Gene Summary

Name:
secreted acidic cysteine rich glycoprotein
Synonyms:
BM-40,  osteonectin

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Sparctm1a(EUCOMM)Wtsi HOM   Early adult 7.70×10-08
decreased body length Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-08
increased circulating calcium level Sparctm1a(EUCOMM)Wtsi HOM   Early adult 4.28×10-05
abnormal coat/hair pigmentation Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.66×10-07
increased circulating iron level Sparctm1a(EUCOMM)Wtsi HOM Early adult 2.72×10-05
cataract Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.29×10-12
decreased bone mineral density Sparctm1a(EUCOMM)Wtsi HOM Early adult 3.51×10-05
abnormal eye morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.15×10-07
abnormal incisor color Sparctm1a(EUCOMM)Wtsi HOM Early adult 5.12×10-09
decreased body weight Sparctm1a(EUCOMM)Wtsi HOM   Early adult 1.04×10-05
abnormal lens morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 2.85×10-12
increased circulating creatine kinase level Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.41×10-05
abnormal tooth morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 4.92×10-07
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
abnormal humerus morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 4.22×10-06
increased circulating LDL cholesterol level Sparctm1a(EUCOMM)Wtsi HOM Early adult 9.26×10-05
increased lactate dehydrogenase level Sparctm1a(EUCOMM)Wtsi HOM Early adult 3.29×10-07
decreased bone mineral content Sparctm1a(EUCOMM)Wtsi HOM Early adult 4.88×10-05

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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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
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
phenotypes
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
phenotypes
Matching phenotypes Source
Dens In Dente And Palatal Invaginations
Abnormality of the dentition, Dens in dente OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Book Syndrome
Hypodontia, Premature graying of hair OMIM:112300
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Cataract 43
Subcapsular cataract OMIM:616279
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Retinitis Pigmentosa 77
Cystoid macular edema, Posterior subcapsular cataract, Retinal atrophy, Rod-cone dystrophy OMIM:617304
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
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
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta ORPHA:79129
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615434
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormality of dental color, Onycholysis, Abnormal dental enamel morphology, Delayed e... ORPHA:1028
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Taurodontia, Sparse hair, Oligodontia OMIM:272980
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:612572
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Vitreous floaters, Bone spicule pigmentation of the retina, Rod-c... OMIM:618173
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Attenuation of ret... ORPHA:179
Retinitis Pigmentosa 56
Nuclear cataract, Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Bone... OMIM:613581
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:602772
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:180105
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentat... OMIM:613810
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Dwarfism With Stiff Joints And Ocular Abnormalities
Joint stiffness, Retinal detachment, Cataract, Delayed ossification of carpal bones OMIM:127200
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Abnormality of dental color, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1006
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Abnormality of dental color, Dystrophic fingernails, Dystrophic toenai... ORPHA:251393
Amelogenesis Imperfecta, Type Ia
Taurodontia, Generalized microdontia, Amelogenesis imperfecta OMIM:104530
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:600132
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... ORPHA:414
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Absent vertebral body mineral... ORPHA:93296
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Increased susceptibility to fractures, Osteoporosis, Osteopenia, Los... ORPHA:2788
Aniridia 3
Cataract OMIM:617142
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Brittle hair, Reticular hyperpigmentation, Brittle scalp hair, Abnor... OMIM:262020
Retinitis Pigmentosa 72
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy OMIM:616469
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Gyrate Atrophy Of Choroid And Retina
Posterior subcapsular cataract, Chorioretinal atrophy OMIM:258870
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Jalili Syndrome
Abnormality of dental color, Abnormality of retinal pigmentation, Abnormal dental enamel morpholo... ORPHA:1873
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Oculocerebrodental Syndrome
Hypercalcemia, Developmental cataract, Metaphyseal dysplasia, Microdontia, Oligodontia, Abnormali... ORPHA:557003
Neurofibromatosis, Type Ii
Astrocytoma, Meningioma, Ependymoma, Cortical cataract, Peripheral Schwannoma, Juvenile posterior... OMIM:101000
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Gingival overgrowth, Delayed eruption of teeth, Thick eyebrow, ... ORPHA:2222
