Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... |
ORPHA:93284 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, Irregular carp... |
OMIM:226980 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Metaphyseal irregularity, Kyphosis, Prominent sternum, Be... |
OMIM:607326 |
Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Short neck, Platyspondyly, Rhizomelia, Small epiphyses, Cervical subluxation... |
OMIM:607095 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa vara, Bowing of the legs, Pectus excavatum, Barrel-shaped chest, Bowing... |
OMIM:619131 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Diaphyseal thicke... |
ORPHA:1802 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Upper limb undergr... |
ORPHA:94068 |
Greenberg Dysplasia |
|
Macrocephaly, Anterior rib punctate calcifications, Hepatomegaly, Horizontal sacrum, Barrel-shape... |
OMIM:215140 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Synostosi... |
ORPHA:1836 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tricuspid stenosis, Barrel-shaped chest, Short neck, Hypoplasia of the capital femoral epiphysis,... |
OMIM:143095 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Joint stiffness, Brachydactyly, Abnormality of the ankles, Bilateral single transverse palmar cre... |
ORPHA:968 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Carpal synostosis, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... |
ORPHA:93351 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... |
ORPHA:564003 |
Dysplasia Epiphysealis Hemimelica |
|
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... |
ORPHA:1822 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... |
OMIM:271700 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Flexion contracture, Barrel-shaped chest, Brachydactyly, Irregul... |
ORPHA:263463 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... |
ORPHA:53697 |
Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Synostosis of carpal bo... |
ORPHA:3250 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno... |
ORPHA:2639 |
Spondyloepiphyseal Dysplasia Congenita |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxial instability, Delayed... |
OMIM:183900 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... |
OMIM:184100 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Prominent st... |
OMIM:304950 |
Tarsal-Carpal Coalition Syndrome |
|
Carpal synostosis, Proximal symphalangism of hands, Distal symphalangism of hands, Short 1st meta... |
OMIM:186570 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Decreased calvarial ossification, Femoral bowing, Barrel-shaped chest, Platyspondyly,... |
OMIM:610915 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Relative macrocephaly, Metaphyseal widening, Barrel-shaped chest, Short nec... |
OMIM:612813 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... |
ORPHA:3152 |
Smith-Mccort Dysplasia 2 |
|
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Barrel-shaped chest, Platyspondy... |
OMIM:615222 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Distal upper limb muscle weakness, Limited... |
ORPHA:63273 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Long foot, Partial ... |
OMIM:305620 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularizat... |
ORPHA:2635 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Talipe... |
OMIM:200600 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Humero-Radial Synostosis |
|
Elbow ankylosis, Microcephaly, Abnormality of the wrist, Iris coloboma, Tarsal synostosis, Aplasi... |
ORPHA:3265 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... |
ORPHA:2098 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Metaphyseal widening, Barrel-shaped chest, Microcephaly, Platyspondyly, Osteoporo... |
OMIM:259770 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Abnormality of the hand, Osteoarthritis, Brachydactyly, Scoliosis, Abnormality of the ... |
ORPHA:1657 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Sheldon-Hall Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Ove... |
ORPHA:1147 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Proximal symphalangism of hands, Aplasia/Hypop... |
OMIM:611377 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Recurrent fractures, Kyphosis, Macrocephaly, Relative macrocephaly, Increased ... |
OMIM:239000 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Ureteral obstruction, Cataract, Bowing of the long bones, Omp... |
ORPHA:90652 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Relative macrocephaly, Barrel-shaped chest, Short neck, Brachydactyly, Meso... |
ORPHA:171866 |
Fucosidosis |
|
Glycopeptiduria, Tortuosity of conjunctival vessels, Lumbar hyperlordosis, Hepatomegaly, Oligosac... |
OMIM:230000 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... |
ORPHA:957 |
Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... |
OMIM:612961 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
Anauxetic Dysplasia 2 |
|
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Relative macrocephaly, Flexion contract... |
OMIM:617396 |
Gne Myopathy |
|
Scapular winging, Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, ... |
