Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abn... |
ORPHA:1802 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular... |
ORPHA:79106 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Structural foot deformity, Joint stiffness, Abnormality of the fifth meta... |
ORPHA:564003 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Diaphyseal thickening, Cranial hyp... |
ORPHA:3416 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling |
OMIM:600121 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... |
ORPHA:3152 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... |
OMIM:600785 |
Medial Condensing Osteitis Of The Clavicle |
|
Patchy reduction of bone mineral density, Limited shoulder movement |
ORPHA:57196 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormality of the k... |
ORPHA:970 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyelitis, Bowing... |
ORPHA:53697 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Osteolysis, Pathologic fracture, Bowing of the long bones |
OMIM:174810 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Hyaline Fibromatosis Syndrome |
|
Osteolysis, Osteoporosis, Progressive flexion contractures, Osteopenia, Failure to thrive, Flexio... |
OMIM:228600 |
Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal trabecular bone mo... |
ORPHA:75508 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... |
ORPHA:2779 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... |
ORPHA:3344 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis |
OMIM:608805 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi... |
ORPHA:166277 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of limb bone morphology, Increased bone mineral density, Abnormal cortical bone morph... |
ORPHA:2204 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Osteolysis |
ORPHA:2776 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Osteolysis, Anemia, Osteoporosis, Splenomegaly, Weight loss |
ORPHA:100024 |
Osteosarcoma |
|
Abnormal tibial metaphysis morphology, Osteolysis, Abnormal metaphysis morphology, Pathologic fra... |
ORPHA:668 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Sclerosis of middle finger phalanx, Broad radial metaphysis... |
ORPHA:85188 |
Cranio-Osteoarthropathy |
|
Deviation of finger, Abnormal cortical bone morphology, Joint stiffness, Abnormality of the knee,... |
ORPHA:1525 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Osteolysis, Joint stiffness, Abnormal diaphysis morphology |
ORPHA:2028 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Limb undergrowth, Coronal cleft vertebrae, Short tibia, Short 4th metacarpal, Short 3rd metacarpa... |
OMIM:118651 |
Caffey Disease |
|
Calvarial hyperostosis, Bowing of the legs, Cortical irregularity, Joint hypermobility, Periostea... |
OMIM:114000 |
Pyle Disease |
|
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron... |
OMIM:265900 |
Hip Dysplasia, Beukes Type |
|
Hip dysplasia, Abnormality of bone mineral density, Osteoarthritis, Abnormal epiphysis morphology... |
ORPHA:2114 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia |
ORPHA:158014 |
Gorham-Stout Disease |
|
Patchy reduction of bone mineral density, Osteolysis, Pathologic fracture, Osteolysis involving b... |
ORPHA:73 |
Fibular Hemimelia |
|
Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia... |
ORPHA:93323 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Rhizomelia, Short 4th metacarpal, Broad thumb, Femoral bowing, Short 5th metacarpal, ... |
OMIM:619638 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Joint... |
ORPHA:2635 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Periosteal thickening of long... |
ORPHA:1310 |
Nephrosialidosis |
|
Death in childhood, Bone-marrow foam cells, Renal insufficiency, Nephropathy, Nephrotic syndrome,... |
OMIM:256150 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Reduced bone mineral density, Metaphyseal chondrodysplasia, Short lower limbs, Abnormal metaphysi... |
ORPHA:2501 |
Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... |
OMIM:271530 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Osteolysis, Metacarpal osteolysis, Cachexia, Carpal osteolysis, Slender ... |
ORPHA:2774 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Osteolysis, Fractures of the long bones |
OMIM:167250 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... |
OMIM:619598 |
Osteogenesis Imperfecta, Type Xxii |
|
Reduced bone mineral density, Multiple prenatal fractures, Slender long bone, Recurrent fractures... |
OMIM:619795 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Reduced bone mineral density, Genu varum, Delayed ossification of carpal bones, Irregular acetabu... |
OMIM:617974 |
Osteoarthritis With Mild Chondrodysplasia |
|
Knee osteoarthritis, Joint stiffness, Irregular vertebral endplates, Schmorl's node, Platyspondyl... |
OMIM:604864 |
Ollier Disease |
|
Osteolysis, Abnormal metaphysis morphology, Joint stiffness, Anemia, Micromelia |
ORPHA:296 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Dense metaphyseal bands, Failure to thrive, Clavicular sclerosis,... |
OMIM:615198 |
Osteopenia And Sparse Hair |
|
Joint laxity, Osteopenia |
OMIM:259690 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul... |
OMIM:600081 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... |
OMIM:607078 |
Van Buchem Disease |
|
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis |
OMIM:239100 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures, ... |
OMIM:166740 |
Ramon Syndrome |
|
Osteolysis, Failure to thrive |
ORPHA:3019 |
Tenosynovial Giant Cell Tumor |
|
Osteolysis, Joint stiffness, Localized osteoporosis, Abnormality of the knee, Abnormal hip joint ... |
ORPHA:66627 |
Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Li... |
ORPHA:93405 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Vertebral wedging, Monke... |
OMIM:617719 |
Pseudoachondroplasia |
|
Scoliosis, Generalized joint laxity, Wind-swept deformity of the knees, Increased laxity of ankle... |
ORPHA:750 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Bowing of the long bones, Abnormality of the glenoid fossa, De... |
ORPHA:2097 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteolysis, Hypophosphatemia, Abnormal metaphysis morphology, Genu varum, Scoliosis, Abnormal hip... |
ORPHA:93160 |
Paget Disease Of Bone 2, Early-Onset |
|
Osteolysis, Osteosclerosis of the ulna, Sandwich appearance of vertebral bodies, Vertebral compre... |
OMIM:602080 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Craniofacial osteosclerosis, Osteolysis, Scoliosis, Abnormal metaphysis morphology, Anemia, Hyper... |
ORPHA:324964 |
Keratoderma Hereditarium Mutilans |
|
Honeycomb palmoplantar hyperkeratosis, Osteolysis |
