Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Dense metaphyseal bands, Metaphyseal dysplasia, Clavicular sclerosis |
OMIM:615198 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Arthritis, Sclerosis of foo... |
ORPHA:564003 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... |
ORPHA:1802 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:166740 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... |
ORPHA:3416 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... |
ORPHA:53697 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... |
OMIM:611497 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Increased bone miner... |
ORPHA:166119 |
Mueller-Weiss Syndrome |
|
Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibial torsion, Sclerosis of f... |
ORPHA:566943 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... |
OMIM:231095 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Abnormality of l... |
ORPHA:2204 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... |
ORPHA:79106 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteopetrosis, Autosomal Dominant 1 |
|
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... |
OMIM:607634 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... |
ORPHA:3344 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Erlenmeyer fla... |
ORPHA:210110 |
Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Coxa vara, Abnormality of the epiphysis of the fe... |
ORPHA:2114 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... |
ORPHA:90650 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Progressive leg bowing, Short lower limbs, Hip dysplasia, Metaphyseal chondrodysplasi... |
ORPHA:2501 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis |
OMIM:174810 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, O... |
OMIM:611490 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... |
OMIM:114000 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Tapered finger, Abnormal cortical bone morphology, Osteolysis, Abnormal hip ... |
ORPHA:970 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... |
OMIM:166600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Short foot, Abnormal cortical bone morphology, Limitation of joint mobili... |
ORPHA:166277 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Irregular acetabular roof, ... |
OMIM:617974 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Arthritis, Abnormal metacarpal morpholog... |
ORPHA:53 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ... |
OMIM:166260 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Lethal Recessive Chondrodysplasia |
|
Flared elbow metaphyses, Generalized osteosclerosis, Short long bone |
ORPHA:1423 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Limited elbow extension, Metaphyseal dysplasia, Metaphyseal wideni... |
OMIM:265900 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
Osteogenesis Imperfecta, Type Xxii |
|
Thin bony cortex, Recurrent fractures, Pseudoarthrosis, Slender long bone, Multiple prenatal frac... |
OMIM:619795 |
Cranio-Osteoarthropathy |
|
Arthritis, Clubbing of toes, Abnormal cortical bone morphology, Abnormality of tibia morphology, ... |
ORPHA:1525 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Short femoral neck, Coxa vara, Decreased hip abduction, Flared iliac wing, Proximal f... |
OMIM:183849 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral... |
OMIM:259700 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count... |
OMIM:259710 |
Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly |
ORPHA:37748 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing |
OMIM:615066 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Recurrent fractures, Cutaneous finger syndactyly, Arthritis, Osteopoikilosis... |
ORPHA:1306 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Increased bone minera... |
ORPHA:628 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Broad femoral neck, Coxa valga, Short tubular bones of the hand, Increased bone... |
ORPHA:85184 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... |
ORPHA:2635 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Generalized osteosclerosis, Flared metaphysis, Advanced ta... |
OMIM:215045 |
Osteogenesis Imperfecta, Type Xiii |
|
Wide pubic symphysis, Recurrent fractures, Wide distal femoral metaphysis, Angulated humerus, Inc... |
OMIM:614856 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Osteopetrosis, Splenomegaly |
OMIM:615085 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:600081 |
Dysosteosclerosis |
|
Recurrent fractures, Increased bone mineral density, Coarse metaphyseal trabecularization, Cranio... |
ORPHA:1782 |
Majeed Syndrome |
|
Increased susceptibility to fractures, Metaphyseal irregularity, Flexion contracture, Osteomyelit... |