ORPHA:602 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Narrow chest, Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe synd... |
OMIM:263540 |
Subaortic Stenosis--Short Stature Syndrome |
|
Short toe, Pectus excavatum, Membranous subvalvular aortic stenosis, Small hand, Barrel-shaped ch... |
OMIM:271960 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysi... |
OMIM:277950 |
Brachyolmia Type 3 |
|
Kyphosis, Barrel-shaped chest, Platyspondyly, Short neck, Short femoral neck, Scoliosis, Clinodac... |
OMIM:113500 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Parti... |
ORPHA:363417 |
Talonavicular Coalition |
|
Clinodactyly of the 5th finger, Abnormality of the ankles, Short hallux, Coalescence of tarsal bo... |
OMIM:186750 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Wide capital femoral epiphyses, Pes planu... |
OMIM:147891 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ... |
ORPHA:970 |
Brachydactyly, Mononen Type |
|
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... |
OMIM:301940 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium, Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short ... |
OMIM:618469 |
Nievergelt Syndrome |
|
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... |
OMIM:163400 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... |
OMIM:618363 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Familial Expansile Osteolysis |
|
Osteolysis, Thin bony cortex, Bowing of the long bones, Pathologic fracture |
OMIM:174810 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Symphalangism, Proximal, 1A |
|
Carpal synostosis, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of... |
OMIM:185800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle at... |
OMIM:608099 |
Holt-Oram Syndrome |
|
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Hypoplasia of the ... |
OMIM:142900 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... |
OMIM:114000 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Synostoses, Tarsal, Carpal, And Digital |
|
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... |
OMIM:186400 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Broad metatarsal, Hallux varus, Short metatar... |
OMIM:123150 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Brachydactyly, Long thorax, Mesomelia, Abnormal shoulder morpho... |
ORPHA:1277 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, Limb undergrow... |
ORPHA:2204 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Pectus carinatum, Cataract, Block vertebrae, Delayed skeletal maturation, Vertebral s... |
OMIM:272460 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Nephronophthisis, Platyspondyly... |
OMIM:184260 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Short neck, Heparan sulfate excretion in urine, Pectus carinatum, Enlarged k... |
ORPHA:505248 |
Fatco Syndrome |
|
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
Muenke Syndrome |
|
Carpal synostosis, Macrocephaly, Coronal craniosynostosis, Cone-shaped epiphysis, Short foot, Tar... |
ORPHA:53271 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Macrocephaly, Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hypopla... |
ORPHA:1307 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Irregular vertebral endplates, Metaphyseal irregularity, Sclerosis of skull base, Metaphyseal dys... |
OMIM:607944 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... |
ORPHA:239 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... |
ORPHA:166277 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... |
OMIM:607078 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia |
OMIM:615524 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Craniofacioskeletal Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Small hand, Hypospadias, Barrel-shaped ches... |
OMIM:300712 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Talipes equinova... |
OMIM:609441 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Accelerated skeletal maturation, Short metacarpal, Arthralgia of the hip, Upper limb undergrowth,... |
ORPHA:93307 |
Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial... |
OMIM:276820 |
Radial Hemimelia |
|
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Platyspondyly, Upper limb undergrowth, Cataract, Flared, irregular rib ends, Thoracic... |
ORPHA:168549 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Microphthalmia |
OMIM:221950 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... |
ORPHA:1525 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... |
ORPHA:95699 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender long bones with narrow diaphyses, Abnormal rib cage morphology, Osteopenia, Metaphyseal s... |
OMIM:608154 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... |
OMIM:605282 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz... |
ORPHA:1952 |
Legg-Calvé-Perthes Disease |
|
Avascular necrosis, Joint dislocation, Cartilage destruction, Delayed skeletal maturation, Skelet... |
ORPHA:2380 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Abnormality of the wrist, Carpal synostosis, Abnormality of the ankles, Tarsal synostosis |