ORPHA:494 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Ck Syndrome |
|
Slender build, Abnormal cortical bone morphology, Abnormal digit morphology, Micrognathia, Joint ... |
OMIM:300831 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Renal in... |
OMIM:615996 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossificati... |
OMIM:300554 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Spinal rigidity, Small epiphyses, Cervical instability, Laryngotracheomalacia, Short n... |
ORPHA:94068 |
Pierson Syndrome |
|
Death in childhood, Rieger anomaly, Proteinuria, Retinal vascular tortuosity, Edema, Hypertension... |
OMIM:609049 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Generalized joint laxity, Joint stiffness, Avascular necrosis of the capita... |
OMIM:132400 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Small for gestational age, Slender build, Dense metaphyseal bands, Osteopenia, Failure to thrive,... |
ORPHA:50811 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Scoliosis, Short tibia, Small finger, Micromelia, Flared iliac wi... |
OMIM:607778 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Dermatoosteolysis, Kirghizian Type |
|
Osteolysis, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Osteoarthritis, Abnorm... |
ORPHA:1657 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Small for gestational age, Delayed ossification of carpal bones, Sh... |
OMIM:618392 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Micrognathia,... |
ORPHA:1486 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Holzgreve Syndrome |
|
Hypoplastic left heart, Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Genu varum, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bone ossificatio... |
ORPHA:1952 |
Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... |
OMIM:200700 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Narrow greater sciatic notch, Metaphyseal sclerosis, Ovoid vertebral bodies, Metaphyseal widening... |
OMIM:609052 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Osebold-Remondini Syndrome |
|
Type A brachydactyly, Decreased finger mobility, Abnormality of the vertebral column, Hypoplasia ... |
OMIM:112910 |
Osteopetrosis, Autosomal Recessive 6 |
|
Erlenmeyer flask deformity of the femurs, Osteopetrosis, Dense metaphyseal bands, Cortical sclero... |
OMIM:611497 |
Proteus Syndrome |
|
Calvarial hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Mandibular hyperostosi... |
OMIM:176920 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... |
ORPHA:1972 |
Classic Hodgkin Lymphoma |
|
Osteolysis, Splenomegaly, Weight loss |
ORPHA:391 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Bulging epiphyses, Hypophosphatemic rickets, Delayed epiphyseal ossification, Femoral bo... |
OMIM:241530 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Morning glory anomaly, Microphthalmia, Chorioretinal coloboma, Growth delay,... |
OMIM:120200 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Irregular vertebral endplates, Platyspondyly,... |
OMIM:609223 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis, Thickened cortex of long bon... |
OMIM:607634 |
Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Abnormal metatarsal morphology, Scoliosis, Abnormal carpal morphology... |
OMIM:127300 |
Winchester Syndrome |
|
Generalized osteoporosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Hutchinson-Gilford Progeria Syndrome |
|
Generalized osteoporosis, Osteolysis, Micrognathia |
OMIM:176670 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of talus, Synov... |
OMIM:609655 |
Bresek Syndrome |
|
Decreased testicular size, Cryptorchidism, Iris coloboma, Hypoplasia of the bladder, Intrauterine... |
ORPHA:85284 |
Osteogenesis Imperfecta, Type Xviii |
|
Generalized osteoporosis, Femoral bowing, Joint laxity, Recurrent fractures, Micrognathia, Thin b... |
OMIM:617952 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of talus, Synov... |
ORPHA:50809 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Joint stiffness, Genu recurvatum, Abnormal metacarpal morpho... |
ORPHA:137834 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Polycystic kidney dysplasia, Enlarged kidney, Occipital encephalocele, Microphthal... |
OMIM:613885 |
Joubert Syndrome 22 |
|
Intrauterine growth retardation, Microphthalmia, Retinal dysplasia, Renal hypoplasia, Coloboma |
OMIM:615665 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Hypertension, Short stature, Renal hypoplasia |
OMIM:618681 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Osteolysis, Leukocytosis, Pathologic fracture, Anemia, Leukemia, Osteoporosis... |
ORPHA:98850 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteolysis, Abscess, Failure to thrive in infancy, Fused cervical vertebrae, Osteopenia, Periosti... |
OMIM:612852 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Abnormal diaphysis morphology, Coxa valga, Osteopenia, Broad femo... |
ORPHA:85184 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu... |
ORPHA:83451 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly |
ORPHA:93304 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Scoliosis, Vertebral wedging, Irregular acetabular roof, Abnormal shoulder morphology, Irregulari... |
ORPHA:1159 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Renal cyst, Myopathy, Polyhydramnios, Renal insufficiency, Cardiomyopathy, De... |
OMIM:614922 |
Infantile Myofibromatosis |
|
Bone cyst, Osteolysis, Abnormal metaphysis morphology, Limitation of joint mobility |
ORPHA:2591 |
Desmoid Tumor |
|
Osteolysis, Limitation of joint mobility |
ORPHA:873 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Microm... |
ORPHA:2098 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... |
OMIM:614377 |
Dent Disease 1 |
|
Rickets, Bulging epiphyses, Osteomalacia, Delayed epiphyseal ossification, Femoral bowing, Sparse... |
OMIM:300009 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteomyelitis, ... |
OMIM:166260 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul... |
OMIM:264700 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies, Kypho... |
OMIM:616583 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Osteolysis, Abnormal long bone morphology, Pathologic fracture, Abnormali... |
ORPHA:52430 |
Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul... |
OMIM:277440 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteoarthritis of the elbow, Knee osteoarthritis, Stiff shoulders, Osteopenia, Platyspondyly, Bra... |
ORPHA:2619 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism, Intrauterine growth retardation |
OMIM:617564 |
Metatropic Dysplasia |
|
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... |
OMIM:156530 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... |
