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Gene: Tyr MGI:98880

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tyrosinase
Synonyms:
skc35,  Oca1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tyr mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation OMIM:615674
Tietz Albinism-Deafness Syndrome
Hypopigmentation of the fundus, Heterochromia iridis, White eyebrow, White eyelashes, Generalized... OMIM:103500
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... OMIM:619165
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Renal agenesis, Cryptorchidism OMIM:219050
Albinism, Ocular, Type I
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism OMIM:300500
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Color vision defect, Retinal nonattachment, Iris hypopigmentati... ORPHA:99000
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Birdshot Chorioretinopathy
Abnormal choroid morphology, Abnormal retinal vascular morphology, Retinal detachment, Optic disc... ORPHA:179
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy, Abnormality of skin pigmentation OMIM:300719
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Reduced visual acui... OMIM:309300
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Redu... OMIM:203100
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism OMIM:614171
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:620199
Macular Dystrophy, Retinal, 2
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... OMIM:608051
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Visual loss, Retinopath... ORPHA:94058
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism ORPHA:370091
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Bothnia Retinal Dystrophy
Color vision defect, Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mot... ORPHA:85128
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Retinopathy ORPHA:79476
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ... OMIM:601706
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Hypoplasia of the fovea, Iris transillum... OMIM:619172
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Reduced terminal:vellus ratio, Blindness, Choriocapillaris atrophy, Subreti... OMIM:601553
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... OMIM:203200
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Tritanomaly, Patchy atrophy of the retinal pigment epit... ORPHA:67042
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Retinal flecks, Cone/cone-rod dystrophy, Macular atr... OMIM:603649
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Hypopigmentation of the fundus, Retinal pigment epithelial mottli... ORPHA:75377
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Retinitis Pigmentosa 73
Color vision defect, Constriction of peripheral visual field, Epiretinal membrane, Peripapillary ... OMIM:616544
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Premature gray... OMIM:611584
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Dyschromatopsia, Peripheral retinal atrophy, Central scotoma... OMIM:136550
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Blurred vision, Vit... ORPHA:209943
Hermansky-Pudlak Syndrome 4
Albinism, Hypoplasia of the fovea, Ocular albinism OMIM:614073
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Late-Onset Retinal Degeneration
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Chorioreti... OMIM:605670
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma ORPHA:168
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Myopic astigmatism, Ocular albinism, Moderate hypermetropia, High myopia, Astig... OMIM:614077
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Progressive visual loss, Drusen, Macular scar OMIM:615439
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Color vision defect, Metamorphopsia, Choroideremia, Visual field de... ORPHA:1243
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Subretinal fluid, Reduced visual acuity, Macular dystrophy, Visual ... OMIM:153700
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Visual field d... OMIM:613731
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular dystrophy, Macular atrophy, Visual impairment OMIM:600110
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinal Cone Dystrophy 1
Color vision defect, Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy, Progr... OMIM:180020
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Retinitis Pigmentosa 48
Macular degeneration, Visual impairment, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Spermatocele, Male infertility, Nephrolithiasis OMIM:301060
Microphthalmia, Isolated 6
Microcornea, Amblyopia, Retinal fold, Ocular hypertension, High hypermetropia OMIM:613517
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... OMIM:131960
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration, Reduced visual ... OMIM:617879
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Visual impairment, Retinal degeneration OMIM:618513
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Albinism, Hypoplasia of the fovea, Ocular albinism OMIM:614074
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration, Reduced visual acuity OMIM:616118
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Oliver-Mcfarlane Syndrome
Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo... OMIM:275400
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:615725
Progressive Hemifacial Atrophy
Heterochromia iridis, Irregular hyperpigmentation ORPHA:1214
Retinitis Pigmentosa 31
Visual field defect, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Ro... OMIM:609923
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Visual impairment, Peripheral retinal atrophy, Comedonal acne, Reduced visual acuity... OMIM:615147