ORPHA:2010 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Hemothorax, Scapular exostoses, Limitation of knee mobility, Abn... |
ORPHA:321 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Abnormal form of the vertebral bodies, Limb undergrowth, Abnorma... |
ORPHA:3429 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Cataract, Pedal edema,... |
ORPHA:166011 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Microphthalmia With Limb Anomalies |
|
Abnormality of the upper limb, Sandal gap, Horseshoe kidney, Bowing of the long bones, Short long... |
ORPHA:1106 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
Menkes Disease |
|
Pectus excavatum, Abnormal carotid artery morphology, Aplasia/Hypoplasia of the abdominal wall mu... |
ORPHA:565 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... |
ORPHA:457395 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... |
OMIM:185700 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, R... |
ORPHA:2470 |
Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankles, Tarsal synostosis |
ORPHA:1412 |
Scarf Syndrome |
|
Diastasis recti, Short sternum, Inguinal hernia, Micropenis, Coronal craniosynostosis, Barrel-sha... |
OMIM:312830 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Multiple renal cysts, Ab... |
ORPHA:66637 |
Endocrine-Cerebroosteodysplasia |
|
Narrow chest, Ulnar deviation of the hand, Postaxial polydactyly, Preaxial polydactyly, Micropeni... |
OMIM:612651 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, A... |
ORPHA:2616 |
Juberg-Hayward Syndrome |
|
Abnormality of toe, Microcephaly, Limited elbow extension, Horseshoe kidney, Abnormality of the r... |
OMIM:216100 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Nail-Patella Syndrome |
|
Talipes calcaneovarus, Abnormality of femur morphology, Proximal finger joint hyperextensibility,... |
ORPHA:2614 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Distal upper limb muscle weakness, Spinal rigidity, Skeletal musc... |
OMIM:619566 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Macrocephaly, Short neck, Platyspondyly, Abnormal... |
ORPHA:485 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Tibial Hemimelia |
|
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
Maternal Uniparental Disomy Of Chromosome X |
|
Flexion contracture, Hepatic failure, Camptodactyly of finger, Microcephaly, Shield chest, Short ... |
ORPHA:261519 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Mesomelic Dysplasia, Kantaputra Type |
|
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Wrist pain, Metata... |
OMIM:166300 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... |
OMIM:183849 |
Caffey Disease |
|
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Periosteal thic... |
ORPHA:1310 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Myopathy, Myofibrillar, 3 |
|
Hyporeflexia of lower limbs, Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart... |
OMIM:619795 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Single ventricle, Anophthalmia, H... |
OMIM:601186 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle... |
ORPHA:2496 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Cone-shaped epiphysis, Ventricular septal defect, Horseshoe k... |
OMIM:157800 |
Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior... |
OMIM:311300 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Microphthalmia, Anemia, L... |
ORPHA:858 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ventricular septal d... |
OMIM:614876 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum |
OMIM:618392 |
Mucopolysaccharidosis Type 1 |
|
Macrocephaly, Abnormal epiphysis morphology, Mucopolysacchariduria, Abnormal metaphysis morpholog... |
ORPHA:579 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Atrial septal defect, Hypoplastic left heart, Glandular hypospadias, Br... |
ORPHA:2473 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Mucopolysaccharidosis Type 7 |
|
Joint stiffness, Corneal opacity, Arteriovenous malformation, Enlarged thorax, Abnormal hip bone ... |
ORPHA:584 |
Larsen Syndrome |
|
Pectus excavatum, Talipes equinovalgus, Pectus carinatum, Ventricular septal defect, Elbow disloc... |
OMIM:150250 |
Kniest Dysplasia |
|
Enlarged joints, Pectus excavatum, Short neck, Platyspondyly, Hypoplastic pelvis, Rhizomelia, Cat... |
OMIM:156550 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... |
ORPHA:50809 |
Schneckenbecken Dysplasia |
|
Macrocephaly, Short neck, Platyspondyly, Ovoid vertebral bodies, Dumbbell-shaped long bone, Thora... |
OMIM:269250 |
1Q21.1 Microduplication Syndrome |
|
Macrocephaly, Talipes equinovarus, Hypospadias, Tetralogy of Fallot, Cataract, Arthrogryposis mul... |
ORPHA:250994 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Wide anterior fontanel, Macrocephaly, Talipes equinovarus, Atrial septal defect, Hy... |
ORPHA:2347 |
Costello Syndrome |
|
Macrocephaly, Barrel-shaped chest, Short neck, Pectus carinatum, Ventricular septal defect, Lymph... |
OMIM:218040 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Ventricular septal defect,... |