ORPHA:240 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Failure to thrive, Ecto... |
ORPHA:2485 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... |
OMIM:201250 |
Brachyolmia Type 1, Toledo Type |
|
Irregular vertebral endplates, Short neck, Short femoral neck, Back pain, Squared-off platyspondy... |
OMIM:271630 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Hip dislocation, Abnormal cortical bon... |
ORPHA:2484 |
Osteogenesis Imperfecta, Type Xiv |
|
Femoral bowing, Increased susceptibility to fractures, Osteopenia, Recurrent fractures |
OMIM:615066 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Alagille Syndrome 2 |
|
Proteinuria, Cholestatic liver disease, Pulmonic stenosis, Renal cyst, Atrial septal defect, Tetr... |
OMIM:610205 |
Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Butterfly vertebrae,... |
OMIM:620076 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Hypoplastic left heart, Chronic kidney disease, Rhizomelia, Unilateral renal agenesis, Short stat... |
OMIM:617661 |
Papillorenal Syndrome |
|
Horseshoe kidney, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Edema, Macul... |
OMIM:120330 |
Gamma-Heavy Chain Disease |
|
Osteolysis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte... |
ORPHA:100026 |
Greenberg Dysplasia |
|
Abnormal form of the vertebral bodies, Rhizomelia, Micromelia, Platyspondyly, Anterior rib puncta... |
ORPHA:1426 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal metaphysis morphology, Flattened epiphysis, Broad femoral neck, Osteopenia, Tapered fing... |
ORPHA:157965 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Fractured radius, Decreased fibular diameter, Limb undergrowth, Short ... |
OMIM:616897 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement |
ORPHA:163665 |
Felty Syndrome |
|
Osteolysis, Anemia, Abnormal lymphocyte morphology, Arthritis, Thrombocytopenia, Limitation of jo... |
ORPHA:47612 |
Slc35A2-Cdg |
|
Craniosynostosis, Camptodactyly of finger, Scoliosis, Abnormal long bone morphology, Failure to t... |
ORPHA:356961 |
Maffucci Syndrome |
|
Osteolysis, Recurrent fractures |
ORPHA:163634 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Flared femoral metaphysis, Flat distal femoral epiphysis, Broad femoral neck, Platyspondyly, Shor... |
OMIM:609324 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Microphthalmia, Ketonuria, Oligohydramnios, Hypertrophic cardiomyopathy, Renal hypo... |
OMIM:619053 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar aplasia, Wide capital femoral epiphyses, Patellar hypoplasia, Patellar dislocation, Shor... |
OMIM:147891 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Hydranencephaly, Neonatal death, Renal dysplasia, Stillbirth, Oligohydramnios, Arthro... |
OMIM:236500 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
Hypophosphatemic Bone Disease |
|
Rickets, Bowing of the legs, Osteomalacia |
OMIM:146350 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p... |
ORPHA:93314 |
Fibrous Dysplasia Of Bone |
|
Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Ab... |
ORPHA:249 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Lumbar hyperlordosis, Hip dysplasia, Abnormality of the knee, Abnormality of the vertebral column... |
ORPHA:99642 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Flared... |
OMIM:156510 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Camptodactyly of finger, Joint stiffness, Genu varum, Decreased cervical spin... |
OMIM:208230 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Acute pancreatitis, Lower limb hypertonia, Recurrent urinary tract infections, Hepa... |
OMIM:619487 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Multilobu... |
OMIM:601186 |
Hypercholanemia, Familial 1 |
|
Rickets, Failure to thrive |
OMIM:607748 |
Osteogenesis Imperfecta, Type X |
|
Generalized joint laxity, Bowing of the long bones, Rhizomelia, Osteopenia, Micromelia, Short fem... |
OMIM:613848 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Abnormal metaphysis morphology, Osteoporosis, Short metatarsal, Short metacarpal, Syn... |
ORPHA:93351 |
Hadziselimovic Syndrome |
|
Pulmonary artery atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, S... |
OMIM:612946 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Genu varum, Irregular, rachitic-like metaphyses, Osteomalacia, Failure to thrive, Delaye... |
ORPHA:289157 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Slender build, Slender long bones with narrow diaphyses, Metaphyseal s... |
OMIM:608154 |
Verheij Syndrome |
|
Renal cyst, Ventricular septal defect, Intrauterine growth retardation, Short stature, Optic nerv... |
OMIM:615583 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteolysis, Osteoporosis, Osteolysis involving bones of the lower limbs, Broad metacarpals, Carpa... |
ORPHA:371428 |
Atelosteogenesis Type I |
|
Scoliosis, Abnormality of fibula morphology, Absent or minimally ossified vertebral bodies, Limb ... |
ORPHA:1190 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Renal tubular atrophy, Chronic kidney disease, Focal segmental glomerulosclerosis, T... |
OMIM:613092 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Ovoi... |
ORPHA:1856 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared i... |
OMIM:112350 |
Pachydermoperiostosis |
|
Osteolysis, Abnormal cortical bone morphology, Genu varum, Anemia, Osteoporosis, Arthritis, Abnor... |
ORPHA:2796 |
Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femo... |
OMIM:249700 |
Isolated Osteopoikilosis |
|
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Abnormal lo... |
ORPHA:166119 |
Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphology, Hip dysplasia, Micrognat... |
ORPHA:1988 |
Duchenne And Becker Muscular Dystrophy |
|
Reduced bone mineral density, Scoliosis, Joint stiffness, Elevated circulating creatine kinase co... |
ORPHA:262 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Distal femoral bowi... |
ORPHA:289176 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Atrial septal defect, Chole... |
OMIM:208540 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Ventricular septal defect, Ectopic kidney, Death in infancy, Optic disc pallor, M... |
OMIM:613730 |
Pseudoachondroplasia |
|
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... |
OMIM:177170 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Edema, Hepatomegaly, Pericardial effusion, Abnor... |
OMIM:608776 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Scoliosis, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee fl... |
ORPHA:166016 |
Spondyloepiphyseal Dysplasia Tarda |
|
Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Flattened femoral head, Hu... |
ORPHA:93284 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Abnormality of the lower limb, Hypophosphatemic rickets, Osteomalacia |
