Mazabraud Syndrome |
|
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones |
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 |
|
Abnormality of finger |
OMIM:187390 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:603649 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Immunodeficiency 12 |
|
Osteoporosis |
OMIM:615468 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis |
ORPHA:3294 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Retinal degeneration, Limb ataxia, Optic atrophy, Gait ataxia, Cerebellar atrophy |
OMIM:614322 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular flecks, Macular atrophy |
OMIM:600110 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Osteoporosis |
OMIM:256720 |
Brachydactyly, Type A1, D |
|
Short distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... |
OMIM:616849 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
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, 2 |
|
Macular degeneration |
OMIM:153800 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Cerebral atrophy, Retinal degeneration, Increased extraneuronal autofluorescent lipopigme... |
OMIM:204500 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteopenia, Osteoporosis, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
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 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Gait disturbance, Ataxia, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Ataxia, Abnormality of retinal pigmentation |
ORPHA:2579 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis |
OMIM:166260 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Sugarman Brachydactyly |
|
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... |
OMIM:272150 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Ataxia, Abnormality of retinal pigmentation |
ORPHA:2246 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Ataxia, Macular degeneration |
ORPHA:85334 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract... |
OMIM:551500 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, ... |
OMIM:610951 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Contractures of the large joints, Osteoporosis |
OMIM:608278 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
Winchester Syndrome |
|
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis |
OMIM:277950 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Cerebral atrophy, Retinal degeneration, Macular degeneration, Depression, Optic atrophy, ... |
OMIM:256730 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Retinal degeneration, Dysmetria, Dysdiadochokinesis, Increased neuronal autofluorescent l... |
OMIM:256731 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Morm Syndrome |
|
Aggressive behavior, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Cerebral atro... |
OMIM:204200 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Retinal pigment epithelial mottling, Corpus... |
OMIM:619389 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... |
ORPHA:1802 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Retinal degeneration |
OMIM:257970 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... |
OMIM:615072 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Retinal dysplasia |
OMIM:615771 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... |
OMIM:112700 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis |
OMIM:613606 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Ataxia, Retinal degeneration |
OMIM:225755 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:616211 |
Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Brachydactyly Type A2 |
|
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... |
OMIM:606835 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Generaliz... |
ORPHA:2790 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Hyaline Fibromatosis Syndrome |
|
Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion contractures |
OMIM:228600 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Waddling gait, Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy |
OMIM:619090 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis |
ORPHA:397685 |
Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Isolated Glycerol Kinase Deficiency |
|
Osteoporosis |
ORPHA:408 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Gout, Osteoporosis |
OMIM:610947 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... |
OMIM:608161 |
Peripheral Dysostosis |
|
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Recurrent fractures, Joint laxity, Osteoporosis |
OMIM:248010 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Osteoporosis, Reduced bone mineral density |
ORPHA:2410 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Blurred vision, Retinal ... |
ORPHA:411527 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration, Unsteady gait |
OMIM:520000 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... |
OMIM:251270 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Anemia |
ORPHA:100024 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Chorioretinal atrophy, Retinal detachment, Visual impairment, Myopia |
OMIM:600790 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... |
ORPHA:564003 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal fold, Retinal hol... |
OMIM:605750 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis |
OMIM:618234 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
Laurence-Moon Syndrome |
|
Ataxia, Pigmentary retinopathy |
OMIM:245800 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy |
OMIM:615147 |
Achromatopsia 7 |
|
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Glutathione Synthetase Deficiency |
|
Ataxia, Pigmentary retinopathy |
OMIM:266130 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Birdshot Chorioretinopathy |
|
Photophobia, Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macul... |
ORPHA:179 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... |
OMIM:613750 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:602271 |
Adamantinoma |
|
Bone pain, Pathologic fracture |
ORPHA:55881 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Visual field defect, Choroideremia, Color vision defect, Vitelliform-like macular lesions, Retina... |
ORPHA:99000 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Macular degeneration, Pigmentary retinopathy, Optic atr... |