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Ameloonychohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... OMIM:104570
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta OMIM:612529
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615233
Trichodentoosseous Syndrome
Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Fragile nails OMIM:190320
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy, Bowing of the long bones, Craniosynostosis, Abnormal... ORPHA:436
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta OMIM:617217
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Small epiphyses, Discolored lateral incisors, Oligodontia, Tapered finger, Me... OMIM:601668
Neovascular Glaucoma
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... ORPHA:94058
Pili Torti
Brittle hair, Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormali... ORPHA:2889
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Macular hyperpigmented dermopathy, White fore... ORPHA:2779
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Poster... ORPHA:364055
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Trichomegaly
Cataract OMIM:190330
Naegeli-Franceschetti-Jadassohn Syndrome
Generalized reticulate brown pigmentation, Carious teeth, Premature loss of teeth, Onycholysis, D... ORPHA:69087
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, Fr... ORPHA:3352
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Inflammatory abnormality ... ORPHA:39044
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Ulna Metaphyseal Dysplasia Syndrome
Coxa valga, Hypercalcemia OMIM:191420
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Yellow-brown discoloration of the teeth, Abnormal dental enamel morp... ORPHA:1946
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Retinal detachment, Cataract, Astigmatism, Joint hyperflexibility ORPHA:250984
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Developmental cataract OMIM:613763
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Dysmetria, Achilles tendon contracture, Rod-cone dystrophy, Ataxia, Subcapsular ca... OMIM:612674
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Hypodontia, Delayed eruption of teeth, Conical tooth, Thin toenail, Abnormality of den... ORPHA:2228
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Cataract, Osteoarthritis, Joint hyperflex... ORPHA:90653
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion OMIM:130900
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Shallow anterior chamber, Retinal exu... OMIM:613310
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract, Retinal detachment, Delayed pubic bone ossification, Limited elbow extension ORPHA:1856
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Osteoporosis, Retinal detachment, Cataract, Iris hypopigmentation... ORPHA:85194
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy OMIM:618195
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Morm Syndrome
Hyperactivity, Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Stickler Syndrome, Type Ii
Joint hypermobility, Abnormal vitreous humor morphology, Retinal detachment, Cataract OMIM:604841
Retinal Dystrophy And Obesity
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... OMIM:616188
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Sparse eyebrow, Sparse hair, Tooth agenesis, Short eyelashes OMIM:150400
Neurofibromatosis Type 2
Neoplasm of the skin, Intracranial meningioma, Astrocytoma, Meningioma, Posterior subcapsular cat... ORPHA:637
Trichodental Dysplasia
Fine hair, Hypodontia, Brittle hair, Odontodysplasia, Conical tooth, Slow-growing hair, Sparse hair OMIM:601453
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Ataxia, Cerulean cataract, Optic disc pallor OMIM:616732
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid, Abnormal anterior eye segment morph... ORPHA:209956
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormality of dental morphology, Abnormal toenail... ORPHA:248
Dermochondrocorneal Dystrophy
Irregular tarsal ossification, Subepithelial corneal opacities, Corneal dystrophy, Anterior corti... OMIM:221800
Taurodontism
Taurodontia OMIM:272700
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Abnormal hair morphology, Abnormality of the metaphysis, Irregular hype... ORPHA:2591
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Hypoplasia of the maxi... ORPHA:363417
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Joint Laxity, Short Stature, And Myopia
Iris coloboma, Retinal detachment, Chorioretinal coloboma, Osteopenia OMIM:617662
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Hypoplasia of the iris, Retinal dysplasia,... OMIM:310600
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Kniest Dysplasia
Gait disturbance, Hip contracture, Recurrent otitis media, Delayed epiphyseal ossification, Retin... OMIM:156550
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Abnormality of toe, Hypopigmentation of the skin, Osteopenia, Abnormality of finger, Ab... OMIM:163200
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Fibrous dysplasia of the bones, Rickets, Increased circulating cortisol ... ORPHA:249
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Lens coloboma, Microspherophakia, Lens subluxation OMIM:157151
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Oculotrichodysplasia
Carious teeth, Widely spaced primary teeth, Sparse eyelashes, Microdontia of primary teeth, Spars... OMIM:257960
