Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
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 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Brachydactyly, Type A1, D |
|
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... |
OMIM:616849 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration |
OMIM:601780 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l... |
OMIM:204500 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones |
ORPHA:53697 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Gait disturbance |
ORPHA:1178 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Ataxia |
ORPHA:2579 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis |
OMIM:277950 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... |
OMIM:610951 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Cardiomyopathy |
OMIM:609016 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Depressi... |
OMIM:256730 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... |
OMIM:204200 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Corpus callosum atrophy, Inability to walk, Retina... |
OMIM:619389 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Dysmetria, Dysdiadoch... |
OMIM:256731 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, Ret... |
OMIM:551500 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Retinal degeneration |
OMIM:257970 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Failure to thrive... |
OMIM:615198 |
Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis |
ORPHA:397685 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Isolated Glycerol Kinase Deficiency |
|
Osteoporosis |
ORPHA:408 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Unsteady gait, Retinal degeneration, Cardiomyopathy |
OMIM:520000 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Waddling gait, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy |
OMIM:619090 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Central Retinal Vein Occlusion |
|
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... |
ORPHA:411527 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Optic atrophy, Gliosis, Global brain atrophy |
OMIM:236792 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Optic atrophy, Choreoathetosis, Agitation, Hypertrophic cardio... |
OMIM:300438 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia |
ORPHA:100024 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment |
OMIM:600790 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... |
OMIM:605750 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Retinopathy, Gliosis |
OMIM:615119 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Ataxia, Retinal degeneration |
ORPHA:3363 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization |
OMIM:608895 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
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 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary retinop... |
OMIM:164500 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Third degree atrioventricular block |
ORPHA:480 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... |
ORPHA:179 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures |
OMIM:615066 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Dilated cardiomyopathy |
ORPHA:2515 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
Adamantinoma |
|
Pathologic fracture, Bone pain |
ORPHA:55881 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co... |
OMIM:600593 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio... |
ORPHA:99000 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... |
ORPHA:970 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Ir... |
OMIM:615147 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Osteoporosis |
OMIM:616033 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Hypertension, Retinal dystrophy, Ataxia |
ORPHA:3156 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Recurrent fractures |
OMIM:619884 |
Exudative Vitreoretinopathy 5 |
|
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... |
OMIM:613310 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Rothmund-Thomson Syndrome, Type 1 |
|
Osteoporosis |
OMIM:618625 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... |
OMIM:204100 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia |
OMIM:615266 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Ataxia |
OMIM:266130 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis |
ORPHA:2958 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Degeneration of the lateral corticospinal tracts, Macular degeneration, Tip-toe gait, Cer... |
OMIM:604360 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Optic atrophy, Emotional lability, Gait disturbance, Gliosis, Lethargy |
OMIM:603896 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:616896 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir... |
ORPHA:644 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Gliosis, Emotional lability |
OMIM:256000 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia |
OMIM:125700 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... |
OMIM:265900 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration |
OMIM:607016 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture... |
OMIM:259450 |
Prieto Syndrome |
|
Osteoporosis |
OMIM:309610 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:614880 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Joint stiffness, Abnormal encho... |
ORPHA:2635 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
Juvenile Paget Disease |
|
Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization |
ORPHA:2801 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Bone pain, Recurrent fractures |
ORPHA:329475 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures |
OMIM:126550 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Genu varum, Epiphyseal stippling, Coronal cleft vertebrae, Abnormal bon... |
ORPHA:1952 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Splenomegaly, Osteoporosis |
ORPHA:79301 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bone pain, Osteolysis, Thin bony cortex |
OMIM:174810 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Osteoporosis, Thrombocytopenia |
OMIM:614727 |
Congenital Glaucoma |
|
Visual loss, Retinal detachment |
ORPHA:98976 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy, Ataxia |
OMIM:245800 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Hypercholanemia, Familial, 2 |
|
Osteopenia |
OMIM:619256 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:252650 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Depression |
OMIM:614307 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Tachycardia, Cerebral atrophy, Depression, Pigmentary reti... |
ORPHA:79264 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Abetalipoproteinemia |
|
Ataxia, Retinopathy, Retinal degeneration |
OMIM:200100 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mobility, Ec... |
ORPHA:337 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Irritability, Dysphagia, Rod-cone dystrophy |
OMIM:264470 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... |
ORPHA:98848 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Pigmentary retinopathy, Cardiomyopathy, Gait imbalance, Dys... |
ORPHA:329336 |
Perrault Syndrome 1 |
|
Osteoporosis |
OMIM:233400 |
Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Eye poking, Attenuation of retinal blo... |
OMIM:204000 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis |
OMIM:618234 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Ataxia, Optic atrophy, Cardiomyopathy, Arrhythmia, Retinal degeneration |
OMIM:249270 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rod-... |
OMIM:610127 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Bruck Syndrome |
|
Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness |
ORPHA:2771 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... |
OMIM:618392 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Ataxia, Macular degeneration, Emotional lability, Spastic gait, Retinal degeneration |
OMIM:270700 |
Analbuminemia |
|
Osteoporosis |
OMIM:616000 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis |
OMIM:614838 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Hjv Or Hamp-Related Hemochromatosis |
|
Osteoporosis |
ORPHA:79230 |
Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis |
OMIM:601811 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Fractures of the long bones, Osteoporosis |
ORPHA:319195 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Developmental And Epileptic Encephalopathy 28 |
|
Cerebral atrophy, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Polydipsia, Rod-cone dystrophy, Polyphagia, Retinal dege... |
OMIM:615986 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
Hemimegalencephaly |
|
Optic atrophy, Gliosis, Abnormal neuron morphology |
ORPHA:99802 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... |
ORPHA:171706 |
Refsum Disease, Classic |
|
Ataxia, Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retinal degener... |
OMIM:266500 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Cln3 Disease |
|
Cerebellar atrophy, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depressio... |
ORPHA:228346 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Iris coloboma |
ORPHA:1259 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Mycetoma |
|
Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab... |
ORPHA:2583 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy |
ORPHA:1466 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis |
OMIM:610628 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Arr... |
ORPHA:96 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ce... |
OMIM:256600 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Dense metaphyseal bands, Small for gestational age, Slender long bones with narrow di... |
ORPHA:50811 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Osteoporosis |
ORPHA:369 |
Ovarian Dysgenesis 8 |
|
Osteoporosis |
OMIM:618187 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis |
OMIM:613849 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Choreoathetosis, Frontot... |
ORPHA:391428 |
Sialidosis Type 2 |
|
Splenomegaly, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Pseudopseudohypoparathyroidism |
|
Osteoporosis |
OMIM:612463 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Aceruloplasminemia |
|
Ataxia, Retinal degeneration |
OMIM:604290 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Cerebral atrophy, Difficulty walking, Brain at... |