OMIM:164500 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Osteopenia, Increased susceptibility to fractures |
OMIM:615066 |
Kearns-Sayre Syndrome |
|
Ataxia, Abnormality of retinal pigmentation |
ORPHA:480 |
Hsd10 Mitochondrial Disease |
|
Cerebral cortical atrophy, Retinal degeneration, Optic atrophy, Choreoathetosis, Aggressive behavior |
OMIM:300438 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Osteoporosis |
ORPHA:85193 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Ataxia, Retinal degeneration |
OMIM:214980 |
Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:613660 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... |
ORPHA:3152 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ... |
ORPHA:970 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation |
ORPHA:2743 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
Narp Syndrome |
|
Ataxia, Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic... |
ORPHA:644 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Reduced visual acuity, Falcifor... |
OMIM:305390 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia |
OMIM:608747 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate |
OMIM:264420 |
Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Osteoporosis |
OMIM:613849 |
Senior-Loken Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Recurrent fractures, Osteopenia |
OMIM:619884 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... |
OMIM:146300 |
Rothmund-Thomson Syndrome, Type 1 |
|
Osteoporosis |
OMIM:618625 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Osteoporosis |
OMIM:616033 |
Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Optic atrophy, Gait disturbance, Unsteady gait, Emotional lability, Lethargy |
OMIM:603896 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Oguchi Disease |
|
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy |
ORPHA:75382 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
Leigh Syndrome |
|
Ataxia, Gliosis, Pigmentary retinopathy, Optic atrophy, Emotional lability |
OMIM:256000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Shashi-Pena Syndrome |
|
Osteoporosis |
OMIM:617190 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Generalized osteoporosis, Osteoporosis |
OMIM:601220 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy |
OMIM:212550 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis |
ORPHA:2958 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy |
OMIM:617304 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... |
OMIM:133780 |
Abetalipoproteinemia |
|
Retinopathy, Ataxia, Retinal degeneration |
OMIM:200100 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Depression, Ataxia, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Visual impairment, Tractional retinal detachm... |
OMIM:613310 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Retinitis Pigmentosa 50 |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Tip-toe gait, Dege... |
OMIM:604360 |
Metatropic Dysplasia |
|
Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodact... |
ORPHA:2635 |
Irvan Syndrome |
|
Photophobia, Reduced visual acuity, Macular edema, Retinal detachment, Blurred vision, Optic atro... |
ORPHA:209943 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypogonadism, Hyp... |
ORPHA:181393 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... |
OMIM:617406 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... |
OMIM:300476 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Diabetes mell... |
OMIM:612526 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
Prieto Syndrome |
|
Osteoporosis |
OMIM:309610 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Bruck Syndrome 1 |
|
Hip contracture, Osteoporosis, Joint laxity, Elbow flexion contracture, Increased susceptibility ... |
OMIM:259450 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Recurrent fractures, Bone pain, Increased spinal bone density |
ORPHA:329475 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Juvenile Paget Disease |
|
Recurrent fractures, Coarse metaphyseal trabecularization, Cranial hyperostosis, Osteoporosis |
ORPHA:2801 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Osteoporosis |
OMIM:126550 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Osteoporosis, Splenomegaly |
ORPHA:79301 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coronal cleft vertebrae, Coarse... |
ORPHA:1952 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis |
OMIM:614838 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Rod-cone dystrophy, Retinal at... |
OMIM:610127 |
Familial Expansile Osteolysis |
|
Bone pain, Osteolysis, Thin bony cortex, Pathologic fracture |
OMIM:174810 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:252650 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Joint laxity, Osteoporosis |
OMIM:614727 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Optic atrophy, Irritability, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
Retinitis Pigmentosa 12 |
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Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Angioosteohypotrophic Syndrome |
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Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy |
OMIM:616171 |
Leber Congenital Amaurosis 9 |
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Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Heart-Hand Syndrome, Spanish Type |
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Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
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Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
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Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... |
OMIM:112450 |
Retinitis Pigmentosa 51 |
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Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613464 |
Insulin Autoimmune Syndrome |
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Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Indolent Systemic Mastocytosis |
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Abnormal mast cell morphology, Splenomegaly, Osteoporosis, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Hypercholanemia, Familial, 2 |
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Osteopenia |
OMIM:619256 |
Retinitis Pigmentosa 46 |