OMIM:193100 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Short distal phalanx of finger, Scoliosis, Irregular acetabular roo... |
OMIM:156500 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Increased nuchal translucency, Hydronephrosis, Cryptorchidism, Coarctation of aorta, Ventricular ... |
OMIM:618494 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long hallux, Arachnodactyly, ... |
OMIM:615923 |
Hypophosphatasia, Adult |
|
Rickets, Pathologic fracture, Osteomalacia, Abnormal foot morphology, Increased susceptibility to... |
OMIM:146300 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... |
OMIM:616217 |
Monosomy 5P |
|
Abnormality of bone mineral density, Finger syndactyly, Microretrognathia, Joint hyperflexibility... |
ORPHA:281 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Leukopenia, Pathologic fracture, Anemia, Osteoarthrit... |
ORPHA:77259 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Miscarriage, Abnormality of the kidney, Arrhythmia, Polyhydramnios, Ca... |
ORPHA:1041 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Reduced bone mineral density, Abnormality of limb bone morphology, Interphalangeal joint erosions... |
ORPHA:85435 |
Coxoauricular Syndrome |
|
Reduced bone mineral density, Hip dislocation, Micromelia, Abnormality of femur morphology, Abnor... |
ORPHA:1508 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis |
OMIM:122860 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Small thenar eminence, Pulmonic stenosis, Joint contracture of the 5th finger, Umb... |
OMIM:618914 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Narrow greater sciatic notch, Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Fla... |
OMIM:609616 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Severe short stature, Atrial septal defect, Patent foramen ov... |
OMIM:616854 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Finger syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Oligomeganephronia |
|
Secundum atrial septal defect, Proteinuria, Renal tubular atrophy, Dehydration, Stage 5 chronic k... |
ORPHA:2260 |
Cat-Eye Syndrome |
|
Hydronephrosis, Iris coloboma, Renal hypoplasia/aplasia, Intrauterine growth retardation, Microph... |
ORPHA:195 |
Short Rib-Polydactyly Syndrome |
|
Abnormal long bone morphology, Absent or minimally ossified vertebral bodies, Polydactyly, Short ... |
ORPHA:1505 |
Achondroplasia |
|
Generalized joint laxity, Rhizomelia, Radial bowing, Bowing of the legs, Brachydactyly, Severe pl... |
OMIM:100800 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Short Stature, Dauber-Argente Type |
|
Reduced bone mineral density, Decreased fibular diameter, Osteopenia, Long fingers, Long toe, Ara... |
OMIM:619489 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Palmoplantar keratoderma, Osteolysis, Ankylosis, Palmoplantar hyperhidrosis |
ORPHA:659 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Ventricular septal defect, Polyhydramnios, Abnormality of mesentery morphology, H... |
ORPHA:2256 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Hip dysplasia, Osteoarthritis, Flattened femoral h... |
ORPHA:166011 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Limb undergrowth, Hypoplastic vertebral bodies, Coxa valga, Sea-blue histiocytos... |
OMIM:230600 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Pes cavus, Interphalangeal joint contracture of finger, Thin bony cortex, Broad metatarsal, Campt... |
OMIM:259600 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Enlarged kidney, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:261740 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal... |
ORPHA:231736 |
Osteogenesis Imperfecta, Type V |
|
Limited pronation/supination of forearm, Hyperextensibility at elbow, Vertebral wedging, Osteopen... |
OMIM:610967 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Renal dysplasia, Optic nerve dysplasia, Optic disc coloboma, Vesicoureteral ... |
ORPHA:1475 |
Bruck Syndrome 1 |
|
Scoliosis, Osteoporosis, Knee flexion contracture, Vertebral wedging, Kyphosis, Platyspondyly, Pr... |
OMIM:259450 |
Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... |
ORPHA:210110 |
Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... |
ORPHA:93322 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Shortening of the talar neck, Osteoarthritis, Hypophosphatemic rickets, Osteomalacia, Tr... |
OMIM:307800 |
Cach Syndrome |
|
Hepatosplenomegaly, Optic neuritis, Arthrogryposis multiplex congenita, Pancreatitis, Intrauterin... |
ORPHA:135 |
Atelosteogenesis Type Ii |
|
Increased femoral anteversion, Rhizomelia, Micromelia, Hypoplastic cervical vertebrae, Short phal... |
ORPHA:56304 |
Senior-Boichis Syndrome |
|
Cholestasis, Renal corticomedullary cysts, Abnormal renal insterstitial morphology, Carotid arter... |
ORPHA:84081 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Death in adolescence, Left ventricular hypertrophy, Le... |
OMIM:612158 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short distal phalanx of finger, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteolytic... |
ORPHA:90154 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Abnormality of bone mineral density, Synostosis of carpal bones, Mesomel... |
ORPHA:2741 |
Ivic Syndrome |
|
Short 1st metacarpal, Scoliosis, Leukocytosis, Absent thumb, Short thumb, Preaxial polydactyly, S... |
OMIM:147750 |
Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Int... |
OMIM:609053 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Truncu... |
OMIM:616589 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophi... |
OMIM:614702 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Lower-limb metaphyseal irregularity, Scoliosis, Genu varum, Irregular femoral epiphysis, Platyspo... |
OMIM:618728 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Joint stiffness, B... |
ORPHA:1860 |
Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Cryptorchidism, Glycosuria, Chronic kidney disease, Beta 2-mi... |
ORPHA:97362 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Platyspondyly |
OMIM:271600 |
Desbuquois Dysplasia 1 |
|
Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me... |
OMIM:251450 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Club-shaped proximal femur, Scoliosis, Hypoplasia of the odontoid process, Hyperlordo... |
OMIM:184250 |
Stuve-Wiedemann Syndrome 1 |
|
Scoliosis, Clubbing, Pathologic fracture, Absent patellar reflexes, Contracture of the proximal i... |
OMIM:601559 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Atrial septal defect, Renal cyst, Bile duct proliferati... |
OMIM:611134 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Death in childhood, Camptodactyly, Hepatomegaly, Aminoaciduria, Lacticaciduria, Flexion contractu... |
