Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Osteosclerotic Metaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Clavicul... |
OMIM:615198 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration, Osteolysis |
OMIM:606263 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... |
OMIM:239100 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... |
ORPHA:329475 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Osteolysis, Thin bo... |
OMIM:174810 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... |
OMIM:167250 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... |
OMIM:122860 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating alkaline phosphatase con... |
OMIM:620366 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ... |
ORPHA:668 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... |
OMIM:600785 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susceptibility to... |
OMIM:146300 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin... |
OMIM:606631 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Rickets, Osteo... |
OMIM:193100 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration |
OMIM:619073 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones |
ORPHA:53697 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Elevated alkaline phosphatase of bone origin |
OMIM:615923 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis, Recurrent frac... |
OMIM:126550 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Prolonged neonatal jaundice |
OMIM:619256 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Hypophosphatasia, Childhood |
|
Low alkaline phosphatase, Craniosynostosis |
OMIM:241510 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration, Paget disease of bone |
OMIM:615422 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Increased circulating lactate dehydrogenase concen... |
OMIM:259700 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... |
ORPHA:85188 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:600081 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Elbow flexion contracture, Knee flexion contracture, Elevated circul... |
OMIM:616809 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis |
ORPHA:529665 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
Fibrodysplasia Ossificans Progressiva |
|
Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Ectopic ossif... |
OMIM:135100 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia |
ORPHA:89937 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... |
OMIM:602080 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bon... |
ORPHA:73 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:241530 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
OMIM:619232 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Elevated ci... |
OMIM:610968 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Elevate... |
OMIM:239000 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Wide anterior fontanel, Abnormal b... |
ORPHA:163649 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration |
OMIM:613312 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Osteolysis, Increased susceptibility to fractures, Elevated circulating alkaline phosphatase conc... |
ORPHA:52430 |
Aplasia Cutis Congenita |
|
Abnormality of bone mineral density |
ORPHA:1114 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Fanconi Renotubular Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia |
OMIM:134600 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Elevated alkaline phosphatas... |
ORPHA:289176 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Paget disease of bone, Elevated alkaline phosphatase of bone origin |
OMIM:167320 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:277440 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Osteoporosis, Osteolysis, Elevated circulating alkaline phosphatase concentr... |
ORPHA:98850 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Neutrophilia, Hereditary |
|
Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Rickets |
OMIM:616026 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures |
OMIM:616833 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Spina bifida occulta, Coarse ... |
ORPHA:2780 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Elevated alkaline phosphatase of bone origin, Osteomalacia, Reduced bone mineral density, Hypopho... |
ORPHA:157215 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... |
OMIM:616829 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Wide anterior fontanel, Sclerosis of skull base, Elevated circulating alkaline phosph... |
OMIM:269300 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Rickets, Elevated circulating alkaline phosphatase concentration, H... |
OMIM:307800 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating a... |
ORPHA:2088 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Elevated circulating alkaline phosphatase concentration, Patholog... |
ORPHA:352540 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... |
OMIM:131300 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Knee flexion contracture, Elevated circulating alkaline phosphatase ... |
OMIM:156400 |
Estrogen Resistance |
|
Osteopenia, Elevated alkaline phosphatase of bone origin |
OMIM:615363 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ... |
ORPHA:785 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Low alkaline phosphatase |
OMIM:618879 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Low alkaline phosphatase, Increased susceptibility to fractures, Decreased calv... |
OMIM:241500 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... |
OMIM:619658 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Eosinophilia, Jaundice, Bone cyst, Elevated circulating alkaline p... |
ORPHA:400 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Fanconi-Bickel Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Intrahepatic cholest... |
OMIM:227810 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ossification, Rick... |
ORPHA:289157 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase, Ankle flexion contracture |
OMIM:619985 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... |
OMIM:259720 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase |
OMIM:254700 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Elevated hepat... |
ORPHA:263455 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:174050 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Knee flexion contracture, Elevated circulating alkaline phosphatase concentrat... |
OMIM:618162 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Eiken Syndrome |
|
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Delayed tarsal ossificatio... |
OMIM:600002 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Recurrent fractures, Subperiosteal bone formation, Elevated circulating alkaline phos... |
OMIM:618188 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
Raine Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Arthrogryposis multiplex congenita, Incr... |
OMIM:259775 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Osteoporosis, Hepatitis, Elevated circulating alkaline phosphatase... |
ORPHA:186 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:214900 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening |
OMIM:617994 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone |
ORPHA:2905 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Abnormality of alkaline phosphatase level |
OMIM:619356 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... |
OMIM:619484 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis |
ORPHA:35687 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Osteoporosis, Elevated alkaline phosphatase of bone origin |
ORPHA:398063 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... |
ORPHA:90652 |
Specific Granule Deficiency 1 |
|
Low neutrophil alkaline phosphatase |
OMIM:245480 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration |
OMIM:614749 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... |
OMIM:235555 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:613489 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615424 |
Desmosterolosis |
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Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Joint laxity, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:617093 |