ORPHA:93267 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Narrow chest, Metaphyseal cupping, Platyspondyly, Micromelia, Hyp... |
ORPHA:85166 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Enlarged thorax, Pectus excavatum, Limited pronation/supination of forearm, Rhizo-meso-acromelic ... |
ORPHA:163654 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Back pain, Spinal rigidity, Skeletal muscle hypertrophy, EMG: myopathic a... |
OMIM:300696 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
49,Xyyyy Syndrome |
|
Generalized joint laxity, Finger clinodactyly, Short 5th finger, Scoliosis, Radioulnar synostosis... |
ORPHA:99330 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Lateral humeral condyle aplasia, Camptodactyly of finger, Megalocornea, Synostos... |
ORPHA:2741 |
Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Accelerated skeletal maturation, Short ribs, Flared metaph... |
OMIM:215045 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... |
OMIM:314390 |
Ollier Disease |
|
Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology, Multiple e... |
ORPHA:296 |
Bone Dysplasia, Lethal Holmgren Type |
|
Narrow chest, Abnormality of femur morphology, Metaphyseal dysplasia, Joint dislocation, Atrial s... |
ORPHA:1842 |
Rare Circulatory System Disease |
|
Periostosis, Abnormal hand morphology, Knee pain, Intermittent claudication, Abnormality of finge... |
ORPHA:98028 |
Paternal Uniparental Disomy Of Chromosome X |
|
Micropenis, Short neck, Shield chest, Cubitus valgus, Short metacarpal |
ORPHA:261524 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Decreased movement range in interphalangeal joints, Rimmed vacuoles, Pelvic girdle muscle weaknes... |
OMIM:609115 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... |
ORPHA:392 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Avascular necrosis, Joint stiffness, Osteoarthritis, Platyspondyly, Pulmonary embolism, Arrhythmi... |
ORPHA:1345 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Decreased skull ossification, Bowing of the long bones, Abnorma... |
ORPHA:2097 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Genu recurvatum, Inguinal hernia, Pes planus, Joint laxity, Cataract, Hip dislocation, Decreased ... |
OMIM:608763 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Atrial septal defect, Nephritis, Hepatomegaly, Splenomegaly, Renal tubular at... |
OMIM:617303 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis, Omphalocele, Pterygi... |
ORPHA:371428 |
Desbuquois Dysplasia 2 |
|
Pectus excavatum, Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Platyspondyly, Pe... |
OMIM:615777 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia, C... |
OMIM:613313 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Cystic renal... |
OMIM:156810 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ve... |
OMIM:271640 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Mul... |
ORPHA:464329 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Anterior polar cataract, Genu valgum, Irregular iliac crest, Short long bone, Meta... |
OMIM:250420 |
8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Enlarged thorax, Hypoplastic left heart, Congenital diaphragm... |
ORPHA:251071 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, Microcephaly, Cataract, Arthrogryposis multiplex congenita, Hip dislocation |
OMIM:212540 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Horizontal sacrum, Short neck, Micromelia, Platyspondyly, Sand... |
OMIM:256050 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Thin bony cortex, Thin metacarpal cortices, C1-C2 subluxation, Delayed closure of the... |
OMIM:259600 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Enlarged thorax, Adducted thumb, Camptodactyly of finger, Microcepha... |
ORPHA:2570 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... |
OMIM:127200 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Hyperechogenic kidneys, Microphthalmia |
OMIM:613885 |
Noonan Syndrome 13 |
|
Overlapping toe, Enlarged thorax, Atrial septal defect, Blue irides, Bilateral talipes equinovaru... |
OMIM:619087 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... |
OMIM:608836 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Seckel Syndrome 7 |
|
Microcephaly, Lumbar scoliosis, Madelung deformity, Clinodactyly, Delayed skeletal maturation, Hi... |
OMIM:614851 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car... |
OMIM:276700 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Brachydactyly, Pes planus, Tarsal synostosis, Broad foot |
OMIM:617898 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger... |
ORPHA:73 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
Nail-Patella Syndrome |
|
Pectus excavatum, Microcornea, Hematuria, Glenoid fossa hypoplasia, Hypoplastic radial head, Bice... |
OMIM:161200 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, Microcephaly, Atlantoaxial abnormality, Hypermobility of interphalangeal joints, ... |
ORPHA:3433 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormality of the ankles, Thickened Achilles tendon, Knee osteoarthritis, Ent... |
ORPHA:85438 |
Orofaciodigital Syndrome Type 1 |
|
