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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Reduced visual ac... ORPHA:90050
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint hypermobility, Osteoporosis, Increased susceptibility to fractures ORPHA:2788
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Reduced visual acu... OMIM:601813
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Osteoporosis, Joint hypermobility, Recurrent fractures, Increase... OMIM:259770
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage 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 Similarity of
phenotypes
Matching phenotypes Source
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
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
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis ORPHA:3294
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short proximal phalanx of finger, Cli... OMIM:616849
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteoporosis
Osteoporosis OMIM:166710
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures OMIM:166260
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Rod-cone dystrophy, Ataxia, Pigmentary retinopathy ORPHA:1178
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal flecks, Macular atr... OMIM:603649
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi... ORPHA:79106
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis OMIM:277950
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hypermobility, Osteoporosis ORPHA:2787
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Pigmentary retinopathy OMIM:609016
Macular Dystrophy, Retinal, 1, North Carolina Type
Macular dystrophy, Drusen, Dyschromatopsia, Central scotoma, Abnormality of macular pigmentation,... OMIM:136550
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Retinopathy, Ataxia, Neurodegeneration, Pigm... OMIM:610951
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Color vision defect, Choroideremia, Visual field defect, Metamorpho... ORPHA:1243
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Ataxia, Rod-cone d... OMIM:551500
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Stargardt Disease 3
Macular dystrophy, Macular flecks, Reduced visual acuity, Macular atrophy, Visual impairment OMIM:600110
Macular Degeneration, Age-Related, 13
Drusen, Choroidal neovascularization, Macular degeneration, Macular scar, Progressive visual loss OMIM:615439
Late-Onset Retinal Degeneration
Sub-RPE deposits, Adult-onset night blindness, Visual loss, Choroidal neovascularization, Scotoma... OMIM:605670
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Cerebellar vermis atrophy, Cerebellar atrophy, Corpus callosum atrophy, Ataxia... OMIM:619389
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... OMIM:153700
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos... ORPHA:2114
Macular Dystrophy, Retinal, 3
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Macular drusen, Reduce... OMIM:608850
Hyaline Fibromatosis Syndrome
Osteopenia, Osteoporosis, Flexion contracture, Progressive flexion contractures, Osteolysis OMIM:228600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Increased bone mineral density, Failure to thrive, Metaphyseal dysplasia, D... OMIM:615198
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Familial Hyperprolactinemia
Osteopenia, Osteoporosis ORPHA:397685
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Retinal Cone Dystrophy 1
Color vision defect, Photophobia, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degene... OMIM:180020
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Prenatal Bowing
Bowing of the long bones OMIM:264050
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Cerebellar atrophy, Waddling gait, Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Hypergonadotropic Hypogonadism-Cataract Syndrome
Reduced bone mineral density, Recurrent fractures, Osteoporosis ORPHA:2410
Macular Degeneration, Early-Onset
Macular degeneration, Reduced visual acuity, Choroidal neovascularization OMIM:616118
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Central Retinal Vein Occlusion
Large central visual field defect, Visual loss, Retinal neovascularization, Macular degeneration,... ORPHA:411527
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... OMIM:136300
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Gliosis, Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Mu-Heavy Chain Disease
Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis ORPHA:100024
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Visual field defect, Rod-cone dystrophy, Retinal pigment ep... OMIM:609923
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor, Visual impairment OMIM:618513
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal atrophy, Myopia, Visual impairment, Chorioretinal dystrophy OMIM:600790
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... OMIM:616544
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal ... OMIM:605750
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t... ORPHA:564003
Bothnia Retinal Dystrophy
Large central visual field defect, Color vision defect, Central scotoma, Increased OCT-measured f... ORPHA:85128
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Cone-Rod Dystrophy 22
Photophobia, Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal ... OMIM:619531
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Optic Atrophy 6
Optic atrophy, Photophobia, Red-green dyschromatopsia, Retinal degeneration, Visual impairment OMIM:258500
Retinoschisis 1, X-Linked, Juvenile
