Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Acroosteolysis |
|
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes |
OMIM:102400 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Juvenile Hyaline Fibromatosis |
|
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... |
ORPHA:668 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia |
ORPHA:100024 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia |
ORPHA:158014 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ... |
ORPHA:2774 |
Ollier Disease |
|
Micromelia, Joint stiffness, Osteolysis, Abnormal metaphysis morphology, Anemia |
ORPHA:296 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b... |
ORPHA:93160 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... |
ORPHA:2204 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
ORPHA:50809 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma... |
ORPHA:66627 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Abnormal metaphysis... |
ORPHA:1657 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Osteolysis |
ORPHA:494 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp... |
ORPHA:324964 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... |
OMIM:265900 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... |
ORPHA:2635 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morphology, Clinodactyl... |
ORPHA:137834 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Calvarial hyper... |
ORPHA:52430 |
Infantile Myofibromatosis |
|
Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... |
ORPHA:371428 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... |
ORPHA:1486 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Maffucci Syndrome |
|
Osteolysis, Recurrent fractures |
ORPHA:163634 |
Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Osteolysis |
ORPHA:391 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... |
OMIM:612852 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... |
ORPHA:2796 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Felty Syndrome |
|
Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Arthritis, N... |
ORPHA:47612 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pe... |
ORPHA:1426 |
Dent Disease 1 |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Diffuse Cutaneous Systemic Sclerosis |
|
Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Ge... |
OMIM:617952 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Proteus Syndrome |
|
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal fingertip morphology, Osteolysis, Osteolytic defects of the distal phalanges of the hand... |
ORPHA:90154 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p... |
ORPHA:90153 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu... |
ORPHA:464329 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... |
ORPHA:2484 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly, Osteolysis |
ORPHA:678 |
Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... |
ORPHA:1901 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... |
ORPHA:35687 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
H Syndrome |
|
Hallux valgus, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Camptodact... |
ORPHA:168569 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Arthritis, Leukopenia |
ORPHA:809 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involv... |
ORPHA:88630 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... |
ORPHA:2176 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... |
ORPHA:309282 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... |
OMIM:263700 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Brachydactyly, Bowing of the long bones, Recurrent fractures, Splenomegaly, Short toe... |
ORPHA:955 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Rickets |
OMIM:211600 |
Familial Dysautonomia |
|
Osteolysis, Recurrent fractures |
ORPHA:1764 |
Dent Disease |
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Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... |
ORPHA:1652 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
Ovarian Dysgenesis 3 |
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Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Osteopetrosis, Autosomal Dominant 2 |
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Generalized osteosclerosis, Osteopetrosis |
OMIM:166600 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Flexion contracture, Bone cyst, Osteolysis, Narrow iliac wing, Anemia |
ORPHA:3042 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Ovarian Fibrothecoma |
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Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... |
ORPHA:314478 |
Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Eosinophilia, Abnormal hand morphology, Osteolysis, A... |
ORPHA:464 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Osteopenia, Down-sloping shoulders, Joint stiffness, Coxa valga, Flexion contracture, Elbow flexi... |
OMIM:248370 |
Osteogenesis Imperfecta, Type X |
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Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... |
OMIM:613848 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal... |
OMIM:608612 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Osteoporosis, Rickets |
OMIM:560000 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Gaucher Disease |
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Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi... |
ORPHA:355 |
Coccidioidomycosis |
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Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Abnormal long bone m... |
ORPHA:228123 |
Ovarian Fibroma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Osteopetrosis, Autosomal Recessive 8 |
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Osteopetrosis |
OMIM:615085 |
Familial Osteodysplasia, Anderson Type |
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Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... |
ORPHA:2769 |
Hepatoerythropoietic Porphyria |
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Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia |
ORPHA:95159 |
Fanconi Renotubular Syndrome 1 |
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Rickets, Osteomalacia |
OMIM:134600 |
Gm1-Gangliosidosis, Type Ii |
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Coxa valga, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Thin bony co... |
OMIM:230600 |
Cryptococcosis |
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Lymphoid leukemia, Osteomyelitis, Osteolysis |
ORPHA:1546 |
Congenital Erythropoietic Porphyria |
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Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Encephalocraniocutaneous Lipomatosis |
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Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
Chikungunya |
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Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... |
ORPHA:324625 |
Osteopetrosis, Autosomal Recessive 4 |
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Increased bone mineral density, Osteopetrosis |
OMIM:611490 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Rickets |
OMIM:612089 |
46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Splenomegaly, Rickets |
OMIM:607765 |
Mosaic Variegated Aneuploidy Syndrome |
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Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis |
ORPHA:1052 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
Lenz-Majewski Hyperostotic Dwarfism |
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Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
Faciocardiomelic Syndrome |
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Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Fraser-Like Syndrome |
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Ovarian cyst |
OMIM:229230 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Abnormal cortical bone morphology |
OMIM:614886 |
Oculodentodigital Dysplasia |
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Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Mccune-Albright Syndrome |
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Pancytopenia, Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur m... |
ORPHA:562 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Rickets |
OMIM:616026 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count, Diaphyseal sclerosis |
OMIM:259710 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f... |
ORPHA:2636 |
Frank-Ter Haar Syndrome |
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Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d... |
OMIM:249420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... |
OMIM:309583 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large hands, Leuk... |
ORPHA:97685 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea |
ORPHA:247768 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Osteolysis, Neutropenia |
ORPHA:73263 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... |
OMIM:277600 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Aplasia/hypop... |
ORPHA:221016 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Sagittal craniosynostosis, Limited elbow movement, Postaxial poly... |
ORPHA:221120 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis |
OMIM:212750 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... |
OMIM:605822 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ... |
ORPHA:666 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplastic anemia, Aplasia... |
ORPHA:2909 |
Hypermobile Ehlers-Danlos Syndrome |
|
Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflexibility |
ORPHA:285 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Large hands, Ar... |
ORPHA:2671 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Metaphyseal s... |
ORPHA:221008 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia, Abnormality of the medull... |
OMIM:127000 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,... |
OMIM:608328 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... |
ORPHA:18 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Genu valgum, Finger swelling, Pa... |
OMIM:309000 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ... |
OMIM:613658 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... |
ORPHA:79474 |
Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane... |
OMIM:277900 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Abnormal cortical bone mor... |
ORPHA:93 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr... |
ORPHA:740 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Osteomalacia, Joint stiffness, Hip dislocation, Genu valgum, Anemia, Joint h... |
ORPHA:534 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility, Talipes equinovarus |
ORPHA:286 |
Cystinosis, Nephropathic |
|
Splenomegaly, Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets |
OMIM:219800 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Arthritis, T ly... |
OMIM:619381 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size |
OMIM:209900 |
Generalized Arterial Calcification Of Infancy |
|
Osteomalacia, Stippled calcification of the shoulder, Abnormal calcification of the carpal bones,... |
ORPHA:51608 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... |
ORPHA:99226 |