Gene Summary

secreted acidic cysteine rich glycoprotein
BM-40,  osteonectin

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal humerus morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 4.22×10-06
decreased body length Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-08
abnormal eye morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.15×10-07
increased circulating alanine transaminase level Sparctm1a(EUCOMM)Wtsi HOM Early adult 6.32×10-06
abnormal coat/hair pigmentation Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.66×10-07
abnormal coat/ hair morphology Sparctm1a(EUCOMM)Wtsi HOM   Early adult 7.70×10-06
abnormal tibia morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 8.44×10-07
cataract Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.29×10-12
abnormal incisor color Sparctm1a(EUCOMM)Wtsi HOM Early adult 5.12×10-09
abnormal tooth morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 4.92×10-07
decreased bone mineral density Sparctm1a(EUCOMM)Wtsi HOM Early adult 3.51×10-05
increased circulating creatine kinase level Sparctm1a(EUCOMM)Wtsi HOM Early adult 5.99×10-06
decreased bone mineral content Sparctm1a(EUCOMM)Wtsi HOM Early adult 4.88×10-05
increased lactate dehydrogenase level Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.80×10-06
abnormal lens morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 2.85×10-12
decreased body weight Sparctm1a(EUCOMM)Wtsi HOM   Early adult 1.12×10-05
increased circulating calcium level Sparctm1a(EUCOMM)Wtsi HOM   Early adult 3.54×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 100% (2 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood vessel 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
eye 0.0%
gall bladder 0.0%
heart 0.17% (1 of 576)
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
peripheral nervous system 0.17% (1 of 584)
peyer's patch 0.59% (1 of 169)
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 585)
uterus 0.35% (2 of 571)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 154 images

View all 20 images

Human diseases caused by Sparc 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 Sparc by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Osteogenesis Imperfecta, Type Xvii
Osteoporosis OMIM:616507

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

Disease Similarity of
Matching phenotypes Source
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Book Syndrome
Premature graying of hair, Hypodontia OMIM:112300
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Trichodysplasia, Alopecia of scalp ORPHA:79129
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:612572
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Hypoplastic toenails, Tooth agenesis, Everted lower lip vermil... ORPHA:1028
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia, Sparse hair OMIM:272980
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... OMIM:180105
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... OMIM:602772
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Posterior subcapsular cataract, Chorioretinal degeneration, Microcornea OMIM:615458
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:613810
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Joint stiffness, Retinal detachment, Cataract OMIM:127200
Alopecia Antibody Deficiency
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab... ORPHA:1006
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Atrophic, patchy alopecia, Enamel hypoplasia, Dystrophic... ORPHA:251393
Achondrogenesis Type 2
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, R... ORPHA:93296
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Posterior subcapsular cataract, Optic disc p... OMIM:600132
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Epidermolysis Bullosa, Junctional 4, Intermediate
Macular hyperpigmented dermopathy, Carious teeth, Dental enamel pits, Nail dystrophy, Dystrophic ... OMIM:619787
Retinitis Pigmentosa 86
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618613
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... ORPHA:414
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cataract, Rod-cone... OMIM:613801
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:616469
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcapsular cataract, Rod-c... OMIM:615233
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Exudative vitreoretinopathy, Osteopenia, Retinal detachment,... ORPHA:2788
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Cataract 21, Multiple Types
Retinal detachment, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Reduced bone mineral density, Rhegmatogenous retinal detachment, Peripheral ... ORPHA:891
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Aniridia 3
Cataract OMIM:617142
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Reticular hyperpigmentation, Hypodontia, Brittle hair, Brittle scalp hair, Con... OMIM:262020
Gyrate Atrophy Of Choroid And Retina