Hypermetropia, Retinal detachment, Retinal atrophy, Retinoschisis, Macular atrophy, Peripheral cy... OMIM:312700
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnorm... OMIM:251270
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Bowing of... ORPHA:2501
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Third degree atrioventricular block, Ataxia ORPHA:480
Macular Dystrophy, Vitelliform, 3
Color vision defect, Macular dystrophy, Drusen, Choroidal neovascularization, Photophobia, Vitell... OMIM:608161
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Arcuate scotoma, Retinal thinning, Visual loss, Choroidal neov... ORPHA:179
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Osteoporosis ORPHA:85193
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Abnormality of retinal pigmentation ORPHA:2515
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... OMIM:617974
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Retinitis Pigmentosa 70
Constriction of peripheral visual field, Macular degeneration, Attenuation of retinal blood vesse... OMIM:615922
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Adult-Onset Foveomacular Vitelliform Dystrophy
Color vision defect, Abnormality of vision, Retinal nonattachment, Choroideremia, Visual field de... ORPHA:99000
Cone-Rod Dystrophy 13
Color vision defect, Photophobia, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual a... OMIM:608194
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Spinocerebellar Ataxia 7
Optic atrophy, Progressive cerebellar ataxia, Macular degeneration, Pigmentary retinopathy, Dysph... OMIM:164500
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Paracentral scotoma, Pericentral scotoma, Cone/co... OMIM:609021
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Hy... ORPHA:970
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint hypermobility, Osteoporosis OMIM:616033
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... ORPHA:3152
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Leber Congenital Amaurosis 2
Eye poking, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent fovea... OMIM:204100
Exudative Vitreoretinopathy 2, X-Linked
High myopia, Retinal detachment, Retinal fold, Intraretinal exudate, Reduced visual acuity, Perip... OMIM:305390
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Hypertension, Ataxia, Retinal dystrophy ORPHA:3156
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... OMIM:146300
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Exudative Vitreoretinopathy 5
Retinal exudate, Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuit... OMIM:613310
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Retinal degeneration, Cardiomyopathy, Pigmentary retinopathy OMIM:520000
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... ORPHA:215
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Leber Congenital Amaurosis 8
Macular coloboma, Eye poking, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorioc... OMIM:613835
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Retinal degeneration, I... OMIM:204500
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia OMIM:615266
Narp Syndrome
Irritability, Corticospinal tract atrophy, Cerebral cortical atrophy, Retinal pigment epithelial ... ORPHA:644
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Glutathione Synthetase Deficiency
Ataxia, Pigmentary retinopathy OMIM:266130
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Reduced visual acuity, Retinal flecks, ... OMIM:613194
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Emotional lability, Gliosis, Gait disturbance, Unsteady gait, Lethargy OMIM:603896
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig... OMIM:300476
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Leigh Syndrome
Optic atrophy, Emotional lability, Gliosis, Ataxia, Pigmentary retinopathy OMIM:256000
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal cortical bone morphology, Abnorma... ORPHA:3344
Irvan Syndrome
Optic atrophy, Photophobia, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional re... ORPHA:209943
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Bone pain, Recurrent fractures, Increased spinal bone density ORPHA:329475
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Prieto Syndrome
Osteoporosis OMIM:309610
Wagner Vitreoretinopathy
Optic atrophy, Visual loss, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitr... OMIM:143200
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Osteoporosis ORPHA:79301
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenome... OMIM:612526
Cone-Rod Dystrophy 11
Photophobia, Macular degeneration, Slow decrease in visual acuity, Bull's eye maculopathy, Cone/c... OMIM:610381
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:614880
Juvenile Paget Disease
Cranial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Osteoporosis ORPHA:2801
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Scoliosis, Metaphyseal wideni... OMIM:265900
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abnormal intervertebral disk m... ORPHA:2635
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Congenital Disorder Of Glycosylation, Type Iik
Joint hypermobility, Thrombocytopenia, Osteoporosis OMIM:614727
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Color vision defect, Photophobia, Attenuation of retinal... OMIM:613660
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:1952
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis OMIM:126550
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Ataxia, Pigmentary retinopathy ORPHA:3363
Familial Expansile Osteolysis
Pathologic fracture, Thin bony cortex, Bone pain, Osteolysis OMIM:174810
