHA:93351 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
| Blount Disease, Adolescent |
|
Genu varum, Osteochondritis dissecans, Bowing of the legs |
OMIM:259200 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... |
ORPHA:1952 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachyp... |
ORPHA:70587 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
| Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res... |
OMIM:612387 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Jung Syndrome |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2321 |
| Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruct... |
ORPHA:141152 |
| Rigid Spine Syndrome |
|
Hip contracture, Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality on pulmonary function tes... |
ORPHA:97244 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve... |
OMIM:610910 |
| Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... |
ORPHA:70588 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-sh... |
ORPHA:166272 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Lim... |
ORPHA:96061 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... |
OMIM:602271 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Patellar aplasia, Slender long bone, Emphysema |
OMIM:613804 |
| Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Recurrent sinusitis, Calcification o... |
ORPHA:85202 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... |
OMIM:613803 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Pes planus, Hyperlordosis, Pectus excavatum, Kyphosis, Achille... |
OMIM:615290 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Short finger, Tapered finger |
OMIM:302000 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Patellar aplasia, Hip dislocation, Joint hyperflexibility, Scoliosis |
ORPHA:2058 |
| Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly,... |
OMIM:607015 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... |
OMIM:132400 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
| Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... |
ORPHA:1240 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Hyperlordosis, Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiphysis morph... |
ORPHA:2310 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Scoliosis, Patellar hypoplasia, Micrognathia |
OMIM:251240 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ... |
OMIM:187600 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi... |
ORPHA:2484 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... |
OMIM:610313 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li... |
ORPHA:156728 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
| Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... |
OMIM:156550 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
| Familial Anetoderma |
|
Generalized joint laxity, Abnormal tibia morphology, Lumbar hyperlordosis |
ORPHA:228277 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion con... |
OMIM:600175 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Pes planus, Joint hypermobility, Kyphoscoliosis, Coxa valga, ... |
OMIM:618363 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Smith-Mccort Dysplasia 2 |
|
Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho... |
OMIM:615222 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Long palm, Missing ribs, ... |
ORPHA:2759 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Respiratory insuf... |
OMIM:615633 |
| Genitopatellar Syndrome |
|
Hip contracture, Apnea, Micrognathia, Hypoplastic ilia, Patellar aplasia, Knee flexion contractur... |
ORPHA:85201 |
| Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... |
ORPHA:3035 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing... |
ORPHA:896 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... |
OMIM:612526 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
| Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Respira... |
ORPHA:436 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
| Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
| Geleophysic Dysplasia 3 |
|
Subglottic stenosis, Hepatomegaly, Pneumonia, Dyspnea, Respiratory failure, Tracheal stenosis |
OMIM:617809 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Micrognathia, Pectus excavatum, Pulmonary artery stenosis, Patellar apla... |
ORPHA:96167 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax... |
ORPHA:66637 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... |
OMIM:619611 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Abnormal lung lobation, Ureteral a... |
OMIM:617667 |
| Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Micro... |
OMIM:114290 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lu... |
ORPHA:3301 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Congenital foot contraction deformities, Hyperlordosis, Hand muscle weakness, Flexion contracture... |
ORPHA:363454 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough |
ORPHA:64741 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... |
OMIM:609324 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal thorax morphology, Abnormal l... |
ORPHA:50251 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, A... |
ORPHA:2257 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni... |
ORPHA:536516 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... |
ORPHA:1143 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena... |
OMIM:301014 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Joint stiffness, Kyphosis, Pectus carinatum, Ap... |
ORPHA:1548 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral... |
OMIM:617895 |
| Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General... |
ORPHA:85198 |
| Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Joi... |
OMIM:252605 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Multiple joint disl... |
OMIM:618395 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
| Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respirato... |
ORPHA:2771 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
| Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu... |
OMIM:616229 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Respiratory failu... |
ORPHA:79345 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Hyperlordosis, Respiratory insufficiency due to muscle weakness, Talipes equinovarus, Scoliosis, ... |
OMIM:611067 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Hypomandibular Faciocranial Dysostosis |
|
Tracheal stenosis, Recurrent respiratory infections, Abnormal tracheobronchial morphology, Death ... |
ORPHA:1790 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Ureteral agenesis, Abno... |
ORPHA:2437 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... |
ORPHA:1302 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Micrognathia, Scoliosis, Clinodactyly |
OMIM:300934 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
| Penoscrotal Transposition |
|
Micrognathia, Patellar aplasia, Pectus carinatum, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:2842 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Pes planus, Sacral dimple, Sandal gap, Long fingers, Dyspnea, Limitation of joint mobil... |
ORPHA:261279 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia |
ORPHA:1756 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
| Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ... |
OMIM:619131 |
| Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
| Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Pectus carinatum, Abnormal calcificatio... |
OMIM:271665 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... |
OMIM:277950 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr... |
OMIM:614399 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb |
OMIM:303350 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Talipes, ... |
ORPHA:1842 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Abnorm... |
ORPHA:1120 |
| Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho... |
ORPHA:582 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Hyperlordosis, Joint stiffness, Abnormal form of the vertebral bodies,... |
ORPHA:577 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Polydactyly, Respiratory distress |
OMIM:615993 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... |
ORPHA:330012 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Single transverse palmar crease, Epistaxis, Short neck, Asthma, Patellar... |
ORPHA:495818 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper airway ... |
ORPHA:142 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abn... |
ORPHA:2097 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Diverticulosis of trachea, Bronchiectasis, Death in infancy |
OMIM:275300 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Joint... |
OMIM:618870 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... |
ORPHA:1303 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distr... |
ORPHA:95430 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib morphol... |
ORPHA:1486 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narr... |
ORPHA:1423 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Achondrogenesis Type 1B |
|
Micromelia, Short neck, Abnormal enchondral ossification, Micrognathia, Short thorax, Abnormal ri... |
ORPHA:93298 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Respiratory insufficiency, Scoliosis |
OMIM:619042 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut... |
OMIM:178500 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel... |
ORPHA:94068 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Bilateral single transverse palmar creases, Hyperlordosis, Pectus excavatum, Abnor... |
ORPHA:2511 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula, Respiratory insufficiency |
ORPHA:93941 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Joint dislocation, Plantar hyp... |
ORPHA:221016 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Flexion contracture,... |
ORPHA:267 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Micrognathia, Re... |
OMIM:215150 |
| Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Thin ribs, Neonatal death |
OMIM:300219 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... |
OMIM:183900 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Single transverse palmar crease, Short neck, Micrognathia, Femoral bowing... |
OMIM:601559 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... |
ORPHA:199241 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... |
OMIM:615777 |
| Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... |
OMIM:255800 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
| Rapadilino Syndrome |
|
Joint dislocation, Aplasia/Hypoplasia of the patella, Absent thumb, Aplasia/Hypoplasia of the rad... |
OMIM:266280 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Pyle Disease |
|
Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Hypoplastic frontal sinu... |
OMIM:265900 |
| Pendred Syndrome |
|
Tracheal stenosis, Nephropathy, Respiratory insufficiency |
ORPHA:705 |
| Three M Syndrome 1 |
|
Joint dislocation, Pes planus, Scapular winging, Neonatal respiratory distress, Short neck, Pectu... |
OMIM:273750 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... |
OMIM:215140 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Recurrent respiratory infections, Sandal gap, Tracheobronchomalacia, Patellar ... |
OMIM:616835 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Micrognathia,... |
ORPHA:2554 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Prenatal death, Camptod... |
OMIM:618393 |
| Alpha-Mannosidosis |
|
Recurrent respiratory infections, Bowing of the long bones, Craniofacial hyperostosis, Short neck... |
