Gene: Lrp5 MGI:1278315

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

low density lipoprotein receptor-related protein 5

Synonyms:

LR3, LRP7

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lrp5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Lrp5 (13 diseases)
Human diseases predicted to be associated with Lrp5 (1619 diseases)

The table below shows human diseases associated to Lrp5 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Osteoporosis	Osteoporosis	OMIM:166710
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Generaliz...	ORPHA:2790
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor...	ORPHA:891
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis	OMIM:607634
Retinopathy Of Prematurity	Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona...	ORPHA:90050
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ...	OMIM:144750
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures	ORPHA:2788
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Exudative Vitreoretinopathy 4	Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip...	OMIM:601813
Osteoporosis-Pseudoglioma Syndrome	Pathologic fracture, Osteoporosis, Increased susceptibility to fractures, Joint hypermobility	OMIM:259770
Isolated Polycystic Liver Disease	Polycystic liver disease, Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas	ORPHA:2924
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts	OMIM:617875

The table below shows human diseases predicted to be associated to Lrp5 by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:256450
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Irritability, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Retinitis Pigmentosa 12	Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,...	OMIM:600105
Angioosteohypotrophic Syndrome	Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol...	ORPHA:75508
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy	OMIM:616171
Leber Congenital Amaurosis 9	Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti...	OMIM:608553
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger	OMIM:140450
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S...	OMIM:112450
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613464
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Splenomegaly, Osteoporosis, Mastocytosis, Increased proportion of ...	ORPHA:98848
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
Retinitis Pigmentosa 46	Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:612572
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ...	OMIM:145350
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Retinitis Pigmentosa 58	Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor...	OMIM:613617
Spastic Paraplegia 15, Autosomal Recessive	Ataxia, Retinal degeneration, Macular degeneration, Emotional lability, Spastic gait	OMIM:270700
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ...	OMIM:144750
Syndactyly, Type V	Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h...	OMIM:186300
Epiphyseal Chondrodysplasia, Miura Type	Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Scoliosis, Br...	OMIM:615923
Retinopathy, Pigmentary, And Mental Retardation	Pigmentary retinopathy	OMIM:268050
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia	OMIM:600496
Retinitis Pigmentosa 10	Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ...	OMIM:180105
Retinitis Pigmentosa 2	Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey...	OMIM:312600
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy...	ORPHA:293964
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture	ORPHA:166277
Brachydactyly Type C	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	Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment	OMIM:614224
Thrombocytopenia 6	Thrombocytopenia, Osteoporosis, Myelofibrosis	OMIM:616937
Osebold-Remondini Syndrome	Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short...	OMIM:112910
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Leber Congenital Amaurosis 1	Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy	OMIM:204000
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat...	ORPHA:79435
Analbuminemia	Osteoporosis	OMIM:616000
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u...	ORPHA:85188
Intermediate Osteopetrosis	Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ...	ORPHA:210110
Isolated Osteopoikilosis	Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi...	ORPHA:166119
Scheie Syndrome	Retinal degeneration	OMIM:607016
Cone-Rod Dystrophy 8	Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/...	OMIM:605549
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation	ORPHA:1433
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper...	ORPHA:79299
Bruck Syndrome	Recurrent fractures, Joint stiffness, Osteoporosis, Arthrogryposis multiplex congenita	ORPHA:2771
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul...	OMIM:600081
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots	OMIM:193230
Sjögren-Larsson Syndrome	Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera...	ORPHA:816
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Cerebral atrophy, Retinal degeneration, Depression, Anxiety, Pigmentary retin...	ORPHA:79264
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart...	OMIM:619795
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:1466
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Osteoporosis, Fractures of the long bones	ORPHA:319195
Florid Cemento-Osseous Dysplasia	Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu...	ORPHA:83451
Seckel Syndrome 10	Glucose intolerance, Metaphyseal widening, Cone-shaped epiphysis, Elevated hemoglobin A1c, Glycos...	OMIM:617253
Hemimegalencephaly	Optic atrophy, Gliosis, Abnormal neuron morphology	ORPHA:99802
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Hemochromatosis Type 2	Osteoporosis	ORPHA:79230
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Ataxia, Anxiety, Retinal thinning	OMIM:618970
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly	ORPHA:2398
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Ataxia, Abnormality of retinal pigmentation	ORPHA:1173
Retinitis Pigmentosa 83	Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi...	OMIM:618173
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Aceruloplasminemia	Ataxia, Retinal degeneration	OMIM:604290
Retinitis Pigmentosa 49	Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,...	OMIM:613756
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Retinal degeneration, Anxiety, Neurodegeneration, Gait disturbance, Difficulty ...	ORPHA:79244
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal arteriolar constriction, Nyctalopia, Color vision defect, Retinal de...	OMIM:193220
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat...	ORPHA:171706
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy	OMIM:602499
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational...	ORPHA:50811
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy	OMIM:617460
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Melanocytic nevus, Freckling, Macular degeneration	ORPHA:1573
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph...	ORPHA:174
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Pathologic fracture, Abnormal bone structure, Painless fr...	ORPHA:2583
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Neuronal loss in central nervous system, Gliosis, Abnormal autonomic nervous syste...	OMIM:614498
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Osteoporosis	ORPHA:369
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis	ORPHA:1390
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Ataxia, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:249270
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Osteogenesis Imperfecta, Type Xiii	Osteoporosis, Increased bone mineral density, Joint hypermobility	OMIM:614856
Progressive Pseudorheumatoid Dysplasia	Joint stiffness, Coxa vara, Kyphoscoliosis, Joint contracture of the hand, Enlarged metacarpophal...	OMIM:208230
Pseudopseudohypoparathyroidism	Osteoporosis	OMIM:612463
Pseudoachondroplasia	Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e...	ORPHA:750
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea...	ORPHA:79084
L-2-Hydroxyglutaric Aciduria	Gliosis, Corpus callosum atrophy, Optic atrophy, Cerebellar atrophy, Global brain atrophy	OMIM:236792
Retinitis Pigmentosa 56	Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment...	OMIM:613581
Cone-Rod Dystrophy 10	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	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Osteogenesis Imperfecta, Type Xix	Recurrent fractures, Osteopenia	OMIM:301014
Brachydactyly Type B	Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda...	ORPHA:93383
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Diabetes Insipidus, Neurohypophyseal	Osteopenia	OMIM:125700
Retinitis Pigmentosa 43	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	Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria...	ORPHA:1310
Eales Disease	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	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	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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