OMIM:604273 |
Chondroectodermal Dysplasia With Night Blindness |
|
Abnormal patella morphology, Epiphyseal dysplasia, Abnormality of the knee, Osteoporosis, Equinov... |
ORPHA:319195 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia, Tricuspid regurgitation |
OMIM:600151 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteolytic... |
ORPHA:90153 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Intrauterine growth retardation, Mi... |
ORPHA:2470 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Pericardial effusion, Micropenis |
OMIM:614684 |
Nestor-Guillermo Progeria Syndrome |
|
Osteolysis, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phalanges of ... |
OMIM:614008 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Metaphyseal cupping, Osteopenia, Flared metaphysis, Bowing of the legs |
OMIM:619073 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Narrow greater sciatic notch, Scoliosis, Dumbbell-shaped femur, Irregular, rachitic-like metaphys... |
OMIM:184252 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Short finger, Thoracolumbar scoliosis, Knee flexion contracture, Kyphosis, Tapered finger, Platys... |
OMIM:313420 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Hepatosplenomegaly, Multiple glomerular cysts, Biliary cirrhosis, Stage 5... |
OMIM:267010 |
Atelosteogenesis, Type I |
|
Clubbing, Rhizomelia, Short metatarsal, Knee dislocation, Fibular aplasia, Multinucleated giant c... |
OMIM:108720 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614376 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Scoliosis, Metaphyseal irregularity, Squared-off platyspondyly, Bowing of the legs, Generalized b... |
ORPHA:93352 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Scoliosis, Micromelia, Metaphyseal irregularity, Coxa vara, Central vertebral hypoplasia, Short n... |
OMIM:602557 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Scoliosis, Hip dislocation, Short neck, Irregular vertebral endplates, Delayed ossification of ca... |
OMIM:618395 |
Hypocomplementemic Urticarial Vasculitis |
|
Proteinuria, Glomerulopathy, Small vessel vasculitis, Angioedema, Renal insufficiency, Abnormal h... |
ORPHA:36412 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Femoral bowing, Osteoporosis, Osteopenia, Recurrent fractures |
OMIM:126550 |
Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Osteolysis, Narrow foramen obturatorium, Arthritis |
ORPHA:220393 |
Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Cholestasis, Acholic stools, Bile duct proliferation, Hepatic bridgi... |
OMIM:617394 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
Orofaciodigital Syndrome Xvii |
|
Short stature, Micropenis, Renal hypoplasia, Tetralogy of Fallot |
OMIM:617926 |
Odontochondrodysplasia 1 |
|
Scoliosis, Metaphyseal cupping, Irregular epiphyses, Micromelia, Flared iliac wing, Biconvex vert... |
OMIM:184260 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... |
OMIM:612447 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Short distal phalanx of finger, Short thumb, Proximal placement o... |
ORPHA:90650 |
Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... |
ORPHA:2756 |
Distal Duplication 6P |
|
Hydronephrosis, Intrauterine growth retardation, Short stature, Aplasia/Hypoplasia affecting the ... |
ORPHA:1745 |
Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta |
OMIM:184300 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Atrial septal defect, Ventricular septal defect, Pulmonary... |
ORPHA:75389 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Intrauterine growth retardation, Short stature, Optic nerve hypoplasia, Microp... |
OMIM:617914 |
Hyperparathyroidism, Transient Neonatal |
|
Metaphyseal spurs, Short ribs, Osteopenia, Short femur, Short long bone, Fractured rib, Recurrent... |
OMIM:618188 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Osteolytic defects of the phalan... |
OMIM:228000 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Osteopenia, Increased susceptibility to fractures, Talipes equinovarus,... |
OMIM:609220 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Abnormal humerus morphology, Abnormal sacrum morphology, Osteolysis, Abnormal... |
ORPHA:464329 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia, Growth delay, Uraciluria, Coloboma |
OMIM:274270 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Micropenis, Umbilical hernia, Patent ductus arteriosus, Renal agenesis, Renal hyp... |
ORPHA:171839 |
Gombo Syndrome |
|
Delayed puberty, Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Hall-Riggs Mental Retardation Syndrome |
|
Scoliosis, Irregular vertebral endplates, Osteoporosis, Kyphosis, Failure to thrive, Platyspondyl... |
OMIM:234250 |
Immunodeficiency 76 |
|
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Pathologic fracture, Abnormal ilium morphology, Abnormal humeral dia... |
ORPHA:83468 |
Split-Hand/Foot Malformation 3 |
|
Camptodactyly, Renal hypoplasia |
OMIM:246560 |
Chromomycosis |
|
Abnormality of the lower limb, Osteolysis, Ankylosis, Abnormal foot morphology |
ORPHA:182 |
Pelviscapular Dysplasia |
|
Hypoplastic ilia, Congenital hip dislocation, Short neck, Hypoplastic scapulae, Short femur, Meso... |
ORPHA:93333 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Alpha-aminoadipic aciduria, Cardiomyopathy, Skeletal muscle atrophy, Optic atrophy, Elevated urin... |
OMIM:620089 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Hypomimic face, Ventricular septal defect, Unilateral renal agenesis, Short... |
OMIM:608572 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Death in childhood, Encephalocele, Muscular dystrophy, Retinal detachment, Death in infancy, Micr... |
OMIM:614643 |
Occipital Horn Syndrome |
|
Rickets, Scoliosis, Hip dislocation, Hip dysplasia, Osteomalacia, Humerus varus, Coxa vara, Brach... |
ORPHA:198 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... |
OMIM:619167 |
Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Limb hypertonia, Renal insufficiency, Hypertension, Intrauterine gr... |
OMIM:617595 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Failure to thrive |
OMIM:602722 |
Sapho Syndrome |
|
Craniofacial osteosclerosis, Osteolysis, Enthesitis, Hyperostosis, Arthritis, Abnormal sacroiliac... |
ORPHA:793 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small for gestational age, Decreased circulating total IgM, Butterfly vertebrae, S... |
OMIM:607143 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Limb hypertonia, Polyhydramnios, Urinary incontinence, Aortic aneurysm, Dea... |
OMIM:620070 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Osteolysis, Liver abscess, Palmoplantar keratoderma, Arach... |