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Hypophosphatemia, Osteopenia, Hypocalcemia, Flared metaphysis, Me... OMIM:619073
Cataract, Ataxia, Short Stature, And Mental Retardation
Ataxia, Posterior subcapsular cataract OMIM:300619
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta OMIM:614832
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Macular edema, Increased cup-to-disc ratio, Pos... ORPHA:280914
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis mor... ORPHA:2501
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Micrognathia, Metaphyseal cupping, Hip contracture, Bowing of the long bones, Toot... OMIM:156400
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... OMIM:152950
Hypophosphatasia, Infantile
Decreased calvarial ossification, Hypercalcemia, Short lower limbs, Bowing of the legs, Failure t... OMIM:241500
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypopigmentation of the fundus, Retinal detachment, Cataract, Increased bone mineral density, Abn... ORPHA:163649
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Enamel hypoplasia, Alopecia, Carious teeth OMIM:614564
Oculoskeletodental Syndrome
Hypercalcemia, Developmental cataract, Oligodontia, Low anterior hairline, Macroglossia, Small fo... OMIM:618440
Ruijs-Aalfs Syndrome
Hepatocellular carcinoma, Posterior subcapsular cataract, Elbow flexion contracture OMIM:616200
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Carious teeth, Hypocalcemic tetany, Hypocalcemic seiz... ORPHA:93324
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Albers-Schönberg Osteopetrosis
Carious teeth, Abnormality of epiphysis morphology, Generalized osteosclerosis, Arthritis, Abnorm... ORPHA:53
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Genu varum, Abnormal hip bone morphology, Alopecia, Hypophosphatemia, Abnormal bone st... ORPHA:93160
Fryns Macrocephaly
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Everted lower lip... OMIM:600302
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Hypopigmentation of hair, Narrow mouth, Generalized hyperpigment... ORPHA:1355
Tooth Agenesis, Selective, X-Linked, 1
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... OMIM:313500
Kniest Dysplasia
Rhegmatogenous retinal detachment, Laryngotracheomalacia, Aplasia/Hypoplasia of the lens, Vitreor... ORPHA:485
Peroxisome Biogenesis Disorder 10A (Zellweger)
Micrognathia, High palate, Cataract, Epiphyseal stippling OMIM:614882
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding OMIM:600907
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, ... ORPHA:67036
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Sparse eyelashes, Abnormal dental enamel morphology, Fifth finger ... OMIM:257850
Werner Syndrome
Meningioma, Retinal degeneration, Osteoporosis, Osteosarcoma, Cataract OMIM:277700
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Fragile nails, Cataract ORPHA:254704
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Cataract OMIM:204200
Spondyloocular Syndrome
Retinal detachment, Cataract, Osteopenia OMIM:605822
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Developmental cataract, Fair hair OMIM:618808
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Galactosemia Iv
Cataract OMIM:618881
Cerebellofaciodental Syndrome
Fine hair, Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, ... OMIM:616202
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Hemangioma, Hyperostosis, Exostoses, Heterochromia iridis, Ab... ORPHA:2969
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Alopecia totalis OMIM:240150
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal arter... OMIM:193220
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Rod-cone dystrophy, Ataxia, Cataract, I... OMIM:136300
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Corneal opacity, Cataract OMIM:613153
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... ORPHA:94089
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Micrognathia, High palate, 2-3 toe syndactyly, Eruption failure, Long philtrum, Fa... ORPHA:476126
Hyperparathyroidism 4
Hypercalcemia, Osteopenia OMIM:617343
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Sturge-Weber Syndrome
Optic atrophy, Visceral angiomatosis, Hyperostosis, Conjunctival telangiectasia, Capillary hemang... ORPHA:3205
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Comedonal acne, Retinal dystrophy, Iris coloboma, Absent foveal refle... OMIM:615147
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Alport Syndrome
Posterior subcapsular cataract, Nephritis, Diffuse leiomyomatosis, Retinal flecks, Anterior lenti... ORPHA:63
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Posterior subcapsular cataract, Laryngotracheomalacia, Neutropenia, Osteopenia, Limited elbow ext... OMIM:271510
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Papillorenal Syndrome
Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc coloboma, Macular ... OMIM:120330
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Calvarial osteosclerosis, Osteopenia, Metacarpal periosteal thickening, Hyperphosp... OMIM:617994
Alstrom Syndrome
Chronic active hepatitis, Tubulointerstitial nephritis, Nephritis, Hyperostosis frontalis interna... OMIM:203800
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Astigmatism, Posterior subcapsular cataract, Bilateral camptodactyly, Joint laxity OMIM:619234
Brittle Cornea Syndrome
