Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... |
OMIM:178110 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Joint laxity, Barrel-shaped chest, Lumbar hyperlordosi... |
OMIM:607095 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Pectus exca... |
OMIM:619131 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T... |
OMIM:215140 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Increased head circu... |
ORPHA:94068 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Smith-Mccort Dysplasia 2 |
|
Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho... |
OMIM:615222 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin... |
ORPHA:93351 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Dysplasia Epiphysealis Hemimelica |
|
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... |
ORPHA:1822 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contr... |
ORPHA:263463 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Barrel-shaped chest, Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Short... |
OMIM:612813 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc... |
OMIM:305620 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Metaphyseal widening, Delayed epiphyseal ... |
OMIM:177170 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Limitation o... |
ORPHA:3265 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Micromelia, Abnormal ... |
ORPHA:2635 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Metaphyseal widening, Tibial bowing, Barrel-shaped chest, Iris atrophy, Osteoporosis,... |
OMIM:259770 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Keratitis, Abnormal foot morphology, Osteoarthritis, ... |
ORPHA:1657 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Short neck, Adducted thumb, Uln... |
ORPHA:1147 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Barrel-shape... |
OMIM:239000 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Barrel-shaped chest, Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Short... |
ORPHA:171866 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... |
OMIM:612961 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th... |
ORPHA:957 |
Fucosidosis |
|
Barrel-shaped chest, Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral ... |
OMIM:230000 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... |
OMIM:123150 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Decreased finger mobility, Weakness of facial musculature, Limited knee flexion, Intrinsic hand m... |
ORPHA:63273 |
Anauxetic Dysplasia 2 |
|
Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kypho... |
OMIM:617396 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Short... |
ORPHA:363417 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Talonavicular Coalition |
|
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... |
OMIM:186750 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capi... |
OMIM:147891 |
Winchester Syndrome |
|
Arthropathy, Corneal opacity, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Bro... |
OMIM:277950 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... |
OMIM:208540 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic k... |
OMIM:613885 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... |
OMIM:617974 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... |
ORPHA:2204 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene... |
ORPHA:93360 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis... |
OMIM:184260 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Conjunctivitis, Atrial sept... |
ORPHA:505248 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Long thorax, Mesomelia, Abnormal mitral valve morphology, Brachydac... |
ORPHA:1277 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... |
OMIM:607944 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Cataract, Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossi... |
OMIM:618392 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Muenke Syndrome |
|
Tarsal synostosis, Macrocephaly, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis... |
ORPHA:53271 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-... |
ORPHA:1106 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... |
ORPHA:93307 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Delayed skeletal mat... |
OMIM:609441 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Pes planus, Atrial septal defect, Absent gallbladder, Ventricular septal def... |
OMIM:300712 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Vesicoureteral reflux, Abnormality of the wris... |
ORPHA:95699 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... |
ORPHA:2756 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Delayed skeletal maturation, Genu valgum, Slender long bones with narrow diaphyses, A... |
OMIM:608154 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis |
ORPHA:2010 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Skeletal muscle atrophy, Cartilage destruction, Delayed skeletal maturation, A... |
ORPHA:2380 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... |
OMIM:265900 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b... |
ORPHA:3429 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Multiple renal cysts... |
ORPHA:66637 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Menkes Disease |
|
Venous insufficiency, Intracranial hemorrhage, Narrow chest, Osteoporosis, Joint hyperflexibility... |
ORPHA:565 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
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 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Scarf Syndrome |
|
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral... |
OMIM:312830 |
Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankle, Tarsal synostosis |
ORPHA:1412 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... |
OMIM:251450 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Abnormal cerebral vascular morphology, Short neck, Increa... |
ORPHA:2616 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Microcephaly, Abnormal toe morphology, Abnormal carpal morpholog... |