ORPHA:678 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Oligodactyly, Forearm undergrowth, Absent radius, Short neck, Missing ribs, Sho... |
OMIM:251230 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Scoliosis, Hip dislocation, Generalized joint laxity, Metaphyseal irregularity, Kyphoscoliosis, F... |
ORPHA:93360 |
Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Microphthalmia, Bup... |
ORPHA:91495 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Osteoporosis, Kyphosis |
ORPHA:2786 |
Osteogenesis Imperfecta, Type Xxi |
|
Scoliosis, Osteoporosis, Coxa valga, Pes valgus, Platyspondyly, Recurrent fractures, Pes planus, ... |
OMIM:619131 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Decreased body weight, Abnormal cortical bone morphology |
OMIM:614886 |
Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Hip dislocation, Absent radius, Abnormal cervical curvature, Laryngot... |
ORPHA:56305 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia, Abnormal heart morphology |
OMIM:276950 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Atrial septal defect, Hypoplastic aortic arch, Phthisis bulbi, Mitral ... |
OMIM:300166 |
Atelis Syndrome 2 |
|
Pulmonic stenosis, Supravalvar pulmonary stenosis, Microphthalmia, Elevated circulating thyroid-s... |
OMIM:620185 |
Boomerang Dysplasia |
|
Abnormality of the humerus, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Poorly... |
ORPHA:1263 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Lumbar hyperlordosis, Short metatarsal, Capitate-hamate fusion, Short me... |
OMIM:271650 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Torticollis, Cryptorchidism, Micropenis, Pulmonic stenosis, V... |
OMIM:609029 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Ventricular septal defect, Atrial septal defect, Persistent fetal circulation, Pulmonary ... |
ORPHA:363705 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Rickets, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume... |
OMIM:611590 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short finger, Scoliosis, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphy... |
OMIM:608940 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Pseudohypoparathyroidism, Vesicoureteral reflux, Renal hypoplasia, Coloboma |
ORPHA:464288 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Cervical instability, Laryngotracheomalacia, Delayed ossification of carpal bones, Platyspondyly,... |
ORPHA:93346 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Irregular vertebral endplates, Flattened epiphysis, Dislocated radial he... |
OMIM:612350 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in childhood, Nonimmune hydrops fetalis, Proteinuria, Edema, Renal cyst, Cardiomyopathy, He... |
OMIM:212065 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Absen... |
ORPHA:3206 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Micromelia, Sh... |
ORPHA:440354 |
Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... |
OMIM:211350 |
Marden-Walker Syndrome |
|
Camptodactyly, Dextrocardia, Cryptorchidism, Micropenis, Decreased muscle mass, Intrauterine grow... |
OMIM:248700 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Cryptorchidism, Decreased numbers of nephrons,... |
OMIM:617641 |
Duane-Radial Ray Syndrome |
|
Hydronephrosis, Small thenar eminence, Iris coloboma, Optic disc hypoplasia, Ventricular septal d... |
OMIM:607323 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Tooth abscess, Iron deficiency anemia, Bowing of the legs |
ORPHA:89937 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Delayed puberty, Cryptorchidism, Intrauterine growth retardation, Short stature, Growth delay, Pr... |
OMIM:616817 |
Smith-Mccort Dysplasia 1 |
|
Scoliosis, Genu varum, Short neck, Multicentric femoral head ossification, Hypoplastic scapulae, ... |
OMIM:607326 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardi... |
ORPHA:2414 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Limb undergrowth, Metaphyseal widening, Short ribs, Lumbar platyspondyly, Increased intervertebra... |
OMIM:618961 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis |
ORPHA:93283 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cyclopia, Dextrocardia, Cryptorchidism, Micropenis, Coarctation of aorta, Ventricu... |
OMIM:264480 |
Dysspondyloenchondromatosis |
|
Scoliosis, Abnormality of fibula morphology, Generalized joint laxity, Osteoarthritis, Anisospond... |
ORPHA:85198 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Renal cyst, Meningocele, Bile duct proliferation, Intrauterine growth retardation,... |
OMIM:603194 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Contracture of the proximal in... |
OMIM:609813 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Pear-s... |
OMIM:602111 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing |
OMIM:246570 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Vesicoureteral reflux, Microphallus, Atrial septal defect, Polyhydramnios, Intrau... |
OMIM:603467 |
Bruck Syndrome |
|
Scoliosis, Joint stiffness, Osteoporosis, Kyphosis, Platyspondyly, Recurrent fractures, Arthrogry... |
ORPHA:2771 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Missing ribs, Bifid femur, Aplasia/hypoplasia of the femur, Ap... |
ORPHA:2769 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
Axial Spondylometaphyseal Dysplasia |
|
Scoliosis, Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic s... |
ORPHA:168549 |
Dent Disease |
|
Rickets, Enlarged epiphyses, Bulging epiphyses, Abnormality of the lower limb, Osteomalacia, Dela... |
ORPHA:1652 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Short neck, Cervical subluxation, Arthritis,... |
OMIM:184100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... |
OMIM:174000 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, Overlapping toe, Wide anterior fontanel, Short tibia, Micrognathia, 11 pairs of rib... |
OMIM:201170 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia, Hyperostosis cra... |
OMIM:231095 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Scoliosis, Multiple prenatal fractures, Kyphosis, Bowing of limbs due to multi... |
OMIM:259440 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility |
ORPHA:168555 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Pulmonary lymphangiectasia, In... |
OMIM:235510 |
Schwartz-Jampel Syndrome, Type 1 |
|
Scoliosis, Anterior bowing of long bones, Elevated circulating creatine kinase concentration, Mic... |
OMIM:255800 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Pear-shaped vertebrae, M... |
ORPHA:93356 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... |
OMIM:605274 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Cryptorchidism, Anasarca, Polyhydramnios, Death in infancy, Renal dysplasia, Elevat... |
OMIM:618183 |
Senior-Loken Syndrome |