ORPHA:77297 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300554 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone ... |
ORPHA:2097 |
Craniometaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
Gorham-Stout Disease |
|
Osteomyelitis, Abnormal bone ossification, Abnormal finger morphology, Osteolysis involving bones... |
ORPHA:73 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... |
ORPHA:75508 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Coxa valga, Increased bone mineral density, Flat acetabular roof, Abn... |
ORPHA:163649 |
Caffey Disease |
|
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... |
ORPHA:1310 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Slender long bone, Abnormal cortical bone morphology, Limitation of joint mo... |
ORPHA:1486 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... |
OMIM:156500 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Femoral bowing, Broad thumb |
OMIM:619638 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Abnormal lower-limb metaphysis morphology, Genu valgum, Genu varum,... |
ORPHA:89936 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Dysosteosclerosis |
|
Short diaphyses, Increased susceptibility to fractures, Short sternum, Broad femoral neck, Sclero... |
OMIM:224300 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Short humerus, Ankylosis, Lateral femoral bo... |
OMIM:239000 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Recurrent fractures, Joint laxity, Joint hypermobility, Femoral bowing, General... |
OMIM:617952 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:241530 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Increased bone mineral density, Hypersplenism, Pancytopenia, Osteolysis, Oste... |
ORPHA:77259 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Splenomegaly |
OMIM:612840 |
Ck Syndrome |
|
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Camurati-Engelmann Disease |
|
Anemia, Genu valgum, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:131300 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Finger clinodactyly |
ORPHA:3352 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Calvarial osteosclerosis, Erlenmeyer flask deformity of the femurs, Abnormal pelvic girdle bone m... |
OMIM:123000 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Genu varum, Coxa vara, Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral ... |
ORPHA:289176 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cr... |
OMIM:259730 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... |
OMIM:307800 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... |
OMIM:609220 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Dent Disease 1 |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300009 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Craniofacial hyperostosis, Abnormal ... |
ORPHA:2484 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:264700 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Femoral bowing, Ost... |
OMIM:602080 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:277440 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Lateral femoral bowing, Fibular bowing, Calvarial hyperostosis, Squared i... |
OMIM:112350 |
Proteus Syndrome |
|
Thin bony cortex, Facial hyperostosis, Calvarial hyperostosis, Splenomegaly, Mandibular hyperostosis |
OMIM:176920 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density, Brachydactyly, Abnormal m... |
ORPHA:1798 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hip subluxation, Anemia, Increased bone mineral density, Pancytopenia, Hepatosplenomegaly, Decrea... |
OMIM:259720 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... |
OMIM:602111 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, Increased bone mineral density, Coarse metaphyseal trabecularization, Facial hy... |
ORPHA:2780 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density, Anemia, Abnormality of the medull... |
OMIM:127000 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... |
OMIM:602433 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Thin bony cortex, Metacarpal osteolysis, Thin metacarpal cortices, Pro... |
OMIM:259600 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Genu varum, Osteomalacia, Tibial bowing,... |
ORPHA:289157 |
Pycnodysostosis |
|
Hypoplastic iliac wing, Increased susceptibility to fractures, Small hand, Coronal craniosynostos... |
ORPHA:763 |
Pycnodysostosis |
|
Aplastic clavicle, Increased bone mineral density, Narrow iliac wing, Osteolytic defects of the d... |
OMIM:265800 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... |
OMIM:608728 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Osteomyelitis, Arthritis, Osteolysis, Craniofacial osteosclerosis, Hyperostosis, Abnormal... |
ORPHA:324964 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Hypoplastic iliac wi... |
