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Gene: Sparc MGI:98373

Gene Summary

Name:

secreted acidic cysteine rich glycoprotein

Synonyms:

BM-40, osteonectin

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating alanine transaminase level	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.32×10^-06
decreased body length	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.30×10^-08
increased lactate dehydrogenase level	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.80×10^-06
abnormal coat/ hair morphology	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.70×10^-06
cataract	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.29×10^-12
abnormal tooth morphology	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.92×10^-07
increased circulating calcium level	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.54×10^-05
decreased bone mineral content	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.88×10^-05
increased circulating creatine kinase level	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.99×10^-06
abnormal tibia morphology	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.44×10^-07
abnormal humerus morphology	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.22×10^-06
abnormal lens morphology	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.85×10^-12
abnormal eye morphology	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.15×10^-07
decreased body weight	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.03×10^-05
abnormal incisor color	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.12×10^-09
decreased bone mineral density	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.51×10^-05
abnormal coat/hair pigmentation	Sparc^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.66×10^-07

Download data as: TSV XLS

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Viewing: all phenotypes

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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	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
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

Sparc^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

View all 154 images

Sparc^{tm1a(EUCOMM)Wtsi}
eye, exophthalmos, cataracts, HOM, Female, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
eye, cataracts, HOM, Female, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
eye, cataracts, HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
eye, cataracts, HOM, Female, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
eye, cataracts, HOM, Male, WTSI

View all 20 images

Sparc^{tm1a(EUCOMM)Wtsi}
brain, megacephaly, HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
megacephaly, brain, HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
abnormal incisor color, HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
abnormal incisor color, lower jaw incisor, HOM, Male, WTSI

Sparc^{tm1a(EUCOMM)Wtsi}
abnormal incisor color, HOM, Male, WTSI

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.

Human diseases associated with Sparc (1 diseases)
Human diseases predicted to be associated with Sparc (1261 diseases)

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		Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Hip di...	OMIM:616507

