Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Osteopoikilosis, Joint stiffness |
OMIM:166700 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
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 third metatarsal bone, Flattened metatarsal heads, Sclerosis of foot bone, Thi... |
ORPHA:564003 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... |
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 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... |
ORPHA:3416 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... |
OMIM:166740 |
Sclerosteosis |
|
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... |
ORPHA:3152 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Craniodiaphyseal Dysplasia |
|
Cranial hyperostosis, Diaphyseal sclerosis, Diaphyseal dysplasia, Facial hyperostosis |
OMIM:218300 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Gnathodiaphyseal Dysplasia |
|
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... |
ORPHA:53697 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Generalized osteosclerosi... |
ORPHA:2790 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Isolated Osteopoikilosis |
|
Abnormal pelvis bone morphology, Sclerotic foci within carpal bones, Abnormal pelvis bone ossific... |
ORPHA:166119 |
Osteopetrosis, Autosomal Recessive 6 |
|
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... |
OMIM:611497 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... |
ORPHA:85188 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Fragmented, irregular epiphyses, Sclerosis of foot bone, Joint ... |
ORPHA:566943 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of limb bone morphology, Increased bone mineral density, Splenomegaly, Limb undergrow... |
ORPHA:2204 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... |
OMIM:231095 |
Osteomalacia, sclerosing, with cerebral calcification |
|
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia |
OMIM:259660 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Eiken Syndrome |
|
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... |
ORPHA:79106 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... |
OMIM:600785 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... |
OMIM:607634 |
Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Recurrent fractures, Erlenmeyer flask deformity of the femurs, Increased susc... |
ORPHA:210110 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis, Metaphyseal dysplasia |
OMIM:615198 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, Broad femo... |
ORPHA:2114 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... |
ORPHA:3344 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... |
OMIM:144750 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... |
OMIM:614373 |
Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Bowing of the long bones, Increased bone mineral density, Short palm,... |
ORPHA:90650 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... |
ORPHA:2485 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets |
OMIM:241520 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Progressive leg bowing... |
ORPHA:2501 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Osteolysis, Bowing of the long bones, Pathologic fracture |
OMIM:174810 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... |
OMIM:136300 |
Lethal Recessive Chondrodysplasia |
|
Flared elbow metaphyses, Generalized osteosclerosis, Micromelia, Limb undergrowth, Short long bone |
ORPHA:1423 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Foot acroosteo... |
ORPHA:970 |
Osteopetrosis, Autosomal Dominant 2 |
|
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... |
OMIM:166600 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... |
OMIM:601376 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... |
ORPHA:166277 |
Albers-Schönberg Osteopetrosis |
|
Recurrent fractures, Abnormality of epiphysis morphology, Osteoarthritis, Abnormal leukocyte morp... |
ORPHA:53 |
Gnathodiaphyseal Dysplasia |
|
Bowing of the long bones, Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaph... |
OMIM:166260 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Advanced tarsal ossification, Squared iliac bones, General... |
OMIM:215045 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteopenia, Enlarged epiphyses, Osteoporosis, Camptodactyly, Joint contracture of the hand |
OMIM:264010 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... |
ORPHA:174 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular b... |
OMIM:114000 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Flared humeral metaph... |
OMIM:183849 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Deviation of finger, Arthritis, Osteoarthritis, Abnormality of tibia morphology,... |
ORPHA:1525 |
Pycnodysostosis |
|
Brachydactyly, Osteolytic defects of the distal phalanges of the hand, Abnormality of pelvic gird... |
OMIM:265800 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... |
OMIM:259710 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Craniosynostosis, Increased bone mineral density, Femur fracture, Splenomegaly, Fla... |
OMIM:259700 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus |
OMIM:600121 |
Schnitzler Syndrome |
|
Leukocytosis, Increased bone mineral density, Splenomegaly, Anemia, Arthritis |
ORPHA:37748 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Patchy osteosclerosis, Osteolysis |
OMIM:167250 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Thrombocytopenia, Osteopetrosis |