ORPHA:61 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat... |
ORPHA:747 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Ate... |
OMIM:269860 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi... |
OMIM:114300 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Metaph... |
ORPHA:221008 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosi... |
ORPHA:1145 |
| Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis, Respiratory insufficiency, Sprengel anomaly |
ORPHA:2901 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis, Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Os... |
OMIM:165800 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
| Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Irregular femoral epiphysis, Patellar a... |
OMIM:613805 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Ck Syndrome |
|
Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig... |
OMIM:300831 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morpho... |
ORPHA:1797 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Anisospondyly, Micrognathia, Respiratory insufficiency, Sho... |
OMIM:224410 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Micromelia, Short neck, Abnormal enchondral ossifica... |
ORPHA:93299 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Micrognathia, Pectus carinatum, Knee flexion contracture, Wrist flexion c... |
OMIM:121050 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
| Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Death in infancy, Apnea, Micromelia, Bowing of the legs, Cranio... |
OMIM:241500 |
| Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossification of carpal bones, S... |
OMIM:618392 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... |
OMIM:617102 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ... |
ORPHA:137914 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... |
OMIM:166210 |
| Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Short neck, Micrognathia, Dyspnea, Hypoplasia of the radius, Ab... |
ORPHA:3015 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal wide... |
OMIM:612813 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation, Pe... |
ORPHA:958 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnor... |
OMIM:620233 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle weakness, Hyperlordosis, Metatarsus adductus, Kyphosis, Peronea... |
OMIM:181405 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... |
OMIM:173800 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Reduced forced vital capacity, Ne... |
OMIM:255600 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa ... |
ORPHA:1988 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Meier-Gorlin Syndrome 2 |
|
Micrognathia, Patellar aplasia, Slender long bone, Camptodactyly, Tracheomalacia, Joint hypermobi... |
OMIM:613800 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
| Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxity, Lumbar hyperlordosi... |
OMIM:607095 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... |
ORPHA:56304 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, B... |
OMIM:244400 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... |
ORPHA:73230 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
| Aspergillosis |
|
Sinusitis, Abnormal long bone morphology, Diffuse reticular or finely nodular infiltrations, Coug... |
ORPHA:1163 |
| Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os... |
ORPHA:2848 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Respira... |
OMIM:245650 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... |
ORPHA:435387 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Hypoplastic... |
ORPHA:93315 |
| Steel Syndrome |
|
Carpal synostosis, Pes planus, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clino... |
OMIM:615155 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Neonatal respiratory distress, Increased intervertebral spa... |
OMIM:618961 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Pes planus, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carinatum, Thoracic kyphosis, Short ... |
OMIM:619467 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
| Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
| Chitayat Syndrome |
|
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Pectus excavatum, Abnormal... |
OMIM:617180 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Recurrent respiratory infections, Death in infancy, Block vertebrae,... |
OMIM:277300 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis |
OMIM:616756 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... |
ORPHA:2050 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Rest... |
OMIM:608681 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyporeflexia of lower limbs, Hyperlordosis, Calcaneovalgus deformity, Areflexia of lower limbs, A... |
OMIM:162370 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Micrognathia... |
ORPHA:2522 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... |
ORPHA:3082 |
| Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Pes planus, Short neck, Micrognathia, Split hand... |
OMIM:157900 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis, Hypoplasia of penis |
OMIM:601427 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Micrognathia, Hypoplasia of... |
OMIM:264180 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Typical Nemaline Myopathy |
|
Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Spinal rigidity, Hip dislocation, Flexion ... |
ORPHA:171436 |
| Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
| Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Prematurely aged appea... |
ORPHA:1318 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Pectus ... |
OMIM:615349 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Narrow chest, Pter... |
ORPHA:1865 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Scapular winging, Hyperlordosis, Achilles tendon contracture, Respiratory insufficiency, Pectus c... |
OMIM:620389 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Talipes, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joi... |
ORPHA:157973 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal bronchus morphology, Abnormality of the kidney, Neonatal... |
ORPHA:141127 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... |
OMIM:617821 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Micrognathia, Flexion contracture, Scoli... |
OMIM:618524 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kyphosis, Lower li... |
OMIM:615761 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Recurrent respiratory infections, Short metacarpal, Scapular winging, Ivory epiphyses... |
OMIM:190350 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia, Steatorrhea |
OMIM:618752 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Cough,... |
ORPHA:2414 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Nemaline Myopathy 7 |
|
Pes planus, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Respiratory insufficiency due ... |
OMIM:610687 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Decreased fibul... |
OMIM:616897 |
| Hyperostosis Corticalis Generalisata |
|
Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical... |
ORPHA:3416 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2637 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
| Farber Disease |
|
Respiratory distress, Abnormality of the knee, Nodular pattern on pulmonary HRCT, Abnormality of ... |
ORPHA:333 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Patellar hypoplasia, Brachydactyly |
ORPHA:464288 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Single transverse palmar crease, Short neck, Kyphosis, Flexion contractur... |
ORPHA:178148 |
| Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
| Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta... |
OMIM:614815 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Prominent superficial veins, Pes planus, Camptodactyl... |
OMIM:612350 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Tracheomalacia, Tracheal stenosis |
OMIM:217980 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
| Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, R... |
ORPHA:583 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies... |
OMIM:260400 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... |
ORPHA:2021 |
| Cleidocranial Dysplasia |
|
Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the ... |
ORPHA:1452 |
| Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... |
OMIM:610915 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
| Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Micrognathia, O... |
OMIM:613849 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Hip dislocati... |
ORPHA:75840 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
| Ck Syndrome |
|
Long toe, Microretrognathia, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Joint hypermobility |
ORPHA:251383 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Overlapping toe, Short hallux, ... |
ORPHA:3309 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis,... |
ORPHA:3409 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Equinovarus def... |
OMIM:224400 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Nemaline Myopathy 2 |
|
Calf muscle pseudohypertrophy, Apnea, Talipes, Spinal rigidity, Hyperlordosis, Thenar muscle atro... |
OMIM:256030 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... |
OMIM:119600 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Triceps weakness, Weakness ... |
ORPHA:98913 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... |
OMIM:300718 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Proximal placement of thumb, Short neck, Hyperlordosis, Kyp... |
OMIM:314580 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormality o... |
ORPHA:3130 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
| Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... |
OMIM:619698 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
| Three M Syndrome 3 |
|
Short neck, Hyperlordosis, Increased vertebral height, Short thorax, Slender long bone, Hip dyspl... |
OMIM:614205 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... |
ORPHA:62 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Joint laxity, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypop... |
OMIM:617063 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Absent Achilles refle... |
OMIM:620011 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Recurrent respiratory infections, Joint laxity, Congenital hip di... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Recurrent respiratory infections, Joint laxity, Congenital hip di... |
ORPHA:590 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Prominent sternum, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Multicystic kidney dysplasia, Hypos... |
ORPHA:2052 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance, Abnormal distal phalanx morphology of finger, Abnormality of the han... |
ORPHA:1387 |
| Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Restrictive ventilatory defect, Pleural effusion, Cough, Emphysema, Airway obstruction |
ORPHA:36412 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Abnormal respira... |
ORPHA:171866 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Recurrent respiratory infections, Short metacarpal, Thoracolumbar ky... |
OMIM:618853 |
| Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Talipes, Postaxial polydactyly... |
OMIM:619879 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... |
OMIM:619632 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preax... |