ORPHA:442835 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Osteoporosis, Camptodactyly |
OMIM:616006 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Camptodactyly of finger |
ORPHA:48431 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Reduced bone mineral density |
OMIM:620200 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures |
ORPHA:2788 |
Alg6-Cdg |
|
Rod-cone dystrophy, Ataxia, Retinal degeneration |
ORPHA:79320 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Hall-Riggs Syndrome |
|
Osteoporosis |
OMIM:234250 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... |
OMIM:193220 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... |
ORPHA:542306 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:1173 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Telangiectasia of the skin |
ORPHA:3019 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus |
ORPHA:1573 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal audito... |
OMIM:619260 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy, Ataxia, Dysphagia |
OMIM:619473 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... |
OMIM:270200 |
Tenosynovial Giant Cell Tumor |
|
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness |
ORPHA:66627 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:529665 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Ck Syndrome |
|
Slender build, Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal di... |
OMIM:300831 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Retinal dysplasia |
OMIM:615771 |
Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
Osteogenesis Imperfecta, Type Xxi |
|
Osteoporosis, Recurrent fractures, Joint hypermobility |
OMIM:619131 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Pathologic fracture, Bone cyst |
OMIM:618193 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy, Ataxia |
ORPHA:370022 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy |
ORPHA:404451 |
Warburg Micro Syndrome 1 |
|
Osteoporosis, Joint hypermobility |
OMIM:600118 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Att... |
ORPHA:216866 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste... |
ORPHA:2848 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Macular degeneration, Progressive gait ataxia, Progre... |
ORPHA:284289 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Ataxia, Retinal degeneration |
OMIM:615558 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Monosomy 5P |
|
Joint hyperflexibility, Recurrent fractures, Abnormality of bone mineral density |
ORPHA:281 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Osteopenia |
OMIM:619446 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Gliosis |
OMIM:612936 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Truncal ataxia, Hypertroph... |
OMIM:252011 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Neurodegeneration, Gait disturbance, Difficulty walking, Retinal degeneration |
ORPHA:79244 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones |
ORPHA:93351 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Macular degeneration, Dysmetria, Dysphagia |
OMIM:619780 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Myopia, Rhegmatogenous retinal detachment |
OMIM:609508 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy |
OMIM:616171 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
Cranioectodermal Dysplasia |
|
Joint hyperflexibility, Osteoporosis, Craniosynostosis |
ORPHA:1515 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Gait disturbance, Retinopathy, Ataxia |
ORPHA:578 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Pulmonary arterial hypertension, Brain atrophy |
OMIM:619059 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e... |
OMIM:610967 |
Sinding-Larsen-Johansson Disease |
|
Painless fractures due to injury, Osteochondrosis, Knee pain, Limitation of knee mobility |
ORPHA:97337 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of the vertebral bod... |
ORPHA:1486 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Pseudobulbar paralysis, Retinal flecks, Yellow/white lesions of the retin... |
ORPHA:100996 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... |
ORPHA:168491 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation |
ORPHA:873 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polydipsia, Ro... |
OMIM:615994 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... |
OMIM:615980 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Osteoporosis, Recurrent fractures, Flexion contracture of toe |
ORPHA:3409 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Pr... |
OMIM:130060 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis |
ORPHA:77296 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due to multiple fr... |
OMIM:259410 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Retinal degeneration, Ataxia, Chorioretinal coloboma |
OMIM:610688 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin ... |
ORPHA:79085 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density |
OMIM:619489 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Loss of ambulation, Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy |
ORPHA:370968 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Iris coloboma |
OMIM:616722 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Reduced bone mineral density |
ORPHA:172 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... |
ORPHA:94058 |
Osteogenesis Imperfecta, Type Ix |
|
Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased calvarial ossif... |
OMIM:259440 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, Broad t... |
OMIM:619638 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis |
OMIM:615830 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Hy... |
ORPHA:5 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Corpus callosum atrophy, Depression, Bradykinesia, Gait disturbance, Shuffling gait, Gliosis, Dys... |
OMIM:221820 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... |
ORPHA:85435 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
Huntington Disease |
|
Cerebellar atrophy, Depression, Bradykinesia, Gait ataxia, Gliosis, Neuronal loss in central nerv... |
OMIM:143100 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Limitation of joint mobility, Knee osteoarthritis, Hip osteoarthritis, Osteoarthritis... |
ORPHA:2619 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density |
ORPHA:577 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Gliosis, Abnormal autonomic nervous system physiology, Bradycardia, Neuronal loss ... |
OMIM:614498 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Joint hypermobility, Recurrent fractures, Multiple prenatal fractures |
OMIM:301014 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Restlessness |
OMIM:619517 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Generalized osteoporosis |
ORPHA:99879 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Insulin res... |
ORPHA:528 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:608474 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Aggressive behavior, Limb... |
OMIM:607136 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:617238 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Gliosis, Emo... |
OMIM:172700 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Optic atrophy, Gliosis, Dysphagia, Cerebral cortical atrophy |
OMIM:277470 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Congenital Disorder Of Glycosylation, Type Ir |
|
Osteopenia |
OMIM:614507 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Inability to walk, Pigmentary retinopathy, Left ventricular systolic dysfunction, C... |
OMIM:613156 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... |
OMIM:301033 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Joint hypermobility, Craniosynostosis |
OMIM:616721 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Broad-based gait, Ataxia, Decreased sensory nerve conduc... |
OMIM:609033 |
Aplasia Cutis Congenita |
|
Abnormality of bone mineral density |
ORPHA:1114 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis |
OMIM:257200 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis |
OMIM:615954 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Bull's eye maculopathy, Impulsivity, Optic atrophy, Depression, Choreoathe... |
ORPHA:157850 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Aggressive behavior, Gait ataxia, Depression, Gait disturbanc... |
OMIM:618369 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... |
ORPHA:83468 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis |
OMIM:266510 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, High myopia |
OMIM:619781 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation |
ORPHA:3085 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture |
OMIM:607278 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... |
OMIM:264800 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
Geroderma Osteodysplastica |
|
Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification |
ORPHA:2078 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... |
OMIM:132400 |
Coxoauricular Syndrome |
|
Reduced bone mineral density |
ORPHA:1508 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Ataxia, Abnormal atrioventricular conduction, Abnormal left ventric... |
ORPHA:3208 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Menkes Disease |
|
Joint laxity, Osteoporosis |
OMIM:309400 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Retinal coloboma, Macular coloboma |
OMIM:107550 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia |
OMIM:145750 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy |
OMIM:268020 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Ataxia, Hyperpigmentation of the skin, Akinesia, Optic atrophy, Phonic... |
OMIM:234200 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res... |
OMIM:615381 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Increased susceptibility to fractures |
OMIM:613982 |
Immunodeficiency 12 |
|
Osteoporosis, Abnormal lymphocyte count |
OMIM:615468 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Retinal dysplasia |
ORPHA:324416 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Small hand, Short foot, Hypercholestero... |
ORPHA:254531 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Joint hyperflexibility, Delayed skeletal maturation, Recurrent fractures |
ORPHA:2324 |
Exudative Vitreoretinopathy 4 |
|
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... |
OMIM:601813 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Nasu-Hakola Disease |