Posterior subcapsular cataract, Chorioretinal atrophy, Foveoschisis, Macular thickening OMIM:258870
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenesis imperfecta, ... ORPHA:1873
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone morphology, Abnormal metaphysis mo... ORPHA:2779
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Neurofibromatosis, Type Ii
Ataxia, Juvenile posterior subcapsular lenticular opacities, Peripheral Schwannoma, Bilateral ves... OMIM:101000
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Hypocalcemia, Retrognathia, Abnormality of the dentition, Oligodontia, Sho... ORPHA:557003
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ... ORPHA:2222
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Ameloonychohypohidrotic Syndrome
Onycholysis, Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked ... OMIM:104570
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Flared metaphysis, Oligodontia,... OMIM:601668
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Trichodentoosseous Syndrome
Taurodontia, Fragile nails, Microdontia, Widely spaced teeth, Abnormal hair morphology OMIM:190320
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal anterior cham... ORPHA:94058
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... ORPHA:364055
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Ataxia, Dysmetria, Rod-cone dystrophy, Optic atrophy, Cataract, Achilles te... OMIM:612674
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Vacuolated ly... OMIM:204200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Bowing of the long bones, Hy... ORPHA:436
Cataract OMIM:190330
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Generalized reticulate brown pigmentation, Supernumerary tooth, Hypopigm... ORPHA:69087
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Tricho-Dento-Osseous Syndrome
Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Fragile nails, Microdontia, Widely... ORPHA:3352
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract, Joint hyperflexibility ORPHA:250984
Stickler Syndrome Type 1
Osteoarthritis, Retinal detachment, Cataract, Abnormal vitreous humor morphology, Joint hyperflex... ORPHA:90653
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Retinal dystrophy OMIM:613763
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... ORPHA:2228
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Tractional retinal detachment, Retinal exu... OMIM:613310
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Delayed pubic bone ossification, Retinal detachment, Cataract, Limited elbow extension ORPHA:1856
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Optic... OMIM:618889
Joint Laxity, Short Stature, And Myopia
Osteopenia, Iris coloboma, Retinal detachment, Chorioretinal coloboma OMIM:617662
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Osteoporosis, Iris hypopigmentation, Cataract... ORPHA:85194
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Irregular tarsal ossification, Anterior cortical cataract, Corne... OMIM:221800
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Joint hypermobility OMIM:604841
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Peripapil... OMIM:616188
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnor... ORPHA:363417
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Sh... ORPHA:2501
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Idiopathic Uveal Effusion Syndrome
Retinal fold, Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detac... ORPHA:209956
Trichodental Dysplasia
Sparse hair, Hypodontia, Brittle hair, Conical tooth, Odontodysplasia, Fine hair, Slow-growing hair OMIM:601453
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:300578
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Premature loss of primary teeth, Abnormal fingernail morphology, Fine hair, Abnormal to... ORPHA:248
Ulna Metaphyseal Dysplasia Syndrome
Coxa valga, Hypercalcemia OMIM:191420
Filippi Syndrome
Hypertrichosis, Decreased body weight, Hypodontia, Sparse hair, Thin vermilion border, Cutaneous ... OMIM:272440
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Taurodontia OMIM:272700
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Neuroma, Glioma, Bilateral vestibular schwannoma, Spinal... ORPHA:637
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Idiopathic Anterior Uveitis
Nuclear cataract, Increased cup-to-disc ratio, Macular edema, Posterior subcapsular cataract, Pos... ORPHA:280914
Cataract, Ataxia, Short Stature, And Mental Retardation
Ataxia, Posterior subcapsular cataract OMIM:300619
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Schimmelpenning-Feuerstein-Mims Syndrome
Recurrent fractures, Hypophosphatemic rickets, Abnormality of finger, Abnormality of toe, Corneal... OMIM:163200
Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Sparse eyelashes, Sparse axillary... OMIM:257960
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Micrognathia, Cataract, Epiphyseal stippling OMIM:614882
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Infantile Myofibromatosis