OMIM:216100 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T... |
ORPHA:858 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal sp... |
ORPHA:2470 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Congestive heart failure, Limb-girdle muscle weaknes... |
OMIM:608099 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Pes planus, Hip contracture, Inguinal hernia, Thoracic hypoplasia, Kyphoscoliosis, Accelerated sk... |
OMIM:618363 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Short neck, Congestive heart failure, ... |
ORPHA:261519 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Cornea... |
OMIM:166300 |
Nail-Patella Syndrome |
|
Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ... |
ORPHA:2614 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si... |
OMIM:612651 |
Myasthenic Syndrome, Congenital, 19 |
|
Barrel-shaped chest, Facial palsy, Spinal rigidity, Distal joint laxity, Pectus carinatum, Increa... |
OMIM:616720 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fib... |
OMIM:609200 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T... |
ORPHA:2473 |
Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Toe syndactyly, Short neck, Coxa vara, Radial deviation of finger, Clinodact... |
OMIM:146390 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Vesicoureteral reflux, Pa... |
OMIM:157800 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finger,... |
ORPHA:2496 |
1Q21.1 Microduplication Syndrome |
|
Cataract, Hypospadias, Hip dislocation, Hip dysplasia, Talipes equinovarus, Macrocephaly, Arthrog... |
ORPHA:250994 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Multiple joint disl... |
OMIM:618395 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... |
ORPHA:206549 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... |
OMIM:156550 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Joint stiffness, Metatarsus adduct... |
ORPHA:584 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Pectus carinatum, At... |
OMIM:218040 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Abnormal form of the vertebral bodies, Enlarged thorax, Avascular necrosis, Sp... |
ORPHA:579 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... |
OMIM:269250 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared iliac bones, Fla... |
OMIM:215045 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Ventri... |
ORPHA:93267 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... |
OMIM:150250 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Large carpal bones, Lower limb asymmetry, Generalized ... |
ORPHA:99330 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Short neck, Pectus excavatum, De... |
ORPHA:163654 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... |
OMIM:300696 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... |
OMIM:620010 |
Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of t... |
ORPHA:1856 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Truncus arteriosus, Ventricular septal defect, Bilateral microph... |
OMIM:601186 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho... |
ORPHA:296 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopic... |
OMIM:252600 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobi... |
ORPHA:2741 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Flexion limi... |
OMIM:609115 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Hypertrophi... |
OMIM:617303 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo... |
ORPHA:371428 |
Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Short neck, Shield chest, Cubitus valgus, Micropenis |
ORPHA:261524 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Microcephaly, Joint stiffness, Lim... |
OMIM:609308 |
Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ... |
OMIM:615113 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Abnormal heart valve morphology, Cataract, Pulmonary emb... |
ORPHA:1345 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Talipes, Micromelia, Abnormal... |
ORPHA:1842 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... |
OMIM:615777 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... |
OMIM:620269 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, ... |
OMIM:259600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion cont... |
OMIM:271640 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
8P23.1 Microdeletion Syndrome |
|
Pes planus, Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Micro... |
ORPHA:251071 |
Seckel Syndrome 7 |
|
Microcephaly, Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dy... |
OMIM:614851 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Lumbar hyperlordosis, ... |
OMIM:256050 |
Noonan Syndrome 13 |
|
Joint laxity, Pes planus, Prominent metopic ridge, Overlapping toe, Tapered finger, Lower limb as... |
OMIM:619087 |
Orofaciodigital Syndrome Type 1 |
|
Reduced bone mineral density, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kidn... |
ORPHA:2750 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusio... |
OMIM:206920 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Muscle Filaminopathy |
|
Back pain, Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeleta... |
ORPHA:171445 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Multiple Synostoses Syndrome 4 |
|
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... |
OMIM:276700 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal... |
OMIM:301075 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... |
ORPHA:464329 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, ... |
ORPHA:399086 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of long finger extensor... |
ORPHA:399103 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, Cataract, Broad hallux, Kyphoscoliosis, Microcephaly, Hypermobility of int... |
ORPHA:3433 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Tarsal synostosis, Aplastic clavicle, Wide anterior fo... |
ORPHA:85199 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Micromelia, Hypop... |
ORPHA:93296 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Distal u... |