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

Disease	Matching phenotypes	Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth	OMIM:615887
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
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	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
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
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
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta	ORPHA:79129
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret...	ORPHA:179
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Cataract	OMIM:300719
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Alopecia Antibody Deficiency	Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/...	ORPHA:1006
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin...	ORPHA:251393
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac...	ORPHA:93296
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Epidermolysis Bullosa, Junctional 4, Intermediate	Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,...	OMIM:619787
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration	OMIM:615458
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con...	OMIM:300424
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Waddling gait, Retinal detachment, Corneal opacity, Osteoporosis, Abnor...	ORPHA:2788
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Gyrate Atrophy Of Choroid And Retina	Macular thickening, Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy	OMIM:258870
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Jalili Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:1873
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular 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, Osteopathia striata, Abnormal pelvic girdle bone morphology, A...	ORPHA:2779
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hypercalcemia, Abnormality of the dentition, Developmental cataract, Abnor...	ORPHA:557003
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Schwannomatosis, Vestibular	Astrocytoma, Ataxia, Bilateral vestibular schwannoma, Retinal hamartoma, Epiretinal membrane, Opt...	OMIM:101000
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Bronchiectasis, Rod-cone dyst...	OMIM:615434
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Onycholysis, Marked delay in eruption of permanent teeth, Yel...	OMIM:104570
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin...	ORPHA:2222
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-co...	OMIM:204200
Trichodentoosseous Syndrome	Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails	OMIM:190320
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Exudative Vitreoretinopathy 5	Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T...	OMIM:613310
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Posterior subcapsular cataract, Cataract, Osteoporosis	OMIM:616200
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Crani...	ORPHA:436
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Ataxia, Rod-cone dystrophy, Achilles tendon contracture, Optic atrophy, Dysmetria, Subc...	OMIM:612674
Uveal Melanoma	Retinal detachment, Iris melanoma, Choroidal melanoma, Inferior lens subluxation, Abnormal fundus...	ORPHA:39044
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Trichomegaly	Cataract	OMIM:190330
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d...	OMIM:616188
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ...	ORPHA:3352
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Stickler Syndrome Type 1	Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Joint hyperflex...	ORPHA:90653
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Autosomal Recessive Stickler Syndrome	Retinal detachment, Cataract, Joint hyperflexibility, Vitreoretinopathy, Astigmatism	ORPHA:250984
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Abnormal dental morphology, Abnormali...	ORPHA:69087
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Cataract	OMIM:615995
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to...	ORPHA:2228
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Delayed pubic bone ossification, Cataract, Limited elbow extension	ORPHA:1856
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Abnormal vitreous humor morphology, Joint hypermobility	OMIM:604841
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Osteoporosis, Joint hyperflexibilit...	ORPHA:85194
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Ataxia, Cerulean cataract	OMIM:616732
Trichodental Dysplasia	Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair	OMIM:601453
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t...	ORPHA:248
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Taurodontism	Taurodontia	OMIM:272700
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Full Nf2-Related Schwannomatosis	Astrocytoma, Remnants of the hyaloid vascular system, Glioma, Bilateral vestibular schwannoma, Re...	ORPHA:637
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Posterior subcapsular cataract, Ataxia	OMIM:300619
Infantile Myofibromatosis	Hypercalcemia, Abnormal hair morphology, Bone cyst, Limitation of joint mobility, Osteolysis, Gin...	ORPHA:2591
Peroxisome Biogenesis Disorder 10A (Zellweger)	Epiphyseal stippling, Cataract, High palate, Micrognathia	OMIM:614882
Rubinstein-Taybi Syndrome 2	Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talo...	OMIM:613684
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Filippi Syndrome	2-4 toe syndactyly, Hypertrichosis, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion bor...	OMIM:272440
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Increased bone mineral density, Cataract, Delayed patellar ossification, Abno...	ORPHA:163649
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Oste...	ORPHA:2848
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In...	OMIM:602080
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Spondyloocular Syndrome	Osteopenia, Retinal detachment, Cataract, Posterior subcapsular cataract, Unsteady gait, Thin bon...	OMIM:605822
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal c...	OMIM:156400
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ...	ORPHA:485
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Recurrent fractures, Abnormal...	OMIM:163200
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract	OMIM:268020
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Elbow flexion contracture, Low anterior hairline, Devel...	OMIM:618440
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Kniest Dysplasia	Hip contracture, Retinal detachment, Cataract, Tracheomalacia, Delayed epiphyseal ossification, L...	OMIM:156550
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Ataxia, Band keratop...	OMIM:267750
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, A...	OMIM:241500
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ...	ORPHA:67036
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia, Craniosynostosis	OMIM:614732
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Abnormal oral cavity morphology, Narrow ...	ORPHA:1355
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Cataract, Optic nerve hypoplasia, Flexion contracture, Epiphyseal stippling, Zonular ...	OMIM:222765
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Cataract, Osteoporosis, Short metatarsal, Obesity, H...	OMIM:612462
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr...	OMIM:257850
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor	OMIM:616390
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener...	ORPHA:53
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormality of the ...	ORPHA:93160
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Hypero...	ORPHA:2969
Eales Disease	Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic...	ORPHA:40923
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Morm Syndrome	Cataract, Retinal dystrophy, Retinal atrophy	ORPHA:75858
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of th...	OMIM:264700
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Iris coloboma, Joint hypermobility, Chorioretinal coloboma	OMIM:617662
Epidermolysis Bullosa, Junctional 1A, Intermediate	Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail dystrophy, Enamel hypopla...	OMIM:226650
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem...	OMIM:605282
Flynn-Aird Syndrome	Increased bone mineral density, Cataract, Ataxia, Joint stiffness, Osteoporosis, Increased bone d...	OMIM:136300
Galactosemia Iv	Cataract	OMIM:618881
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Osteoporosis, Corneal scarring, Increased...	ORPHA:90354
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thu...	ORPHA:476126
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Jalili Syndrome	Bone spicule pigmentation of the retina, Carious teeth, Retinal pigment epithelial mottling, Yell...	OMIM:217080
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Ataxia, Retinal dystrophy, Abnormality of bone min...	ORPHA:3156
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and...	OMIM:261900
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Vacuolated lymphocytes, Flexion contracture, Optic atrophy, Macular degeneration, Retinal...	OMIM:256730
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Usher Syndrome Type 2	Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Microdon...	ORPHA:231178
Alstrom Syndrome	Cone/cone-rod dystrophy, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephri...	OMIM:203800
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Joint laxity, Posterior subcapsular cataract, Astigmatism, Bilateral camptodactyly	OMIM:619234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity	OMIM:613153
Alport Syndrome	Diffuse leiomyomatosis, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, ...	ORPHA:63
Mucopolysaccharidosis Type 4	Bowing of the long bones, Corneal opacity, Abnormal dental enamel morphology, Coxa valga, Grayish...	ORPHA:582
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Small fo...	ORPHA:2980
Nance-Horan Syndrome	Microcornea, Retinal detachment, Cataract	ORPHA:627
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Abnormally ossified vertebrae, Cataract, Osteoarthritis, Limitation of joint ...	ORPHA:1427
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration	OMIM:267760
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na...	ORPHA:1811
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm...	OMIM:604625
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal...	OMIM:618392
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesit...	OMIM:300602
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Posterior subcapsular cataract, Delayed ossification of carpal bones, Neutropenia, La...	OMIM:271510
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Stickler Syndrome, Type I	Retinal detachment, Cataract, Joint stiffness, Osteoarthritis, Arthritis, Vitreoretinopathy, Memb...	OMIM:108300
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, S...	ORPHA:289157
Mucopolysaccharidosis, Type Ivb	Joint laxity, Mandibular prognathia, Corneal opacity, Joint stiffness, Epiphyseal deformities of ...	OMIM:253010