ORPHA:3098 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp... |
ORPHA:1488 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol in plasma, Hype... |
ORPHA:79237 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Brachyd... |
ORPHA:2643 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... |
ORPHA:36238 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Ne... |
OMIM:602471 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Increased bone minera... |
ORPHA:166119 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Ankle flexion contr... |
ORPHA:280333 |
| White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... |
ORPHA:2475 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, F... |
OMIM:616482 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Clinodactyly, 2-3 toe syndactyly, Scoliosis, Hyperlordosis |
OMIM:617352 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... |
OMIM:171480 |
| Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Inferior pubic ramus... |
OMIM:606170 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Wo... |
ORPHA:1798 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micr... |
ORPHA:536471 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
| Li-Campeau Syndrome |
|
Single transverse palmar crease, Patellar hypoplasia |
OMIM:619189 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, Scapular... |
OMIM:620369 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Flex... |
OMIM:255200 |
| Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Laryngeal stenosis, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of t... |
ORPHA:79404 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru... |
ORPHA:2958 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ... |
ORPHA:3068 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... |
OMIM:208500 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, A... |
OMIM:616414 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, Finger joint hypermobili... |
OMIM:212720 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... |
OMIM:234810 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Reduced vital capacity, Distal lower limb muscle weakness, Hyperlordosis |
OMIM:607088 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... |
ORPHA:2314 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ... |
ORPHA:3144 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis |
OMIM:201000 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ... |
OMIM:271510 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... |
ORPHA:1225 |
| Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Respir... |
ORPHA:2655 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Short neck, Dyspnea, Respiratory failure, Mandibular aplasia,... |
ORPHA:1832 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cutis marmorata, Renal hypoplasia... |
ORPHA:818 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Micrognathia, Vertebr... |
ORPHA:1323 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:241530 |
| Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contr... |
ORPHA:263463 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Pectus excavatum, Osteoporosis, J... |
ORPHA:1515 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... |
OMIM:250250 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Abnormal femoral ... |
ORPHA:3218 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
| Pycnodysostosis |
|
Abnormal clavicle morphology, Persistent open anterior fontanelle, Micrognathia, Generalized oste... |
ORPHA:763 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
| Juvenile Paget Disease |
|
Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Cranial hyperostosis... |
ORPHA:2801 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoliosis |
OMIM:617404 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Short neck, Lower limb asymmetry, Abnormal rib morphology,... |
ORPHA:1703 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
| Hypophosphatasia, Childhood |
|
Craniosynostosis, Rachitic rosary, Bowing of the legs |
OMIM:241510 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Netherton Syndrome |
|
Asthma, Emphysema, Recurrent respiratory infections |
ORPHA:634 |
| Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pect... |
ORPHA:2886 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, Juvenile rhe... |
OMIM:607944 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radiu... |
OMIM:607143 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the ... |
OMIM:618291 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Abnormal pelvic girdle bone morphology, Paget ... |
OMIM:167320 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of fing... |
OMIM:166250 |
| Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Short toe, Broad foot, Brachydactyly |
ORPHA:3085 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis |
OMIM:620183 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Renal angi... |
ORPHA:538 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Short thorax, Limitation of joint mobility, Respiratory insufficiency, Apla... |
ORPHA:93274 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal lung lobation, Anencephaly, Stillbirth, Severe hydrocephalus, Tracheal sten... |
OMIM:236680 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
| Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Short neck, Hyperlordosis, Limited knee flexi... |
OMIM:615065 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... |
OMIM:613159 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormal foot morphology, O... |
ORPHA:1657 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Congenital hip dislocation, Limb joint contracture, Reduced forced vital ca... |
OMIM:255310 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Hypospadias |
OMIM:617516 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
| Hydrolethalus |
|
Hydrocephalus, Anencephaly, Tracheal atresia |
ORPHA:2189 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Abnormal pleura m... |
ORPHA:584 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperexte... |
ORPHA:544503 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Progeroid facial appearance, Genu valgum, Slender long bones with narrow diaphyses, A... |
OMIM:608154 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... |
ORPHA:710 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-shaped thorax, ... |
OMIM:255710 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Restrictive Dermopathy 2 |
|
Overtubulated long bones, Cyanosis, Short clavicles, Respiratory distress |
OMIM:619793 |
| Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m... |
OMIM:301078 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
| Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Reduced forced expiratory volu... |
OMIM:108145 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal calcification, Hydronephrosis, Tracheal stenosis |
OMIM:302960 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Peroneal muscle weakness, Hyperlordosis, Pectus excavatum, Flexion contracture, Calf muscle hyper... |
OMIM:611588 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, T... |
OMIM:251000 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Bronchomalacia, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, ... |
OMIM:613177 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Short neck, Craniosynostosis, Micrognathia, Kn... |
ORPHA:284417 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... |
ORPHA:249 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi... |
OMIM:609128 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:264700 |
| Isolated Glycerol Kinase Deficiency |
|
Osteoporosis, Scoliosis, Hyperlordosis |
ORPHA:408 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... |
ORPHA:2462 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Lateral humeral condyle... |
OMIM:164900 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... |
OMIM:269300 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... |
OMIM:307800 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl... |
OMIM:130070 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Esophageal Atresia |
|
Subglottic stenosis, Recurrent respiratory infections, Respiratory distress, Cyanosis, Renal agen... |
ORPHA:1199 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Exertional dyspnea, Multiple joint contractures, Hyperlordosis |
ORPHA:352470 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar... |
OMIM:618150 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lymphocytosis |
ORPHA:79087 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Hydroureter, Hypospadias, Pulmonary artery stenosis, Partial anoma... |
OMIM:265380 |
| Juvenile Hyaline Fibromatosis |
|
Death in infancy, Progressive flexion contractures, Joint stiffness, Osteolysis, Abnormal diaphys... |
ORPHA:2028 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Flexion contracture, Pec... |
OMIM:619383 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Nar... |
ORPHA:508533 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... |
ORPHA:3206 |
| Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contractu... |
ORPHA:800 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
| Bethlem Myopathy |
|
Hypoventilation, Scapular winging, Lumbar hyperlordosis, Multiple joint contractures, Camptodacty... |
ORPHA:610 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Respiratory insufficiency, Talipe... |
ORPHA:169186 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p... |
ORPHA:65759 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hyperlordosis, Short 5th finger, Thoracic kyphosis, Scoliosis, Hypoplasia ... |
ORPHA:557003 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Pe... |
OMIM:612940 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Elbow flexion contracture, Calf muscle hypertrophy, Tho... |
ORPHA:206546 |
| White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes |
ORPHA:464370 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
| Chand Syndrome |
|
Hydroureter |
ORPHA:1401 |
| Myasthenic Syndrome, Congenital, 14 |
|
Pes planus, Scapular winging, Hyperlordosis, Distal joint laxity, Knee flexion contracture, Scoli... |
OMIM:616228 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication |
ORPHA:457212 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... |
ORPHA:454836 |
| Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
| Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy... |
OMIM:200980 |
| Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Recurrent fract... |
OMIM:231070 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Clubbing of fingers, Pu... |
OMIM:614742 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Hyperlordosis, Micrognathia, Facial hyperostosis, High iliac wing... |
ORPHA:2780 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Calf muscle hypertrophy, Th... |
ORPHA:86812 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Micrognathia, Femoral bowing, Sh... |
OMIM:617022 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Pectus carinatum, Radio... |
ORPHA:171839 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Slender long bones with narrow diaphyses, Progeroid facial a... |
ORPHA:50811 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
| Striatonigral Degeneration, Childhood-Onset |
|
Ankle clonus, Lumbar hyperlordosis |
OMIM:617054 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:277440 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Congenital c... |
OMIM:615042 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Recurrent respiratory infections, Respiratory distress, Respiratory failure ... |