ORPHA:603 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr... |
OMIM:613313 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Short thorax, Ost... |
ORPHA:88630 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Abnormality of the ... |
ORPHA:3378 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu... |
ORPHA:93346 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Short neck, Oligosacchariduria, Thoracic kyphosis, Narrow chest, Abnormal bone ossification, Abno... |
ORPHA:163649 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Ventricular septal defect, Recurrent fractures, Micromelia, Microc... |
ORPHA:2772 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... |
OMIM:608836 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Distal joint laxity, Ge... |
ORPHA:1900 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Renal cyst, Iris coloboma, Dislocated radial head, Joint laxity, Hypospad... |
OMIM:102500 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cataract, Hyperlordosis, Fatty replacement of skeletal muscle, Congestive heart failure, Osteolys... |
ORPHA:52430 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Microcephaly, Short neck, Limitation of joi... |
ORPHA:2570 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia |
OMIM:615085 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... |
OMIM:161200 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Elevated ... |
OMIM:300280 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... |
OMIM:232220 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Horseshoe kidney, Narrow chest, Calcification of cartilage, Macr... |
ORPHA:2867 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... |
ORPHA:1486 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forearm bowing, Micromeli... |
OMIM:600383 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the... |
OMIM:255800 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Hammertoe, Pes cavus, Distal amyotrophy |
OMIM:610100 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Noonan Syndrome 7 |
|
Short neck, Pectus excavatum, Pectus carinatum, Shield chest, Deep palmar crease, Pulmonic stenos... |
OMIM:613706 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ... |
ORPHA:83468 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Equinovarus deformity, Micromelia, Short neck, Lens l... |
OMIM:224400 |
Proteus Syndrome |
|
Kyphoscoliosis, Venous malformation, Splenomegaly, Limbal dermoid, Mandibular hyperostosis, Spina... |
OMIM:176920 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Accelerated skeletal maturation, Short neck, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Hepatomegaly, Corneal opacity, Cataract, Ing... |
ORPHA:61 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Cardiomegaly, Metaphyseal widening, Megalocornea, Hepatomegaly, Thoracolumbar kyphosc... |
OMIM:252500 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... |
OMIM:108120 |
Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Common atrium, Postaxial hand polydactyly, Clubbing, Genu valgum,... |
OMIM:619143 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Multiple prenatal fractures, Cardiomegaly, Short neck, Flexion contractu... |
OMIM:616897 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Cantú Syndrome |
|
Accelerated skeletal maturation, Cardiomegaly, Short neck, Narrow chest, Broad ribs, Finger synda... |
ORPHA:1517 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Rhizomelic Chondrodysplasia Punctata |
|
Cataract, Rhizomelia, Microcephaly, Limitation of joint mobility, Epiphyseal stippling, Abnormal ... |
ORPHA:177 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Limited elbow extension, R... |
OMIM:614078 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites |
OMIM:269920 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Ge... |
OMIM:617952 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub... |
ORPHA:99646 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A... |
OMIM:600373 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Spondyloocular Syndrome |
|
Osteopenia, Pes planus, Long toe, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Long... |
OMIM:605822 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Thoracic scoliosis, Lower limb muscle weakness, Facial palsy, Myofibrillar myop... |
OMIM:612954 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Leopard Syndrome 3 |
|
Short neck, Delayed skeletal maturation, Shield chest, Abnormal aortic valve morphology, Macrocep... |
OMIM:613707 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Decreased pate... |
ORPHA:98912 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid content, Generaliz... |
ORPHA:171439 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Lateral clavicle hook, Femoral bowing, Abnorma... |
OMIM:274000 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Senior-Loken Syndrome |
|
Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Co... |
ORPHA:3156 |
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 |
Noonan Syndrome 2 |
|
Relative macrocephaly, Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ve... |
OMIM:605275 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Cataract, Microcephaly, Hypoplasia of the odontoid process, Sma... |
ORPHA:85172 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Osteopathia striata, Pectus carinatum, Finger joint hypermobility, Short palm... |
OMIM:212720 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex... |
OMIM:618280 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Abnormal clavicle morphology, Hydroureter, Hypospadias, Camptodactyly of finge... |
ORPHA:568 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Hyperlordosis, Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiph... |
ORPHA:2310 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calcification of t... |
OMIM:271665 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... |
ORPHA:2484 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Kyph... |
OMIM:617425 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Cataract, Rhizomelia, Microcephaly, Flexion contractu... |