Blomstrand Lethal Chondrodysplasia |
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Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
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Elevated circulating alkaline phosphatase concentration, Delayed ossification of carpal bones |
OMIM:239300 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616025 |
Primary Hyperoxaluria |
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Elevated hepatic transaminase, Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Cholesteryl Ester Storage Disease |
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Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Portal hype... |
OMIM:278000 |
Cog4-Cdg |
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Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... |
ORPHA:263501 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Vascular Malformation, Primary Intraosseous |
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Elevated circulating alkaline phosphatase concentration |
OMIM:606893 |
Schwartz-Jampel Syndrome |
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Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
Sanjad-Sakati Syndrome |
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Patchy osteosclerosis |
ORPHA:2323 |
Pseudohypoparathyroidism Type 1C |
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Ectopic ossification, Increased bone mineral density |
ORPHA:79444 |
Trichothiodystrophy |
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Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis |
ORPHA:33364 |
Graft Versus Host Disease |
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Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja... |
ORPHA:39812 |
Pseudohypoparathyroidism Type 1A |
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Hyperostosis frontalis interna, Ectopic ossification, Increased bone mineral density, Reduced bon... |
ORPHA:79443 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice |
OMIM:605479 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Elevated circulating aspartate aminotransferase concentration, Wide anterior fontanel, Jaundice, ... |
OMIM:614866 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:613812 |
Lathosterolosis |
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Elevated hepatic transaminase, Intrahepatic cholestasis, Osteoporosis, Elevated circulating alkal... |
OMIM:607330 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615716 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele... |
OMIM:619662 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro... |
OMIM:616828 |
Dent Disease |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Low alkaline phosphatase, Joint hypermobility |
ORPHA:369837 |
Cleidocranial Dysplasia 1 |
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Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Congenital Disorder Of Glycosylation, Type Iil |
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Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... |
OMIM:614576 |
Sapho Syndrome |
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Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... |
ORPHA:793 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Intermittent j... |
OMIM:601847 |
Sclerosteosis 1 |
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Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Increased susceptibility to fractures, Abnormal trabecular bone morphology, Reduced b... |
ORPHA:2909 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619525 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Multiple joint contractures, Low alkaline phosphatase, Elevated circulating alkalin... |
OMIM:618143 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
Autosomal Recessive Malignant Osteopetrosis |
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Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
Xq12-Q13.3 Duplication Syndrome |
|
Low alkaline phosphatase |
ORPHA:314389 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... |
OMIM:613095 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism, Synostosis involving bones... |
ORPHA:221016 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:600803 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism |
ORPHA:221008 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Portal hypertension, Elevated circulating alkaline phosphatase concentration, Craniosynostosis, E... |
OMIM:620005 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology,... |
ORPHA:171 |
Boudin-Mortier Syndrome |
|
Joint laxity, Elevated alkaline phosphatase of bone origin |
OMIM:619543 |
Osteopetrosis With Renal Tubular Acidosis |
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Osteopetrosis, Recurrent fractures, Abnormal circulating enzyme concentration or activity |
ORPHA:2785 |
Wild Type Attr Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:330001 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:30391 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
ORPHA:69665 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Portal hypertension, Jaundice, Elevated circulating alkaline phosp... |
ORPHA:567983 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:605814 |
Caroli Disease |
|
Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminotransf... |
ORPHA:53035 |
Trichohepatoneurodevelopmental Syndrome |
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Joint laxity, Elevated circulating alkaline phosphatase concentration, Distal arthrogryposis, Dec... |
OMIM:618268 |
Developmental And Epileptic Encephalopathy 80 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:618580 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:247262 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level |
ORPHA:247691 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Joint laxity, Abnormality of alkaline phosphatase level, Limited elbow extension, Delayed ossific... |
OMIM:300106 |
Schinzel-Giedion Midface Retraction Syndrome |
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Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones |
OMIM:269150 |
Renal Cysts And Diabetes Syndrome |
|
Abnormality of alkaline phosphatase level, Gout, Elevated hepatic transaminase |
OMIM:137920 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:614207 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Spina bi... |
ORPHA:904 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Low alkaline phosphatase |
OMIM:201100 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration |
ORPHA:67 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Wide anterior fontanel, Elevated circulating alkaline phosphatase concentration |
OMIM:618548 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:280000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Elevat... |
OMIM:300868 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:617156 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Jaundice, Elevated circulating alk... |
ORPHA:275761 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
ORPHA:521219 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Interface hepatitis, Elevated circulating alkaline phosphatase con... |
ORPHA:562639 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated ... |
ORPHA:480520 |
Al Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:85443 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... |
ORPHA:94093 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:247598 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Elevated circulating aspartate aminotransferase concentration, Portal hypertension, J... |
OMIM:619534 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy... |
ORPHA:84081 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun... |
ORPHA:100085 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase |
OMIM:608232 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... |
OMIM:124000 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
OMIM:613471 |
Gallbladder Neuroendocrine Tumor |
|
Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... |
ORPHA:100086 |
Generalized Arterial Calcification Of Infancy |
|
Elevated alkaline phosphatase of bone origin, Osteomalacia, Abnormal calcification of the carpal ... |
ORPHA:51608 |
Juvenile Nephropathic Cystinosis |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:411634 |