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Cachexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Nail dysp...	OMIM:175500
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Corneal opacity, Joint hypermobility, Sagittal craniosyn...	ORPHA:536471
Nance-Horan Syndrome	Diastema, Developmental cataract, Microcornea, Posterior Y-sutural cataract, Mulberry molar, Broa...	OMIM:302350
Incontinentia Pigmenti	Retinal detachment, Cataract, Corneal opacity, Skin rash, Camptodactyly of finger, Eosinophilia, ...	ORPHA:464
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ...	OMIM:618729
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ...	OMIM:141300
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Comedonal acne,...	OMIM:615147
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Small for gestational age, Congenital bilateral hip dislocation, Talipes equinovarus, H...	ORPHA:85288
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Spinocerebellar Ataxia, Autosomal Recessive 12	Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration	OMIM:614322
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, High anterior hairline, Sparse scalp hair	OMIM:620062
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
2Q24 Microdeletion Syndrome	Cataract, Toe syndactyly, Camptodactyly of finger, Small for gestational age, Long fingers, Bulle...	ORPHA:1617
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Cataract, Short toe, Osteoporosis, Short metatarsal,...	OMIM:103580
Cataract 47	Microcornea, Cataract	OMIM:612018
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
Werner Syndrome	Cataract, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density, Meningioma, Retina...	OMIM:277700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph...	OMIM:609115
Chanarin-Dorfman Syndrome	Subcapsular cataract, Ataxia	OMIM:275630
Myotonic Dystrophy 2	Posterior subcapsular cataract, Iridescent posterior subcapsular cataract	OMIM:602668
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
3-Methylglutaconic Aciduria, Type Viib	Cataract, Ataxia, Flexion contracture, Recurrent pneumonia, Choreoathetosis, Leukopenia, Neutrope...	OMIM:616271
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Micrognathia, High, na...	ORPHA:166108
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Antiphospholipid Syndrome, Familial	Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl...	OMIM:107320
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Alopecia, Delayed epiphyseal ossification, Rickets, ...	OMIM:600785
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Cataract, Ataxia, Optic atrophy, Distal arthrogryposis	OMIM:619833
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Joint stiffness, Corneal erosion, Macular degeneration, Reti...	ORPHA:816
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai...	ORPHA:2325
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess	ORPHA:89937
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Ectopia lentis, Flexion contracture of the 4th toe, Microcornea, Ra...	ORPHA:2712
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract, Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening	OMIM:300261
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Mucopolysaccharidosis, Type Iva	Joint laxity, Mandibular prognathia, Coxa valga, Epiphyseal deformities of tubular bones, Grayish...	OMIM:253000
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, F...	OMIM:259700
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Short metatarsal, Blue irides, Advanced ossification of ...	OMIM:614613
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Exudative retinal detachment, Retinal fold, Subretinal ...	ORPHA:209956
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Recurrent fractures, Joint sti...	ORPHA:394
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont...	ORPHA:1264
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Cataract, Osteoporosis, Short metatarsal, Obesity, E...	OMIM:612463
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Cortical subperi...	ORPHA:94089
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of th...	OMIM:277440
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia	ORPHA:2668
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Skin rash, Ataxia, Fluctuating spleno...	OMIM:610377
Rhizomelic Chondrodysplasia Punctata	Alopecia, Cataract, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiph...	ORPHA:177
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Alopecia, Erythrodontia, Loss of eyelashes, Osteolysis, Corneal scarr...	OMIM:263700
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal...	OMIM:244460
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes...	OMIM:615145
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Limitation of joi...	ORPHA:2741
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Walker-Warburg Syndrome	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ...	ORPHA:899
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe...	OMIM:618363
Anti-Glomerular Basement Membrane Disease	Retinal detachment, Arthritis, Anemia	ORPHA:375
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Cataract, Abnormal fingernail morphology, Abnormality of the dentition	ORPHA:2278
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p...	OMIM:257980
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Den Hoed-De Boer-Voisin Syndrome	Smooth philtrum, Delayed eruption of teeth, Thick eyebrow, Sandal gap, Carious teeth, Overweight,...	OMIM:619229
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Papillorenal Syndrome	Joint laxity, Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpi...	OMIM:120330
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Eem Syndrome	Finger syndactyly, Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth...	ORPHA:1897
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Iris coloboma	ORPHA:2143
Otodental Syndrome	Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car...	ORPHA:2791
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Craniosynostosis, Mi...	ORPHA:369837
Lowry-Maclean Syndrome	Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, nar...	ORPHA:2409
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Vacuolated lymphocytes, Dysmetria, Dysdiadochokinesis, Loss of ambulation, Retinal degene...	OMIM:256731
Pseudohypoparathyroidism Type 1C	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Short metacarpal...	ORPHA:79444
Cohen Syndrome	Short metacarpal, Bone spicule pigmentation of the retina, Thick eyebrow, Small for gestational a...	OMIM:216550
Zika Virus Disease	Maculopapular exanthema, Skin rash, Optic disc hypoplasia, Macular atrophy, Thrombocytopenia, Ret...	ORPHA:448237
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Retinal detachment, Distal joint laxity, Generalized joint laxity, Recurrent pneumoni...	ORPHA:1900
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin...	OMIM:255800
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Knobloch Syndrome 2	Retinal detachment, Vitreoretinopathy, Anterior cortical cataract, Vitreous floaters	OMIM:618458
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology, ...	ORPHA:177910
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Recurrent fractures, Hypercalcemia, Craniosynostosis, Obesity,...	ORPHA:251004
Sanjad-Sakati Syndrome	Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormal...	ORPHA:2323
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Gracile Bone Dysplasia	Failure to thrive, Flared metaphysis, Slender long bone, Hypocalcemia, Aniridia, Decreased skull ...	OMIM:602361
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int...	ORPHA:93284
Marshall Syndrome	Retinal detachment, Cataract, Ectopia lentis, Osteoarthritis, Abnormal vitreous humor morphology,...	ORPHA:560
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Retinal degeneration	OMIM:204500
Smith-Magenis Syndrome	Retinal detachment, Joint stiffness, Microcornea, Gait disturbance, Chronic otitis media	ORPHA:819
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Astigmatism, Widely...	OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long eyelashes, Long philtrum, Incisor macrodo...	OMIM:615502
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Ataxia, Macular coloboma, Macular atrophy, Geographic atrophy, Retin...	OMIM:619260
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Progressive cerebellar atax...	ORPHA:284289
Rhabdoid Tumor	Hypercalcemia, Weight loss	ORPHA:69077
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormality of the dentit...	ORPHA:573
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Cataract	OMIM:614876
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract	OMIM:613763
Rabin-Pappas Syndrome	Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Tracheomalacia	OMIM:620155
Bardet-Biedl Syndrome 16	Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th...	OMIM:190351
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Failure to thrive, Abnormal denta...	ORPHA:3019
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Hypophosphatasia, Childhood	Elevated plasma pyrophosphate, Premature loss of primary teeth, Craniosynostosis, Carious teeth, ...	OMIM:241510
Cerebellofaciodental Syndrome	Cataract, Tapered finger, Sparse eyebrow, Dental malocclusion, Shortening of all distal phalanges...	OMIM:616202
Hypomelanosis Of Ito	Syndactyly, Alopecia, Cataract, Macular hypopigmented whorls, streaks, and patches, Thick lower l...	OMIM:300337
Wilson-Turner Syndrome	Thin upper lip vermilion, Cataract, Micrognathia, Tapered finger, Malar prominence, Small hand, S...	ORPHA:3459
Axial Spondylometaphyseal Dysplasia	Osteopenia, Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Delayed ...	ORPHA:168549
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Usher Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Cataract, Abnormal dental ename...	ORPHA:886
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Monosomy 13Q34	Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Hor...	ORPHA:96168
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Recurrent pneumonia, Optic atrophy, Rod-cone dystrophy, Re...	OMIM:602271
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip...	OMIM:619795
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra...	ORPHA:666
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Maculopapular exanthema, Eosinophilia, Ker...	OMIM:308300
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Sparse hair, Microdontia, Juv...	ORPHA:2909
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Micrognathia, Tapered finger, Thin vermilion border, Hypocalcemia, Long phi...	ORPHA:1438
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Joint hyperflex...	ORPHA:1571
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany...	ORPHA:79443
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, Tented upper lip vermilion, White eyelashes, Whi...	ORPHA:894
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Joint hypermob...	ORPHA:2714
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Cataract, Small for gestational age, Rocker bottom ...	OMIM:214150
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Hyperparathyroidism, Neonatal Severe	Calcinosis, Recurrent fractures, Hypercalcemia, Hypophosphatemia, Failure to thrive, Metaphyseal ...	OMIM:239200