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Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Iris Pigment Layer, Cleavage Of |
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Peripheral retinal detachment |
OMIM:147610 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
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Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Leber Congenital Amaurosis |
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Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Retinitis Pigmentosa 58 |
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Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Spastic Paraplegia 15, Autosomal Recessive |
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Ataxia, Retinal degeneration, Macular degeneration, Emotional lability, Spastic gait |
OMIM:270700 |
Endosteal Hyperostosis, Autosomal Dominant |
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Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Syndactyly, Type V |
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Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Epiphyseal Chondrodysplasia, Miura Type |
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Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Scoliosis, Br... |
OMIM:615923 |
Retinopathy, Pigmentary, And Mental Retardation |
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Pigmentary retinopathy |
OMIM:268050 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Retinitis Pigmentosa 10 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Retinitis Pigmentosa 2 |
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Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... |
OMIM:312600 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture |
ORPHA:166277 |
Brachydactyly Type C |
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Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Thrombocytopenia 6 |
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Thrombocytopenia, Osteoporosis, Myelofibrosis |
OMIM:616937 |
Osebold-Remondini Syndrome |
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Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Tricho-Retino-Dento-Digital Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:1264 |
Perrault Syndrome 1 |
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Osteoporosis |
OMIM:233400 |
Leber Congenital Amaurosis 1 |
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Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy |
OMIM:204000 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Analbuminemia |
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Osteoporosis |
OMIM:616000 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:1259 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Intermediate Osteopetrosis |
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Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Isolated Osteopoikilosis |
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Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Scheie Syndrome |
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Retinal degeneration |
OMIM:607016 |
Cone-Rod Dystrophy 8 |
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Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... |
OMIM:605549 |
Choroidal Atrophy-Alopecia Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:1433 |
Poretti-Boltshauser Syndrome |
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Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Bruck Syndrome |
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Recurrent fractures, Joint stiffness, Osteoporosis, Arthrogryposis multiplex congenita |
ORPHA:2771 |
Jalili Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
Vitreoretinal Degeneration, Snowflake Type |
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Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Sjögren-Larsson Syndrome |
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Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... |
ORPHA:816 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Loss of ambulation, Cerebral atrophy, Retinal degeneration, Depression, Anxiety, Pigmentary retin... |
ORPHA:79264 |
Osteogenesis Imperfecta, Type Xxii |
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Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart... |
OMIM:619795 |
Cofs Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:1466 |
Chondroectodermal Dysplasia With Night Blindness |
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Osteopenia, Osteoporosis, Fractures of the long bones |
ORPHA:319195 |
Florid Cemento-Osseous Dysplasia |
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Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Seckel Syndrome 10 |
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Glucose intolerance, Metaphyseal widening, Cone-shaped epiphysis, Elevated hemoglobin A1c, Glycos... |
OMIM:617253 |
Hemimegalencephaly |
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Optic atrophy, Gliosis, Abnormal neuron morphology |
ORPHA:99802 |
Ovarian Dysgenesis 8 |
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Osteoporosis |
OMIM:618187 |
Hemochromatosis Type 2 |
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Osteoporosis |
ORPHA:79230 |
Hyperzincemia With Functional Zinc Depletion |
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Osteoporosis |
OMIM:601979 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Optic disc pallor, Ataxia, Anxiety, Retinal thinning |
OMIM:618970 |
Multiple Symmetric Lipomatosis |
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Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
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Osteoporosis |
OMIM:610628 |
Premature Aging Syndrome, Okamoto Type |
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Osteoporosis |
OMIM:601811 |
Cerebellar Ataxia-Hypogonadism Syndrome |
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Optic atrophy, Ataxia, Abnormality of retinal pigmentation |
ORPHA:1173 |
Retinitis Pigmentosa 83 |
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Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Ring Chromosome 14 Syndrome |
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Pigmentary retinopathy |
OMIM:616606 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Birt-Hogg-Dubé Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:122 |