OMIM:228930 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Hypoplastic inferior ... |
OMIM:608940 |
Pachydermoperiostosis |
|
Genu varum, Splenomegaly, Anemia, Osteomyelitis, Small hand, Arthritis, Abnormal cortical bone mo... |
ORPHA:2796 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Subperiosteal bone formation |
OMIM:609993 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Abnormal... |
ORPHA:2658 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Short thumb, Increased bone mineral density, Synostosis of carpal bones,... |
ORPHA:90652 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Short metacarpal, Femoral retroversion, Radial bowing, Slender long bone, Jo... |
OMIM:610915 |
Poems Syndrome |
|
Metaphyseal sclerosis, Sclerosis of foot bone, Polycythemia, Clubbing of fingers, Thrombocytosis,... |
ORPHA:2905 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... |
ORPHA:35689 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Coxa vara, Osteomalacia, Abnormality of the humerus, Abnormal morphology of the... |
ORPHA:249 |
Blomstrand Lethal Chondrodysplasia |
|
Metaphyseal cupping, Aplastic clavicle, Short metacarpal, Increased bone mineral density, Synosto... |
ORPHA:50945 |
Gaucher Disease Type 3 |
|
Increased susceptibility to fractures, Anemia, Increased bone mineral density, Pancytopenia, Oste... |
ORPHA:77261 |
Erdheim-Chester Disease |
|
Anemia, Osteomyelitis, Increased bone mineral density, Osteolysis, Abnormal metaphysis morphology... |
ORPHA:35687 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Erlenmeyer flask deformity of the femurs, Increased skull ossification, Diaphyseal sclerosis, Cra... |
OMIM:618476 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... |
OMIM:166220 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic iliac wing, Increased susceptibility to fractures, Aplastic clavicle, Coxa vara, Shor... |
OMIM:119600 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Splenomegaly |
OMIM:618541 |
Otopalatodigital Syndrome, Type I |
|
Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th metacarpal, Toe syndactyly, Hip d... |
OMIM:311300 |
StĂĽve-Wiedemann Syndrome |
|
Camptodactyly of finger, Knee flexion contracture, Genu valgum, Flexion contracture, Recurrent fr... |
ORPHA:3206 |
Polycythemia Vera |
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Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis |
ORPHA:3240 |
Pseudohypoparathyroidism Type 1C |
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Broad distal phalanx of the thumb, Short 4th metacarpal, Short 5th metacarpal, Ectopic ossificati... |
ORPHA:79444 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
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Abnormal motor neuron morphology |
OMIM:613724 |
Pseudohypoparathyroidism Type 1B |
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Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
Pseudohypoparathyroidism Type 1A |
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Broad distal phalanx of the thumb, Short 4th metacarpal, Short 5th metacarpal, Ectopic ossificati... |
ORPHA:79443 |
Erythrocytosis, Familial, 8 |
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Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Werner Syndrome |
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Small hand, Increased bone mineral density, Joint stiffness, Osteoporosis, Rocker bottom foot |
ORPHA:902 |
Osteogenesis Imperfecta, Type X |
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Thin bony cortex, Genu valgum, Generalized joint laxity, Joint laxity, Short femur, Osteopenia, D... |
OMIM:613848 |
Polyglucosan Body Neuropathy, Adult Form |
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Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder |
OMIM:263570 |
Erythrocytosis, Familial, 3 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hypoplasia, Femoral bowing,... |
OMIM:616723 |
12Q14 Microdeletion Syndrome |
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Abnormality of the spleen, Clinodactyly of the 5th finger, Osteopoikilosis |
ORPHA:94063 |
Osteopetrosis, Autosomal Recessive 7 |
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Anemia, Abnormal trabecular bone morphology, Osteopetrosis, Femur fracture, Splenomegaly |
OMIM:612301 |
Desmosterolosis |
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Increased bone mineral density, Osteopetrosis, Splenomegaly, Metatarsus adductus |
ORPHA:35107 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Primary Lateral Sclerosis, Juvenile |
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Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
Osteogenesis Imperfecta, Type I |
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Increased susceptibility to fractures, Recurrent fractures, Femoral bowing, Joint hypermobility, ... |