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Congenital Glaucoma
Retinal detachment, Visual loss ORPHA:98976
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Limb ataxia, Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Ataxia, R... OMIM:614322
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia OMIM:611809
Laurence-Moon Syndrome
Chorioretinal atrophy, Ataxia, Pigmentary retinopathy OMIM:245800
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Abnormality of retinal pigmentation ORPHA:397951
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Osteoporosis OMIM:620532
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Mastocytosis, Splenomegaly, Abnormal mast... ORPHA:98848
Brachyolmia Type 1, Hobaek Type
Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Short iliac bones, Sclerotic foci of ... OMIM:271530
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Retinitis Pigmentosa 38
Constriction of peripheral visual field, Progressive visual loss, Rod-cone dystrophy, Peripheral ... OMIM:613862
Leber Congenital Amaurosis 1
Eye poking, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Pigmentary r... OMIM:204000
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Alpha-Methylacyl-Coa Racemase Deficiency
Depression, Rod-cone dystrophy, Ataxia, Pigmentary retinopathy OMIM:614307
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Bruck Syndrome 1
Ankle flexion contracture, Elbow flexion contracture, Osteoporosis, Hip contracture, Knee flexion... OMIM:259450
Joubert Syndrome 28
Ataxia, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Gait imbalance, Cardiomyopathy, Loss of ambulation, Dysphag... ORPHA:329336
Perrault Syndrome 1
Osteoporosis OMIM:233400
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Left ventricular systolic dysfunction, Photoreceptor layer loss on macular OCT,... OMIM:145350
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Thrombocytopenia 6
Thrombocytopenia, Myelofibrosis, Osteoporosis OMIM:616937
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Bruck Syndrome
Joint stiffness, Arthrogryposis multiplex congenita, Recurrent fractures, Osteoporosis ORPHA:2771
Seckel Syndrome 10
Hypertriglyceridemia, Slender long bone, Acute pancreatitis, Impaired glucose tolerance, Elevated... OMIM:617253
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Decreased body weight, Kyphos... OMIM:618392
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Irritability, Dysphagia, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Analbuminemia
Osteoporosis OMIM:616000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Osteogenesis Imperfecta, Type Xxiii
Genu valgum, Broad femoral head, Shallow acetabular fossae, Insulin resistance, Bowing of the leg... OMIM:620639
Stickler Syndrome, Type I, Nonsyndromic Ocular
Myopia, Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc... ORPHA:210110
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar... OMIM:312600
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Multiple small vertebral fractures, Bowing of th... OMIM:619795
Hjv Or Hamp-Related Hemochromatosis
Osteoporosis ORPHA:79230
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Osteoporosis ORPHA:319195
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Reduced visual ac... ORPHA:90050
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy, Nyctalopia OMIM:607475
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Mycetoma
Bone cyst, Abnormal bone structure, Osteoporosis, Painless fractures due to injury, Pathologic fr... ORPHA:2583
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hemimegalencephaly
Optic atrophy, Gliosis, Abnormal neuron morphology ORPHA:99802
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Hypertrophic cardiomyopathy, Gait disturbance, Abnormality of retinal pigment... ORPHA:96
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Slender build, Slender long bones with narrow diaphyses, Dense met... ORPHA:50811
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Tritanomaly, Iris coloboma, Retinal dystrophy, Reduced visual acuity, Patent ductus arteriosus, A... OMIM:615147
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Gliosis, Cerebellar atrophy, Corpus callosum atrophy, Ataxia OMIM:236792
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Dyschromatopsia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, My... OMIM:264420
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Hypermobility of interphalangeal joints, Osteoporosis, G... OMIM:613849
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Osteoporosis ORPHA:369
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Retinal degeneration, Bradycardia OMIM:617173
Sialidosis Type 2
Splenomegaly, Flexion contracture, Osteoporosis ORPHA:87876
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Hypoplastic pelvis,... ORPHA:750
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Caffey Disease
Scoliosis, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregula... ORPHA:1310
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Enlarged metacarpophalangeal joints, Enlarged interphalangeal joints, Enlarged ep... OMIM:208230
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:1173
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis ORPHA:529665
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Generalized hyperpigmenta... ORPHA:816
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ... ORPHA:79435
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint hypermobility, Osteoporosis, Increased susceptibility to fractures ORPHA:2788
Congenital Disorder Of Glycosylation, Type Iiy