OMIM:211530 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Reduced bone mineral density, Increased susceptibilit... |
ORPHA:561 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum |
OMIM:619073 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... |
ORPHA:1572 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Hyperlordosis, Flexion contracture, Hip dislocation, Respiratory insufficiency, Scoliosis |
OMIM:613156 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excava... |
OMIM:616817 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Flexion contracture, Thin... |
OMIM:608149 |
| Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Congenital hip dislocation, Cutis marmorata, Achilles tendon contracture, S... |
OMIM:619719 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia |
ORPHA:77296 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis, Hand clenching |
ORPHA:37612 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent... |
OMIM:618188 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... |
OMIM:606612 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Distal... |
OMIM:254090 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Short ... |
ORPHA:3404 |
| Cohen Syndrome |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ... |
OMIM:216550 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Adducted thumb, Bilateral single ... |
ORPHA:50810 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia |
ORPHA:289916 |
| Raine Syndrome |
|
Hydroureter, Hydronephrosis |
OMIM:259775 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Respiratory distress, Ankle flexion contracture, Micrognathia, Small hand, Upper limb... |
OMIM:608799 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, C... |
ORPHA:2038 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Respiratory ins... |
OMIM:161800 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Recurrent respiratory infections, Lumbar hyperlordosis, S... |
OMIM:613385 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormality of the knee, Scapular winging, Hypoventilation, Neonatal respir... |
ORPHA:98915 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Osteoporosis... |
OMIM:612199 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
| Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Hydrocephalus, Respiratory insufficiency, Tracheal stenosis, Micropenis, Hydronephrosis |
ORPHA:163979 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, ... |
ORPHA:52430 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
| Propionic Acidemia |
|
Pancytopenia, Hypoglycemia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Anemia |
OMIM:606054 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... |
OMIM:605274 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
| Vici Syndrome |
|
Renal tubular acidosis, Ureteral atresia |
ORPHA:1493 |
| Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Jansen-De Vries Syndrome |
|
Short foot, Hyperlordosis, Small hand, Brachydactyly |
OMIM:617450 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
| Goodpasture Syndrome |
|
Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Pulmonary infiltrates, Restrictive... |
OMIM:233450 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o... |
ORPHA:3121 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Micrognathia, Flexion contracture, Knee flexion contracture, Aspirati... |
ORPHA:2020 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Anemia |
ORPHA:79312 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Pulmonary ... |
OMIM:619003 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Short neck, Pectus excavatum, Recurrent b... |
OMIM:617303 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto... |
ORPHA:391673 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... |
ORPHA:280633 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
| Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory insufficiency ... |
ORPHA:2905 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
| Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young |
OMIM:616222 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Reduced vital capacity, Ankle flexion contracture, Hyperlordosis, Calf muscle hyper... |
OMIM:617760 |
| Aniridia And Absent Patella |
|
Aplasia/Hypoplasia of the patella |
OMIM:106220 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... |
OMIM:227270 |
| Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg... |
ORPHA:2756 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Coug... |
ORPHA:79128 |
| Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
| Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... |
OMIM:144650 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter |
OMIM:610759 |
| Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Chondritis of pinna, Atelectasis, Dyspnea, Eryt... |
ORPHA:728 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Recurrent respiratory infections, Death in infancy, Camptodactyly o... |
ORPHA:93473 |
| Fucosidosis |
|
Barrel-shaped chest, Cervical platyspondyly, Recurrent respiratory infections, Lumbar hyperlordos... |
OMIM:230000 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusio... |
OMIM:206920 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
| Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... |
ORPHA:99646 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Nasal polyposis, Recurrent intrapulmonary hemorrhage, Protei... |
ORPHA:183 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs |
OMIM:122600 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
| Frontometaphyseal Dysplasia 2 |
|
Tracheal stenosis, Neurogenic bladder, Stridor, Subglottic stenosis |
OMIM:617137 |
| Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Craniosynostosis, Micrognathia, Talipes equinovalgus, Hip dislocation, E... |
ORPHA:3132 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac... |
OMIM:607155 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
| Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ... |
ORPHA:2909 |
| Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Scoliosis, Hyperlord... |
OMIM:603034 |
| Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Long palm, T... |
ORPHA:2215 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Hyperammonemia, Neutropenia |
OMIM:618253 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ... |
OMIM:249420 |
| Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Multiple joint contractures, Shoulder flexion contracture, Limited hip exte... |
OMIM:617114 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Weakness of long finger extensor muscles, Scoliosi... |
OMIM:160500 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
| Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
| Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax |
OMIM:614816 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa... |
ORPHA:794 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Renal insufficiency, Crackles, Atelectasis, Nonproductive cough, Oliguria, ... |
ORPHA:319213 |
| Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
| Atelosteogenesis Type I |
|
Laryngeal stenosis, Laryngotracheal stenosis, Multiple renal cysts, Pulmonary hypoplasia |
ORPHA:1190 |
| Larsen Syndrome |
|
Tracheal stenosis, Spina bifida occulta, Bronchomalacia, Tracheomalacia |
OMIM:150250 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... |
ORPHA:528 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Recurrent respiratory infections, Sacral dimple, Respiratory distress, Postaxial po... |
OMIM:300968 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphos... |
ORPHA:354 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis |
OMIM:615926 |
| Acromelic Frontonasal Dysplasia |
|
Upper airway obstruction, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Ap... |
ORPHA:1827 |
| Aniridia-Absent Patella Syndrome |
|
Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... |
ORPHA:2519 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Short neck, Pectus excavatu... |
ORPHA:98863 |
| Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Small hand, Genu valgum, Short fo... |
OMIM:618443 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Short finger, Tapered finger |
ORPHA:1867 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
| Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Small hand, Talipes equinovarus, Camptodactyly, Clinodactyly |
OMIM:619980 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Hyperlordosis |
OMIM:614198 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Talipes equinovarus |
OMIM:150260 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Arachnodactyly, Rocker bottom foot, Prematurely aged appearance, Coxa valga... |
ORPHA:3342 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Telangiectasia of the skin, Microgn... |
ORPHA:52 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Short neck, Mi... |
ORPHA:2879 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hepatomegaly, Cardiomegaly, Atelectasis, Tachypnea, Respiratory... |
OMIM:618278 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... |
ORPHA:1667 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter |
OMIM:619194 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m... |
ORPHA:95699 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
| Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Pectus excav... |
ORPHA:98855 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Upper airway ob... |
OMIM:603671 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... |
OMIM:164745 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Hyperlordosis, Atelectasis, Flexion contracture, Respiratory insufficiency, Pulm... |
ORPHA:258 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
| Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat... |
ORPHA:171430 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs |
OMIM:604919 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Verteb... |
OMIM:611209 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of the 5th finger... |
OMIM:614407 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication |
ORPHA:96169 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Pectus excav... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Pectus excav... |
ORPHA:98853 |
| 22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Leukocytosis, Hyperglycemia |
ORPHA:90065 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Knee contracture, Respiratory failure... |
OMIM:620278 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Dyspnea, Exertional dyspnea, Shoulder girdle muscle weakness, Hyperlordosis |
OMIM:615156 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... |
OMIM:616294 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... |
OMIM:614080 |
| Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Hypospadias, Hydronephrosis |
OMIM:300712 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Achilles tendon contracture, Rec... |
OMIM:620249 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,... |
OMIM:616300 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... |
OMIM:244460 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondy... |
OMIM:601356 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Prominent superficial veins, Respiratory distress, Dyspnea, Osteoporosi... |
ORPHA:363705 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific... |
OMIM:210710 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Pes planus, Arachnodactyly, Hyperlordosis, Micrognathia, Pectus carinatum, Scoliosi... |
OMIM:300986 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... |
OMIM:182212 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... |