OMIM:166200 |
Dyggve-Melchior-Clausen Disease |
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Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Hypoplastic iliac wing, Genu val... |
OMIM:223800 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Schwartz-Jampel Syndrome |
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Metatarsus valgus, Wrist flexion contracture, Protrusio acetabuli, Genu valgum, Hip contracture, ... |
ORPHA:800 |
Familial Osteodysplasia, Anderson Type |
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Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Aplasia/hypoplasia... |
ORPHA:2769 |
Raine Syndrome |
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Increased bone mineral density, Long hallux, Subperiosteal bone formation, Brachydactyly, Bowing ... |
OMIM:259775 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Short palm, Patchy osteosclerosis, Short foot, Small hand |
OMIM:241410 |
Complex Regional Pain Syndrome |
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Somatic sensory dysfunction, Trophic changes related to pain, Dysesthesia, Allodynia |
ORPHA:83452 |
Gaucher Disease |
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Splenomegaly, Anemia, Osteomyelitis, Recurrent fractures, Increased bone mineral density, Pancyto... |
ORPHA:355 |
Early-Onset Schizophrenia |
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Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... |
ORPHA:96369 |
Dent Disease |
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Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
ORPHA:1652 |
Trigeminal Neuralgia |
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Episodic paroxysmal anxiety, Somatic sensory dysfunction, Allodynia, Paresthesia |
ORPHA:221091 |
Trichothiodystrophy |
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Increased mean corpuscular hemoglobin concentration, Anemia, Multiple joint contractures, Increas... |
ORPHA:33364 |
Geroderma Osteodysplasticum |
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Increased susceptibility to fractures, Recurrent fractures, Hyperextensibility of the finger join... |
OMIM:231070 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Anemia, Recurrent fractures, Abnormal metaphysis morphology, Abnormal e... |
ORPHA:667 |
Erythrocytosis, Familial, 1 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Gm1-Gangliosidosis, Type Ii |
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Thin bony cortex, Sea-blue histiocytosis, Coxa valga, Joint stiffness, Splenomegaly |
OMIM:230600 |
Oculodentodigital Dysplasia |
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Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Clinodacty... |
ORPHA:2710 |
Cartilage-Hair Hypoplasia |
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Metaphyseal dysplasia, Anemia, Metaphyseal cupping, Coxa vara, Joint laxity, Lymphopenia, Joint h... |
OMIM:250250 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Bent Bone Dysplasia Syndrome 2 |
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Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Campomelic Dysplasia |
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Tracheobronchomalacia, Recurrent fractures, Short long bone, Hypoplastic inferior ilia, Hip dislo... |
ORPHA:140 |
Hyperoxaluria, Primary, Type I |
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Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Antley-Bixler Syndrome |
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Camptodactyly of finger, Recurrent fractures, Elbow ankylosis, Narrow pelvis bone, Femoral bowing... |
ORPHA:83 |
Sanjad-Sakati Syndrome |
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Short foot, Patchy osteosclerosis, Small hand |
ORPHA:2323 |
Sclerosteosis 1 |
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Facial palsy secondary to cranial hyperostosis, 2-3 finger syndactyly, Sclerotic scapulae, Abnorm... |
OMIM:269500 |
Stuve-Wiedemann Syndrome 1 |
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Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... |
OMIM:601559 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Knee flexion contracture, Genu valgum, Metaphyseal irregularity, Short 4th metacarpal, Short femo... |
OMIM:618019 |
Hyperparathyroidism, Transient Neonatal |
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Recurrent fractures, Short long bone, Splenic cyst, Short femur, Femoral bowing, Fractured rib, O... |
OMIM:618188 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Flexion contracture, Humeroradial synostosis, Coronal craniosynostosis, Narrow pelvis bone, Campt... |
OMIM:207410 |
Kyphomelic Dysplasia |
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Short metacarpal, Radial bowing, Flat acetabular roof, Ulnar bowing, Limitation of joint mobility... |