Reduced bone mineral density OMIM:620200
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Failure ... OMIM:600081
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Vitreoretinochoroidopathy
Color vision defect, Dyschromatopsia, Retinal detachment, Abnormality of chorioretinal pigmentati... OMIM:193220
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Hall-Riggs Syndrome
Osteoporosis OMIM:234250
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:616829
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Cystoid macular degeneration, Hypermetropia, Retinal deg... OMIM:267760
Ramon Syndrome
Abnormality of retinal pigmentation, Telangiectasia of the skin ORPHA:3019
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio... OMIM:114000
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Photops... ORPHA:40923
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Finger joint contracture, Osteoporosis ORPHA:48431
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Retinal detachment, Peripheral vitreoretinal degeneration, Mildly reduced visual acu... OMIM:614292
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Decreased HDL cholesterol c... OMIM:604367
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets OMIM:193100
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Pigmentary retinopathy, Gait disturbance, Dysphagia, Attention d... ORPHA:216866
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:300029
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float... OMIM:618173
Oculopharyngodistal Myopathy 3
Ataxia, Dysphagia, Pigmentary retinopathy OMIM:619473
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis OMIM:616006
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Cranio-Osteoarthropathy
Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis ORPHA:1525
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, ... ORPHA:2848
Cone-Rod Dystrophy 2
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... OMIM:120970
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Retinal dysplasia OMIM:615771
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Bone cyst, Pathologic fracture OMIM:618193
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Scoliosis, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Fifth fin... OMIM:615923
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche... OMIM:614662
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypo... ORPHA:552
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis OMIM:257970
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Warburg Micro Syndrome 1
Joint hypermobility, Osteoporosis OMIM:600118
Osteogenesis Imperfecta, Type Xxi
Joint hypermobility, Recurrent fractures, Osteoporosis OMIM:619131
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs ORPHA:882
Monosomy 5P
Joint hypermobility, Abnormality of bone mineral density, Recurrent fractures ORPHA:281
Hypercholanemia, Familial 1
Rickets OMIM:607748
Ck Syndrome
Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Kyphosis, Abnormal digit morphology,... OMIM:300831
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Depression, Emotional lability, Cerebellar atrophy, Pigmentary retinopathy, Los... ORPHA:79264
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... OMIM:256600
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Insulin resistance OMIM:617885
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Waardenburg-Shah Syndrome
Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor... ORPHA:897
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Reduced vis... OMIM:165550
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Cerebellar atrophy, Ataxia, Optic disc pallor OMIM:612936
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Hip osteoarthritis, Knee osteoarthritis, Limitation of j... ORPHA:2619
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Truncal ataxia, Hypertrophic cardiomyopathy, Ataxia, Dilated cardiomyopathy, Pigme... OMIM:252011
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Synostosis of carpal bones, Osteoporosis ORPHA:93351
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Ataxia, Gait disturbance ORPHA:578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in... ORPHA:2485
Desmoid Tumor
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation ORPHA:873
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukemia, Leukocytosis, Osteoporo... ORPHA:98850
Cranioectodermal Dysplasia
Joint hypermobility, Craniosynostosis, Osteoporosis ORPHA:1515
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Brain atrophy, Pigmentary retinopathy OMIM:619059
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia OMIM:619446
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Abnormal form of the vertebral b... ORPHA:1486
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Gait disturbance, Retinal flecks, Pigmentary retinopathy, Pse... ORPHA:100996
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Limited pronati... OMIM:610967
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Sinding-Larsen-Johansson Disease
Painless fractures due to injury, Knee pain, Osteochondrosis, Limitation of knee mobility ORPHA:97337
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Thin bony cortex OMIM:617952
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Splenomegaly ORPHA:172
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu... OMIM:306000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finger, Joint hypermobil... OMIM:130060
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Flexion contracture of toe, Recurrent fractures, Osteoporosis ORPHA:3409
Coats Disease