OMIM:212780 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Scapular winging, Hyperlordosis, Achilles tendon contracture, Scoliosis |
OMIM:616852 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Apnea, Recurrent fractures, Craniosyn... |
ORPHA:667 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, Respiratory distress, Adducted thumb |
ORPHA:89844 |
| Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Wormian bones, Abnormality of the hand, Hyperlordosis, Pectus e... |
OMIM:234100 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... |
ORPHA:412 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy... |
ORPHA:2463 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Osteomalacia, Recurrent fractures, Joint stif... |
ORPHA:534 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Joint stiffness, Spinal rigidity, Flexion contracture, Calf muscle hypertrophy |
OMIM:609308 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Micrognathia, Recurrent pn... |
ORPHA:314655 |
| Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restrictive venti... |
OMIM:181000 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Intrinsic hand muscle atrophy, Respir... |
OMIM:620285 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n... |
ORPHA:226313 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Coffin-Siris Syndrome 1 |
|
Joint laxity, Recurrent respiratory infections, Sacral dimple, Sandal gap, Cutis marmorata, Singl... |
OMIM:135900 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... |
ORPHA:79240 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ... |
OMIM:616507 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Hyperlordosis |
OMIM:618129 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Pectus carinatum, Decreased skull o... |
ORPHA:955 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Pes planus, Sandal gap, Abnormal finger flexion crease, Talipe... |
OMIM:210600 |
| Rhyns Syndrome |
|
Renal insufficiency, Chronic kidney disease, Nephronophthisis |
OMIM:602152 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachi... |
ORPHA:289157 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Hyperlordosis, Micrognathia,... |
ORPHA:3253 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Short p... |
OMIM:601812 |
| Chromosome 10Q26 Deletion Syndrome |
|
Scapular winging, Congenital hip dislocation, Toe syndactyly, Sandal gap, Lumbar hyperlordosis, S... |
OMIM:609625 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Multiple pterygia, Mic... |
ORPHA:2990 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
| Renpenning Syndrome |
|
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... |
ORPHA:3242 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contracture, Restrictive ventila... |
OMIM:253700 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Broad palm, Scoli... |
OMIM:277600 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
| Gaucher Disease, Type I |
|
Epistaxis, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary infiltrates, Pulmonary ... |
OMIM:230800 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... |
OMIM:608836 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Cyanosis, Maternal diabetes, Cardiomegaly, Tachypnea, Anomalous pulmonary venous re... |
ORPHA:860 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr... |
OMIM:600092 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Hyp... |
OMIM:617925 |
| Dextrocardia |
|
Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
| Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sanda... |
ORPHA:261330 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Palm... |
OMIM:109400 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Restrictive ventilatory defect, ... |
OMIM:614376 |
| Larsen Syndrome |
|
Finger syndactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bones, Respirator... |
ORPHA:503 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Ti... |
ORPHA:96334 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
| Xylt1-Cdg |
|
Joint laxity, Joint dislocation, Pes planus, Coxa valga, Flared metaphysis, Short long bone, Shor... |
ORPHA:370930 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... |
ORPHA:3392 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Joint dislocation, Pes planus, Sandal gap, Recurrent shoulder dislocation, Thoraco... |
ORPHA:230851 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Pulmonary hypoplasia, Talipes equinovarus, Short... |
OMIM:620306 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Joint laxity, Pes planus, Scapular winging, Lumbar hyperlordosis, Flexion contracture, Knee flexi... |
ORPHA:353327 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, P... |
ORPHA:192 |
| Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Atelect... |
ORPHA:365 |
| Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Dyspnea, Platyspondyly, Tho... |
OMIM:242900 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... |
OMIM:225500 |
| Igg4-Related Thyroid Disease |
|
Tracheal stenosis |
ORPHA:64744 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Pes planus, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatars... |
ORPHA:439822 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul... |
OMIM:610442 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Single transverse palmar crease, Micrognathia, 2-3 toe syndactyly, Clubbing of toes, Cl... |
ORPHA:3304 |
| Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Pectus excavatum, Kyphosis, Irregular femoral epiph... |
OMIM:108300 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
OMIM:613818 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Hyperlordosis, Flexion contracture, Proximal upper limb ... |
OMIM:160150 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis... |
ORPHA:1883 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insufficiency due to m... |
OMIM:310200 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis |
OMIM:615630 |
| Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Micrognathia, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
| Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped ... |
OMIM:309350 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... |
ORPHA:292 |
| Igg4-Related Aortitis |
|
Hydronephrosis |
ORPHA:449400 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress |
ORPHA:240103 |
| Dravet Syndrome |
|
Pes planus, Pes valgus, Limited knee extension, Cyanotic episode, Tibial torsion |
ORPHA:33069 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Microgna... |
OMIM:258315 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
| Geleophysic Dysplasia 1 |
|
Tracheal stenosis, Hepatomegaly |
OMIM:231050 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pes planus, Pelvic bone exostos... |
OMIM:304150 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac wing, Short long bon... |
ORPHA:79255 |
| Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus, Liver abscess |
ORPHA:69663 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Emphysema |
ORPHA:357074 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... |
OMIM:269500 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Uric acid nephrolithiasis |
OMIM:300661 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,... |
OMIM:614613 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Short neck, Micrognathia... |
ORPHA:251028 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Pectus excavatum, Kyphosis, Scoliosis, Recurrent upper and lowe... |
ORPHA:79329 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Apnea, Cyanosis, Hypoglycemia, Renal steatosis, Fasting hypoglycemia, Im... |
OMIM:261680 |
| Distal Deletion 10Q |
|
Pes planus, Scapular winging, Lumbar hyperlordosis, Sandal gap, Prominent metopic ridge, Craniosy... |
ORPHA:96148 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Prominent superficial veins, Wide cranial sutures, Progeroid facial appearance... |
OMIM:614008 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoli... |
ORPHA:79107 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... |
OMIM:208540 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir... |
ORPHA:2596 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Joint laxity, Toe syndactyly, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar ky... |
OMIM:619234 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
| Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Atelectasis, Splenomegaly, Recurrent pneumonia, Air bronchogram, Cough, Pleural eff... |
OMIM:306400 |
| De Barsy Syndrome |
|
Patent ductus arteriosus, Recurrent sinopulmonary infections, Emphysema |
ORPHA:2962 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Pectus excavatum, Reduced bone mineral density, Long fibula, Ab... |
ORPHA:935 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Dyspnea, Clubbing, Pedal edema, Hypoxemia |
ORPHA:439 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
| Zygomycosis |
|
Renal insufficiency, Sinusitis, Diabetes mellitus, Epistaxis, Atelectasis, Pneumothorax, Pulmonar... |
ORPHA:73263 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... |
OMIM:112250 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Abnormality of cartilage of external ear, Tachypnea, Cyanosis |
ORPHA:3426 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Talipes, Kyphoscoliosis, Severe generalized osteoporosis, Micrognathia, Delayed ... |
OMIM:210730 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Talipes equinovarus, Sprengel ... |
OMIM:601389 |
| Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor, Abnormal tracheal morphology |
OMIM:150280 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Overlapping fingers, Pulmonary ... |
ORPHA:79330 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Recurrent respiratory infections, Respiratory distress, Micrognathia, Contractures of... |
ORPHA:329178 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... |
ORPHA:980 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Pectus carinatu... |
ORPHA:1855 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
| Smith-Magenis Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:819 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar cr... |
ORPHA:508488 |
| Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
| Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... |
ORPHA:1507 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Neonatal respiratory distress, Hyperlordosis, Clinodactyly of the 2nd finger, Cone-sh... |
ORPHA:221139 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Short metatarsal, Spin... |
OMIM:608328 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
| Hurler Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the femoral head, Coxa valga, Short neck, Hypopla... |
OMIM:607014 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
| Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Achilles tendon contractur... |
ORPHA:353 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, ... |
ORPHA:313855 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis |
OMIM:301056 |
| Otoonychoperoneal Syndrome |
|
Popliteal pterygium, Abnormal diaphysis morphology, Flexion contracture, Knee flexion contracture |
ORPHA:2793 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Abnormal 5th finger morphology, Symphalangism... |
ORPHA:1439 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
| Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba... |
OMIM:252900 |
| Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Pulmonary infiltrates, Abnorma... |
ORPHA:228123 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
| Keutel Syndrome |
|
Calcification of the auricular cartilage, Sinusitis, Recurrent bronchitis, Short hallux, Miscarri... |