Bone cyst, Irregular hyperpigmentation, Gingival fibromatosis, Osteolysis, Hypercalcemia, Abnorma... ORPHA:2591
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Retinal detachment, Cataract, Delayed... ORPHA:163649
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Kniest Dysplasia
Laryngotracheomalacia, Delayed epiphyseal ossification, Joint stiffness, Flexion contracture of f... ORPHA:485
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Alopecia, Ridged nail, Carious teeth OMIM:614564
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Posterior subcapsular cataract, Hepatocellular carcinoma OMIM:616200
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Osteopenia, Flared metap... OMIM:619073
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Hypophosphatemia, Tooth mal... OMIM:156400
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Knobloch Syndrome 1
Ataxia, Lens subluxation, Band keratopathy, Joint hypermobility, Chorioretinal atrophy, Retinal d... OMIM:267750
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Microcornea, Delayed eruption of teeth, Catar... OMIM:257850
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Ataxia, Cerulean cataract, Posterior subcapsular cataract, Limited el... ORPHA:67036
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Narrow mouth, Hypopigmentation of hair, Abnormal oral cavity morph... ORPHA:1355
Oculoskeletodental Syndrome
Hypocalcemia, Low anterior hairline, Macroglossia, Small for gestational age, Oligodontia, Short ... OMIM:618440
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorioretinal hypopigmentat... OMIM:106210
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... ORPHA:249
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Sclerosis of skull base, Short femur, Fractures of the long bones, Femor... OMIM:602080
Hypophosphatasia, Infantile
Bowing of the legs, Failure to thrive, Metaphyseal cupping, Craniosynostosis, Elevated plasma pyr... OMIM:241500
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Kniest Dysplasia
Delayed epiphyseal ossification, Hip contracture, Tracheomalacia, Retinal detachment, Gait distur... OMIM:156550
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Hypercalcemia OMIM:614732
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Stenosis of the medullary cavity of the... ORPHA:93324
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Alo... ORPHA:93160
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hyp... ORPHA:53
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Conical primary inciso... OMIM:602400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Coarse hair, Tiger tail banding OMIM:616390
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Proteus-Like Syndrome
Abnormal pupil morphology, Exostoses, Splenomegaly, Hemangioma, Retinal detachment, Limbal dermoi... ORPHA:2969
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Spondyloocular Syndrome
Osteopenia, Retinal detachment, Cataract OMIM:605822
Galactosemia Iv
Cataract OMIM:618881
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Talon cusp, Brachydactyly, Syndactyly, Microdontia, Radioulnar s... OMIM:605282
Flynn-Aird Syndrome
Joint stiffness, Ataxia, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Catara... OMIM:136300
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Patchy alopecia, Fragile nails, Carious teeth, Enamel hypoplas... OMIM:226650
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Fragile nails, Cataract ORPHA:254704
Pili Torti, Early-Onset
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:261900
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Comedonal acne, Peripheral retinal atrophy, Microcornea, Retinal dystrophy,... OMIM:615147
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Osteopenia, Posterior subcapsular ca... OMIM:271510
Senior-Loken Syndrome
Ataxia, Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrop... ORPHA:3156
Mucopolysaccharidosis Type 4
Wide mouth, Corneal opacity, Reduced bone mineral density, Abnormality of the dentition, Grayish ... ORPHA:582
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Failure to thrive, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndact... ORPHA:476126
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, En... ORPHA:94089
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Alport Syndrome
Diffuse leiomyomatosis, Nephritis, Macular degeneration, Recurrent corneal erosions, Posterior su... ORPHA:63
Brittle Cornea Syndrome
Corneal scarring, Retinal detachment, Osteoporosis, Camptodactyly, Gait disturbance, Corneal eros... ORPHA:90354
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Joint laxity, Posterior subcapsular cataract, Astigmatism OMIM:619234
Alstrom Syndrome
Subcapsular cataract, Chronic active hepatitis, Nephritis, Otitis media, Pigmentary retinopathy, ... OMIM:203800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Cataract OMIM:615181
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Acrootoocular Syndrome