OMIM:615085 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Joint stiffness, Inc... |
ORPHA:628 |
Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Clinodactyly of the 5th finger, Micromelia, Ab... |
ORPHA:2635 |
Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Flexion contracture, Joint stiffness, Abnormality of epiphysis morphology, Recu... |
ORPHA:1306 |
Osteogenesis Imperfecta, Type Xiv |
|
Femoral bowing, Osteopenia, Recurrent fractures, Increased susceptibility to fractures |
OMIM:615066 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral neck, Thin bony cortex, Ove... |
ORPHA:85184 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Arthralgia of the hip, Flattened femoral head, Abnormal shoul... |
ORPHA:93284 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Anemia, Osteopetrosis, Reticulocytosis, Th... |
OMIM:611490 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... |
OMIM:600081 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Dislocated radial head, Osteoporosis, Joint hypermobility, Arachn... |
OMIM:614856 |
Dysosteosclerosis |
|
Increased bone mineral density, Recurrent fractures, Craniofacial hyperostosis, Abnormality of th... |
ORPHA:1782 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... |
OMIM:300554 |
Majeed Syndrome |
|
Metaphyseal irregularity, Leukocytosis, Increased bone mineral density, Congenital hypoplastic an... |
ORPHA:77297 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Gorham-Stout Disease |
|
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormal bone ossification, A... |
ORPHA:73 |
Grant Syndrome |
|
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... |
ORPHA:2097 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... |
ORPHA:93356 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormality of the metaphysis, Osteopetrosis |
ORPHA:1522 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... |
ORPHA:75508 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Flattened epiphysis, Coxa valga, Increased bone mineral density, Abnormal bone os... |
ORPHA:163649 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fractures of the long bones, Bowing of the legs, Osteopenia, Patchy osteosclerosis, Metaphyseal s... |
OMIM:112250 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Recurrent fractures, Slender long bone, Abnormal cortical bone morp... |
ORPHA:1486 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 5th metacarpal, Short 4th metacarpal, Rhizomelia, Thin bony cortex, Broad thumb, Femoral bo... |
OMIM:619638 |
X-Linked Hypophosphatemia |
|
Bowing of the long bones, Genu varum, Bowing of the legs, Craniosynostosis, Upper limb metaphysea... |
ORPHA:89936 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... |
OMIM:156500 |
Dysosteosclerosis |
|
Narrow iliac wing, Clavicular sclerosis, Osteopenia, Progressive bowing of long bones, Short ster... |
OMIM:224300 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Joint laxity, Joint hype... |
OMIM:617952 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... |
ORPHA:289176 |
Caffey Disease |
|
Cortical irregularity, Cortical thickening of long bone diaphyses, Calvarial hyperostosis, Perios... |
ORPHA:1310 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... |
OMIM:241530 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Bowing of the long bones, Osteopenia, Increased bone mineral density, Recurrent fractures, Latera... |
OMIM:239000 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
Ophthalmomandibulomelic Dysplasia |
|
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Limitation of join... |
ORPHA:2741 |
Fibular Hemimelia |
|
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... |
ORPHA:93323 |
Acrocapitofemoral Dysplasia |
|
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... |
OMIM:607778 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Ck Syndrome |
|
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Bruck Syndrome 2 |
|
Osteopenia, Elbow flexion contracture, Flexion contracture, Increased susceptibility to fractures... |
OMIM:609220 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Femoral bowing, Osteopenia, Osteoporosis |
OMIM:126550 |
Gaucher Disease Type 1 |
|
Pancytopenia, Leukopenia, Increased bone mineral density, Osteopenia, Splenomegaly, Osteoarthriti... |
ORPHA:77259 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Osteopetrosis, Extramedullary hematopoiesis |
OMIM:612840 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... |
OMIM:264700 |
Camurati-Engelmann Disease |
|
Diaphyseal sclerosis, Increased bone mineral density, Sclerosis of skull base, Anemia, Cortical t... |
OMIM:131300 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Finger syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Finger clinodactyly |
ORPHA:3352 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... |
OMIM:259720 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetrosis, Extramedul... |
OMIM:259730 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, L... |
OMIM:619598 |
Dent Disease 1 |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... |
OMIM:300009 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... |
OMIM:307800 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... |
ORPHA:3329 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Joint hyperflexibility, Craniofacial hyperostosis, Cone-sha... |
ORPHA:2484 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fibular hypopl... |
OMIM:200700 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Me... |