OMIM:245150 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Syndactyly, Hyperextensibility of the finger joints, Prominent scalp veins, Cutis m... |
OMIM:151050 |
| Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th fi... |
OMIM:300373 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cyanosis, Cardiomegaly, Tachypn... |
ORPHA:555874 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Neonatal hypoglycemia, Cardiomegaly, Hydrocephalus, Pleura... |
OMIM:261740 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Talipes e... |
OMIM:301066 |
| Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Pectus carina... |
OMIM:609008 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... |
OMIM:617088 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Broa... |
ORPHA:798 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
| Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art... |
ORPHA:90349 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory d... |
ORPHA:31826 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Hyperlordosis, Pectus excavatum, Kyphosis, Flushing, Scoliosis, Pes cavus, Proximal... |
OMIM:162300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Flexion contracture |
OMIM:613723 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Th... |
ORPHA:488434 |
| Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Rib fusion, Vertebral ... |
OMIM:148050 |
| Kid Syndrome |
|
Progeroid facial appearance, Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion con... |
ORPHA:477 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology |
ORPHA:79243 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Recurrent pneu... |
ORPHA:1329 |
| 3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Hip dislocation, Limited pronation/supination of forearm, Radiou... |
ORPHA:293843 |
| Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Sacral dimple, Death in infancy, Single transverse palmar crease, Coxa va... |
OMIM:619297 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract infections, Ov... |
OMIM:252930 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis |
OMIM:619179 |
| Glycogen Storage Disease Ib |
|
Hypoglycemia, Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia |
OMIM:232220 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
| 22Q11.2 Deletion Syndrome |
|
Arachnodactyly, Short neck, Micrognathia, Atelectasis, Abnormal thorax morphology, Asthma, Abnorm... |
ORPHA:567 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Micrognathia, Mandibular condyle hypoplasia, Short mandibular rami, ... |
OMIM:614669 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoa... |
OMIM:231680 |
| Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
| Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
| Myotonia Permanens |
|
Dyspnea, Asthma, Limitation of joint mobility, Hyperlordosis |
ORPHA:99735 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation |
OMIM:618541 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyperhomocystinemia... |
OMIM:277380 |
| Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Emphysema, Hypoxemia |
ORPHA:284979 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, Episodic tachypnea, Abnormal tracheal morphology, Umbilical hernia, Micropenis |
ORPHA:2872 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
| Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Pes planus, Cutis marmorata, Single tr... |
OMIM:303600 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:2315 |
| Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Pitt-Hopkins Syndrome |
|
Pes planus, Single transverse palmar crease, Tapered finger, Short neck, Broad fingertip, Small h... |
ORPHA:2896 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,... |
ORPHA:263508 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Limitation of joint mobility, Hyperlordosis |
ORPHA:1192 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba... |
OMIM:252920 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Pes planus, Overlapping toe, Short neck, ... |
ORPHA:177907 |
| Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... |
ORPHA:1830 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar c... |
ORPHA:83617 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis, Joint hypermobility |
OMIM:619542 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short h... |
ORPHA:2710 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis |
ORPHA:541423 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... |
OMIM:613658 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... |
ORPHA:261494 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract |
ORPHA:2273 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Scapular winging, Micrognathia, Hyperlordosis, Restrictive ventilatory defect |
OMIM:600462 |
| Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure, Long foot |
ORPHA:2707 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Cardiomegaly, Hydrocephalus, Tachypnea, Renal cyst, Cough, ... |
ORPHA:137675 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal,... |
OMIM:170390 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... |
ORPHA:37042 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Abnormal vertebral ... |
ORPHA:280 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hemivertebrae, Narrow chest, V... |
OMIM:213980 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Fabry Disease |
|
Dyspnea, Emphysema, Chronic pulmonary obstruction, Respiratory insufficiency |
ORPHA:324 |
| Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Angiokeratoma corporis d... |
OMIM:230500 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Elbow dislocation, Metaphyseal widening, Ra... |
OMIM:620083 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Multiple joint contractures, Facia... |
OMIM:305450 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Steatorrhea, Hyperbiliru... |
OMIM:557000 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Cutis marmorata... |
ORPHA:3260 |
| Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251100 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... |
ORPHA:116 |
| Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611561 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Flexi... |
ORPHA:254528 |
| Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Pneumonia, Craniosynostosis, Short neck, Pectus excavat... |
ORPHA:309282 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Hyperlordosis, Pectus excavatum, Short neck, ... |
ORPHA:2789 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Short neck, Micrognathia, Elbow dislocat... |
ORPHA:99776 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... |
OMIM:259770 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
| Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, Ectodermal dysplasia, Narrow chest, Joint laxity, Rhizomelia, Sa... |
OMIM:218330 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... |
OMIM:619727 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Spinal canal st... |
OMIM:101800 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Asthma, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly,... |
OMIM:619269 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Vesicour... |
ORPHA:261537 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Cyanosis, Dicarboxylic aciduria, Sudden episodic apnea, Oliguria, Respiratory insuf... |
ORPHA:159 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Genu valgum |
ORPHA:488627 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypoglycemia, Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Abnor... |
ORPHA:391428 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stif... |
OMIM:252940 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Palmar pits, Plantar pits, Abnormal rib morphology, Joint... |
ORPHA:77301 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
| Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, ... |
ORPHA:391474 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly... |
ORPHA:2588 |
| 3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morph... |
ORPHA:261197 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis |
OMIM:612513 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
| Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
| Felty Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor... |
OMIM:208085 |
| Kagami-Ogata Syndrome |
|
Respiratory failure requiring assisted ventilation, Kyphoscoliosis, Short neck, Coxa valga, Micro... |
ORPHA:254519 |
| Knobloch Syndrome |
|
Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Overlapping toe, Cyanosis |
OMIM:617478 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
| Short Stature-Micrognathia Syndrome |
|
Joint laxity, Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, 2-3... |
OMIM:617164 |
| Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Recurrent respiratory infections, Respiratory distress, Lumbar hyperlordosis... |
ORPHA:505248 |
| Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Recurrent sinopulmonary infections, Craniofacial hyperostosis, Join... |
ORPHA:581 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Re... |
OMIM:612301 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, 2-3 toe syndactyly, ... |
OMIM:139210 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ... |
OMIM:208150 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
| Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis |
OMIM:601186 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal lung morphology, Neonatal hypoglycemia, Hydronephrosis, Anomalous tracheal cartilage |
ORPHA:35173 |
| Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Recurrent respiratory infections, Lumbar hyperlordosis, Overlapping toe,... |
OMIM:618371 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Hypoglycemic seizures, X... |
ORPHA:79259 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm |
OMIM:614437 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Plantar crease between first and second toes, Single transverse palmar crea... |
OMIM:180849 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
| Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... |
ORPHA:79500 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Thoracic hypoplasia, Pulmonary hypoplasia, Neonatal death, Petechiae... |
OMIM:608013 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Delayed closure of the anterior font... |
OMIM:225410 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Spinal rigidit... |
ORPHA:268 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Pulmonary artery sling, Urinary incontinence, Vesicour... |
ORPHA:261552 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Splenom... |
ORPHA:90051 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Slend... |
OMIM:610536 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Bilateral trilobed lung, Congenital hip dislocation,... |
OMIM:306955 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis, Renal agenesis, Micropenis |
ORPHA:2326 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,... |
OMIM:251900 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
| Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:250989 |
| Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Pleural effusion, Pete... |
OMIM:617397 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Abnormal... |
ORPHA:2152 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Cyanosis, Apnea |
OMIM:619580 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pect... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pect... |
ORPHA:363958 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Adnp Syndrome |
|
Joint laxity, Respiratory distress, Broad hallux, Sandal gap, Single transverse palmar crease, Ab... |