|
Bone cyst, Acute leukemia, Limitation of joint mobility, Reduced bone mineral density |
ORPHA:2770 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Splenomegaly, Recurrent fractures, Anemia |
OMIM:618107 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:619324 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex |
OMIM:176920 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Amish Lethal Microcephaly |
|
Decreased skull ossification, Osteoporosis, Limitation of joint mobility |
ORPHA:99742 |
Rhyns Syndrome |
|
Osteopenia, Osteoporosis |
OMIM:602152 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Osteoporosis |
OMIM:219080 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Spondylo-Ocular Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:85194 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy |
ORPHA:2518 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... |
OMIM:120330 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Osteoporosis |
OMIM:610475 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Pigmentary retinopathy, Ataxia, Depression |
ORPHA:79095 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Flexion contracture, Osteoporosis, Elbow flexion contracture, Knee flexion contracture, Camptodac... |
OMIM:214150 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hyperostosis, Knee flexion contracture, Hip contracture |
OMIM:606631 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis |
ORPHA:199354 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th... |
OMIM:259100 |
Hyperparathyroidism 4 |
|
Osteopenia |
OMIM:617343 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... |
ORPHA:371428 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma |
OMIM:212550 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulat... |
ORPHA:276575 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
Richards-Rundle Syndrome |
|
Joint stiffness, Reduced bone mineral density |
ORPHA:1399 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
OMIM:616507 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Rhyns Syndrome |
|
Osteopenia |
ORPHA:140976 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopenia, Joint hyper... |
OMIM:620210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Coloboma, Retinal degeneration |
OMIM:615249 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Patent ductus arteriosus |
ORPHA:290 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Osteoporosis |
OMIM:616200 |
Osteogenesis Imperfecta, Type Iv |
|
Reduced bone mineral density, Bowing of limbs due to multiple fractures, Recurrent fractures, Inc... |
OMIM:166220 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased... |
ORPHA:435660 |
Perrault Syndrome 4 |
|
Osteoporosis |
OMIM:615300 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... |
ORPHA:363400 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral density |
ORPHA:79239 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Dy... |
OMIM:617282 |
Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures |
ORPHA:417 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Limb ataxia, Gait ataxia, Gliosis, Cerebral cortical... |
OMIM:248500 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Recurrent fractures, Accelerated skeletal maturation, Joint stiffness, Osteoar... |
ORPHA:1822 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Ataxia, Axonal degeneration, Gait ataxia, Pigmentary ret... |
ORPHA:88628 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Restless legs, Ataxia, Congestive heart failure, Abn... |
ORPHA:94147 |
Nephronophthisis 11 |
|
Polydipsia, Retinal degeneration |
OMIM:613550 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Schindler Disease, Type I |
|
Osteopenia |
OMIM:609241 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Retinopathy, Retinal degeneration |
OMIM:252600 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Osteoporosis of vertebrae |
OMIM:156510 |
Wolfram Syndrome 1 |
|
Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Cardiomyopathy, Dysphagia |
OMIM:222300 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis |
OMIM:619718 |
Propionic Acidemia |
|
Pancytopenia, Osteoporosis, Anemia, Neutropenia, Thrombocytopenia |
OMIM:606054 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia |
OMIM:611555 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Optic atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervous s... |
OMIM:616239 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, F... |
OMIM:184260 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Abnormal cranial nerve morphology, Macular degeneration, Dysdiadoc... |
ORPHA:247234 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility |
OMIM:615220 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia |
ORPHA:89937 |
Congenital Myopathy 15 |
|
Osteopenia, Joint hypermobility, Camptodactyly |
OMIM:620161 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Ataxia, Akinesia, Congestive heart failure, Limb ataxia, Gai... |
ORPHA:48818 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Atrophy of the spinal cord, Inability to walk, Gait disturbance,... |
ORPHA:2822 |
Phakomatosis Pigmentovascularis |
|
Reduced bone mineral density |
ORPHA:2875 |
Werner Syndrome |
|
Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density |
OMIM:277700 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Recurrent fractures |
OMIM:620368 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Inability to walk, Dysmetria, Limb ataxia, Depression, Pigmentary retinopathy, Dysdiadoch... |
OMIM:617675 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:615630 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis |
ORPHA:785 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Ataxia, Heart block, Cardiomyopathy, Retinopathy |
ORPHA:773 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Decreased calv... |
OMIM:259420 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Osteoporosis |
OMIM:235200 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cardiomyopathy, Hypopigmentation of the skin,... |
ORPHA:1493 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis, Cerebellar vermis atrophy |
OMIM:213200 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis |
OMIM:239000 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Unsteady gait, Limb ataxia, Dysphag... |
ORPHA:412057 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... |
ORPHA:2715 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... |
ORPHA:280356 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:612291 |
Pseudohypoparathyroidism, Type Ia |
|
Subcutaneous ossification, Osteoporosis |
OMIM:103580 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density |
OMIM:620232 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia |
OMIM:619073 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy, Ataxia |
OMIM:608629 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Osteolytic defe... |
ORPHA:2484 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia, Retinal degeneration |
OMIM:272200 |
Grange Syndrome |
|
Increased susceptibility to fractures |
ORPHA:79094 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Limitation of joint mobility, Osteoporosis, Generalized osteoporosis |
OMIM:236200 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Rickets, Osteomalacia |
OMIM:613388 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hypermobility, Cutaneous a... |
OMIM:147060 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r... |
ORPHA:79083 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... |
OMIM:278000 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Cerebral atrophy, Euphoria, Inappropriate behavior, Gait di... |
OMIM:221770 |
Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Osteoporosis |
OMIM:615851 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Heart murmur, Cafe-au-lait spot, Cerebral cortical atrophy, Retinal degeneration |
ORPHA:166035 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Bone pain, Osteolysis, Increased susceptibility to fractures, Sclero... |
OMIM:602080 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold |
OMIM:108145 |
Kearns-Sayre Syndrome |
|
Ataxia, Pigmentary retinopathy, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia |
OMIM:530000 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy |
ORPHA:436245 |
Xp21 Deletion Syndrome |
|
Joint laxity, Osteoporosis, Reduced bone mineral density |
ORPHA:261476 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Cataract 21, Multiple Types |
|
Retinal detachment, Macular hypoplasia, Iris coloboma |
OMIM:610202 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Rickets |
OMIM:211600 |
Cantu Syndrome |
|
Osteoporosis |
OMIM:239850 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Pigmentary retinopathy, Lethargy, Arrhythmia |
OMIM:609015 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Osteoporosis |
OMIM:610489 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia |
OMIM:619445 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Joint hypermobility, Reduced bone mineral density |
OMIM:619115 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Bowing of the long bones |
ORPHA:199276 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Iris coloboma, Congestive heart failure |
OMIM:253250 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Iris coloboma, Optic disc coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:602499 |
Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis |
OMIM:612462 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi... |
OMIM:618000 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis |
ORPHA:73272 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Abnormal cardiovascular system physiology, Depressio... |
ORPHA:886 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia |
OMIM:300857 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonadotropic hypogonadi... |
ORPHA:79237 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... |
OMIM:251450 |
Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy |
OMIM:614959 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Reduced bone mineral density |
ORPHA:466926 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Abnormal fingertip morphology, Hyperlipidemia, Insulin resistance, Osteolytic defects... |
ORPHA:90154 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Osteosarcoma |
|
Pathologic fracture, Osteolysis |
ORPHA:668 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Depress... |