OMIM:211350 |
Osteogenesis Imperfecta |
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Flexion contracture, Dislocated radial head, Abnormal metaphysis morphology, Thrombocytopenia, In... |
ORPHA:666 |
Amyotrophic Lateral Sclerosis 21 |
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Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Abnormal lower motor... |
OMIM:606070 |
Faciocardiomelic Syndrome |
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Thin bony cortex, Polydactyly, Slender long bone, Hypoplastic pelvis, Osteopenia |
OMIM:612731 |
Desmosterolosis |
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Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Thin bony cortex, Recurrent fractures, Hyperextensibility of the finger joints, Long hallux, Long... |
OMIM:309583 |
Frank-Ter Haar Syndrome |
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Short phalanx of finger, Short long bone, Hip dysplasia, Camptodactyly, Metatarsus adductus, Cort... |
OMIM:249420 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Cranial nerve compression, Abnormal motor neuron morphology, Amyotrophic lateral sclerosis |
ORPHA:52430 |
Weill-Marchesani Syndrome 1 |
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Thin bony cortex, Broad phalanges of the hand, Broad metatarsal, Broad metacarpals, Brachydactyly... |
OMIM:277600 |
Spondyloocular Syndrome |
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Thin bony cortex, Overlapping toe, Osteopenia, Long toe, Arachnodactyly, Long fingers, Femur frac... |
OMIM:605822 |
Craniotubular Dysplasia, Ikegawa Type |
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Thin bony cortex, Metaphyseal dysplasia, Broad femoral neck, 3-4 finger syndactyly, Short palm, S... |
OMIM:619727 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Abnormal cortical bone morphology |
OMIM:614886 |
Erythrocytosis, Familial, 2 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Thrombocytopenia-Absent Radius Syndrome |
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Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Hepatosplenomegaly, Phocomeli... |
OMIM:274000 |
Atypical Werner Syndrome |
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Osteolytic defects of the phalanges of the hand, Finger clinodactyly, Increased bone mineral dens... |
ORPHA:79474 |
Pyknoachondrogenesis |
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Short long bone, Poorly ossified vertebrae, Abnormal intramembranous ossification, Craniofacial h... |
ORPHA:3003 |
Van Den Ende-Gupta Syndrome |
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Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Dislocated radial ... |
OMIM:600920 |
Lethal Congenital Contracture Syndrome 1 |
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Paucity of anterior horn motor neurons |
OMIM:253310 |
Weill-Marchesani Syndrome 2 |
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Thin bony cortex, Broad phalanges of the hand, Short metacarpal, Elbow flexion contracture, Short... |
OMIM:608328 |
Schinzel-Giedion Midface Retraction Syndrome |
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Short sternum, Wide distal femoral metaphysis, Short 1st metacarpal, Tibial bowing, Increased den... |
OMIM:269150 |
Primary Hyperoxaluria |
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Recurrent fractures, Generalized osteosclerosis |
ORPHA:416 |
Osteopetrosis With Renal Tubular Acidosis |
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Leukopenia, Anemia, Recurrent fractures, Elliptocytosis, Pancytopenia, Thrombocytopenia, Osteopet... |
ORPHA:2785 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
Otopalatodigital Syndrome, Type Ii |
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Toe syndactyly, Elbow contracture, Broad hallux, Short hallux, Postaxial hand polydactyly, Sclero... |
OMIM:304120 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Thin bony cortex, Anemia, Joint laxity, Pancytopenia, Rickets, Osteopenia, Reduced bone mineral d... |
OMIM:613658 |
Williams Syndrome |
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Genu valgum, Hallux valgus, Increased bone mineral density, Radioulnar synostosis, Joint laxity, ... |
ORPHA:904 |
Gaisböck Syndrome |
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Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... |
ORPHA:90041 |
Aspartylglucosaminuria |
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Arthritis, Abnormal cortical bone morphology, Abnormal morphology of ulna, Joint stiffness, Splen... |
ORPHA:93 |
Duodenal Neuroendocrine Tumor |
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Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
Osteoarthritis Susceptibility 1 |
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Hip osteoarthritis |
OMIM:165720 |