Optic Atrophy 6
Optic atrophy, Retinal degeneration, Red-green dyschromatopsia, Visual impairment, Photophobia OMIM:258500
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Photophobia, Hyperautofluorescent macular lesion, Attenuation... OMIM:619531
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Generalized hypopigmentation ORPHA:2720
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Hyperautofluorescent macular lesion, Retinal degeneratio... OMIM:618144
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Glaucoma 3, Primary Congenital, E
Ocular hypertension, Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Abnormal best corrected visual acuity test, Cataract, Corneal keratic precipi... ORPHA:263479
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... ORPHA:89838
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Pericentral scotoma, Par... OMIM:609021
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o... ORPHA:33445
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Abnormal retinal morphology, Albinism, Myopia, Hypopigmentation of ... ORPHA:2786
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Atte... OMIM:613750
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Metamorphopsia, Iris melanoma, Visual loss, Abnormal fundus... ORPHA:39044
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Optic disc pallor,... OMIM:601718
Glaucoma 1, Open Angle, F
Glaucomatous visual field defect, Ocular hypertension, Increased cup-to-disc ratio OMIM:603383
Stargardt Disease
Color vision defect, Abnormality of macular pigmentation, Macular degeneration, Retinal pigment e... ORPHA:827
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Color vision defect, Choroidal neovascularization, Metamorphops... OMIM:608161
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation... ORPHA:79399
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... ORPHA:3214
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Macular Degeneration, Atrophic, X-Linked
Reduced visual acuity, Macular degeneration OMIM:300834
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Cone-Rod Dystrophy 13
Color vision defect, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual acuity, Photop... OMIM:608194
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Developmental cataract OMIM:618808
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Abnormal optic nerve morphology, O... ORPHA:79430
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Morm Syndrome
Cataract, Progressive night blindness, Retinal atrophy, Visual impairment, Retinal dystrophy ORPHA:75858
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Blindness, Retinal degeneration, Reduced visual ac... OMIM:204200
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation ORPHA:2222
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail OMIM:302000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Decreased... OMIM:214500
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Reduced visual acuity, Macular atrophy,... OMIM:602499
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Myopia, Sparse hair ORPHA:3363
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Juvenile Glaucoma
Visual impairment, Abnormal optic nerve morphology, Retinal vein occlusion, Abnormality iris morp... ORPHA:98977
Retinitis Pigmentosa 9
Cataract, Macular edema, Constriction of peripheral visual field, Bone spicule pigmentation of th... OMIM:180104
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystr... OMIM:610381
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Reduced v... OMIM:616188
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Scotoma, Visual loss, Astigmatism, Nyctalopia, Hemianopia, High ... ORPHA:231183
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Constriction of peripheral visual field, Retinal degeneration, Hype... OMIM:267760
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Abnormality of vision, Posterior synechiae of the anterio... ORPHA:280921
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes, Depigmented fundus OMIM:300650
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration, Fine hair, Melanocytic nevus, Blindnes... ORPHA:1573
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Leber Congenital Amaurosis 9
Optic atrophy, Color vision defect, Keratoconus, Retinal pigment epithelial mottling, Ultra-low v... OMIM:608553
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:244200
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Asymmetry of intraocular pressu... OMIM:177650
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Neuhauser Syndrome
Megalocornea, Hypoplasia of the iris, Low anterior hairline, Iridodonesis, Retinal detachment, Ab... OMIM:249310
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Visual impairment, Abnormality of retina... ORPHA:1852
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:617304
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... OMIM:613660
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Progressive visual loss, Bone spicule pigmentati... OMIM:617781
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Reduced visual... OMIM:618826
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior synechiae of the anterior chamber, Reduced visual acuity, Retinal detachment, Retinal p... ORPHA:364055
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Ceroid Lipofuscinosis, Neuronal, 2
Progressive visual loss, Retinal degeneration OMIM:204500
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Abnormality of vision, Ocular albinism, Choroideremia, Corneal o... ORPHA:2719
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231169