ORPHA:275872 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Short toe, Hypohidrosis, Delayed puberty, Hype... |
ORPHA:633 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... |
ORPHA:93356 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Thrombocytopenia |
OMIM:613990 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... |
ORPHA:94068 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Limitation of joint mobility, Radioulnar synostosis, Abnormality of bone... |
ORPHA:2741 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... |
OMIM:177850 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Depressi... |
OMIM:105550 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... |
OMIM:307800 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Recurrent fractures, Joint laxity, Increased susceptibility to fractures |
OMIM:610968 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... |
ORPHA:2796 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia |
OMIM:224230 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
19P13.3 Microduplication Syndrome |
|
Osteoporosis |
ORPHA:447980 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Adrenomyodystrophy |
|
Reduced bone mineral density |
ORPHA:977 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Flexion contracture |
ORPHA:157965 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Pigm... |
ORPHA:502423 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture |
OMIM:614438 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Dysmetria, Gait ataxia, Bradykinesia, Depression, Gait disturba... |
ORPHA:157941 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retino... |
OMIM:610651 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... |
OMIM:615160 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Inability to walk, Optic atrophy, Gliosis, ... |
OMIM:617193 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Pigmentary retinopathy, Cardiomyopathy, Tip-to... |
ORPHA:746 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Shoulder flexion contracture, Osteoporosis, Joint contracture of the hand, Wrist... |
OMIM:255800 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
Coloboma, Ocular, Autosomal Recessive |
|
Optic disc coloboma, Retinal coloboma, Iris coloboma |
OMIM:216820 |
Variant Abeta2M Amyloidosis |
|
Knee pain, Pathologic fracture, Multiple bony cystic lesions, Wrist pain |
ORPHA:314652 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures |
ORPHA:2772 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Anorexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... |
ORPHA:1969 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatic ... |
ORPHA:2348 |
Dietary Iron Overload Disease |
|
Osteoporosis |
ORPHA:139507 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia |
OMIM:612301 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... |
OMIM:166200 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Gliosis |
OMIM:613002 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L... |
OMIM:127550 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Osteoporosis |
OMIM:617190 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... |
ORPHA:848 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Splenomegaly, Calvarial hyperostosis, Anemia of inadequate production |
OMIM:612714 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy, Hypertension |
ORPHA:110 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Decreased cir... |
ORPHA:276556 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... |
OMIM:615222 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:2326 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Inability to walk, Optic atrophy, Dysmetria, Depression, Gait disturbance, Gl... |
ORPHA:845 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Abnormal T cell morphology |
OMIM:215250 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Osteoporosis |
ORPHA:91348 |
Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration |
ORPHA:168549 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly |
ORPHA:432 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Osteoporosis of vertebrae |
ORPHA:95619 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Short Syndrome |
|
Enlarged epiphyses, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance,... |
OMIM:269880 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Cerebral atrophy, Tip-toe gait, Abnormal optic nerve morphology, G... |
ORPHA:83629 |
Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures |
OMIM:304700 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Osteoporosis, Lambdoidal craniosynostosis |
OMIM:615398 |
Lowry-Maclean Syndrome |
|
Osteopenia, Osteoporosis, Craniosynostosis |
ORPHA:2409 |
Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis, Dysphagia |
OMIM:225753 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Axonal degeneration, Gait disturbance, Gliosis |
OMIM:604484 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Renal Coloboma Syndrome |
|
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia |
ORPHA:1475 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Aggressive behavior, Retinal degeneration, Gait ataxia |
OMIM:618479 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Small hand, Short... |
OMIM:616222 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures |
ORPHA:52430 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Ataxia, Optic atrophy, Dysmetria, Depression, Pigmentary retinopathy, Rod-cone dystrophy, Spastic... |
ORPHA:96180 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Ataxia, Aganglionic megacolon, Hypera... |
OMIM:209900 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Brittle Cornea Syndrome |
|
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures |
ORPHA:90354 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Hypertrophic cardiomyopathy |
ORPHA:436271 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ... |
OMIM:112240 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling |
OMIM:614105 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Bowing of the long bones, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose... |
ORPHA:2088 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Accelerated skeletal maturation, Reduced bone mineral density, Increased suscep... |
ORPHA:561 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Pancytopenia, Abnormally low T cell receptor excision circle level |
OMIM:617341 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumba... |
OMIM:230600 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Craniosynostosis |
OMIM:614732 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyper... |
ORPHA:263455 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Delayed epiphyseal ossificati... |
ORPHA:91 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Pathologic fra... |
OMIM:612199 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Anorexia, P... |
ORPHA:394 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Reduced bone mineral density |
ORPHA:2617 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
Pituitary Adenoma 4, Acth-Secreting |
|
Osteoporosis |
OMIM:219090 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Deviation of finger, Increased circulatin... |
ORPHA:1227 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint stiffness, Splenomegaly, Osteoporosis, Arthritis, Stiff interphalangeal joints |
ORPHA:465508 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contractures |
OMIM:620351 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Tapered finger, Small hand, Type II diabetes mellitus, Short clavicles, Hypercholesterolemia |
ORPHA:401923 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis |
OMIM:212750 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n... |
OMIM:608154 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
X Small Rings |
|
Joint laxity, Osteoporosis, Reduced bone mineral density |
ORPHA:96201 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Pulmonary embolism, Atrophy of the spinal cord, Dilated cardiomyopathy,... |
ORPHA:79282 |
Cardiofaciocutaneous Syndrome 3 |
|
Reduced bone mineral density |
OMIM:615279 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Flexion contracture, Multiple prenatal fractures |
OMIM:271225 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Reduced bone mineral density |
ORPHA:834 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Gaucher Disease, Type I |
|
Macular atrophy, Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, ... |
OMIM:230800 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D... |
ORPHA:280365 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... |
ORPHA:2126 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Cerebral cortical atrophy |
ORPHA:2510 |
Cerebrotendinous Xanthomatosis |
|
Osteoporosis |
OMIM:213700 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex |
OMIM:309583 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Myocardial infarction, Depression, Gliosis, Gait disturbance, Abnormal repetitive mannerisms, Sel... |
ORPHA:457240 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Myeloid leukemia, Anemia |
OMIM:614742 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
ORPHA:171433 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Rickets |
OMIM:607765 |
Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density |
ORPHA:2611 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density |
ORPHA:243 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cardiac arrest, Cerebral atrophy, Hypertrophic cardiomyopathy, Gliosis, Brain... |
OMIM:604377 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Depression, Pseudobulbar paralysis, Gliosis, Autonomic bladder d... |
OMIM:169500 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system |
ORPHA:204 |
Macs Syndrome |
|
Joint laxity, Osteoporosis, Joint hypermobility |
OMIM:613075 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Progressive Supranuclear Palsy |
|
Impulsivity, Unsteady gait, Depression, Bradykinesia, Falls, Gliosis, Dysphagia, Neuronal loss in... |
ORPHA:683 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening |
OMIM:617994 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:253000 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Precocious puberty, Small hand, Short foot, Hypercholestero... |
ORPHA:96184 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Splenomegaly, Flexion contracture, Osteoporosis |
OMIM:613327 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
Monosomy 13Q34 |
|
Hypercalcemia, Postaxial hand polydactyly, Insulin resistance, Postaxial foot polydactyly, Hepati... |