Exocrine pancreatic insufficiency, Cone-shaped epiphysis, Abnormality of the pancreas, Proteinuri... |
ORPHA:2750 |
Achondrogenesis Type 2 |
|
Narrow chest, Abnormal bone ossification, Lens subluxation, Unossified sacrum, Delayed proximal f... |
ORPHA:93296 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Thin bony cortex, Rhizomelia, Broad thumb, Short 4th metacarpal, Short 5th metaca... |
OMIM:619638 |
Spondyloocular Syndrome |
|
Atrial septal defect, Osteopenia, Shield chest, Long fingers, Mitral valve prolapse, Pes planus, ... |
OMIM:605822 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Joint contracture of the hand, Skeletal muscle hypertrophy, Camptodactyly of toe, Pes c... |
OMIM:300280 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Macrocephaly, Abnormal morphology of ulna, Brach... |
ORPHA:1275 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Hypoplastic left heart, Hypoplasia of penis, Decreased calvarial ossificatio... |
ORPHA:2772 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Microcephaly, Limb-girdle muscle weak... |
OMIM:609308 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Hajdu-Cheney Syndrome |
|
Abnormal cardiac septum morphology, Osteopenia, Foot acroosteolysis, Short neck, Biconcave verteb... |
OMIM:102500 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Distal upper limb muscle weakness, Myofiber disarray,... |
OMIM:301075 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... |
ORPHA:93346 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, Ca... |
OMIM:617713 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Calvarial hyperostosis, EMG: myopathic abnormalities, Rimm... |
ORPHA:52430 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Wide anterior fontanel, Abnormal clavicle morphology, Coronal craniosynostosis, Delayed... |
ORPHA:85199 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... |
OMIM:105835 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Short neck, Platyspondyly, Anisospondyly, Cataract, Hemiatrophy of upper limb, Ov... |
ORPHA:163649 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Hepatomegaly, Scoliosis, Osteoporosis, Macrovesicular hepatic steatosis, Hypertrophic c... |
OMIM:618234 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Pectus excavatum, Osteopenia, Microcornea, Thoracic kyphoscoliosis, Aortic dissection, Hip sublux... |
ORPHA:1900 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Short Stature, Brussels Type |
|
Narrow chest, Delayed epiphyseal ossification, Macrocephaly, Calcification of cartilage, Horsesho... |
ORPHA:2867 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Slender long bone, Abnormal cortical bone morp... |
ORPHA:1486 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Ck Syndrome |
|
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Schwartz-Jampel Syndrome, Type 1 |
|
Quadriceps muscle weakness, Congenital hip dislocation, Micromelia, Microcornea, Pectus carinatum... |
OMIM:255800 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Carpal synostosis, Advanced ossification of carpal bones, Epiphyseal dysplasia, Talipes equinovar... |
OMIM:615349 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Pectus excavatum, Rhizo-meso-acromelic limb shortening, Short neck, Platyspondyly, Small epiphyse... |
OMIM:611717 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Ascites, Jaundice, Cardiomegaly, Card... |
ORPHA:615 |
Duchenne And Becker Muscular Dystrophy |
|
Joint stiffness, Reduced bone mineral density, Scoliosis, Slender long bone, Hyperlordosis, Hyper... |
ORPHA:262 |
Trisomy 13 |
|
Atrial septal defect, Abnormality of the ureter, Anophthalmia, Multiple renal cysts, Ventricular ... |
ORPHA:3378 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Humeroradial Synostosis With Craniofacial Anomalies |
|
Carpal synostosis, Humeroradial synostosis, Tarsal synostosis |
OMIM:236410 |
Noonan Syndrome 7 |
|
Pectus excavatum, Atrial septal defect, Macrocephaly, Pulmonic stenosis, Deep palmar crease, Shor... |
OMIM:613706 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Martsolf Syndrome 2 |
|
Overlapping toe, Camptodactyly of finger, Microcephaly, Camptodactyly, Cataract, Developmental ca... |
OMIM:619420 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... |
OMIM:108120 |
Mucolipidosis Ii Alpha/Beta |
|
Pectus excavatum, Hepatomegaly, Craniosynostosis, Osteopenia, Megalocornea, Bullet-shaped phalang... |
OMIM:252500 |
Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis, Hypertrophy of skin of soles, Macrocephaly, Calvarial hype... |
OMIM:176920 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cataract, Cardiomyopathy |
OMIM:225740 |
Mucopolysaccharidosis, Type Vii |
|
Macrocephaly, Hepatomegaly, Anterior beaking of lumbar vertebrae, Short neck, Heparan sulfate exc... |
OMIM:253220 |
Cardioacrofacial Dysplasia 2 |
|
Narrow chest, Clinodactyly of the 5th finger, Atrioventricular canal defect, Brachydactyly, Left ... |
OMIM:619143 |
Alpha-Mannosidosis |
|
Avascular necrosis, Kyphosis, Corneal opacity, Macrocephaly, Hepatomegaly, Inguinal hernia, Splen... |
ORPHA:61 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... |