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Subcapsular cataract, Ataxia, Difficulty walking	ORPHA:98907
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Cataract, Toe syndactyly, Reduced bone mineral density, Abno...	ORPHA:2611
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Erythrokeratodermia Variabilis	Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Tapered finger, Abnormal hair morphol...	ORPHA:317
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Retinal detachment, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling	OMIM:609616
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract, Micrognathia, Thick lower lip vermilion, Low anterior hairline, Widely-spaced maxillary...	OMIM:608227
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ...	OMIM:615704
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail	OMIM:601319
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Down-sloping shoulders, Carious teeth, Synophrys, Joint hype...	ORPHA:1390
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma...	ORPHA:2334
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of...	ORPHA:88630
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opa...	ORPHA:61
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Refsum Disease, Classic	Rod-cone dystrophy, Cataract, Ataxia, Retinal degeneration	OMIM:266500
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Micrognathia, Elbow f...	OMIM:618156
Dahlberg-Borer-Newcomer Syndrome	Cataract, Generalized hirsutism, Hypocalcemia, Anonychia, Short distal phalanx of finger, Brachyd...	ORPHA:1563
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Iris coloboma	OMIM:222448
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Hepatoerythropoietic Porphyria	Osteopenia, Erythrodontia, Abnormal circulating porphyrin concentration, Scarring alopecia of sca...	ORPHA:95159
Scheie Syndrome	Corneal opacity, Retinal degeneration	OMIM:607016
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr...	OMIM:236670
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract, Broad hallux, High, narrow palate, Hypermobility of interphalangeal joints, Malar flatt...	ORPHA:3433
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosp...	OMIM:241410
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Autoimmune Hypoparathyroidism	Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypoca...	ORPHA:36913
Renpenning Syndrome	Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Cataract, Macrodontia, Cachexia, ...	ORPHA:3242
Galactokinase Deficiency	Nuclear cataract, Cataract, Hepatosplenomegaly	ORPHA:79237
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Punctate cataract, Optic atrophy, Posterior Y-sutural cataract, Capilla...	OMIM:607812
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen...	ORPHA:3214
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ...	ORPHA:289
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Rickets, Corneal scarring, Developmental cataract, Patholo...	OMIM:309000
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe...	ORPHA:73263
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ab...	ORPHA:93323
Cataract 49	Posterior cortical cataract	OMIM:619593
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Flexion contracture, Optic atrophy, Retinal dysplasia	OMIM:253800
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment	ORPHA:436182
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Weight loss	ORPHA:97289
Metatropic Dysplasia	Cataract, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness,...	ORPHA:2635
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Hypocalcemia, Widely spaced teeth, Microdontia, Sparse hair, An...	OMIM:218330
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Hip disloc...	OMIM:203550
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Rothmund-Thomson Syndrome Type 2	Osteopenia, Patellar hypoplasia, High palate, Microdontia, Sparse hair, Juvenile cataract, Short ...	ORPHA:221016
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Hyperpigmentation of the skin, Hypoplasia of the maxilla...	ORPHA:50814
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Abnorma...	ORPHA:166011
Late-Onset Isolated Acth Deficiency	Hyponatremia, Failure to thrive, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, General...	ORPHA:199299
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Recurrent skin infections, Craniosynostosis, Generalized joint laxity, Astigm...	ORPHA:2953
Infantile Sialic Acid Storage Disease	Osteopenia, Failure to thrive, Conjugated hyperbilirubinemia, Gingival overgrowth, High palate, F...	OMIM:269920
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Intermediate Uveitis	Anterior uveitis, Cataract, Psoriasiform dermatitis, Vitreous haze, Band keratopathy, Epiretinal ...	ORPHA:279914
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Capillary hemangioma, Leukocoria, Reduced bone mineral density	ORPHA:1556
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Retinal detachment, Limited elbow movement, Vitreoretinopathy, Limited hip movemen...	OMIM:183900
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Retinal detachment, Abnormally ossified vertebrae, Limited elbow movement, Osteopo...	ORPHA:94068
X-Linked Agammaglobulinemia	Alopecia, Sinusitis, Osteomyelitis, Hypopigmented skin patches, Weight loss, Arthritis, Glossopto...	ORPHA:47
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Cataract, Rhizomelia, Proximal placement of thumb, Micrognathia, Downtu...	ORPHA:93267
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Hypopigmentation of the skin, Abnormality of hair texture, De...	OMIM:601957
Leber Congenital Amaurosis 4	Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Microdontia, Sparse hair, Juvenile cataract, Short phalanx of fi...	ORPHA:221008
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Delayed eruption of teeth, Hypoplastic iliac wing, Narrow mouth, Small hand, Gingival...	OMIM:235510
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Keratoconus, Joint laxity, Retinal detachment, Recurrent pneumonia, Osteoporosis, Mic...	OMIM:225400
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Developmen...	OMIM:127000
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Ataxia, Retinal degeneration	ORPHA:3363
Facioscapulohumeral Muscular Dystrophy 1	Exudative retinal detachment, Retinal telangiectasia	OMIM:158900
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Abnormality of the dentitio...	OMIM:129500
Zimmermann-Laband Syndrome	Micrognathia, Overtubulated long bones, High palate, Absent fingernail, Bifid uvula, Supernumerar...	ORPHA:3473
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Weight loss, Increased circulati...	ORPHA:95409
Marfan Syndrome	Osteopenia, Retinal detachment, Flat cornea, Arthralgia/arthritis, Limited elbow movement, Ectopi...	ORPHA:558
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Ataxia	ORPHA:85334
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Teeth Present At Birth	Natal tooth	OMIM:187050
Rothmund-Thomson Syndrome, Type 2	Cataract, Osteoporosis, Squamous cell carcinoma, Microcornea, Basal cell carcinoma, Zonular catar...	OMIM:268400
Mucolipidosis Iii Alpha/Beta	Craniosynostosis, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Retina...	OMIM:252600
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Cerebellar-Facial-Dental Syndrome	Cataract, Foot joint contracture, Micrognathia, Tapered finger, Sparse eyebrow, Dental malocclusi...	ORPHA:444072
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, B...	OMIM:132450
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Abnormal distal phalanx morphology of finger, Micrognathia, Ulnar deviation of finger, ...	ORPHA:1387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Waardenburg Syndrome, Type 3	Mandibular prognathia, Partial albinism, Camptodactyly of finger, Synophrys, Blue irides, Hypopig...	OMIM:148820
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Abnormal bone ...	ORPHA:175
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Flexion contracture, Retinal degeneration	OMIM:615249
Addison Disease	Hyponatremia, Failure to thrive, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Weight loss, ...	ORPHA:85138
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract	OMIM:146200
2P21 Microdeletion Syndrome	Failure to thrive, Long eyelashes, Hypocalcemia	ORPHA:163693
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Congenital Erythropoietic Porphyria	Osteopenia, Hypopigmentation of the skin, Erythrodontia, Abnormal circulating porphyrin concentra...	ORPHA:79277
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Brittle Cornea Syndrome 1	Keratoconus, Joint laxity, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, ...	OMIM:229200
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Failure to thrive, Cataract, Congenital hip dislocation, Toe syndactyly, Super...	ORPHA:217346
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Aicardi Syndrome	Retinal detachment, Cataract, Block vertebrae, Chorioretinal lacunae, Recurrent pneumonia, Optic ...	OMIM:304050
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Baralle-Macken Syndrome	Cataract, Tapered finger, High, narrow palate, Obesity, Cafe-au-lait spot, Hirsutism	OMIM:619255
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Camptodactyly of finger, Micrognathia, Malar prominence, Osteoporosis, Microcornea, Lon...	ORPHA:48431
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Choroidal neovascularization, Joint hypermobility	OMIM:608895
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Micrognathia, D...	OMIM:610756
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Joint hypermobility, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rh...	ORPHA:85410
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Developmental cataract, Cont...	OMIM:616716
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Metaphysea...	OMIM:618476
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Cataract, Ataxia, Hepatosplenomegaly, Stomatocytosis, Zonular cataract	ORPHA:168577
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Cataract, Ataxia, Inability to walk, Splenomegaly, Nuclear cataract, Stomatocyt...	OMIM:608885
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Broad hallux, Sandal gap, Conical tooth, Persistence of primary teeth, Scarring alopeci...	OMIM:618727
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Down-sloping shoulders, Micrognathia, Knee flexion contracture, Astigmatism, Widely spa...	OMIM:619694
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Micrognathia, Microcornea, Iris transillumination defec...	OMIM:617306
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Cronkhite-Canada Syndrome	Alopecia, Cataract, Abnormal fingernail morphology, Generalized hyperpigmentation, Cachexia, Tape...	ORPHA:2930
Martsolf Syndrome 2	Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Camptodactyly, Decrea...	OMIM:619420
Stickler Syndrome	Retinal detachment, Cataract, Ectopia lentis, Osteoarthritis, Abnormal vitreous humor morphology,...	ORPHA:828
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va...	OMIM:608940
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr...	OMIM:241530