ORPHA:96168 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Abnormal enchondral ossification |
ORPHA:93299 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Down-sloping shoulders, Coxa valga, Hyperli... |
OMIM:248370 |
Dent Disease |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Truncal ataxia, Hypertrophic cardiomyopathy |
OMIM:220110 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Neurodegeneration, Cher... |
ORPHA:309246 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616867 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Increased susceptibility to fra... |
ORPHA:2909 |
Lysinuric Protein Intolerance |
|
Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Thrombocyt... |
OMIM:222700 |
Cantú Syndrome |
|
Osteoporosis |
ORPHA:1517 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Inability to walk, Optic atrophy,... |
ORPHA:404454 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Impulsivity, Cerebellar gliosis, Unsteady gait, Optic ... |
ORPHA:35069 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia |
OMIM:608747 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Cerebellar gliosis, Cerebral atrophy, Gliosis, Basal ganglia gliosis |
ORPHA:79243 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Hypertension, Telangiectasia |
OMIM:219250 |
Senior-Loken Syndrome 8 |
|
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy |
OMIM:616307 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Bone pain, Synovitis, Increas... |
ORPHA:77297 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Osteoporosis, Joint stiffness |
OMIM:253010 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Reduced bone mineral density |
ORPHA:1414 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... |
ORPHA:91495 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Osteoporosis, Gout, Neutropenia |
OMIM:232220 |
Glycogen Storage Disease Ia |
|
Osteoporosis, Gout |
OMIM:232200 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Maffucci Syndrome |
|
Osteolysis, Bone pain, Recurrent fractures |
ORPHA:163634 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroo... |
ORPHA:90153 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Generalized osteop... |
ORPHA:2959 |
Knobloch Syndrome |
|
Retinal detachment, Patent ductus arteriosus, Abnormal vitreous humor morphology, Macular degener... |
ORPHA:1571 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy |
OMIM:604218 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... |
OMIM:612852 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Reduced bone mineral density |
ORPHA:2983 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Bone pain, Recurrent fractures |
ORPHA:319487 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dilated cardiomyopathy, Pigmentary retinopathy, Lethargy, Hypertrophic car... |
ORPHA:71212 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Iris transillumination defect |
OMIM:225200 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Myopia, Retinal neovascularization |
OMIM:619074 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Recurrent fractures, Joint hypermobility |
OMIM:619120 |
Cooper-Jabs Syndrome |
|
Joint hyperflexibility, Camptodactyly of finger, Reduced bone mineral density |
ORPHA:1488 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis |
OMIM:302905 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility |
ORPHA:363705 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ... |
OMIM:259770 |
Glycerol Kinase Deficiency |
|
Pathologic fracture, Osteoporosis |
OMIM:307030 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia, Short 5th metacarpal |
ORPHA:66518 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Abnormal auditory evoked potenti... |
ORPHA:909 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Bowing of the long bones, Generalized ... |
OMIM:613848 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Osteoporosis, Anemia |
ORPHA:79240 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Gliosis, Abnormal astrocyte morphology |
ORPHA:168486 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Osteoporosis, Increased susceptibility to fractures |
ORPHA:189427 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... |
OMIM:216550 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth... |
OMIM:608654 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Silver-Russell Syndrome |
|
Sandal gap, Precocious puberty, Insulin resistance, Hyperhidrosis, Abnormal appendicular skeleton... |
ORPHA:813 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Apl... |
ORPHA:221016 |
Mccune-Albright Syndrome |
|
Pathologic fracture, Polyostotic fibrous dysplasia, Craniofacial hyperostosis |
OMIM:174800 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock |
ORPHA:742 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Joint hyperflexibility, Reduced bone mineral density |
ORPHA:1185 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Pathologic fracture, Bone pain, Increased susceptibility to fract... |
ORPHA:352540 |
Farber Disease |
|
Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthritis, Anemia |
ORPHA:333 |
Leigh Syndrome |
|
Cerebellar atrophy, Ataxia, Congestive heart failure, Optic atrophy, Choreoathetosis, Athetosis, ... |
ORPHA:506 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia |
OMIM:614837 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysphagia, Bradykinesia, Progressive cerebellar ataxia, ... |
OMIM:109150 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Cleidocranial Dysplasia |
|
Decreased skull ossification, Osteoporosis, Recurrent fractures |
ORPHA:1452 |
Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Neurodegeneration, Retinal degeneration |
OMIM:607014 |
Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration, Papilledema, Abnormality of retinal pigmentation, Congestive heart failure |
OMIM:309900 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggressive behavior... |
ORPHA:580 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Met... |
ORPHA:221008 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Unsteady gait, Subdural hemorrhage, Retina... |
ORPHA:90324 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Dysphagia |
OMIM:201550 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Joint stiffness, Reduced bone mineral density |
ORPHA:1979 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypersexuality, Optic atrophy, Atrioventricular block... |
ORPHA:581 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Anemia |
ORPHA:264580 |
Short Syndrome |
|
Insulin resistance, Brachydactyly, Diabetes mellitus, Short palm |
ORPHA:3163 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Glioma, Subretinal pigment epithelium hemorrhage, Hyphema, R... |
ORPHA:790 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb... |
ORPHA:79319 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis |
ORPHA:436 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur... |
ORPHA:1900 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... |
OMIM:608940 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Wrist flexion contracture, Recurrent fractures |
OMIM:609465 |
Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Cuboid-shaped vertebral bodies, Slender long bone, Polydac... |
OMIM:612731 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis |
OMIM:300998 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Retinal pigment epithelial mottling, Dilated cardiomyopathy, Dysmetria,... |
OMIM:607459 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Increase... |
ORPHA:2769 |
Norrie Disease |
|
Retinal detachment, Aggressive behavior, Optic atrophy, Retinal dysplasia, Retinal fold |
OMIM:310600 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Finger joint contracture |
OMIM:212112 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Joint hypermobility, Osteoporosis, Elbow flexi... |
OMIM:245600 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Cerebral atrophy, Gait ataxia, ... |
OMIM:618321 |
Orofaciodigital Syndrome Ix |
|
Retinal coloboma, Brain atrophy |
OMIM:258865 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Insulin resistance, Limb undergrowth, Clinodactyly, Abnormal circulating lipid... |
OMIM:616541 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Hepatomegaly, Acute hepatic failure, Neonatal insulin-depend... |
ORPHA:1667 |
Cockayne Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... |
ORPHA:191 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Depression, Bradykinesia, Agitation, Shuffling gait, Low frustration toler... |
ORPHA:411602 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:398079 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Osteoporosis, Anemia, Hepatosplenomegaly |
OMIM:619487 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia |
ORPHA:95159 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Visual loss, Vitritis, Central retinal artery occlusion, Retinal vasculitis, ... |
OMIM:107320 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Gliosis, Cerebral atrophy |
OMIM:615095 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Parkinson Disease 1, Autosomal Dominant |
|
Depression, Bradykinesia, Gait disturbance, Shuffling gait, Gliosis, Dysphagia, Loss of ambulatio... |
OMIM:168601 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Depression, Gliosis, Emotional lability, Hypertroph... |
OMIM:124000 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia |
OMIM:214110 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Gait disturbance, Gliosis, Depression |
OMIM:300957 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Premature Aging Syndrome, Penttinen Type |
|
Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Joint ... |
OMIM:601812 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures |
ORPHA:97290 |
Prolactinoma |
|
Osteopenia, Osteoporosis |
ORPHA:2965 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Patent ductus arteriosus, Telangiectasia |
OMIM:612582 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Osteo... |
OMIM:608612 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Decreased calvarial ossification, Unossified vertebral bodies, Increased suscep... |
OMIM:241500 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Advanced ossification of carpal bones, Increased susceptibility to frac... |
OMIM:615349 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis |
OMIM:613328 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis |
ORPHA:2232 |
Dermatitis Herpetiformis |
|
Bone pain, Recurrent fractures |
ORPHA:1656 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Retinal detachment, Abnormal optic chiasm morphology, Broad-based gait, Ata... |