OMIM:200995 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Cantú Syndrome |
|
Macrocephaly, Accelerated skeletal maturation, Short neck, Platyspondyly, Broad ribs, Ovoid verte... |
ORPHA:1517 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Hammertoe, Pes cavus, Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing |
OMIM:615066 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... |
OMIM:274000 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... |
ORPHA:2502 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly |
OMIM:269920 |
Rhizomelic Chondrodysplasia Punctata |
|
Microcephaly, Scoliosis, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphysis m... |
ORPHA:177 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow chest, Advanced ossification of carpal bones, Joint contracture of the hand, Lens luxation... |
OMIM:224400 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Small hand, Microcephaly... |
ORPHA:85172 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:264700 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Macrocephaly, Broad carpal bones, Short neck, Metaphyseal chondromat... |
ORPHA:99646 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Thoracic hypoplasia, Cardiomega... |
OMIM:616897 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Codas Syndrome |
|
Atrioventricular canal defect, Congenital hip dislocation, Ventricular septal defect, Broad skull... |
OMIM:600373 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Childhood-Onset Nemaline Myopathy |
|
Narrow chest, Facial diplegia, Nemaline bodies, Spinal rigidity, Flexion contracture, EMG: myopat... |
ORPHA:171439 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Flexion contracture, Macroglossia, Microcephaly, Muscular dys... |
OMIM:613155 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Leopard Syndrome 3 |
|
Abnormal mitral valve morphology, Macrocephaly, Short neck, Abnormal aortic valve morphology, Shi... |
OMIM:613707 |
Myopathy, Myofibrillar, 6 |
|
Spinal rigidity, EMG: myopathic abnormalities, Pes cavus, Muscular dystrophy, Scoliosis, Myofibri... |
OMIM:612954 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Femoral bowing, Thin bony cortex, Joint laxity, Bowing of the long bones, Jo... |
OMIM:617952 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Cone-shaped epiphysis, Abnormality of bone mineral dens... |
ORPHA:3156 |
Noonan Syndrome 2 |
|
Mitral stenosis, Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Relative ma... |
OMIM:605275 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Broad femoral neck, Thin bony... |
ORPHA:85184 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... |
OMIM:606895 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Portal hypertension,... |
OMIM:616589 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Mucopolysaccharidosis, Type Vi |
|
Macrocephaly, Prominent sternum, Hepatomegaly, Pectus carinatum, Genu valgum, Broad ribs, Ovoid v... |
OMIM:253200 |
Martsolf Syndrome 1 |
|
Pectus excavatum, Finger joint hypermobility, Pectus carinatum, Broad fingertip, Cataract, Cardia... |
OMIM:212720 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Lower limb pain, Leg muscle stiffness, Distal lower limb muscle weak... |
ORPHA:320360 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Micropenis, Scimitar anomaly, Accessory spleen, Hep... |
OMIM:618280 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of femur morphology, Scoliosis, Hyperlordosis, Abnormal epiphysis morphology, Catarac... |
ORPHA:2310 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Telangiectasia, Portal hypertension |
OMIM:615506 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology |
ORPHA:85447 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Increased red cell sickling ... |
OMIM:603903 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Pyknoachondrogenesis |
|
Sclerosis of skull base, Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Shor... |
ORPHA:3003 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... |
OMIM:600649 |
D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric aciduria, Cardiomyopathy |
OMIM:613657 |
Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Hepatomegaly, Accelerated skeletal maturation, Abnormally oss... |
ORPHA:175 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Dislocated radial head, Epiphyseal dysplasia, Metaphyseal dysplasia, Delayed ossification of carp... |
OMIM:617425 |
Hurler Syndrome |
|
Macrocephaly, Hepatomegaly, Calvarial hyperostosis, Short neck, Hypoplasia of the femoral head, H... |
OMIM:607014 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Microcephaly, B... |
OMIM:617604 |
Microphthalmia, Lenz Type |
|
Kyphosis, Clinodactyly of the 5th finger, Abnormal clavicle morphology, Hypospadias, Camptodactyl... |
ORPHA:568 |
Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98853 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Abnormal metaphysis morphology, Reduced bone mineral density, Long fibula, Agammaglo... |
ORPHA:935 |
Congenital Vertical Talus |
|
Equinus calcaneus, Ankle pain, Abnormality of the foot musculature, Lower extremity joint disloca... |