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Hypoplastic toenail...	ORPHA:904
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hypopigmentation of hair, Obesity, Wide mouth, Hypopigmentation of the ski...	ORPHA:411515
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont...	ORPHA:364577
Alpha-Heavy Chain Disease	Alopecia, Hypocalcemia	ORPHA:100025
Frontonasal Dysplasia 1	Cataract, Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic fr...	OMIM:136760
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, Failure to thrive	OMIM:226700
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Flexion contracture, Ataxia, Sutural cataract	OMIM:201470
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Hypopigm...	ORPHA:53271
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Carious teeth, Scarring alopecia of scalp, Spars...	OMIM:612843
Short Syndrome	Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal dental enamel morphology, Abnormality ...	ORPHA:3163
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract, Dysmetria	OMIM:619780
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Small for gestation...	OMIM:607143
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Stiff Skin Syndrome	Retinal detachment, Limitation of joint mobility	ORPHA:2833
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo...	OMIM:239000
Flynn-Aird Syndrome	Alopecia, Cataract, Cachexia, Joint stiffness, Carious teeth, Bone cyst	ORPHA:2047
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Senior-Loken Syndrome 9	Osteopenia, Retinal dystrophy, Tubulointerstitial nephritis, Macular degeneration, Rod-cone dystr...	OMIM:616629
Steinert Myotonic Dystrophy	Endometrial carcinoma, Brain neoplasm, Choroidal melanoma, Inability to walk, Posterior subcapsul...	ORPHA:273
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Microcornea, Clinodactyly of the 5th finger, S...	ORPHA:2710
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Ricket...	OMIM:268315
Pheochromocytoma--Islet Cell Tumor Syndrome	Axillary freckling, Cafe-au-lait spot, Hypercalcemia	OMIM:171420
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Astigmatism, Macular atrophy	OMIM:610356
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Gingival bleeding, Albinism	OMIM:614072
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Cataract, Congenital hip dislocation, Epiphyseal dysplasia,...	OMIM:617913
Peroxisome Biogenesis Disorder 7A (Zellweger)	Cataract, Elevated circulating hexacosanoic acid concentration, Epiphyseal stippling, Elevated ci...	OMIM:614872
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Macular degeneration, Tip-toe gait, Spastic gait, Retinal degeneration	OMIM:604360
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote...	ORPHA:29073
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Cataract, Corneal opacity, Ataxia, Joint stiffness, Splenomegaly, Flex...	ORPHA:581
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera...	ORPHA:2221
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,...	OMIM:129400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Hurler Syndrome	Corneal opacity, Joint stiffness, Splenomegaly, Cranial hyperostosis, Flexion contracture, Hepato...	OMIM:607014
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism	OMIM:612526
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Absent fingernail, Synostosis...	ORPHA:3258
Obesity And Hypopigmentation	Red hair	OMIM:620195
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Unsteady gait, Retinal degeneration	OMIM:520000
Smith-Magenis Syndrome	Retinal detachment	OMIM:182290
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L...	OMIM:186500
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Celiac Disease, Susceptibility To, 1	Alopecia, Osteoporosis, Rickets, Weight loss, Recurrent aphthous stomatitis, Hypocalcemia, Stomat...	OMIM:212750
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypoplasia, Brachyda...	ORPHA:2643
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Pheochromocytoma	Cafe-au-lait spot, Hypercalcemia, Developmental cataract	OMIM:171300
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Abnormality of hair texture, Synophrys, Abnormality of de...	ORPHA:73223
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ...	ORPHA:453510
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Short Stature-Micrognathia Syndrome	Joint laxity, Failure to thrive, Cataract, Rhizomelia, Bowing of the legs, Coxa valga, Micrognath...	OMIM:617164
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum	OMIM:613312
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars...	OMIM:616788
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del...	OMIM:620099
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop...	ORPHA:398063
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Metatarsus addu...	ORPHA:2557
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Slender build, Narrow palate, Short upper lip, Thick vermili...	ORPHA:364028
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Hypotonia-Cystinuria Syndrome	Failure to thrive, Tented upper lip vermilion, Long eyelashes, Hypocalcemia	OMIM:606407
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ...	OMIM:249270
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Microcornea, Short philtrum, Joint contracture of the 5th finger, Clinodac...	ORPHA:363611
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R...	ORPHA:289176
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Abnormality of the dentition, Absent eyelashes, ...	ORPHA:90153
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteo...	ORPHA:763
Alg12-Cdg	Retinal detachment, Recurrent pneumonia, Abnormal bone ossification, B lymphocytopenia, Chronic r...	ORPHA:79324
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Juvenile cataract, Rod-cone dystrophy	ORPHA:436245
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Cutis Laxa, Autosomal Recessive, Type Iiia	Cataract, Congenital hip dislocation, Joint hypermobility, Low plasma citrulline, Hip dislocation...	OMIM:219150
Oculorenocerebellar Syndrome	Choreoathetosis, Retinal degeneration	OMIM:257970
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Camptodactyly of finger, Band keratopat...	OMIM:186580
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Gingival o...	OMIM:259720
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Acanthocytosis, Fractures of the long bones, Optic atrophy, C...	ORPHA:157850
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema...	ORPHA:667
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Cheilitis, Obesi...	ORPHA:247353
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Micrognathia, Postaxial hand polydactyly, Alveolar ridge overgrowth, Cl...	OMIM:235255
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia...	ORPHA:2831
Hsd10 Mitochondrial Disease	Choreoathetosis, Optic atrophy, Retinal degeneration	OMIM:300438
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Premature graying of hair, Clinodactyly of the 5th finger, Micro...	OMIM:194050
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Brachydactyly, Cataract, Multiple joint contractures, Selective tooth agenesis, Alope...	ORPHA:2959
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Delayed os...	OMIM:602471
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Dental crowding, Micrognathia, Narrow mouth, Hyperlipidemia, Flexion cont...	OMIM:608612
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Cataract, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphys...	OMIM:614376
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Low anterior hairli...	ORPHA:800
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior hairline, High palate,...	OMIM:212720
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Submucous cleft hard pal...	ORPHA:2804
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger...	OMIM:164200
Pycnodysostosis	Ridged nail, Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinu...	OMIM:265800
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Aspiration pneumonia, Loss of ambulation, Retinal dege...	ORPHA:79264
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Finger syndactyly, Alope...	ORPHA:3253
Spinocerebellar Ataxia 7	Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular degeneration, Pigmentary retinop...	OMIM:164500
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Inability to walk, Astigmatism, Gait disturbance, Retinal degeneration	ORPHA:168491
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Corneal opacity, Ankle flexion contracture, Astigmatism, G...	ORPHA:464311
Shox-Related Short Stature	Micrognathia, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, High palate, ...	ORPHA:314795
Marinesco-Sjögren Syndrome	Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morpho...	ORPHA:559
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Hip dislocation, Genu valgum, Developmental cataract, Narrow mouth, Thick eyebrow	ORPHA:436174
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Harrod Syndrome	Cataract, Arachnodactyly, Dental malocclusion, Hypopigmented skin patches, Abnormal shoulder morp...	ORPHA:2115
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Buphthalmos, Retinal detachment, Rieger anomaly, Primary congenital glaucoma	ORPHA:521445
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Tapered finger, Spotty hyp...	ORPHA:1867
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Optic atrophy, Uveitis, Arthritis...	ORPHA:575
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow,...	ORPHA:35173
Cinca Syndrome	Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly, Uveitis, Redu...	ORPHA:1451
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib...	OMIM:268305
Galactose Mutarotase Deficiency	Failure to thrive, Cataract, Hypergalactosemia	ORPHA:570422
Hereditary Pheochromocytoma-Paraganglioma	Aniridia, Hypercalcemia, Weight loss	ORPHA:29072
Dent Disease	Cataract, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bon...	ORPHA:1652
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Patchy osteosclerosis, Diaphyseal...	OMIM:112250
Hemochromatosis, Type 4	Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoart...	OMIM:606069
Parathyroid Carcinoma	Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Mandibular pain	ORPHA:143
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract, Abnormal palate morphology, Genu valgum	ORPHA:1381
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Elevated 8-dehydro...	OMIM:302960
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Cataract, Micrognathia, High, narrow p...	ORPHA:2780
Crisponi/Cold-Induced Sweating Syndrome 1	Tapered finger, Keratitis, Micrognathia, Narrow mouth, Carious teeth, Elbow flexion contracture, ...	OMIM:272430
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Hyperconvex fingernails, High palate, Widely spaced teeth, Advanced er...	ORPHA:192
Marfan Syndrome	Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Premature osteoarthritis, Flexio...	OMIM:154700
Cysticercosis	Abnormal optic chiasm morphology, Retinal detachment, Stiff neck, Ataxia, Iridocyclitis, Choriore...	ORPHA:1560
Timothy Syndrome	Microdontia, Thin upper lip vermilion, Hypocalcemia, Cutaneous syndactyly	OMIM:601005