Decreased corneal thickness, Gait disturbance, Corneal erosion, Corneal scarring, Keratoglobus, I... ORPHA:90354
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrophy, Atax... ORPHA:3156
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta, Recurrent loss of toenails and fingernails OMIM:245660
Hypophosphatemic Rickets
Hypercalcemia, Abnormal lower limb bone morphology, Fibrous dysplasia of the bones, Rickets, Fail... ORPHA:437
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Thin bony cortex, Tibial bowing, Hypocalcemic seizures, Rickets, Failure to thrive, S... ORPHA:289157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Cataract OMIM:615181
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Nance-Horan Syndrome
Retinal detachment, Microcornea, Cataract ORPHA:627
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Highly arched eyebrow, Cleft palate, Diastema, Microdontia, Talon cusp, Synoph... OMIM:605282
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Xerostomia, Hyperpigmentation of the skin, Nail dystrophy, Alopecia, Clubb... OMIM:175500
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis OMIM:619248
Temple Syndrome
Micrognathia, Cleft palate, High palate, Short philtrum, Small for gestational age, Small hand, B... OMIM:616222
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Metaphyseal dysplasia, Epiphyseal dysplasia OMIM:614732
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Small for gestational age, Hyperpigmented nevi, Failure to thr... ORPHA:2980
Mucopolysaccharidosis Type 4
Carious teeth, Wide mouth, Abnormality of epiphysis morphology, Bowing of the long bones, Abnorma... ORPHA:582
Spondylodysplastic Ehlers-Danlos Syndrome
Radioulnar synostosis, Posterior subcapsular cataract, Increased susceptibility to fractures, Gen... ORPHA:536471
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Decreased movement range in interphalangeal j... OMIM:609115
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Usher Syndrome Type 2
Carious teeth, Microdontia, Abnormal dental enamel morphology, Iris hypopigmentation, Abnormality... ORPHA:231178
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:607624
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Incontinentia Pigmenti
Gait disturbance, Eosinophilia, Infectious encephalitis, Retinal hemorrhage, Verrucae, Retinal va... ORPHA:464
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... ORPHA:209943
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ataxia, Craniosynostosis, Retinal degeneration OMIM:225755
Retinal Detachment
Retinal detachment OMIM:180050
Mucopolysaccharidosis, Type Iva
Carious teeth, Widely spaced teeth, Epiphyseal deformities of tubular bones, Wide mouth, Mandibul... OMIM:253000
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Mucolipidosis Iv
Dystonia, Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Growth Hormone Insensitivity Syndrome
Fine hair, Failure to thrive, Delayed eruption of teeth, Abnormality of the mouth, Hypercholester... ORPHA:181393
Mucopolysaccharidosis, Type Ivb
Carious teeth, Widely spaced teeth, Epiphyseal deformities of tubular bones, Wide mouth, Mandibul... OMIM:253010
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... OMIM:618729
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Odontomicronychial Dysplasia
Slow-growing nails, Premature eruption of permanent teeth, Short nail, Thin nail, Abnormality of ... ORPHA:1811
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cataract, Retinopathy, Microcornea OMIM:616171
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Osteopenia, Infantile hypercalcemia, Generalized osteoporosis ORPHA:99879
Clark-Baraitser syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Tapered finger, Maxillary lateral in... OMIM:300602
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Hirsutism, Rocker bottom foot, Long philtrum, Failure to thrive, Second metatarsal ... OMIM:214150
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Mandibular prognathia, Metaphy... OMIM:265900
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Tibial bowing, Thin bony cortex, Fibular bowing, Hypocalcemic seizures, Rickets, F... OMIM:277440
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia... OMIM:612462
Hemifacial Atrophy, Progressive
Poliosis, Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion, ... OMIM:141300
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Tooth abscess ORPHA:89937
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Ataxia, Limb ataxia, Gait ataxia OMIM:614322
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Short finger, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Ena... OMIM:103580
Antiphospholipid Syndrome, Familial
Keratitis, Central retinal artery occlusion, Retinal detachment, Autoimmune thrombocytopenia, Scl... OMIM:107320
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Bone cyst ORPHA:2668
Cataract 47
Microcornea, Cataract OMIM:612018
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Trichoodontoonychial Dysplasia With Bone Deficiency
Anodontia, Nail dystrophy, Melanocytic nevus, Enamel hypoplasia, Nail dysplasia, Sparse hair, Sup... OMIM:275450
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... OMIM:193510
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Failure to thrive, Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Oste... OMIM:259700
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Tapered finger, Maxillary lateral in... OMIM:300431