ORPHA:404448 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Genu varum |
ORPHA:1969 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
| Constricting Bands, Congenital |
|
Syndactyly, Abnormal lung lobation, Abnormal rib cage morphology, Hand polydactyly, Talipes equin... |
OMIM:217100 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Neutropenia |
OMIM:618005 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Central apnea, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calc... |
ORPHA:522077 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney, Ectopic kidney |
OMIM:235510 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
| Sarcoidosis |
|
Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Pneumothorax, Bronchiectasis, Uppe... |
ORPHA:797 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Hydronephrosis |
OMIM:235255 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Joint laxity, Thoracolumbar scolios... |
ORPHA:480880 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia |
OMIM:232240 |
| Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
| Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Pe... |
ORPHA:565 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
| Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:604173 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Long thorax, Narrow chest, Recurrent aspiration pneumonia, Genu varum, Micr... |
OMIM:616268 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Calf muscle hypertrophy, Hyperlordosis |
OMIM:613157 |
| Cap Myopathy |
|
Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Central hypoventilation, Pectus excavatum, ... |
ORPHA:171881 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Kyphosis, Posterio... |
ORPHA:1393 |
| Familial Dysautonomia |
|
Recurrent respiratory infections, Renal insufficiency, Glomerulopathy, Abnormality of the kidney,... |
ORPHA:1764 |
| Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Anterior rib cupping, Pneumonia, Horizontal inferior border of scapula, Asthma, Recurr... |
OMIM:102700 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Pes planus, Congenital hip dislocation, Kyphoscol... |
ORPHA:2834 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf... |
ORPHA:293987 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Dyspnea, Jaundice, Osteoporosis, Genu valgum |
ORPHA:231226 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Hip dysplasia, Cutaneous finger sy... |
OMIM:616078 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micropenis, Abnormal renal morphology, Hydronephrosis |
ORPHA:1655 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Pes planus, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis, Long foot |
OMIM:617011 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Glomerular sclerosis,... |
OMIM:223900 |
| Marfan Syndrome |
|
Genu recurvatum, Equinus calcaneus, Micrognathia, Flexion contracture, Narrow foot, Pectus carina... |
OMIM:154700 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Single transverse palmar crease, Osteopor... |
OMIM:615273 |
| Campomelia, Cumming Type |
|
Bowing of the long bones |
OMIM:211890 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Prominent fingertip pads, Small hand, Respiratory distress, Sandal gap |
OMIM:612863 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Atelectasis, Asthma, Recurrent p... |
OMIM:188400 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney |
ORPHA:2953 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax |
ORPHA:558 |
| Autosomal Dominant Cutis Laxa |
|
Bronchiolitis, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
ORPHA:90348 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
| Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Stiff neck, Genu recurvatum, Elbow flexion contractu... |
ORPHA:79139 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
| Stickler Syndrome |
|
Joint dislocation, Recurrent respiratory infections, Arachnodactyly, Protrusio acetabuli, Microgn... |
ORPHA:828 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Recurrent respiratory infections, Pes planus, Broad hallux, Sandal gap, Tapered fin... |
OMIM:615873 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis |
OMIM:610443 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Recurrent respiratory infections, Short femur, Apnea, Flexio... |
ORPHA:17 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... |
ORPHA:79328 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Mesomelia, Scoliosis, Camptodactyl... |
OMIM:616894 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
| Criss-Cross Heart |
|
Abnormal thorax morphology, Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduced renal... |
OMIM:266920 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Pure Mitochondrial Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Shoulder girdle muscle weakness, Scoliosis, Hyporeflexia ... |
ORPHA:254854 |
| Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Rib fusion, Hemi... |
OMIM:304050 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Hyperlordosis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defec... |
ORPHA:26791 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Hyperammonemia, El... |
ORPHA:79282 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Respiratory tract infection, Abnormali... |
ORPHA:36234 |
| Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611134 |
| Fryns Syndrome |
|
Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short neck, Single transverse... |
OMIM:229850 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Neutropenia, Thrombocytopenia, Steatorrhea |
OMIM:617941 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Asthma, Rib fusion, Clinodactyly of the 5th finger, V... |
ORPHA:544488 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Respiratory insufficiency due to muscle wea... |
ORPHA:169189 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Renal hypoplasia |
OMIM:270100 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Spinal rigidity, Hyperlordosis, Recurrent pneumonia, Flexion contracture, Osteoporosi... |
OMIM:613327 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis |
ORPHA:847 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Hyperammonemia, Neutropenia |
OMIM:615471 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Hydronephrosis |
OMIM:608779 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Hyperlordosis, Kyphosis, Absent Achilles reflex, Scoliosis |
OMIM:128100 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Delayed cranial suture closure, Progeroid facial appearance, Decreased fi... |
OMIM:619127 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar mus... |
ORPHA:2232 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis |
OMIM:301040 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Talipes equinovarus, Asp... |
OMIM:618733 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Dyspnea, Jaundice, Osteoporosis, Genu valgum |
ORPHA:231214 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis |
OMIM:614921 |
| Early Infantile Epileptic Encephalopathy |
|
Micropenis, Renal dysplasia, Ureterocele |
ORPHA:1934 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Pes planus, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, ... |
ORPHA:287 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
| Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Micrognathia, Osteoarthritis, Reduced bone mineral density, ... |
ORPHA:740 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea |
ORPHA:26793 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
| Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
| Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction |
ORPHA:160 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Abnormality of the knee, Cyanosis, Calcification of the auricular cartilage... |
ORPHA:51608 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Short neck, Pectus excavatum, Micrognathi... |
OMIM:613610 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis |
ORPHA:900 |
| Leigh Syndrome |
|
Hyperalaninemia, Hypoglycemia, Anemia, Neutropenia |
ORPHA:506 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Flexion co... |
ORPHA:3042 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Tra... |
ORPHA:537 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Kyphoscoliosis |
ORPHA:98805 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Respiratory insufficiency, Thin ribs |
OMIM:615368 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Dysuria |
ORPHA:35687 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid r... |
ORPHA:50 |
| Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Micrognathia, Postaxial... |
ORPHA:261112 |
| Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema |
OMIM:617300 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia, Cutis marmorata, Short lower limbs, Bowing of the legs |
OMIM:219250 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Tachypnea, Cyanosis, Cardiomegaly |
ORPHA:3427 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Aspiration |
OMIM:614688 |
| Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitat... |
ORPHA:457359 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Palmoplantar keratoderma, Scoliosis, Abnormal hip bone morphology, Hyperlordosis |
ORPHA:3353 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Diaphyseal dysplasia, Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Overlapping toe, Craniosynostosis, Palmoplantar cutis laxa, Limited elbow e... |
OMIM:123790 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Death in infancy, Hepatomegaly, Cyanosis, Apnea, Hypospadias, Hyp... |
OMIM:252010 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Micrognathia, Abnormal tibia morpholo... |
ORPHA:363700 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis, Pes cavus |
OMIM:615980 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema, Abnormal rib mo... |
ORPHA:2907 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Short neck,... |
OMIM:249000 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... |
ORPHA:97360 |
| Familial Benign Copper Deficiency |
|
Diaphyseal thickening |
ORPHA:1551 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
| Proboscis Lateralis |
|
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis |
ORPHA:141099 |
| Fucosidosis |
|
Kyphosis, Acrocyanosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Sacral dimple, Pes planus,... |
OMIM:619950 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Patent ductus arteriosus after birth at term, Respiratory failure, Emphysema, Unilateral lung age... |
ORPHA:500150 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Ureterocele |
OMIM:616734 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger |
OMIM:208060 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder |
OMIM:616973 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,... |
ORPHA:1652 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Restrictive ventilatory defect, Hyperlordosis |
ORPHA:369840 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Neutropenia, D... |
OMIM:242840 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture |
OMIM:617239 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
| Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a... |
ORPHA:63259 |
| Familial Multiple Lipomatosis |
|
Bowing of the long bones |
ORPHA:199276 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Respiratory insufficiency, Thin ribs |
ORPHA:456328 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Prominent superficial blood vessels, Hypospadias, Hydropic placenta, Stillb... |
OMIM:275210 |
| Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis |
ORPHA:2745 |
| Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia |
OMIM:309800 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemiverteb... |
OMIM:617140 |
| Ileal Neuroendocrine Tumor |
|
Hydronephrosis |
ORPHA:100078 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
| Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Camptodactyly of finger, Recurrent upper respiratory tract infections, Flexion co... |
ORPHA:217085 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Pes planus, Kyphoscoliosis, Hyperlo... |
ORPHA:573278 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Distal Deletion 12Q |
|
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis |
ORPHA:96149 |
| Microsporidiosis |
|
Sinusitis, Pneumonia, Bronchitis, Urethritis, Abnormal tracheal morphology, Rhinitis, Abnormality... |
ORPHA:2552 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Vertebral f... |
OMIM:194190 |
| Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Camptodactyly of finger, Recurrent upper respiratory tract infections, Flexion co... |
ORPHA:217093 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Narrow chest, Genu varum, Long toe, Prematurely ag... |
OMIM:264090 |
| Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydronephrosis |
OMIM:115150 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ... |
OMIM:157800 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... |
OMIM:617099 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Erythema, Abnormal rib morphology, Flexion contractur... |
ORPHA:2908 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Abnormal rib morphology, Hemiverteb... |
OMIM:118450 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Cyanosis, Hypospadias |
OMIM:250790 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Cardiofaciocutaneous Syndrome |
|
Hydronephrosis |
ORPHA:1340 |
| Eosinophilic Fasciitis |
|
Arthritis, Acrocyanosis |
ORPHA:3165 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
| Pallister-Hall Syndrome |
|
Hemivertebrae, Abnormal lung lobation, Microretrognathia, Mesoaxial polydactyly, Radial bowing, R... |
ORPHA:672 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Urticaria, Arthritis, Acrocyanosis, Purpura |
ORPHA:343 |
| 3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency |
ORPHA:367 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Listeriosis |
|
Back pain, Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Jaundice, Res... |
ORPHA:533 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Pes cavus, Scoliosis |
OMIM:601152 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Peda... |
ORPHA:97214 |
| Cocaine Intoxication |
|
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach... |
ORPHA:90068 |
| Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
| Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... |
ORPHA:904 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Glycosuria |
OMIM:600001 |
| Q Fever |
|
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effus... |
ORPHA:781 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis |
OMIM:251260 |
| 7Q11.23 Microduplication Syndrome |
|
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:96121 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Micrognathia, Asthma, Small hand, Fibular hypoplasia, Hypoplasia of proximal radiu... |
ORPHA:444077 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Viss Syndrome |
|
Dyspnea, Asthma, Pneumothorax, Patent ductus arteriosus, Pulmonary artery aneurysm, Pulmonary art... |
OMIM:619472 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Hyperlordosis, Micrognathia, Clinodactyly of the 2nd ... |
ORPHA:73223 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hip dysplasia, Scoliosis, Hyperlordosis |
OMIM:615356 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Pes planus, Apnea, Elbow dislocation, Abnormal foot morphology, Osteoarthritis... |
ORPHA:285 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:280000 |
| Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Supernumerary ribs |
OMIM:613309 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Left ventricular hypertrophy, E... |
ORPHA:2299 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Type I... |
OMIM:606721 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac... |
ORPHA:2785 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Jaundice, Osteomyelitis leading to amputation due... |
OMIM:256810 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
| Apert Syndrome |
|
Hydronephrosis |
OMIM:101200 |
| Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
| Postinfectious Vasculitis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Pneumonia, Palpable pu... |
ORPHA:48435 |
| Dubowitz Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:235 |
| Infantile Krabbe Disease |
|
Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness, Respiratory distress |
ORPHA:206436 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
| Charge Syndrome |
|
Talipes, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Tracheoe... |
ORPHA:138 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Calf muscle pseudohypertrophy, Lumbar hyperlordosis |
ORPHA:370959 |
| Alexander Disease |
|
Osteopenia, Hyperlordosis, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis |
ORPHA:58 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Abnormal rib morphology, Pulmonary artery hypopla... |
ORPHA:991 |
| Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs |
OMIM:614833 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Telangiectasia of the skin, Bowing of the legs, Kyphosis, Abnormal lung morphology, O... |
ORPHA:97685 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Preaxial hand polydactyly... |
ORPHA:857 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
| Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy... |
ORPHA:340 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Pulmona... |
ORPHA:2255 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
| Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia... |
ORPHA:50918 |
| Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Palmoplantar cutis gyrata, Palmoplantar keratoderma, Respiratory distress, Craniosynostosis |
ORPHA:1555 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Micrognathia, Mandibular condyle hypoplasia, Mandibular condyle aplasia, Ab... |
ORPHA:137888 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:352665 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:506358 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
| Fraser Syndrome 1 |
|
Subglottic stenosis, Laryngeal stenosis, Encephalocele, Hypospadias, Renal hypoplasia/aplasia, My... |
OMIM:219000 |
| Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Rheumatoid arthritis |
ORPHA:589 |
| Pachyonychia Congenita |
|
Respiratory distress, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Palmar hyperkeratosis... |
ORPHA:2309 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal hypoglycemia, Neutropenia |
OMIM:617248 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Micrognathia, Hip dysplasia, Scoliosis, Clinodactyly of the 5th... |
OMIM:616975 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Kyphosis, Rib f... |
ORPHA:1606 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pes planus, Single transverse palmar crease, Asthma, Nasal flaring, Pes valgus, Short palm, Brach... |
ORPHA:466943 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab... |
OMIM:214800 |
| Cerebrofacioarticular Syndrome |
|
Tracheomalacia, Hypospadias, Renal hypoplasia, Abnormal tracheal morphology |
ORPHA:314679 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis |
OMIM:147920 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... |
ORPHA:353281 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
| Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Pediatric-Onset Graves Disease |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia |
ORPHA:525731 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
| Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... |
OMIM:136140 |
| Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull... |
OMIM:619488 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
| Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Hyperlordosis, Neoplasm of the... |
ORPHA:653 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:273 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Peters-Plus Syndrome |
|
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia |
OMIM:261540 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... |
ORPHA:3310 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, D... |
ORPHA:93325 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Stiff-Person Syndrome |
|
Lumbar hyperlordosis |
OMIM:184850 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Flushing |
ORPHA:2131 |
| Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Hyperlordosis, Short th... |
OMIM:113620 |
| Shprintzen Omphalocele Syndrome |
|
Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis |
OMIM:182210 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... |
ORPHA:805 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Delayed closure of the anterior f... |
OMIM:127000 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis |
ORPHA:438213 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
| Isolated Arrhinia |
|
Respiratory distress, Absent nasal septal cartilage |
ORPHA:1134 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease... |
ORPHA:416 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Pfeiffer Syndrome |
|
Tracheal cartilaginous sleeve, Hydrocephalus, Bronchomalacia |
OMIM:101600 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease... |
ORPHA:731 |
| Congenital Pulmonary Valvar Stenosis |
|
Laryngeal stenosis |
ORPHA:3189 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353277 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cutis marmorata, Arthritis, Scoliosis, Prolonged neonatal jaundice, ... |
ORPHA:51 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Respiratory distress, Kyphosco... |
ORPHA:79318 |
| Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis |
OMIM:620330 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Wide penis, Vesicoureteral reflux, Dilatation of... |
ORPHA:3455 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci... |
OMIM:259900 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Micrognathia, Dyspnea, Erythema, Respiratory failure, Mandib... |
ORPHA:2556 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
| Leptospirosis |
|
Respiratory distress, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage |
ORPHA:509 |
| Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Hype... |
OMIM:619991 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... |
OMIM:312870 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Subglottic stenosis, Partial anomalous pulmonary venous return, Anomalous pulmonary venous return |
OMIM:619657 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... |
OMIM:619534 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
| Alström Syndrome |
|
Respiratory distress, Pes planus, Thoracic scoliosis, Dorsocervical fat pad, Kyphosis, Short toe,... |
ORPHA:64 |
| Plague |
|
Acute infectious pneumonia, Arthritis, Abnormality of the elbow, Respiratory distress |
ORPHA:707 |
| Glomuvenous Malformation |
|
Abnormal renal morphology, Generalized abnormality of skin, Abnormal tracheal morphology |
ORPHA:83454 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Gitelman Syndrome |
|
Respiratory distress, Chondrocalcinosis, Gout |
ORPHA:358 |
| Johanson-Blizzard Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula |
OMIM:243800 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Laryngeal stenosis |
ORPHA:324540 |