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Proteus Syndrome	Central heterochromia, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, ...	ORPHA:744
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ...	ORPHA:251028
Farber Disease	Corneal opacity, Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthrit...	ORPHA:333
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Cataract, Abnormal denta...	ORPHA:1458
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Blotching pigmentation of ...	OMIM:601559
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Arthrogryposis And Ectodermal Dysplasia	Arthrogryposis multiplex congenita, Nuclear cataract, Joint contracture of the hand, Camptodactyly	OMIM:601701
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Coarse hair, Joint contract...	ORPHA:1883
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis, Developmental cataract	OMIM:617044
Multiple Sulfatase Deficiency	Splenomegaly, Retinal degeneration, Corneal opacity, Ataxia	OMIM:272200
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ...	ORPHA:238468
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Alg6-Cdg	Rod-cone dystrophy, Ataxia, Retinal degeneration	ORPHA:79320
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim...	OMIM:614700
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Dental crowding, Increased circulating free fatty acid level, Mic...	ORPHA:2457
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Cataract, Arachnodactyly, Abnormal dental enamel morp...	ORPHA:96169
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Carious teeth, Melanocytic nev...	ORPHA:377
Borjeson-Forssman-Lehmann Syndrome	Cataract, Tapered finger, Short toe, Orofacial cleft, Joint hyperflexibility, Truncal obesity, Sp...	ORPHA:127
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Arachnodactyly, White hair, Ocular albinism, Reduced bone mineral density, High palate,...	ORPHA:2720
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Astigmatis...	ORPHA:999
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Hypopla...	OMIM:108721
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul...	OMIM:259710
Cockayne Syndrome Type 2	Ataxia, Flexion contracture, Uveitis, Developmental cataract, Conjunctivitis, Gait disturbance, D...	ORPHA:90322
Cockayne Syndrome Type 3	Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Splenomegaly, Flexion contractur...	ORPHA:90324
Prader-Willi Syndrome	Osteopenia, Downturned corners of mouth, Short palm, Hypopigmentation of the skin, Iris hypopigme...	OMIM:176270
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Hypoplasia of teeth, M...	OMIM:234050
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, Downturned corners of ...	ORPHA:79500
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Ataxia, Retinal dystrophy, Hyperautofluorescen...	OMIM:209900
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal sti...	OMIM:118650
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Trichothiodystrophy 3, Photosensitive	Natal tooth, Cataract, Brittle hair, Carious teeth, Developmental cataract, Eclabion, Tiger tail ...	OMIM:616395
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Overla...	OMIM:612394
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:2136
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Retinal detachment, Recurrent skin infections, Generalized joint laxity, Microcorne...	OMIM:601776
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing	OMIM:126550
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Short palm, Sparse hair, Joint contractur...	OMIM:601812
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee...	ORPHA:98795
Prolidase Deficiency	Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Micrognathia...	ORPHA:742
Trisomy 17P	Broad eyebrow, Cataract, Micrognathia, Tapered finger, Flexion contracture, Orofacial cleft, Clef...	ORPHA:261290
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, High pa...	OMIM:211380
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Micrognathia, Postaxial hand polydactyly, Alveolar ridge overgrowth, Hi...	ORPHA:1655
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Cockayne Syndrome	Congenital contracture, Lentiglobus, Progressive gait ataxia, Retinal arteriolar constriction, Re...	ORPHA:191
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Hip di...	OMIM:616507
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypercalcemia, Mandibular pain, Hypophosphatemia	ORPHA:99880
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity	ORPHA:71526
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Cone-shape...	OMIM:309350
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Oral mucosal blisters, Narrow mouth, Flexion contracture, Corneal scarring, C...	OMIM:226600
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Craniosynostosis, Abnormality of the dentitio...	ORPHA:251038
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Proximal placement of thumb, Micrognathia, Hypopl...	OMIM:261540
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Generalized joint laxity, Delayed epiphyseal oss...	ORPHA:93357
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy, Iridocyclitis, Unsteady gait, Limb ataxia, Gait disturbance, Difficulty walking,...	ORPHA:412057
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Unsteady gait, Optic atrophy, Difficulty walking, Retinal degeneration	ORPHA:442835
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Optic atrophy, Osteopetro...	OMIM:612301
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Ceroid Lipofuscinosis, Neuronal, 10	Rod-cone dystrophy, Retinal atrophy, Ataxia	OMIM:610127
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,...	OMIM:164745
Short Syndrome	Joint laxity, Enlarged epiphyses, Rieger anomaly, Cataract, Delayed eruption of teeth, Small for ...	OMIM:269880
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Cinca Syndrome	Papilledema, Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia	OMIM:607115
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Trichothiodystrophy 1, Photosensitive	Cataract, Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Fine hair,...	OMIM:601675
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing...	OMIM:223800
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Recurrent fractures, Elevated circulating creatine kinase concentration, Micro...	ORPHA:2785
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Short metacarpal, Cataract, Block vertebrae, Tarsal synostosis, Bowed humerus, ...	OMIM:272460
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely s...	ORPHA:411511
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Reduced bone mineral density, Hyperphosphatemia, Hypoca...	ORPHA:428
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Adult Syndrome	Premature loss of permanent teeth, Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, S...	OMIM:103285
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Increased bone mineral density, Cataract, Rhizomelia, Aplastic cla...	ORPHA:50945
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den...	ORPHA:659
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Gingival overgrowth, Furrowed tongue, Fine hair, Sparse hair	ORPHA:1839
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Oro...	ORPHA:3440
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Retinal degeneration	ORPHA:542306
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned co...	ORPHA:955
Dent Disease 1	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Laryngeal papilloma, Splenomegaly, Hypereosinophilia, Thyroiditis, U...	OMIM:617388
Branchio-Oculo-Facial Syndrome	Cataract, Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Micro...	ORPHA:1297
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:580
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Conjunctival whitish salt-like deposits, Hyperostosis, Subperiosteal bone formation, ...	OMIM:211900
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased body weight, Failure to thrive, Decreased serum iron, Carious teeth, Narrow mouth, Corn...	ORPHA:89842
Down Syndrome	Joint laxity, Cataract, Sandal gap, Protruding tongue, Abnormality of the dentition, Thick lower ...	ORPHA:870
Sotos Syndrome	Joint laxity, Hip contracture, Cataract, Hypercalcemia, Ankle flexion contracture, Craniosynostos...	ORPHA:821
Poikiloderma With Neutropenia	Joint laxity, Elevated circulating creatine kinase concentration, Micrognathia, Joint stiffness, ...	OMIM:604173
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Abnormal optic chiasm morphology, Broad-based gait, Cataract, Ataxia, Retinal detachment, Astigma...	ORPHA:268261
Hsd10 Disease, Infantile Type	Optic atrophy, Choreoathetosis, Loss of ambulation, Rod-cone dystrophy, Retinal degeneration	ORPHA:391428
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Sarcoidosis	Alopecia, Cataract, Hyperpigmentation of the skin, Hypercalcemia, Bone cyst, Weight loss, Enlarge...	ORPHA:797
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Dental malocc...	OMIM:601552
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurrent pneumonia, L...	OMIM:615122
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Abno...	ORPHA:411634
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Retinal detachment	ORPHA:3218
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Cataract,...	OMIM:600373
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Prader-Willi Syndrome Due To Translocation	Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Hypopigme...	ORPHA:177907
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Abnormality of the den...	ORPHA:1806
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Arachnodactyly, Abnormal thumb morphology, L...	ORPHA:2719
Cockayne Syndrome Type 1	Cataract, Ataxia, Foot joint contracture, Optic atrophy, Uveitis, Pigmentary retinopathy, Conjunc...	ORPHA:90321
Nephronophthisis 11	Anisocoria, Retinal degeneration, Anemia	OMIM:613550
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesit...	OMIM:615418
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Multiple Endocrine Neoplasia Type 2	Joint laxity, Hypercalcemia, Prominent corneal nerve fibers, Abnormal tongue morphology, Thick ve...	ORPHA:653
Nail-Patella Syndrome	Ridged nail, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodactyl...	OMIM:161200
Lelis Syndrome	Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel...	ORPHA:140936
Dystonia-Deafness Syndrome 1	Cataract, Hypoplastic scapulae, Small for gestational age, Femoral retroversion, Cleft upper lip,...	OMIM:607371
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Rena...	ORPHA:79474
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Cataract, Micrognathia, Brushfield spots, Metatarsus adductus, Cleft palate, P...	OMIM:214110
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Cataract, Broad hallux, Dental crowding, Avascular necrosis of the cap...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Highly arched...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Highly arched...	ORPHA:353277
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cataract, Ataxia, Glomerulonephritis, Retinal pigment...	ORPHA:64
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormal fi...	ORPHA:3035