OMIM:602111 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin bony cortex, Calvarial hyperostosis |
OMIM:176920 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Brachydactyly, Increased bone mineral density, Abnormality of epiphysis... |
ORPHA:1798 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Calvarial hyperostosis, Fibu... |
OMIM:112350 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... |
OMIM:277440 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Pseudohypoparathyroidism Type 1B |
|
Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Increased bone den... |
ORPHA:94089 |
Hyperparathyroidism, Transient Neonatal |
|
Femoral bowing, Osteopenia |
OMIM:618188 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Facial hyperostosis, Abnormality of the metaphysis, Osteopetrosis... |
ORPHA:2780 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Abnormality of pelvic girdle bone morphology, Sclerosis of skull base, Club-shaped distal femur, ... |
OMIM:123000 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... |
OMIM:602433 |
Acromesomelic Dysplasia 2C |
|
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... |
OMIM:201250 |
Pycnodysostosis |
|
Brachydactyly, Hepatosplenomegaly, Increased bone mineral density, Coronal craniosynostosis, Rhiz... |
ORPHA:763 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... |
OMIM:228930 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Anemia, Increased bone mineral density, Abnormality of the medull... |
OMIM:127000 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Sparse bone trabeculae, Tibial bowing, Increased susceptibility to fractures, Osteoma... |
ORPHA:289157 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness, Short metaca... |
OMIM:608940 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormality of epiphysis morphology, Craniofacial osteosclerosis, Anemia, Abnormal sacroiliac joi... |
ORPHA:324964 |
Pachydermoperiostosis |
|
Genu varum, Abnormality of epiphysis morphology, Arthritis, Limitation of joint mobility, Splenom... |
ORPHA:2796 |
Blomstrand Lethal Chondrodysplasia |
|
Bowing of the long bones, Increased bone mineral density, Abnormality of epiphysis morphology, Sh... |
ORPHA:50945 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Increased bone mineral d... |
ORPHA:90652 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger sy... |
ORPHA:2658 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder |
OMIM:263570 |
StĂĽve-Wiedemann Syndrome |
|
Bowing of the long bones, Osteopenia, Flexion contracture, Recurrent fractures, Elbow flexion con... |
ORPHA:3206 |
Poems Syndrome |
|
Sclerosis of foot bone, Metaphyseal sclerosis, Thrombocytosis, Sclerosis of hand bone, Sclerosis ... |
ORPHA:2905 |
Fibrous Dysplasia Of Bone |
|
Bowing of the long bones, Cortical irregularity, Abnormality of the ulna, Abnormal pelvis bone mo... |
ORPHA:249 |
Gaucher Disease Type 3 |
|
Pancytopenia, Increased bone mineral density, Splenomegaly, Increased susceptibility to fractures... |
ORPHA:77261 |
Osteogenesis Imperfecta, Type Viii |
|
Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal fractures, S... |
OMIM:610915 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... |
OMIM:205100 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Absent ossification of capital femoral epiphysis, Flexion contracture, Joint stiffness, Tibial bo... |
OMIM:245160 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Subperiosteal bone formation |
OMIM:609993 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Craniosynostosis, Osteopenia, Short femoral neck, Short metacarpal, Proximal femoral epiphysiolys... |
OMIM:616723 |
Osteogenesis Imperfecta, Type Iv |
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Recurrent fractures, Increased susceptibility to fractures, Femoral bowing present at birth, stra... |
OMIM:166220 |
Stuve-Wiedemann Syndrome 1 |
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Bowing of the long bones, Contracture of the proximal interphalangeal joint of the 5th finger, Me... |
OMIM:601559 |
Cleidocranial Dysplasia |
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Brachydactyly, Increased bone mineral density, Short femoral neck, Cone-shaped epiphyses of the p... |
OMIM:119600 |
Autoimmune Hypoparathyroidism |
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Increased bone mineral density |
ORPHA:36913 |
Geroderma Osteodysplasticum |
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Osteopenia, Recurrent fractures, Tibial bowing, Osteoporosis, Increased susceptibility to fractur... |
OMIM:231070 |
Erdheim-Chester Disease |
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Increased bone mineral density, Abnormality of epiphysis morphology, Anemia, Osteomyelitis, Abnor... |
ORPHA:35687 |
Polycythemia Vera |
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Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... |
OMIM:263300 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Metaphyseal widening, Osteopetrosis |
OMIM:618476 |
Pseudohypoparathyroidism Type 1C |
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Brachydactyly, Short 5th metacarpal, Increased bone mineral density, Short metacarpal, Broad dist... |
ORPHA:79444 |
Dyggve-Melchior-Clausen Disease |
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Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic iliac wing, Me... |
OMIM:223800 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Genu valgum,... |