ORPHA:268261 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Elevated circu... |
ORPHA:263501 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar muscle atrophy, Flat capital fe... |
OMIM:612350 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... |
ORPHA:485 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Congestive heart failure, Dilated cardiomyopathy, Pigmentary retinopathy... |
OMIM:203800 |
Cinca Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Reduced bone mineral density, Abnormal gr... |
ORPHA:1451 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Self-injurious behavior, Gait disturbance, Ce... |
ORPHA:192 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
Osteogenesis Imperfecta, Type Ii |
|
Multiple prenatal fractures, Recurrent fractures, Absent ossification of calvaria |
OMIM:166210 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Delayed proximal femoral... |
ORPHA:90674 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atrophy, Gait ataxia, Pigme... |
ORPHA:255210 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
Primary Biliary Cholangitis |
|
Osteoporosis |
ORPHA:186 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Retinal degeneration |
OMIM:208500 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Inability to walk, Pat... |
ORPHA:505248 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Femur fracture, Short clavicles |
OMIM:619322 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Decreased calvarial ossification, Recurrent fractures, Joint hypermobility |
OMIM:616229 |
Glass Syndrome |
|
Generalized osteoporosis, Camptodactyly |
OMIM:612313 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Hypermelanotic macule, Optic atrophy, Pigmentary ret... |
ORPHA:90321 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... |
ORPHA:466768 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Melas |
|
Wolff-Parkinson-White syndrome, Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, O... |
ORPHA:550 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Telangiectasia |
OMIM:266270 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Coronal craniosynostosis, Recurrent fractures, Lambdoidal craniosynostosis |
OMIM:616294 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures |
OMIM:312150 |
Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac... |
OMIM:601559 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr... |
OMIM:102500 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Coloboma, Retinal dys... |
OMIM:236670 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Coloboma, Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hypochromic anemia, Abnormality of neutrophils, Reduced bone mineral density |
ORPHA:2720 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Multiple prenatal fractures, Flexion contracture, Decreased skull o... |
OMIM:616897 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia, Reduced bone mineral density |
ORPHA:935 |
Dyskeratosis Congenita |
|
Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, An... |
ORPHA:1775 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... |
OMIM:235555 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Osteoporosis |
ORPHA:398069 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
ORPHA:739 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo |
OMIM:240300 |
Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Rin2 Syndrome |
|
Joint hypermobility, Increased susceptibility to fractures |
ORPHA:217335 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Platyspondyl... |
OMIM:605822 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Abnormality of skin ... |
ORPHA:193 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Osteoporosis |
ORPHA:98754 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Gliosis, Neuronal loss ... |
OMIM:607485 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Decreased calvarial ossification, C... |
ORPHA:313855 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly |
OMIM:249420 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Grange Syndrome |
|
Recurrent fractures, Increased susceptibility to fractures |
OMIM:602531 |
Alport Syndrome |
|
Macular degeneration, Hypertension, Retinal flecks, Dysphagia, Anterior lenticonus |
ORPHA:63 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Joint hypermobility, Increased susceptibility to fractures |
OMIM:619752 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Limb pain, Osteomyelitis, Pathologic fracture |
ORPHA:36386 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Bone pain, Osteolysis, Synovitis... |
ORPHA:793 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Coloboma, Hypoplasia of the retina, Retinal dysplasia, Retinal de... |
OMIM:253280 |
Trichothiodystrophy |
|
Gait ataxia, Macular degeneration, Numerous pigmented freckles, Cardiomyopathy, Diffuse cerebella... |
ORPHA:33364 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Decreased response to growth hormone stimulation test, Precocious puberty, Insulin re... |
ORPHA:96182 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures |
OMIM:253290 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... |
ORPHA:89936 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Osteoporosis |
ORPHA:98793 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp... |
ORPHA:2658 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Pathologic fr... |
ORPHA:77293 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad... |
ORPHA:536467 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibr... |
ORPHA:562 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholesterolemia, Clin... |
OMIM:616730 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Osteoporosis |
ORPHA:177904 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Epista... |
ORPHA:167 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility |
ORPHA:2314 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Osteoporosis |
ORPHA:177901 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormality of the thyroid gland, Short palm, Hypercholesterolemia, Brachyd... |
OMIM:182290 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Osteoporosis, Joint laxity |
OMIM:225400 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Menkes Disease |
|
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility |
ORPHA:565 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Splenomegaly, Insulin resistance, Hypothyroidism |
ORPHA:3452 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Broad-based gait, Ataxia, Congestive heart failure, Dysmetri... |
ORPHA:14 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Large hands, Hepatic fibrosis, Pancreatic isle... |
OMIM:246200 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Postaxial polydactyly, Postaxial hand polydactyly, Preaxial foot p... |
OMIM:619471 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Chronic neutropenia, Osteoporosis, Gout, Increased susceptibility to fractures, Abnor... |
ORPHA:79259 |
Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane... |
OMIM:277900 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Joint hyperflexibility, ... |
ORPHA:955 |
Occipital Horn Syndrome |
|
Joint laxity, Capitate-hamate fusion, Osteoporosis, Limited knee extension, Limited elbow extension |
OMIM:304150 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Cerebral cortical atrophy, Lethargy |
OMIM:277400 |
Intellectual Disability, Buenos-Aires Type |
|
Reduced bone mineral density |
ORPHA:3079 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Brushfield spots, Patent ductus arteriosus, Unsteady gait, Pigmentary retinopa... |
OMIM:214100 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
Leprechaunism |
|
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Large ha... |
ORPHA:508 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... |
OMIM:216400 |
Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis |
OMIM:176270 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Hyperactivity, Glioma, Retinal pigment epithelial mottling, Progress... |
OMIM:251260 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... |
ORPHA:3077 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Hip subluxation, Wide anterior fontanel, Squared iliac bones, Femoral bowing, G... |
OMIM:618853 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxia, Astrocytoma, Hypopigm... |
ORPHA:636 |
Tbck-Related Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:488632 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Joint hypermobility, Increased susceptibility to fractures |
ORPHA:357058 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Drumstick term... |
ORPHA:541423 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Brushfield spots, Optic nerve ... |
OMIM:614866 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... |
OMIM:614613 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Osteoporosis, Reduced bone mineral density |
ORPHA:90796 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Elbow ankylosis |
ORPHA:83 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Ultra-low vision with no light pe... |
OMIM:221900 |
Cystic Fibrosis |
|
Osteopenia, Osteoporosis |
ORPHA:586 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed pubic bone ossification, Delayed ossification of carpal bones |
OMIM:620099 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia... |
ORPHA:358 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Cerebral atrophy, Granulovacuolar degeneration, Bradykinesia, Irritability, Dysphagia, ... |
OMIM:601104 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hypophosphatemic rickets, Recurrent fractures |
OMIM:163200 |
X-Linked Intellectual Disability, Snyder Type |
|
Osteoporosis, Recurrent fractures, Camptodactyly |
ORPHA:3063 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures |
ORPHA:453510 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Spinal canal stenosis, Scoliosis, Broad ... |
OMIM:277600 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Inability to walk, Optic atrophy, Coloboma, Bradycardia |
ORPHA:97297 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Osteoporosis, Reduced bone mineral density |
ORPHA:168558 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypogly... |
OMIM:602579 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis... |
OMIM:271640 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Pigmentary retinopathy, Histiocytoid cardiomyopathy, Arrhythmia, ... |
OMIM:309801 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, ... |