ORPHA:178382 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Scoliosis, Organic aciduria, Fatty replacement of skeletal muscle, ... |
OMIM:255100 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... |
OMIM:615559 |
Larsen Syndrome |
|
Laryngotracheomalacia, Short distal phalanx of finger, Large joint dislocations, Vertebral segmen... |
ORPHA:503 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Nephropathy, Slender long bone, Abnormality of the wrist, Osteolysis, Ca... |
ORPHA:2774 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Codas Syndrome |
|
Coronal cleft vertebrae, Short metacarpal, Hydroureter, Congenital hip dislocation, Brachydactyly... |
ORPHA:1458 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxi... |
OMIM:617925 |
Roifman Syndrome |
|
Irregular vertebral endplates, Hip contracture, Short toe, Clinodactyly of the 5th finger, Hepato... |
OMIM:616651 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Neonatal Marfan Syndrome |
|
Talipes calcaneovarus, Tricuspid valve prolapse, Megalocornea, Pectus carinatum, Heart murmur, Ir... |
ORPHA:284979 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98863 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Carpal synostosis, Chordee, Vesicovaginal fistula, Joint contracture of the hand, Craniosynostosi... |
OMIM:201750 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
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Pectus excavatum, Tendon rupture, Recurrent shoulder dislocation, Genu valgum, Sandal gap, Aortic... |
ORPHA:230851 |
Weill-Marchesani Syndrome 1 |
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Thin bony cortex, Ventricular septal defect, Broad skull, Cataract, Broad ribs, Ectopia lentis, S... |
OMIM:277600 |
Immunodeficiency 69 |
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Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Dent Disease 1 |
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Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:300009 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Pectus excavatum, Osteopenia, Hammertoe, Phalangeal dislocation, Sandal gap, Aortic root aneurysm... |
ORPHA:536532 |
Epiphyseal Dysplasia, Baumann Type |
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Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
Microphthalmia, Isolated 8 |
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Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Short neck, ... |
OMIM:265000 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... |
OMIM:271665 |
Oculocerebrocutaneous Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:164180 |
Carnitine Deficiency, Systemic Primary |
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Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... |
OMIM:212140 |
Hurler-Scheie Syndrome |
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Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Vitamin D-Dependent Rickets, Type 2A |
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Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:277440 |
Igg4-Related Kidney Disease |
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Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... |
ORPHA:449395 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
Retinopathy, Pigmentary, And Mental Retardation |
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Arachnodactyly, Microcephaly, Scoliosis, Narrow palm, Cataract, Joint hypermobility |
OMIM:268050 |
Hemochromatosis, Type 2A |
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Hepatomegaly, Splenomegaly, Cirrhosis, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:602390 |
Diaphanospondylodysostosis |
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Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... |
OMIM:608022 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Alg3-Cdg |
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Decreased liver function, Macroglossia, Osteopenia, Microcephaly, Coarctation of the descending a... |
ORPHA:79321 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Laryngotracheomalacia, Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Delayed ossific... |
OMIM:271510 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
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Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... |
ORPHA:1046 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Hemochromatosis, Type 1 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, A... |
OMIM:235200 |
Weill-Marchesani Syndrome |
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Limitation of joint mobility, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Bra... |
ORPHA:3449 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Hypoplasia of penis, Hypospadias, Anophthalmia, Ventricular septal defect, Microphthalmia |
ORPHA:77298 |
Anencephaly 2 |
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Anophthalmia |
OMIM:619452 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Ruvalcaba Syndrome |
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Narrow chest, Kyphosis, Clinodactyly of the 5th finger, |