Anodontia, Short toe, Dental malocclusion, Supernumerary tooth, Abnormal finger flexion creases, ... ORPHA:2980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Retinal detachment, Cataract OMIM:613153
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea ORPHA:627
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... OMIM:265900
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Wide mouth, Constricted iliac wing, Metaphysea... OMIM:253010
Hypophosphatemic Rickets
Joint stiffness, Failure to thrive, Hypophosphatemia, Fibrous dysplasia of the bones, Multiple ca... ORPHA:437
Hypercalcemia, Pathologic fracture ORPHA:55881
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Usher Syndrome Type 2
Microdontia, Carious teeth, Iris hypopigmentation, Abnormality of dental color, Cataract, Abnorma... ORPHA:231178
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Hypercalcemia OMIM:240150
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Abnormal fingernail morphology, Abnormal ... OMIM:604625
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ataxia, Retinal degeneration, Craniosynostosis OMIM:225755
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... OMIM:617994
Stickler Syndrome, Type I
Membranous vitreous appearance, Joint stiffness, Joint hypermobility, Osteoarthritis, Retinal det... OMIM:108300
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... ORPHA:289157
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Widely-spa... OMIM:300602
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Corneal opacity, Flexion contracture, Generalized joint laxity, Exos... ORPHA:536471
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Sturge-Weber Syndrome
Abnormal retinal vascular morphology, Retinal detachment, Conjunctival telangiectasia, Abnormal c... ORPHA:3205
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy OMIM:267760
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Cachexia, Glossitis, Catarac... OMIM:175500
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Incontinentia Pigmenti
Keratitis, Corneal opacity, Skin rash, Retinal vascular proliferation, Eosinophilia, Retinal deta... ORPHA:464
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Hemifacial Atrophy, Progressive
Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... OMIM:141300
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Cleft palate, Small for gestationa... ORPHA:1617
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Optic atrophy, Gait ataxia OMIM:614322
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Odontomicronychial Dysplasia
Premature eruption of permanent teeth, Short nail, Slow-growing nails, Abnormality of the dentiti... ORPHA:1811
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Widely-spa... OMIM:300431
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Brachydactyly, Mac... OMIM:263540
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Talipes equinovarus, Small for gestational age, Congenital bilateral hip dislocation, ... ORPHA:85288
Pseudohypoparathyroidism, Type Ia
Short toe, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemi... OMIM:103580
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Anodontia, Sparse hair, Supernumerary nipple, Enamel hypoplasia, Nail dystrophy, ... OMIM:275450
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Decreased movement range in interphalangeal joints, Elevated circulating creatine kinase concentr... OMIM:609115
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... OMIM:618363
Antiphospholipid Syndrome, Familial
Keratitis, Iritis, Retinal detachment, Autoimmune thrombocytopenia, Retinal vasculitis, Central r... OMIM:107320
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Retinal degeneration, Flexion contracture, Macular degeneration, Optic atrophy OMIM:256730
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Zonular cataract, Flexion contracture, Leukopenia, Choreoathetosis, Cataract, Recurrent p... OMIM:616271
Cranioectodermal Dysplasia
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... ORPHA:1515
Nance-Horan Syndrome
Mulberry molar, Broad finger, Short phalanx of finger, Posterior Y-sutural cataract, Microcornea,... OMIM:302350
Cataract 47
Cataract, Microcornea OMIM:612018
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Chanarin-Dorfman Syndrome
Subcapsular cataract, Ataxia OMIM:275630
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Myotonic Dystrophy 2
Iridescent posterior subcapsular cataract, Posterior subcapsular cataract OMIM:602668
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
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
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... OMIM:154780
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, C... OMIM:612462
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Wide mouth, Constricted iliac wing, Metaphysea... OMIM:253000
Sjögren-Larsson Syndrome
Joint stiffness, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Corneal ... ORPHA:816
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... ORPHA:209959