OMIM:618460 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Atrophy/Degeneration aff... |
OMIM:614946 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Osteoporosis, Reduced bone mineral density |
ORPHA:289548 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Pathologic fracture, Knee flexion contracture |
OMIM:156400 |
Lysinuric Protein Intolerance |
|
Osteopenia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Pat... |
ORPHA:470 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis |
ORPHA:99880 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Histi... |
ORPHA:171 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... |
OMIM:193700 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Polydipsia |
ORPHA:411629 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... |
OMIM:615777 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Delayed skeletal maturation, Bone pain, Osteolysis, Increased sus... |
ORPHA:77261 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Congestive heart failure, Cardiomyopathy, Gliosis, Dysphagia, Arrhythmia |
ORPHA:26791 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ili... |
ORPHA:1427 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... |
ORPHA:18 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... |
OMIM:608594 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Parathyroid Carcinoma |
|
Osteoporosis |
ORPHA:143 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Osteoporosis |
OMIM:203700 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Macular edema, Visual field defec... |
ORPHA:247691 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ... |
ORPHA:800 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Anemia, Reduced bone mineral density |
OMIM:619377 |
Rothmund-Thomson Syndrome, Type 2 |
|
Osteoporosis |
OMIM:268400 |
Pierson Syndrome |
|
Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ... |
OMIM:609049 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage, Gait disturbance, Gliosis |
ORPHA:88619 |
Lissencephaly, X-Linked, 2 |
|
Gliosis |
OMIM:300215 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Gliosis, Difficulty walking |
ORPHA:280210 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Chorioretinal atrophy, Retina... |
OMIM:612109 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Clinodactyly of the 5th finger, Short tibia, Short phalanx of finger... |
OMIM:268305 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Ab... |
ORPHA:666 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Flared metaphysis, Prominent interphalangeal joints, Sh... |
OMIM:215150 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Osteoporosis |
ORPHA:254892 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... |
OMIM:612394 |
Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth, Cone-shaped ... |
ORPHA:439822 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Osteoporosis, Joint hypermobility |
ORPHA:536545 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Brittle Cornea Syndrome 2 |
|
Recurrent fractures, Joint hypermobility |
OMIM:614170 |
Joubert Syndrome 5 |
|
Rod-cone dystrophy, Retinal coloboma, Ataxia, Aggressive behavior |
OMIM:610188 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Partial duplication of thumb phalanx, Hypercholesterolemia, Clinod... |
OMIM:618348 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Granulovacuolar degeneration, Bradykinesia, Irritability, Falls, Gait imbalance, Gliosi... |
OMIM:609454 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe generalized osteoporosis, Knee flexion contracture |
OMIM:210730 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Gliosis, Cerebral atrophy, Dysphagia |
OMIM:619847 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... |
OMIM:619727 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Avascular necrosis of the capital femoral epiphysis, Limitation of joint mobili... |
ORPHA:93315 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Thrombocytopenia |
OMIM:305000 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Chorioretinal dy... |
ORPHA:2556 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Hypertriglyceridemia, Precocious puberty, Hand polydactyly, Delayed puberty, Clin... |
ORPHA:819 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... |
OMIM:131300 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Generalized joint laxity, Increased susceptibility to fractures |
ORPHA:251028 |
Megalocornea-Intellectual Disability Syndrome |
|
Tapered finger, Metatarsus valgus, Hypercholesterolemia, Hypothyroidism, Genu varum |
ORPHA:2479 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
ORPHA:171430 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility |
ORPHA:558 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... |
ORPHA:273 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cyclopia, Iris coloboma |
ORPHA:3380 |
Mucopolysaccharidosis Type 4 |
|
Joint hyperflexibility, Reduced bone mineral density |
ORPHA:582 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Flexion contracture, Osteoporosis |
ORPHA:365 |
Full Nf2-Related Schwannomatosis |
|
Blindness, Remnants of the hyaloid vascular system, Amblyopia, Retinal hamartoma, Epiretinal memb... |
ORPHA:637 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Arachnodactyly, Primary hypothyroidism, Genu valgum |
OMIM:249310 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
Congenital Disorder Of Deglycosylation 1 |
|
Osteoporosis |
OMIM:615273 |
Dpagt1-Cdg |
|
Flexion contracture, Osteoporosis, Anemia, Camptodactyly |
ORPHA:86309 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Osteoporosis, Sagittal craniosynostosis |
OMIM:218330 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali... |
ORPHA:536471 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Pulmonary... |
ORPHA:2785 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Hear... |
ORPHA:217085 |
Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis |
ORPHA:96253 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, An... |
ORPHA:79408 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616866 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ... |
ORPHA:30391 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, S... |
ORPHA:77258 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Hear... |
ORPHA:217093 |
Greenberg Dysplasia |
|
Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, Patchy variatio... |
OMIM:215140 |
Wilson Disease |
|
Arthritis, Bone pain, Pathologic fracture |
ORPHA:905 |
Cockayne Syndrome B |
|
Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the... |
OMIM:133540 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Subperiosteal bone formation, Fractured rib, Recurrent fractures |
OMIM:618188 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... |
ORPHA:284984 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Osteoporosis |
ORPHA:91347 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Steinfeld Syndrome |
|
Retinal coloboma, Iris coloboma |
OMIM:184705 |
46,Xy Partial Gonadal Dysgenesis |
|
Osteoporosis |
ORPHA:251510 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Cartilage-Hair Hypoplasia |
|
Heart block, Abnormality of retinal pigmentation, Aganglionic megacolon, Cardiomyopathy |
ORPHA:175 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia |
OMIM:619525 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Say-Barber-Miller Syndrome |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy |
ORPHA:3132 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... |
OMIM:263700 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Anorexia, Macular... |
ORPHA:91500 |
Kleefstra Syndrome Due To A Point Mutation |
|
Self-injurious behavior, Gliosis |
ORPHA:261652 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Elbow flexion contract... |
OMIM:608328 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly |
OMIM:600430 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurr... |
OMIM:606721 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Lower-limb joint contracture, Osteoporosis |
ORPHA:459070 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Alkaptonuria |
|
Arthritis, Osteoarthritis, Joint stiffness, Reduced bone mineral density |
ORPHA:56 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Aggressive behavior |
OMIM:606688 |
Blue Rubber Bleb Nevus |
|
Pathologic fracture |
OMIM:112200 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ... |
OMIM:613658 |
Vici Syndrome |
|
Hypopigmentation of hair, Macular atrophy, Albinism, Congestive heart failure, Dilated cardiomyop... |
OMIM:242840 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Craniosynostosis |
ORPHA:251004 |
Wolf-Hirschhorn Syndrome |
|
Osteoporosis |
ORPHA:280 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Bone pain |
OMIM:259900 |
Cole-Carpenter Syndrome |
|
Joint hyperflexibility, Recurrent fractures |
ORPHA:2050 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Gliosis |
ORPHA:3240 |
Kallmann Syndrome |
|
Delayed skeletal maturation, Recurrent fractures, Reduced bone mineral density |
ORPHA:478 |
Hardikar Syndrome |
|
Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Thrombocytopenia |
OMIM:301068 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Osteoporosis, Anemia |
ORPHA:79404 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Tracheobronchomalacia, Recurrent fractures, Tracheomalacia |
ORPHA:140 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density |
ORPHA:428 |
Martsolf Syndrome 1 |
|
Short metacarpal, Hypogonadotropic hypogonadism, Metatarsus adductus, Slender ulna, Short toe, Os... |
OMIM:212720 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Hand clenching, Clubbing of to... |
OMIM:620083 |
Familial Dysautonomia |
|
Avascular necrosis, Osteolysis, Recurrent fractures |
ORPHA:1764 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Irritability, Diffuse cerebral atrophy, Gliosis, Cerebral atrophy |
OMIM:252160 |
Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Arthritis, Anterior beaking of lumbar vertebrae, Sc... |
ORPHA:93 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Facial palsy, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Heart murmur, Ir... |
OMIM:615873 |
Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigmen... |
OMIM:219800 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short metacarpal, Toe syndactyly, Short metatarsal, Small hand, Small finger, S... |
OMIM:170390 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone |
ORPHA:2905 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Fair hair, Retinal dystrophy, Ataxia, Macular degeneration, Hypertension, Rod-cone dystrophy, Att... |