ORPHA:457395 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
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Abnormal motor neuron morphology |
OMIM:613724 |
Pseudohypoparathyroidism Type 1A |
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Brachydactyly, Short 5th metacarpal, Increased bone mineral density, Short metacarpal, Broad dist... |
ORPHA:79443 |
Desmosterolosis |
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Increased bone mineral density, Splenomegaly, Metatarsus adductus, Micromelia, Osteopetrosis |
ORPHA:35107 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Primary Lateral Sclerosis, Juvenile |
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Abnormal upper motor neuron morphology |
OMIM:606353 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Short foot, Patchy osteosclerosis, Short palm, Small hand |
OMIM:241410 |
Otopalatodigital Syndrome, Type I |
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Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Hip dislocation, Syno... |
OMIM:311300 |
Osteogenesis Imperfecta, Type I |
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Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Joint hypermobility, Femo... |
OMIM:166200 |
Early-Onset Schizophrenia |
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Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Emotional lability, Irritability, Abnorm... |
ORPHA:96369 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Anemia, Osteopetrosis |
OMIM:612301 |
12Q14 Microdeletion Syndrome |
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Clinodactyly of the 5th finger, Osteopoikilosis, Abnormality of the spleen |
ORPHA:94063 |
Primary Lateral Sclerosis |
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Atrophy of the spinal cord, Abnormal upper motor neuron morphology, Cervical spinal cord atrophy |
ORPHA:35689 |
Schwartz-Jampel Syndrome |
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Bowing of the long bones, Coxa valga, Increased bone mineral density, Abnormality of epiphysis mo... |
ORPHA:800 |
Raine Syndrome |
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Bowing of the long bones, Brachydactyly, Increased bone mineral density, Micromelia, Long hallux,... |
OMIM:259775 |
Erythrocytosis, Familial, 4 |
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Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Erythrocytosis, Familial, 5 |
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Increased hemoglobin, Increased hematocrit, Polycythemia |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
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Increased hemoglobin, Increased hematocrit, Polycythemia |
OMIM:617980 |
Cartilage-Hair Hypoplasia |
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Abnormality of pelvic girdle bone morphology, Short palm, Congenital hypoplastic anemia, Impaired... |
OMIM:250250 |
Gaucher Disease |
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Pancytopenia, Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, A... |
ORPHA:355 |
Familial Osteodysplasia, Anderson Type |
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Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Increased susceptibility ... |
ORPHA:2769 |
Otopalatodigital Syndrome, Type Ii |
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Short thumb, Bulbous tips of toes, Irregular metacarpals, Sclerosis of skull base, Broad hallux, ... |
OMIM:304120 |
Sclerosteosis 1 |
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Abnormality of pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular ... |
OMIM:269500 |
Dent Disease |
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Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... |
ORPHA:1652 |
Trichothiodystrophy |
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Clubbing, Craniosynostosis, Osteopenia, Increased bone mineral density, Multiple joint contractur... |
ORPHA:33364 |
Complex Regional Pain Syndrome |
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Dysesthesia, Trophic changes related to pain, Somatic sensory dysfunction, Allodynia |
ORPHA:83452 |
Anauxetic Dysplasia 3 |
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Brachydactyly, Broad middle phalanx of finger, Trident hand, Short metacarpal, Squared iliac bone... |
OMIM:618853 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Craniosynostosis, Recurrent fractures, Abnormality of epiphysis morphol... |
ORPHA:667 |
Campomelic Dysplasia |
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Bowing of the long bones, Hypoplastic inferior ilia, Tracheomalacia, Recurrent fractures, Fibular... |
ORPHA:140 |
Erythrocytosis, Familial, 1 |
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Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:133100 |
Trigeminal Neuralgia |
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Paresthesia, Episodic paroxysmal anxiety, Somatic sensory dysfunction, Allodynia |
ORPHA:221091 |
Hyperoxaluria, Primary, Type I |
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Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Van Den Ende-Gupta Syndrome |
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Craniosynostosis, Elbow flexion contracture, Dislocated radial head, Slender metacarpals, Distal ... |
OMIM:600920 |
Desmosterolosis |
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Bilateral talipes equinovarus, Rhizomelia, Generalized osteosclerosis, Arthrogryposis multiplex c... |
OMIM:602398 |
Werner Syndrome |