|
Cone-shaped epiphysis, Abnormality of bone mineral density |
ORPHA:3156 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... |
OMIM:619924 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Thoracic kyphosis, Short neck, Ovoid vertebral bodies, Flattened ... |
ORPHA:163649 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Proteinuria, Pleural effusion, Edema, Renal insufficiency, Nephrotic syndrome... |
ORPHA:93552 |
Cenani-Lenz Syndactyly Syndrome |
|
Ectopic kidney, Pulmonic stenosis, Renal agenesis, Renal hypoplasia |
OMIM:212780 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Andersen-Tawil Syndrome |
|
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Abnormal T-wave, Tor... |
ORPHA:37553 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Pes cavus, Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial me... |
ORPHA:457395 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Rhizomelia, Short metatar... |
ORPHA:93307 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short distal phalanx of finger, Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Metaphys... |
ORPHA:93315 |
Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Iris coloboma, Chorioretinal coloboma, Hematuria, Microphthalmia |
OMIM:120433 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteolysis, Abnormal metaphysis morphology, Anemia, Abnormal epip... |
ORPHA:35687 |
Meckel Syndrome, Type 5 |
|
Renal cyst, Bile duct proliferation, Occipital encephalocele, Microphthalmia, Anencephaly |
OMIM:611561 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis, Cone-shaped epiphysis |
ORPHA:71267 |
Meckel Syndrome 12 |
|
Arrhinencephaly, Intrauterine growth retardation, Oligohydramnios, Bilateral renal agenesis, Arth... |
OMIM:616258 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Pigmentary retinopathy, S... |
OMIM:252011 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... |
ORPHA:2064 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Rickets, Splenomegaly, Osteopenia, Failure to thrive |
OMIM:211600 |
Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericardial effusion, Pericarditis, Hematuria |
ORPHA:231111 |
Thalidomide Embryopathy |
|
Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Aplasia/hypo... |
ORPHA:3312 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Polyhydramnios, Renal dysplasia, Abnormal biliary tract mor... |
ORPHA:3032 |
H Syndrome |
|
Hepatosplenomegaly, Camptodactyly, Osteolysis, Hallux valgus, Microcytic anemia, Histiocytosis, R... |
ORPHA:168569 |
Mixed Connective Tissue Disease |
|
Osteolysis, Joint stiffness, Leukopenia, Hemolytic anemia, Arthritis, Splenomegaly |
ORPHA:809 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
Primary Effusion Lymphoma |
|
Pleural effusion, Abnormality of the peritoneum, Pericardial effusion |
ORPHA:48686 |
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Limited elbow extension, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Ulnar deviation of fin... |
ORPHA:93359 |
Mungan Syndrome |
|
Pulmonic stenosis, Perimembranous ventricular septal defect, Tricuspid regurgitation, Vesicourete... |
OMIM:611376 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping, Hypoplasia of the calcaneus, Rhizomelia, Platyspondyly, Decreased skull ossi... |
OMIM:300863 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Lumbar scoliosis, Kyphoscoliosis, Platyspondyly, Irregular vertebral endplates |
OMIM:612847 |
Endove Syndrome, Limb-Only Type |
|
3-4 finger syndactyly, Triangular tibia, Disproportionate shortening of the tibia, Short middle p... |
OMIM:619217 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Knee osteoarthritis, Camptodactyly of toe, Camptodactyly of finger, ... |
ORPHA:2848 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Reti... |
OMIM:610688 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Proximal placement of thumb, Short neck, Rhizomelia, Abnormal epi... |
ORPHA:93267 |
Emanuel Syndrome |
|
Cryptorchidism, Micropenis, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, U... |
ORPHA:96170 |
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... |
ORPHA:137902 |
Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Scoliosis, Wide anterior fontanel, Short metacarpal, Multiple prenatal fractures, ... |
OMIM:610915 |
Hardikar Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hydroureter, Pigmentary retinopathy, Cholestasis... |
OMIM:301068 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Dilation of Virchow-Robin spaces, Vesicoureteral reflux, Optic disc ... |
OMIM:619955 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Umbilical herni... |
OMIM:619758 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Limited elbow extension, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphy... |
OMIM:608728 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Hypoplastic left heart, Atrial septal defect, Short stature, Aortic valve sten... |
OMIM:617660 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Pathologic fracture, Anemia, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Cryptorchidism, Umbilical hernia, Renal insufficiency, Short stature, Hypoplasia of penis, Renal ... |
ORPHA:85321 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Reduced bone mineral density, Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Bowing... |
ORPHA:157215 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Rickets, Hip dislocation, Joint stiffness, Hip dysplasia, Avascular necrosis of the capital femor... |
ORPHA:1901 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent left superior vena cava, Ventricular septal defect, Papilledema, Intrauterine growth r... |
OMIM:618775 |
Fanconi Anemia, Complementation Group W |
|
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Polysplen... |
OMIM:617784 |
Biemond Syndrome Type 2 |
|
Delayed puberty, Short stature, Microphthalmia, Hypospadias, Coloboma |
ORPHA:141333 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Iris coloboma, Microphthalmia, Buphthalmos, Phthisis bulbi, Retinal nonattachment, Hyphema, Remna... |
OMIM:221900 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Occipital encephalocele, Multicystic kid... |
OMIM:607361 |
Osteopetrosis, Autosomal Dominant 2 |
|
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... |
OMIM:166600 |
Microphthalmia With Limb Anomalies |
|
Hip dislocation, Abnormal form of the vertebral bodies, Short tibia, Toe syndactyly, Broad thumb,... |
ORPHA:1106 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... |
OMIM:223800 |
Hajdu-Cheney Syndrome |
|
Short distal phalanx of finger, Scoliosis, Partial absence of toe, Patellar dislocation, Short to... |
ORPHA:955 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Scoliosis, Amelia |
OMIM:601357 |
Kniest Dysplasia |