Aceruloplasminemia |
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Ataxia, Retinal degeneration |
OMIM:604290 |
Retinitis Pigmentosa 49 |
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Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Pyruvate Dehydrogenase E2 Deficiency |
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Broad-based gait, Retinal degeneration, Anxiety, Neurodegeneration, Gait disturbance, Difficulty ... |
ORPHA:79244 |
Vitreoretinochoroidopathy |
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Vitreous hemorrhage, Retinal arteriolar constriction, Nyctalopia, Color vision defect, Retinal de... |
OMIM:193220 |
Retinal Cone Dystrophy 3B |
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Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat... |
ORPHA:171706 |
Macrophthalmia, Colobomatous, With Microcornea |
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Macular atrophy |
OMIM:602499 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
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Insulin resistance |
OMIM:200170 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
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Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
ORPHA:50811 |
Retinitis Pigmentosa 79 |
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Optic disc pallor, Macular atrophy |
OMIM:617460 |
Hypotrichosis With Juvenile Macular Degeneration |
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Abnormality of macular pigmentation, Melanocytic nevus, Freckling, Macular degeneration |
ORPHA:1573 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Mycetoma |
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Osteomyelitis, Bone cyst, Osteoporosis, Pathologic fracture, Abnormal bone structure, Painless fr... |
ORPHA:2583 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Optic atrophy, Neuronal loss in central nervous system, Gliosis, Abnormal autonomic nervous syste... |
OMIM:614498 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Osteopenia, Osteoporosis |
ORPHA:369 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
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Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis |
ORPHA:1390 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Optic atrophy, Ataxia, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:249270 |
Canavan Disease |
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Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Osteogenesis Imperfecta, Type Xiii |
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Osteoporosis, Increased bone mineral density, Joint hypermobility |
OMIM:614856 |
Progressive Pseudorheumatoid Dysplasia |
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Joint stiffness, Coxa vara, Kyphoscoliosis, Joint contracture of the hand, Enlarged metacarpophal... |
OMIM:208230 |
Pseudopseudohypoparathyroidism |
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Osteoporosis |
OMIM:612463 |
Pseudoachondroplasia |
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Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
L-2-Hydroxyglutaric Aciduria |
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Gliosis, Corpus callosum atrophy, Optic atrophy, Cerebellar atrophy, Global brain atrophy |
OMIM:236792 |
Retinitis Pigmentosa 56 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Cone-Rod Dystrophy 10 |
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Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610283 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Osteoporosis, Camptodactyly |
OMIM:616006 |
Retinitis Pigmentosa 3 |
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Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:300029 |
Osteogenesis Imperfecta, Type Xix |
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Recurrent fractures, Osteopenia |
OMIM:301014 |
Brachydactyly Type B |
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Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Bardet-Biedl Syndrome 3 |
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Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:2521 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Diabetes Insipidus, Neurohypophyseal |
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Osteopenia |
OMIM:125700 |
Retinitis Pigmentosa 43 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Caffey Disease |
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Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... |
ORPHA:1310 |
Eales Disease |
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Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Sialidosis Type 2 |
|
Osteoporosis, Flexion contracture, Splenomegaly |
ORPHA:87876 |
Sjogren-Larsson Syndrome |
|
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... |
OMIM:270200 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration |
ORPHA:404451 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Camptodactyly of finger, Osteoporosis |
ORPHA:48431 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... |
ORPHA:897 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures |
ORPHA:2788 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Progressive cerebellar ataxia, Pigmentary retinopathy, Emotional lability |
ORPHA:255241 |
Alg6-Cdg |
|
Ataxia, Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Glycerol Kinase Deficiency |
|
Osteoporosis, Pathologic fracture |
OMIM:307030 |
Idiopathic Uveal Effusion Syndrome |
|
Visual field defect, Reduced visual acuity, Blurred vision, Subretinal fluid, Exudative retinal d... |
ORPHA:209956 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Neuronal loss in central nervous system, Gliosis, Ataxia, Cerebral atrophy, Decreased nerve condu... |
OMIM:256600 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Tenosynovial Giant Cell Tumor |
|
Joint stiffness, Osteolysis, Limitation of joint mobility, Localized osteoporosis |
ORPHA:66627 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... |
OMIM:615986 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:529665 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis |
ORPHA:1525 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Rickets |
OMIM:146350 |
Hall-Riggs Mental Retardation Syndrome |
|
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