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Joint stiffness, Increased bone mineral density, Rocker bottom foot, Osteoporosis, Small hand |
ORPHA:902 |
Kyphomelic Dysplasia |
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Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micromelia, Ulnar bowing, Flared metaph... |
OMIM:211350 |
Oculodentodigital Dysplasia |
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Cranial hyperostosis, Clinodactyly, Brachydactyly, Toe syndactyly, Finger syndactyly, Clinodactyl... |
ORPHA:2710 |
Sanjad-Sakati Syndrome |
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Short foot, Patchy osteosclerosis, Small hand |
ORPHA:2323 |
Antley-Bixler Syndrome |
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Craniosynostosis, Joint stiffness, Recurrent fractures, Arachnodactyly, Narrow pelvis bone, Campt... |
ORPHA:83 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micromelia, Dumbbell-shaped long bone, Metaphyse... |
ORPHA:440354 |
Amyotrophic Lateral Sclerosis 21 |
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Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
Osteogenesis Imperfecta |
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Fractures of the long bones, Abnormal hip bone morphology, Osteoporosis, Decreased skull ossifica... |
ORPHA:666 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Lambdoidal craniosynostosis, Flexion contracture, Coronal craniosynostosis, Rocker bottom foot, U... |
OMIM:207410 |
Thanatophoric Dysplasia Type 1 |
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Bowing of the long bones, Brachydactyly, Joint stiffness, Short greater sciatic notch, Femoral bo... |
ORPHA:1860 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Recurrent fractures, Osteoporosis, Thin bony cortex, Long hallux, Long fingers, Hyperextensibilit... |
OMIM:309583 |
Frank-Ter Haar Syndrome |
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Bilateral talipes equinovarus, Cortical irregularity, Bowing of the long bones, Osteopenia, Short... |
OMIM:249420 |
Faciocardiomelic Syndrome |
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Osteopenia, Polydactyly, Thin bony cortex, Hypoplastic pelvis, Slender long bone |
OMIM:612731 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Abnormal cortical bone morphology |
OMIM:614886 |
Pyknoachondrogenesis |
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Abnormal intramembranous ossification, Hypoplastic ischia, Short long bone, Aplastic pubic bones,... |
ORPHA:3003 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology |
ORPHA:52430 |
Weill-Marchesani Syndrome 1 |
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Brachydactyly, Joint stiffness, Thin bony cortex, Broad metacarpals, Broad phalanges of the hand,... |
OMIM:277600 |
Craniotubular Dysplasia, Ikegawa Type |
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Short palm, Broad femoral neck, Broad ischia, Sclerosis of skull base, Thin bony cortex, Metaphys... |
OMIM:619727 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
Schinzel-Giedion Midface Retraction Syndrome |
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Short sternum, Thickened cortex of long bones, Wide distal femoral metaphysis, Increased density ... |
OMIM:269150 |
Weill-Marchesani Syndrome 2 |
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Brachydactyly, Joint stiffness, Short metacarpal, Thin bony cortex, Broad metacarpals, Flexion co... |
OMIM:608328 |
Atypical Werner Syndrome |
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Increased bone mineral density, Short palm, Rocker bottom foot, Sclerosis of hand bone, Osteoporo... |
ORPHA:79474 |
Lethal Congenital Contracture Syndrome 1 |
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Paucity of anterior horn motor neurons |
OMIM:253310 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Metaphy... |
OMIM:613091 |
Osteopetrosis With Renal Tubular Acidosis |
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Pancytopenia, Leukopenia, Recurrent fractures, Anemia, Osteopetrosis, Elliptocytosis, Thrombocyto... |
ORPHA:2785 |
Campomelic Dysplasia |
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Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Fibular hypoplasia, Poorly ossifi... |
OMIM:114290 |
Primary Hyperoxaluria |
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Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... |
OMIM:276820 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Pancytopenia, Osteopenia, Joint laxity, Thin bony cortex, Anemia, Reduced bone mineral density, R... |
OMIM:613658 |
Williams Syndrome |
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Abnormality of pelvic girdle bone morphology, Osteopenia, Increased bone mineral density, Joint s... |
ORPHA:904 |
Gaisböck Syndrome |
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Increased hematocrit, Increased mean corpuscular hemoglobin concentration, Increased red blood ce... |
ORPHA:90041 |
Aspartylglucosaminuria |
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Abnormality of the ulna, Joint stiffness, Arthritis, Splenomegaly, Abnormal cortical bone morphology |
ORPHA:93 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia |
ORPHA:85165 |
Duodenal Neuroendocrine Tumor |
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Iron deficiency anemia, Increased hematocrit |
ORPHA:100076 |
Osteoarthritis Susceptibility 1 |
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Hip osteoarthritis |
OMIM:165720 |