Carney Complex, Type 1	Palatine myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Conjunctivitis, Short philtrum, Sparse medial...	OMIM:616268
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe s...	OMIM:614099
Isolated Ectopia Lentis	Mandibular prognathia, Cataract, Joint stiffness, Ectopia lentis, Ectopia pupillae, Malar flattening	ORPHA:1885
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Ataxia, Splenomegaly, Lymphoma, Uveitis, Arthritis, Conjunctivitis, Infl...	ORPHA:36412
Dyskeratosis Congenita	Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Alo...	ORPHA:1775
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Open...	ORPHA:1974
Abetalipoproteinemia	Retinopathy, Ataxia, Retinal degeneration, Acanthocytosis	OMIM:200100
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Premature...	OMIM:616353
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Short palm, Malar flattening, Short 1st metacarpal, Long...	ORPHA:93328
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Abnormal pupil morphology, D...	ORPHA:534
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Ataxia, Spastic gait, Retinal degeneration	OMIM:270700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Micrognathia, Hypoplastic frontal sinuses, Small hand, Cleft palate, Sh...	OMIM:300712
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Mandibular prognathia, Hypopigmentation of hair, Protruding ton...	ORPHA:98794
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thick eyebr...	ORPHA:585
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op...	ORPHA:50
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Cataract, Osteoporosis	OMIM:601811
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Retinal degeneration, Craniosynostosis	ORPHA:166035
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Cataract, Developmental glaucoma, Flexion contracture, Osteoporosis, Elbow flexion co...	OMIM:614438
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo...	ORPHA:139471
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Pterygium, Bifid uvula, Osteomalacia, ...	ORPHA:2671
Retinoblastoma	Abnormality of retinal pigmentation, Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemo...	ORPHA:790
Vici Syndrome	Everted upper lip vermilion, Cataract, Median cleft lip, Elevated circulating creatine kinase con...	OMIM:242840
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Sandal gap, Malar prominenc...	ORPHA:2715
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Micrognathia, Abnormal pupil morphology, ...	ORPHA:233
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Flexion contracture, Developmental c...	OMIM:300166
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Ataxia, Retinal dystrophy	ORPHA:370022
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, M...	OMIM:618150
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Gingival fibromatosis, Osteolysis, Increased susceptibility to fractures, Reduced ...	ORPHA:652
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Seckel Syndrome 10	Retinal detachment, Acute pancreatitis, Elevated hemoglobin A1c	OMIM:617253
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Chorioretinitis, Iritis, Hypopyon	OMIM:109650
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Short metacarpal, Radial bowing, Club-shaped proxi...	OMIM:108720
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Sh...	OMIM:608328
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Cataract, Skin rash, Camptodactyly of finger, Kera...	ORPHA:90340
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Micrognathia...	ORPHA:284160
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Corneal dystrophy, Abnormal dental enamel morphology, Carious tee...	ORPHA:3194
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Tubulointerstitial nephritis, Posterior uveitis,...	ORPHA:91500
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, High palate, Abnorm...	ORPHA:861
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Rocker bottom foot, ...	ORPHA:163979
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Sparse eyelashes, Carious teeth, Osteoporosis, Pterygium of nails, Reticular h...	OMIM:224230
Cockayne Syndrome A	Hip contracture, Cataract, Ataxia, Retinal atrophy, Splenomegaly, Retinal pigment epithelial mott...	OMIM:216400
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,...	OMIM:618019
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Spa...	OMIM:619016
Weill-Marchesani Syndrome 1	Cataract, Joint stiffness, Ectopia lentis, Broad metatarsal, Hypoplasia of the maxilla, Microsphe...	OMIM:277600
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Aceruloplasminemia	Retinal degeneration, Ataxia, Anemia	OMIM:604290
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Ataxia, Akinesia, Limb ataxia, Gait ataxi...	ORPHA:48818
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Micromelia, Micrognathia, Short long bone, Talipes equinovaru...	OMIM:224410
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
22Q11.2 Deletion Syndrome	Micrognathia, Short philtrum, Hypocalcemia, Arachnodactyly, Abnormal dental enamel morphology, Ob...	ORPHA:567
Glucagonoma	Stomatitis, Glossitis, Hypercalcemia, Weight loss	ORPHA:97280
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Retrognathia, C...	OMIM:192430
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia	ORPHA:466722
Primary Intestinal Lymphangiectasia	Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Osteoporosis, Small hand, Obesity...	ORPHA:398079
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
3Q29 Microdeletion Syndrome	Cataract, Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, Abnorma...	ORPHA:65286
Double Outlet Right Ventricle	Submucous cleft hard palate, Cleft palate, Hypocalcemia, Narrow mouth, Failure to thrive	ORPHA:3426
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Retinal degeneration	OMIM:615630
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Limitation of ...	ORPHA:728
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Failure to thrive, Multiple cafe-au-lait spots	ORPHA:100
Colchicine Poisoning	Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc...	ORPHA:31824
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract, Flexion contracture of finger	ORPHA:1010
Occipital Horn Syndrome	Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula...	OMIM:304150
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Coarse hair, Micro...	ORPHA:1896
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration...	ORPHA:37042
Multiple Endocrine Neoplasia, Type I	Cafe-au-lait spot, Hypercalcemia	OMIM:131100
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulatin...	ORPHA:36234
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Clinodactyly of the...	OMIM:266920
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Ataxia, Retinal degeneration, Acanthocytosis	OMIM:615558
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Spotty hypopigmentation, Agenesis...	OMIM:210900
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration, Craniosynostosis	OMIM:250410
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Chorioretinitis, Panuveitis, Panniculitis, O...	OMIM:301081
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Hypert...	OMIM:619479
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, High, narrow palate, Abn...	ORPHA:3472
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Failure to thrive in infancy, Hypocalcemia, Equinus calcaneus	ORPHA:746
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Retinal hemorrhage, Uveitis, Granulomatosis, Conjunctivitis, ...	OMIM:608710
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Hypoa...	OMIM:613658
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Smith-Lemli-Opitz Syndrome	Sclerocornea, Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Iris colobom...	ORPHA:818
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Osteoporosis, Obesit...	ORPHA:98754
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Abnormal dental enamel morphology, Ocular a...	ORPHA:79430
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Gingival bleeding, F...	OMIM:619172
Chand Syndrome	Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi...	ORPHA:1401
Acro-Renal-Ocular Syndrome	Vertebral fusion, Hypoplasia of the ulna, Cataract, Finger syndactyly, Broad hallux phalanx, Shor...	ORPHA:959
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Small for gestational age, Small ...	ORPHA:177901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi...	OMIM:253280
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Cataract, Joint stiffness, Hypop...	ORPHA:2588
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Cataract, Rocker bottom foot, Tapered finger, Narrow mouth, Absent axil...	OMIM:601353
Vipoma	Hypokalemia, Hypercalcemia, Weight loss	ORPHA:97282
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid...	OMIM:143095
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Failure to thrive	ORPHA:70472
Shigellosis	Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative...	ORPHA:810
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Retinal degeneration, Gait ataxia	OMIM:618479
Hallermann-Streiff Syndrome	Recurrent fractures, Uveitis, Reduced bone mineral density, Developmental cataract, Rib exostoses...	ORPHA:2108
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Abnormality of the dentition, Hypoplastic iliac wing, Avascu...	ORPHA:93315
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Osteoporosis, Obesit...	ORPHA:98793
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna	ORPHA:2491
Frontorhiny	Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal s...	ORPHA:391474
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Osteoporosis, Obesit...	ORPHA:177904
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Sparse ...	OMIM:139210
Waardenburg Syndrome, Type 1	Mandibular prognathia, Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys...	OMIM:193500
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
Transketolase Deficiency	Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal...	ORPHA:140
Chops Syndrome	Curly hair, Cataract, Thick hair, High, narrow palate, Synophrys, Obesity, Downturned corners of ...	OMIM:616368
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He...	ORPHA:227990
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Abnormalit...	ORPHA:79282
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o...	ORPHA:3261
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Somatostatinoma	Hypercalcemia, Weight loss	ORPHA:97283
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial ...	OMIM:219800
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Osteopetrosis	OMIM:618541
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Vacuolated lymphocytes, Limb ataxia, Gait ataxia, Retinal degeneration	OMIM:248500
Grfoma	Hypercalcemia, Weight loss	ORPHA:97261
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Zollinger-Ellison Syndrome	Hypercalcemia, Weight loss	ORPHA:913
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Generalized morning stiffness, Iridocycliti...	ORPHA:85436
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He...	ORPHA:227982