OMIM:222765 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98853 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Hepatomegaly, ... |
OMIM:607014 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Wrist swelling, Limitation of joint mobility, Osteolysis, S... |
ORPHA:2774 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly... |
ORPHA:935 |
Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Short thumb, Limitation of joint mobility, M... |
ORPHA:3449 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... |
ORPHA:503 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Short neck, Lateral clavicle hook, Complete atrioventr... |
OMIM:617925 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Weill-Marchesani Syndrome 1 |
|
Broad skull, Broad ribs, Broad metacarpals, Lumbar hyperlordosis, Patent ductus arteriosus, Spina... |
OMIM:277600 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Hydroureter, Cataract, E... |
ORPHA:1458 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... |
ORPHA:98863 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Accelerated skeletal maturation, Heart block, Metaphyseal chondrodysplasia, Short nec... |
ORPHA:175 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N... |
OMIM:232200 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Singl... |
OMIM:616651 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... |
OMIM:616589 |
Dent Disease 1 |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobi... |
ORPHA:230851 |
Neonatal Marfan Syndrome |
|
Flexion contracture, Pectus carinatum, Talipes calcaneovarus, Enlarged thorax, Megalocornea, Long... |
ORPHA:284979 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... |
OMIM:121300 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality... |
ORPHA:178382 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98855 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Marked delay in b... |
OMIM:610797 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffness, Distal lower limb muscle weakn... |
ORPHA:320360 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Patent ductus arteriosus, Delayed skeletal maturation, Methylmalonic aciduria, C... |
OMIM:614857 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Organic aciduria, Scoliosis, Supr... |
OMIM:255100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Microcephaly, Flexion contracture, Developmental cataract, Abnormal left ventricula... |
OMIM:613155 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... |
ORPHA:171433 |
Alg3-Cdg |
|
Osteopenia, Cataract, Microcephaly, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, ... |
ORPHA:79321 |
Congenital Rubella Syndrome |
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Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Jaund... |
ORPHA:290 |
Meckel Syndrome |
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Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... |
ORPHA:564 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
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Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Congenital Myopathy 24 |
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Scapular winging, Facial palsy, First degree atrioventricular block, Pectus excavatum, Cardiomyop... |
OMIM:617336 |
Weill-Marchesani Syndrome 2 |
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Broad skull, Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordo... |
OMIM:608328 |
Steel Syndrome |
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Carpal synostosis, Pes planus, Lumbar hyperlordosis, Limited elbow extension, Hip dislocation, Co... |
OMIM:615155 |
Progressive Familial Intrahepatic Cholestasis |
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Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Ruvalcaba Syndrome |
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Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Microc... |
ORPHA:3121 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Autosomal Recessive Primary Microcephaly |
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Abnormal cortical bone morphology |
ORPHA:2512 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Microphthalmia |
ORPHA:77298 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Prominent veins on trunk, K... |
ORPHA:536532 |
Ataxia, Deafness, And Cardiomyopathy |
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Cardiomyopathy |
OMIM:208750 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Lumbar hyperlordosis, Microcephaly, Centrally nucleated skeletal muscle fibers, Limb-girdle muscl... |
ORPHA:86812 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thoracolumbar scoliosis, Microcephaly, Short neck, Flexion contracture, Cardiomyopathy, Myopathy,... |
OMIM:616549 |
Congenital Disorder Of Glycosylation, Type Ik |
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Hepatomegaly, Microcephaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture |
OMIM:608540 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
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Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Mietens Syndrome |
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Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Joint stiffness, Elbow ... |
ORPHA:2557 |
Hurler-Scheie Syndrome |
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Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Limitation of joint... |
ORPHA:93476 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Ta... |
OMIM:265000 |
Distal Myotilinopathy |
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Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
Linear Verrucous Nevus Syndrome |
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Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Cataract, Reduced bone mineral densit... |
ORPHA:2611 |
Hemochromatosis, Type 2A |
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Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis |
OMIM:602390 |
Immunodeficiency 84 |
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Splenomegaly, B lymphocytopenia |