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy OMIM:616722
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract, Retinal dystrophy OMIM:617547
Chanarin-Dorfman Syndrome
Ataxia, Subcapsular cataract OMIM:275630
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... ORPHA:209959
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Myotonic Dystrophy 2
Iridescent posterior subcapsular cataract OMIM:602668
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration, Ataxia, Flexion contracture OMIM:256730
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Corneal erosion, Macular degeneration, Inflammatory abnormal... ORPHA:816
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, Hypodontia, Dens in dente, 2-3 toe syndactyly, Vertebral fusio... OMIM:263540
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Cleft palate, High palate, Pierre-Robin sequence, Hip contracture, S... OMIM:618363
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Micrognathia, Small for gestational age, Rocker bottom foot, Cataract, Ca... OMIM:610756
Pycnodysostosis
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Ridged nail, Abnorm... OMIM:265800
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
2Q24 Microdeletion Syndrome
Toe syndactyly, Cleft palate, Short philtrum, Small for gestational age, Abnormality iris morphol... ORPHA:1617
Kenny-Caffey Syndrome, Type 1
Carious teeth, Small hand, Calvarial osteosclerosis, Hypomagnesemia, Decreased skull ossification... OMIM:244460
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Stickler Syndrome, Type I
Retinal detachment, Osteoarthritis, Membranous vitreous appearance, Cataract OMIM:108300
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Aniridia 2
Aniridia, Cataract OMIM:617141
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Talipes equinovarus, Small for gestational age, Congenital bilateral hip dislocation, ... ORPHA:85288
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract OMIM:604307
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Abnormal fingernail morphology, Craniosynostosis, Osteoporosis, Abnormal... ORPHA:1515
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Oculofaciocardiodental Syndrome
Ectopia lentis, Iris coloboma, Flexion contracture of the 4th toe, Retinal detachment, Flexion co... ORPHA:2712
Hypercalcemia, Infantile, 1
Thick lower lip vermilion, Weight loss, Infantile hypercalcemia, Failure to thrive OMIM:143880
Nance-Horan Syndrome
Developmental cataract, Supernumerary maxillary incisor, Diastema, Broad finger, Screwdriver-shap... OMIM:302350
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Morning glory a... OMIM:612109
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Sanjad-Sakati Syndrome
Micrognathia, Long philtrum, Patchy osteosclerosis, Abnormal dental enamel morphology, Thin vermi... ORPHA:2323
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Isolated Aniridia
Aniridia, Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Mevalonic Aciduria
Fluctuating splenomegaly, Nuclear cataract, Leukocytosis, Optic disc pallor, Normocytic hypoplast... OMIM:610377
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Retinal nonattachment, Reti... OMIM:221900
Classic Homocystinuria
Optic atrophy, Abnormality of retinal pigmentation, Ectopia lentis, Osteoporosis, Retinal detachm... ORPHA:394
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Cataract, Delayed eruption of teeth, Hypocalcemia ORPHA:2238
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Micrognathia, High, narrow palate, Premature loss of teeth, Upper limb undergrowth... ORPHA:369837
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Kohlschutter-Tonz Syndrome-Like
Widely spaced teeth, Carious teeth, 2-3 toe syndactyly, Smooth philtrum, Obesity, Small hand, Dro... OMIM:619229
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, High palate, Failure to thrive, Rhizomelia, Osteopenia, Stippled calcification prox... OMIM:222765
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Sparse eyelashes, Midline notch of upper alveolar r... OMIM:129540
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Calcinosis, Short 5th metacarpal, Hypocalcemic seizures, Short 3rd metacarpa... ORPHA:79444
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Increased blood urea nitrogen... ORPHA:251004
Marshall Syndrome
Irregular proximal tibial epiphyses, Cleft palate, Pierre-Robin sequence, Irregular distal femora... OMIM:154780
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Anemia, Arthritis ORPHA:375
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Highly arched e... ORPHA:166108
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Failure to thrive, Arthrogryposis multiplex congenita, Hip dislocation... OMIM:212540
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Retinal dysplasia, Retinal dystrophy, Chorioretina... ORPHA:899
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Otodental Dysplasia
Hypodontia, Pulp calcification, Taurodontia, Long philtrum OMIM:166750
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cleft palate, Small hand, Malar flattening, Short foot, Cataract, Abnormal hand morphology OMIM:300261
Hypophosphatasia, Childhood
Carious teeth, Bowing of the legs, Craniosynostosis, Elevated plasma pyrophosphate, Premature los... OMIM:241510
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
X-Linked Endothelial Corneal Dystrophy