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 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Microphthalmia/Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Microphthalmia, Anophthalmia |
OMIM:611638 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... |
ORPHA:166119 |
Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones |
ORPHA:564003 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses |
OMIM:166740 |
Sclerosteosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:3152 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... |
OMIM:607634 |
Melorheostosis |
|
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in... |
ORPHA:2485 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... |
ORPHA:566943 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... |
OMIM:166600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... |
OMIM:144750 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc... |
ORPHA:210110 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia |
OMIM:615113 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Unilateral microphthalmos |
OMIM:615085 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Microphthalmia |
OMIM:617306 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis |
ORPHA:37748 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Microphthalmia, Delayed patellar ossi... |
ORPHA:163649 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Microphthalmia, Syndromic 5 |
|
Joint hypermobility, Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610125 |
Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Patholog... |
OMIM:259700 |
Dysosteosclerosis |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio... |
ORPHA:1782 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... |
ORPHA:85188 |
Diastrophic Dysplasia |
|
Joint stiffness, Joint hypermobility, Camptodactyly of finger, Increased bone mineral density |
ORPHA:628 |
Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop... |
OMIM:614856 |
Albers-Schönberg Osteopetrosis |
|
Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibular osteomyeli... |
ORPHA:53 |
Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increased bone mi... |
ORPHA:93284 |
Trisomy 13 |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia |
ORPHA:3378 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased bone mineral density, Coronal craniosynostosis |
OMIM:616943 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... |
OMIM:259710 |
Fibular Hemimelia |
|
Abnormal bone ossification, Limited knee flexion/extension, Anophthalmia, Limitation of joint mob... |
ORPHA:93323 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Camptodactyly of 2nd-5th fingers, Anophthalmia, Metatarsal synostosis, 4-5 metaca... |
OMIM:206920 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Thin bony cortex, Osteopenia |
ORPHA:85184 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis |
ORPHA:94089 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... |
OMIM:112250 |
Cockayne Syndrome Type 2 |
|
Flexion contracture, Anophthalmia |
ORPHA:90322 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Majeed Syndrome |
|
Increased bone mineral density, Synovitis, Flexion contracture, Osteomyelitis, Increased suscepti... |
ORPHA:77297 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures |
OMIM:239000 |
Trisomy 1Q |
|
Camptodactyly of finger, Anophthalmia |
ORPHA:261344 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... |
ORPHA:2780 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Microphthalmia, Thickened cortex of long bones |
OMIM:127000 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Dysosteosclerosis |
|
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... |
OMIM:224300 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Sclerosis of skull ba... |
OMIM:131300 |
Pycnodysostosis |
|
Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal... |
ORPHA:763 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
Werner Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
Cockayne Syndrome Type 1 |
|
Foot joint contracture, Anophthalmia |
ORPHA:90321 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Vertebral fusion |
OMIM:206900 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis |
OMIM:618476 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count |
OMIM:259720 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Aniridia, Anophthalmia |
ORPHA:1101 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Patchy osteosclerosis |
OMIM:241410 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Cerebrooculonasal Syndrome |
|
Craniosynostosis, Optic nerve hypoplasia, Anophthalmia |
OMIM:605627 |
Trichothiodystrophy |
|
Osteopenia, Bilateral microphthalmos, Increased bone mineral density, Craniosynostosis, Multiple ... |
ORPHA:33364 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Shoulder flexion contracture, Increased bone mineral density, Wrist f... |
ORPHA:800 |
Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:601186 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... |
ORPHA:2658 |
X-Linked Hypophosphatemia |
|
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... |
ORPHA:89936 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Camptodactyly of f... |
ORPHA:90652 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Sclerosis of hand bone |
ORPHA:2905 |
Holoprosencephaly |
|
Joint hypermobility, Microphthalmia, Anophthalmia |
ORPHA:2162 |
Sanjad-Sakati Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Patchy osteosclerosis |
ORPHA:2323 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita |
OMIM:259775 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis |
ORPHA:35687 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Abnormal bone structure, Joint stiffness, Osteoarthri... |
ORPHA:355 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Reduced bone mineral density, Ectopic ossification, Hyperostosis ... |
ORPHA:79443 |
Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones |
OMIM:620558 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Tarsal synostosis, True anophthalmia, Camptodactyly of 2nd-5th fingers, Synostosi... |
ORPHA:1106 |
Charge Syndrome |
|
Abnormality of bone mineral density, Microphthalmia, Anophthalmia |
ORPHA:138 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification |
ORPHA:79444 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Meckel Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia |
ORPHA:564 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Contracture of the proximal interphalangeal joint of the 2nd toe, F... |
OMIM:300166 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Atypical Werner Syndrome |
|
Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Increased bone min... |
ORPHA:79474 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610829 |
Proboscis Lateralis |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
ORPHA:141099 |
Focal Dermal Hypoplasia |
|
Joint hypermobility, Microphthalmia, Aniridia, Anophthalmia |
OMIM:305600 |
Fraser Syndrome 1 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:219000 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Lambdoidal craniosynostosis, Anophthalmia |
OMIM:607932 |
Williams Syndrome |
|
Osteopenia, Increased bone mineral density, Synostosis of joints, Osteoporosis, Joint stiffness, ... |
ORPHA:904 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Osteopetrosis, Reduced bone mineral density, Recurrent fractures |
ORPHA:667 |
Branchiooculofacial Syndrome |
|
Fusion of middle ear ossicles, Microphthalmia, Elbow flexion contracture, Anophthalmia |
OMIM:113620 |
Charge Syndrome |
|
Microphthalmia, Unilateral microphthalmos, Anophthalmia |
OMIM:214800 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones |
OMIM:269150 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Microphthalmia, Camptodactyly, Joint contracture of the hand |
OMIM:309800 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Block vertebrae, Anophthalmia |
OMIM:164210 |