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Flexion contracture, Osteoporosis...	ORPHA:398069
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Abnormality of the dentition, Small hand, Osteoporosis, Inc...	ORPHA:739
Mend Syndrome	Cataract, Broad hallux, Overlapping toe, Micrognathia, Asymmetry of the mouth, Long fingers, Elev...	ORPHA:401973
Pearson Syndrome	Cataract, Small for gestational age, Hypomagnesemia, Corneal stromal edema, Pigmentary retinopath...	ORPHA:699
Lathosterolosis	Thick upper lip vermilion, Cataract, Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Os...	OMIM:607330
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Retinal degeneration, Gait disturbance, Difficulty walking	ORPHA:79244
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short nail, Cone-shaped epiphyses of the phalanges of the ha...	ORPHA:420794
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe, Absent eyeb...	OMIM:264090
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality...	ORPHA:56305
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Cataract, Radial deviation of the hand, Sandal gap, Short hum...	OMIM:607323
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Cataract, Thin nail, Coxa valga, Hypoplastic iliac wing, Long fingers, ...	OMIM:617561
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Short femur, Dental crowding, Micr...	OMIM:300990
Neurocardiofaciodigital Syndrome	Syndactyly, Failure to thrive, Cataract, Small for gestational age, Sclerocornea, Sparse eyebrow,...	OMIM:619869
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Erythematous oral mucosa, Keratoconjunctivitis, Furrowed tongue, Coarse hair,...	OMIM:158310
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Micrognathia, Synophrys, Low anterior hairline, S...	OMIM:619841
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
Joubert Syndrome 6	Retinal degeneration, Ataxia, Chorioretinal coloboma	OMIM:610688
Localized Scleroderma	Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has...	ORPHA:90289
Juvenile Xanthogranuloma	Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Catel-Manzke Syndrome	Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Joint laxit...	OMIM:616145
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Pre...	OMIM:619488
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Say-Barber-Miller Syndrome	Eczema, Craniosynostosis, Erythema nodosum, Elbow flexion contracture, Optic atrophy, Knee flexio...	ORPHA:3132
Menkes Disease	Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f...	ORPHA:565
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P...	ORPHA:31204
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Abnormal retin...	ORPHA:727
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Obesity, Hyperbilirubinemia	OMIM:609734
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra...	ORPHA:125
Gaucher Disease, Type I	Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Pathologic ...	OMIM:230800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, Long eyela...	OMIM:615877
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Mend Syndrome	Microretrognathia, Failure to thrive, Cataract, Broad hallux, Overlapping toe, Micrognathia, Long...	OMIM:300960
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Johanson-Blizzard Syndrome	Joint laxity, Sparse scalp hair, Failure to thrive, Small for gestational age, Increased VLDL cho...	OMIM:243800
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Synophrys, Widely spaced teeth, High palate, Clinodactyly of...	OMIM:612474
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Nephritis, Early ossification of capital femoral epiphyses, Retinal degeneration	OMIM:208500
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormality of macular pigmentation	ORPHA:1573
Yunis-Varon Syndrome	Congenital hip dislocation, Sclerocornea, Micrognathia, Short metatarsal, Short philtrum, Absent ...	OMIM:216340
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Microcor...	ORPHA:199
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ...	ORPHA:32960
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Microdontia, Cleft ...	OMIM:604292
Chédiak-Higashi Syndrome	Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid...	ORPHA:167
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Bifid uvula, Hypoplasia o...	OMIM:218600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Cataract, Gingival overgrowth, Rhizom...	ORPHA:508542
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Microcornea, Dow...	OMIM:619539
Whipple Disease	Myositis, Pericarditis, Ataxia, Myocarditis, Splenomegaly, Uveitis, Arthritis, Infectious encepha...	ORPHA:3452
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gingivitis, Giant melanosomes in mel...	OMIM:214500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology	ORPHA:935
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Large...	ORPHA:96334
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Synophrys, Downturned corners of mouth, Short philtrum, Sparse hair, Premature loss o...	ORPHA:3455
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Autosomal Recessive Spastic Paraplegia Type 11	Inability to walk, Retinal degeneration, Ataxia, Gait disturbance	ORPHA:2822
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Few cafe-au-lait spots, Sandal gap...	OMIM:620330
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Sparse hair, Wr...	OMIM:268300
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Ungual fibroma, Patchy atrophy of the retinal pigment epithe...	ORPHA:1433
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Hyperconvex nail, Wide distal femoral metaphysis, Postaxial hand...	OMIM:269150
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Choreoathetosis, Bradykinesia, Pigmentary retino...	OMIM:234200
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Retinal degeneration	ORPHA:96179
Isotretinoin-Like Syndrome	Hypocalcemia, Cleft palate, Micrognathia	ORPHA:2306
Cerebrocostomandibular Syndrome	Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Mic...	OMIM:117650
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Metaphyseal widening, Osteoporosis, Incr...	OMIM:259770
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization	ORPHA:404451
Viss Syndrome	Joint laxity, Chronic gastritis, Retinal detachment, Exostosis of the external auditory canal, Ec...	OMIM:619472
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Sparse eyelashes, Camptodactyly of finger, Hypoplasia of the maxilla, Sparse eyebrow, W...	ORPHA:306542
Bohring-Opitz Syndrome	Retinal atrophy, Inability to walk, Limitation of joint mobility, Bilateral wrist flexion contrac...	ORPHA:97297
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint stiffness, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Synovit...	ORPHA:85408
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis	ORPHA:91546
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Carious teeth, Reticulated skin pi...	OMIM:305000
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Dry hair, Elevated circulating alpha-fetoprotein concentration, Micro...	OMIM:619991
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymit...	ORPHA:1304
Charge Syndrome	Hypoplasia of the ulna, Cataract, Down-sloping shoulders, Cleft upper lip, Absent radius, Short t...	OMIM:214800
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Cataract, Large for gestational age, Abnormal thumb morphology, Metatarsus adductus, Tibial bowin...	ORPHA:500095
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Macular degeneration, Dysdiadochokinesis, Shuffling gait	ORPHA:247234
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral densi...	ORPHA:47159
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Thyroiditis, Ulcerative c...	ORPHA:171
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Optic neuropathy, Iridocyclitis, Splenomegaly, Bone cyst, Bronchiectasis, Uveitis, ...	OMIM:181000
Igg4-Related Thyroid Disease	Sialadenitis, Hypocalcemia	ORPHA:64744
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Small for gestational age, Abnormality of iron homeostasi...	ORPHA:84064
Rift Valley Fever	Skin rash, Retinitis, Thrombocytopenia, Hepatitis, Uveitis, Macular edema, Retinal hemorrhage, Re...	ORPHA:319251
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Splenomegaly, Bronchiectasis, Uveitis	OMIM:612387
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Gitelman Syndrome	Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia, Failure to thrive	ORPHA:358
Digeorge Syndrome	Sclerocornea, Micrognathia, High, narrow palate, Obesity, Cleft palate, High palate, Hypocalcemia...	OMIM:188400
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Orchitis, Neutrop...	ORPHA:99826
Leprosy	Abnormality of the spleen, Uveitis, Steppage gait, Iritis, Corneal perforation, Corneal ulceration	ORPHA:548
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Short femur, Flexion contracture, Orofacial cleft, Polydac...	ORPHA:17
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Cleft palate, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Leptospirosis	Papilledema, Pericarditis, Skin rash, Hepatitis, Uveitis, Retinal hemorrhage, Chorioretinitis, Op...	ORPHA:509
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Ataxia, Dysmetria, Abnormal fundus morphology, Macular degeneration, Dys...	ORPHA:94147
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb	OMIM:314390
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Septic arthritis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial synostosis, Hypoplasia ...	ORPHA:3404
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Failure to thrive, Sinusitis	ORPHA:83471
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Corneal opacity, Eczema, Camptodactyly of finger, Keratitis, Corneal erosion, Cheil...	ORPHA:2273
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, High, narrow palate, Tooth ...	OMIM:309800
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu...	ORPHA:93126
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Thick eyebrow, Tapered finger	OMIM:618367

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sparc

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sparc.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Sparc^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Sparc^{tm2a(EUCOMM)Wtsi}	PMC6459510
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.	PLoS genetics (October 2014)	Sparc^{tm1a(EUCOMM)Wtsi}	PMC4207618
Loss of SPARC protects hematopoietic stem cells from chemotherapy toxicity by accelerating their return to quiescence.	Blood (May 2014)	Sparc^{tm1a(EUCOMM)Wtsi}	24833352
Robust and sensitive analysis of mouse knockout phenotypes.	PloS one (December 2012)	Sparc^{tm1a(EUCOMM)Wtsi}	PMC3530558
Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength.	PLoS genetics (August 2012)	Sparc^{tm1a(EUCOMM)Wtsi}	PMC3410859
The mouse genetics toolkit: revealing function and mechanism.	Genome biology (June 2011)	Sparc^{tm1a(EUCOMM)Wtsi}	PMC3218837

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sparc^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Sparc^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Sparc^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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