OMIM:266920 |
Pearson Syndrome |
|
Ataxia, Cardiac conduction abnormality, Pigmentary retinopathy, Cardiomyopathy, Dysphagia, Cafe-a... |
ORPHA:699 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand |
OMIM:610168 |
Multiple Myeloma |
|
Osteopenia, Pathologic fracture, Bone pain |
ORPHA:29073 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Elevated ... |
OMIM:210250 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... |
ORPHA:90652 |
Hamamy Syndrome |
|
Osteopenia, Recurrent fractures, Craniosynostosis |
OMIM:611174 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Femoral bowing, He... |
OMIM:615415 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Falls, Gliosis, Difficulty walking |
OMIM:618222 |
H Syndrome |
|
Delayed skeletal maturation, Osteolysis, Recurrent fractures, Camptodactyly |
ORPHA:168569 |
Osteoglophonic Dysplasia |
|
Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi... |
OMIM:166250 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand |
OMIM:182250 |
Wiedemann-Steiner Syndrome |
|
Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Short toe, Small ... |
OMIM:605130 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint laxity, Recurrent fractures, Craniosynostosis, Accelerated skeletal maturation,... |
OMIM:130070 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hyperproteinemia, Increased circulating re... |
ORPHA:90041 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones |
ORPHA:97685 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Recurrent fractures |
OMIM:606056 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing |
ORPHA:85165 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Anemia, Osteoporosis, Joint laxity |
ORPHA:438213 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Ataxia, Gliosis, Truncal ataxia, Cerebral cortical atrophy |
OMIM:301072 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypoplasia of the ulna, Hypertriglyceridemia, Hepatocellular carci... |
OMIM:118450 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... |
OMIM:620076 |
Cutis Marmorata Telangiectatica Congenita |
|
Reduced bone mineral density |
ORPHA:1556 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... |
ORPHA:667 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Painless fractures due to injury, Osteomyelitis leading to amputation due to slow healing fractur... |
OMIM:256810 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation |
OMIM:259775 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Arthritis, T ly... |
OMIM:619381 |
Bloom Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:125 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... |
OMIM:309000 |
Primrose Syndrome |
|
Hip contracture, Joint hypermobility, Flexion contracture, Osteoporosis, Reduced bone mineral den... |
OMIM:259050 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Corpus callosum atrophy, Gliosis |
OMIM:261515 |
Osteogenesis Imperfecta, Type Xx |
|
Multiple prenatal fractures |
OMIM:618644 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... |
OMIM:258480 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Patent ductus arteriosus, Remnants of the hyaloid vascular system |
OMIM:620185 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Bone pain, Recurrent fractures |
ORPHA:416 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis |
ORPHA:35687 |
Pseudohypoparathyroidism Type 1A |
|
Hyperostosis frontalis interna, Ectopic ossification, Increased bone mineral density, Reduced bon... |
ORPHA:79443 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures |
OMIM:610682 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... |
ORPHA:3464 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Patent ductus arteriosus, Abnormality of skin pigmentation, Gliosis, Neuronal loss in central ner... |
OMIM:300868 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Osteoporosis, Reduced bone mineral density |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Osteoporosis, Reduced bone mineral density |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Osteoporosis, Reduced bone mineral density |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Osteoporosis, Reduced bone mineral density |
ORPHA:881 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... |
OMIM:101800 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... |
ORPHA:353281 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Sudden... |
ORPHA:744 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Craniosynostosis, Limitation of joint mobility, Camptodactyly, Arthrogryposis multipl... |
OMIM:252500 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ... |
OMIM:143095 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis, Cerebral atrophy |
OMIM:252150 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Osteoporosis of vertebrae |
ORPHA:90695 |
Acromelic Frontonasal Dysostosis |
|
Myopia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures |
OMIM:239200 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand |
OMIM:300845 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Preaxial hand polydactyly, Enlarged metaphyses, Abnorma... |
ORPHA:508533 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density |
ORPHA:79444 |
Rhombencephalosynapsis |
|
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
Desmosterolosis |
|
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
Hallermann-Streiff Syndrome |
|
Tracheomalacia, Recurrent fractures, Reduced bone mineral density |
ORPHA:2108 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis |
ORPHA:99889 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Syndactyly, Abnormal pelvis bone morphology, Aplasia... |
ORPHA:3472 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Macular atrophy |
OMIM:619418 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Marshall-Smith Syndrome |
|
Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi... |
OMIM:602535 |
Craniopharyngioma |
|
Increased susceptibility to fractures |
ORPHA:54595 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Coxa valga, Insulin resistance, Hip dislocation, Ost... |
ORPHA:740 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Flexion contracture, Osteoporosis, Radioulnar synostosis |
OMIM:194050 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Pathologic fracture |
OMIM:614231 |
Phakomatosis Pigmentokeratotica |
|
Hypophosphatemic rickets, Coloboma |
ORPHA:2874 |
Keppen-Lubinsky Syndrome |
|
Flexion contracture, Increased susceptibility to fractures |
ORPHA:435628 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Coloboma, Optic nerve hypoplasia |
OMIM:610125 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Femoral bowing, Decreased circulating renin level, Hyponatr... |
OMIM:201750 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy... |
ORPHA:904 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... |
OMIM:619534 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis |
OMIM:610644 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Hip dislocation, Genu valgum, Abnormal circulat... |
ORPHA:534 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Truncal ataxia, Dysmetria, Hypertension, Mitral regurgitation, Gliosis, Dysphagia, Hypert... |
OMIM:220111 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy, Gliosis |
OMIM:617403 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Radial club hand, Optic disc coloboma, Coloboma, Chorioretinal coloboma, Iris c... |
ORPHA:959 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Elevated circulating growth hormone... |
ORPHA:79318 |
Proximal Renal Tubular Acidosis |
|
Reduced bone mineral density |
ORPHA:47159 |
Norrie Disease |
|
Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula... |
ORPHA:649 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Gliosis, Attention deficit hyperactivity disorder, Oral-pharyngeal dysphagia |
ORPHA:506358 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Visual loss, Patent ductus arteriosu... |
OMIM:300166 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Aplastic p... |
OMIM:276820 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Short phalanx of finger |
OMIM:208060 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd... |
OMIM:601358 |
Diets-Jongmans Syndrome |
|
Gliosis, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618846 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary... |
ORPHA:363618 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Osteoporosis of vertebrae |
ORPHA:95494 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad thumb, Brachyd... |
OMIM:616894 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Myopia, Remnants of the hyaloid vascular system, Amblyopia, Lens colobom... |
OMIM:619539 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Pathologic fracture |
ORPHA:90349 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Clinodactyly of the 5th finger, Short toe, Short phalanx of finger, Cone-shaped epiphyses of the ... |
OMIM:619269 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Ataxia, Optic atrophy, Pigmentary retinopathy, Pulmonic stenosis, Truncal ... |
ORPHA:3455 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... |
ORPHA:51608 |
Wrinkly Skin Syndrome |
|
Slender long bones with narrow diaphyses, Congenital hip dislocation, High nonceruloplasmin-bound... |
ORPHA:2834 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Limb undergrowth, Short toe, Short phalanx of finger |
OMIM:225410 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Focal Dermal Hypoplasia |
|
Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa... |
OMIM:305600 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones |
OMIM:269150 |
Aspartylglucosaminuria |
|
Joint laxity, Pathologic fracture, Delayed skeletal maturation |
OMIM:208400 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac crest, Metaphyseal wi... |
ORPHA:99646 |
Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Patellar aplasia, Inferior pubic ramus hypoplasia, R... |
OMIM:606170 |
Mowat-Wilson Syndrome |
|
Delayed skeletal maturation, Flexion contracture, Recurrent fractures, Camptodactyly |
ORPHA:2152 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Broad hallux, 2-3 toe syndactyly, Clinodactyly, Short phalanx of finger |
OMIM:614188 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Rhizomelia, Single transverse palmar crease, Mesomelic/rhizomelic lim... |
OMIM:601803 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage |
ORPHA:2924 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts |
OMIM:617875 |