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Small for gestational age, Cataract, Arthrogryposis multiplex congenita, Hip d... OMIM:212540
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, High anterior hairline, Notched primary central incisor OMIM:620062
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Osteopenia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Failure to thrive, Flexion contracture, Osteopenia, Micrognathia, Short humerus, Rhi... OMIM:222765
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Tooth abscess, Rickets ORPHA:89937
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract, Retinal dystrophy OMIM:617547
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Oculofaciocardiodental Syndrome
Flexion contracture of the 2nd toe, Retinal detachment, Flexion contracture of the 4th toe, Micro... ORPHA:2712
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Congenital hip dislocation, Limited elbow extension, Incisor macrodontia, Ca... OMIM:619719
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Supernumerary tooth, Sparse hair, Abnormality of the dentiti... ORPHA:1264
Werner Syndrome
Retinal degeneration, Reduced bone mineral density, Elevated hemoglobin A1c, Osteoporosis, Osteos... OMIM:277700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt... ORPHA:2325
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Retinitis Pigmentosa 74
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Malar flattening, Cleft palate, Small hand, Abnormal hand morphology, Cataract, Short foot OMIM:300261
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... ORPHA:166108
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Failure to thrive, Osteomyelitis, Hypocalcemia, Increased bone mineral density, Cranio... OMIM:259700
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Retinal detachment, Optic atrophy, Distal arthrogryposis, Cataract OMIM:619833
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Cataract, Obesity, Sho... OMIM:612463
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration OMIM:252650
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Classic Homocystinuria
Joint stiffness, Recurrent fractures, Abnormality of retinal pigmentation, Retinal detachment, Os... ORPHA:394
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:615883
Cataract 2, Multiple Types
Developmental cataract, Nuclear cataract, Microcornea OMIM:604307
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:277440
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair, Abnormality of the dentition, Limb undergrowth, Rhizomelia, Abnormal ... ORPHA:177
Kohlschutter-Tonz Syndrome-Like
2-3 toe syndactyly, Thick eyebrow, Decreased body weight, Small hand, Delayed eruption of teeth, ... OMIM:619229
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Sjogren-Larsson Syndrome
Macular degeneration, Flexion contracture, Opacification of the corneal epithelium, Retinal thinn... OMIM:270200
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Mevalonic Aciduria
Ataxia, Progressive cerebellar ataxia, Nuclear cataract, Skin rash, Fluctuating splenomegaly, Leu... OMIM:610377
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Small hand, Slender long bone, Carious teeth, Short foot, Calvarial... OMIM:244460
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Eem Syndrome
Sparse scalp hair, Ectrodactyly, Selective tooth agenesis, Abnormality of retinal pigmentation, A... ORPHA:1897
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Walker-Warburg Syndrome
Corneal opacity, Retinal detachment, Microcornea, Retinal dystrophy, Optic atrophy, Iris coloboma... ORPHA:899
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyl... ORPHA:2741
Atkin-Flaitz Syndrome
Thick vermilion border, Abnormality of the dentition, Maxillary lateral incisor microdontia, Ever... ORPHA:1193
Hypotrichosis 13
Woolly hair, Sparse hair, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of denta... OMIM:615896
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract, Retinal atrophy OMIM:616722
Porphyria, Congenital Erythropoietic
Corneal scarring, Hypertrichosis, Erythrodontia, Joint contracture of the hand, Absent eyebrow, A... OMIM:263700
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Anti-Glomerular Basement Membrane Disease
Anemia, Retinal detachment, Arthritis ORPHA:375
Odontoonychodermal Dysplasia
Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Hypodontia, Sparse eyebrow, Short... OMIM:257980
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Thick eyebrow, Small for... OMIM:216550
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Otodental Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of p... ORPHA:2791
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Hirsutism, Narrow palate, Retrognathia, Micrognathia, Syndactyl... OMIM:613684
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Megalocornea, Retinal detachment, Optic atrophy, Cataract, Abnormality ir... ORPHA:370959
Waardenburg Syndrome Type 2