|
Tracheomalacia, Lumbar kyphoscoliosis, Hip dislocation, Dumbbell-shaped femur, Genu varum, Short ... |
OMIM:156550 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
Cockayne Syndrome Type 3 |
|
Stroke, Vascular calcification, Urinary retention, Retinal atrophy, Hydroureter, Cardiomyopathy, ... |
ORPHA:90324 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Hip dislocation, Ivory epiphyses of the toes, Irregular vertebral endplates... |
OMIM:226980 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Reduced bone mineral density, Scoliosis, Osteoporosis, Dislocated... |
OMIM:614856 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Short stature, Microphthalmia |
OMIM:257910 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Cryptorchidism, Spina bifida, Renal transitional cell carcinoma, Arrhythmia, ... |
ORPHA:2874 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Craniosynostosis, Limited elbow extension, Scoliosis, Narrow pelvis bone, Short neck, Overlapping... |
OMIM:616723 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar interpedicular narrowing, Rhizomelia, Metaphyseal irregularity, Kyphoscoliosis, Small epip... |
OMIM:271510 |
X-Linked Hypophosphatemia |
|
Rickets, Abnormal lower-limb metaphysis morphology, Flared iliac wing, Bowing of the legs, Upper ... |
ORPHA:89936 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormal long bone morphology, Osteoarthritis, Short phalanx of finger, Brachydactyly, Tibial bow... |
ORPHA:1427 |
Geroderma Osteodysplastica |
|
Scoliosis, Hip dislocation, Osteoporosis, Abnormal epiphysis morphology, Vertebral compression fr... |
ORPHA:2078 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Horseshoe kidney, Short stature, Unilateral microphthalmos, Bicuspid ao... |
OMIM:619318 |
Pallister-Hall Syndrome |
|
Preductal coarctation of the aorta, Hydronephrosis, Thyroid dysgenesis, Cryptorchidism, Decreased... |
OMIM:146510 |
Alagille Syndrome 1 |
|
Stroke, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pigmentary retinopa... |
OMIM:118450 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis |
ORPHA:85174 |
Cantu Syndrome |
|
Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Pe... |
OMIM:239850 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hydrops fetalis, Renal cyst, Hepatic fibrosis, Short stature, Ascite... |
OMIM:614091 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal dysplasia, Renal hypoplasia, Urethral obstruction, Hypertrophy of the urinary bladder |
OMIM:601389 |
Renal And Mullerian Duct Hypoplasia |
|
Severe postnatal growth retardation, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydr... |
OMIM:266810 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l... |
OMIM:271700 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Edema, Microphthalmia |
OMIM:616570 |
Smith-Mccort Dysplasia 2 |
|
Broad metatarsal, Limited elbow extension, Pes planus, Short neck, Flattened epiphysis, Short met... |
OMIM:615222 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Nephrocalcinosis, Hypermagnesiuria, Hyperprostaglandinuria, Hepatic calcification, Hypercalciuria... |
ORPHA:73224 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Intrauterine growth retardation, Short stature, Microphthalmia, Remnants of t... |
ORPHA:2714 |
Q Fever |
|
Myocarditis, Hepatosplenomegaly, Vasculitis, Endocarditis, Abnormality of the liver, Abnormal hea... |
ORPHA:781 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal metaphysis morphology, Irregu... |
ORPHA:1782 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Faciocardiomelic Syndrome |
|
Polydactyly, Slender long bone, Osteopenia, Micrognathia, Hypoplastic pelvis, Thin bony cortex, L... |
OMIM:612731 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... |
ORPHA:300751 |
Atelosteogenesis, Type Ii |
|
Scoliosis, Lumbar hyperlordosis, Dumbbell-shaped femur, Short greater sciatic notch, Limb undergr... |
OMIM:256050 |
12Q14 Microdeletion Syndrome |
|
Horseshoe kidney, Ectopic kidney, Skeletal muscle atrophy, Intrauterine growth retardation, Short... |
ORPHA:94063 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Cardiomyopathy, Intrauterine growth r... |
OMIM:619003 |
Chime Syndrome |
|
Osteolysis, Hip dislocation, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the phalanges o... |
ORPHA:3474 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... |
OMIM:612576 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Joint stiffness, Osteoporosis, Osteopenia, Osteomalacia, Micromelia, Fai... |
ORPHA:2176 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the uppe... |
ORPHA:464321 |
Anauxetic Dysplasia 1 |
|
Short finger, Limited elbow extension, Hypoplastic ilia, Lumbar hyperlordosis, Thoracic kyphosis,... |
OMIM:607095 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Hydroureter, Polyhydramnios, Abnormality of the bladder, Hypoplasia of p... |
ORPHA:2547 |
Osteogenesis Imperfecta, Type Xv |
|
Scoliosis, Bowing of limbs due to multiple fractures, Platyspondyly, Recurrent fractures, Joint h... |
OMIM:615220 |
Porphyria, Congenital Erythropoietic |
|
Osteolysis, Hemolytic anemia, Pathologic fracture, Osteopenia, Joint contracture of the hand, Thr... |
OMIM:263700 |
Osteogenesis Imperfecta, Type Xvi |
|
Small for gestational age, Rhizomelia, Mesomelia, Osteopenia, Vertebral compression fracture, Pla... |
OMIM:616229 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Rickets, Osteoporosis, Failure to thrive |
OMIM:560000 |
Khan-Khan-Katsanis Syndrome |
|
Hydronephrosis, Renal cyst, Pigmentary retinopathy, Intrauterine growth retardation, Short statur... |
OMIM:618460 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Growth delay, Recurrent urinary tract ... |
ORPHA:731 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Osteolysis involving bones of the lower limbs, Syndactyly, Osteolysis involving bo... |
ORPHA:88630 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Iris coloboma, Retinal detachment, Microphthalmia, Chorioretinal coloboma, Hematuria, Optic atrophy |
ORPHA:1473 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Microphthalmia |
OMIM:616335 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Anemia, Thrombocytopenia, Pancytopenia, Increased sus... |
ORPHA:77261 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Ventricular septal defect, Horseshoe kidney, Tetralogy of Fallot, Atrioventricular canal defect, ... |
ORPHA:508498 |
Trisomy 13 |
|
Hydronephrosis, Cryptorchidism, Iris coloboma, Hydrops fetalis, Abnormal retinal vascular morphol... |
ORPHA:3378 |
Alpha-Mannosidosis, Infantile Form |
|
Craniosynostosis, Hepatosplenomegaly, Osteolysis, Bilateral coxa valga, Bilateral talipes equinov... |
ORPHA:309282 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head, Osteopenia, Obesity |