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Hypogonadism, Renal insufficiency, Cryptorchidism, Testicular seminoma ORPHA:281090
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Constriction of peripheral visual field, Progressive visual loss, Rod... OMIM:613862
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Visual acuity no light perception, Bone spicule p... OMIM:618220
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Male in... ORPHA:48
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uter... OMIM:601076
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Partial albinism, Macular hypoplasia, Reduced visu... OMIM:614075
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Riboflavin Transporter Deficiency
Iris hypopigmentation, Color vision defect, Abnormality of macular pigmentation, Visual impairmen... ORPHA:97229
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Very low visual acuity, Uveal ectropion, Blurred v... ORPHA:98973
Vogt-Koyanagi-Harada Disease
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... ORPHA:3437
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Macular edema, Alopecia, Posterior synechiae of the anterior chamber... ORPHA:79098
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Achromatopsia 7
Central scotoma, Hypoplasia of the fovea, Reduced visual acuity, Achromatopsia, Macular atrophy, ... OMIM:616517
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
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, High myopia, Vitreous floaters, Retinal detachment, Mildly reduced vi... OMIM:614292
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Sjogren-Larsson Syndrome
Color vision defect, Macular degeneration, Retinal thinning, Abnormal hair morphology, Photophobi... OMIM:270200
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Ophthalmoplegia, External, And Myopia
Myopia, Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Rod-con... ORPHA:284454
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... ORPHA:79133
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... OMIM:158330
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hermansky-Pudlak Syndrome 2
Fair hair, Ocular albinism, Aberrant melanosome maturation, Reduced visual acuity, Generalized hy... OMIM:608233
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:180105
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Hermansky-Pudlak Syndrome 10
Albinism, Ocular albinism OMIM:617050
N Syndrome
Abnormality of chromosome stability OMIM:310465
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Blindness, Retinal degeneration, Progressive visual loss OMIM:256730
Cone Dystrophy 3
Cone/cone-rod dystrophy, Reduced visual acuity, Progressive visual loss, Macular atrophy, Photoph... OMIM:602093
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Visual loss, Low posterior hairline... ORPHA:85194
Retinitis Pigmentosa 51
Macular degeneration, High myopia, Attenuation of retinal blood vessels, Reduced visual acuity, B... OMIM:613464
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Visual impairment, Fine hair, Supernumerary nipple, Abnormal fingernail morpho... ORPHA:1433
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation, Cataract OMIM:261600
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Leber Congenital Amaurosis 4
Keratoconus, Blindness, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Reduced vi... OMIM:604393
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Blindness, Blurred vision, Astigmatism, Co... ORPHA:566
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:613983
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy ORPHA:46487
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Glaucoma, Primary Closed-Angle
Visual field defect, Ocular hypertension, Increased cup-to-disc ratio, Anterior synechiae of the ... OMIM:618880
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Nuchal Bleb, Familial
Stillbirth OMIM:257350
Bardet-Biedl Syndrome 16
Reduced visual acuity, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Diplopia, Rod-cone dystrophy, Myopia, Visual impairment, ... ORPHA:75382
Retinal Cone Dystrophy 3B
Scotoma, Astigmatism, Cone/cone-rod dystrophy, Reduced visual acuity, Nyctalopia, Macular atrophy... OMIM:610356
Leber Congenital Amaurosis 15
Color vision defect, Pigmentary retinopathy, Posterior subcapsular cataract, Photophobia, Constri... OMIM:613843
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Amyloidosis, Primary Localized Cutaneous, 3
Generalized hyperpigmentation, Hypermelanotic macule OMIM:617920
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity, Photop... OMIM:252650
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cat... OMIM:611131
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... ORPHA:897
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Constriction of peripheral visual field, B... OMIM:617406
Sjögren-Larsson Syndrome
Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin... ORPHA:381
Vici Syndrome
Cataract, Hypopigmentation of the skin, Hypopigmentation of the fundus, Chronic mucocutaneous can... OMIM:242840
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo... ORPHA:1816
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal... ORPHA:209959
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Obesity And Hypopigmentation
Red hair OMIM:620195
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, Testicular ... OMIM:308750
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Retinitis Pigmentosa 23
Color vision defect, Posterior subcapsular cataract, Severely reduced visual acuity, Constriction... OMIM:300424
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Peripheral vi... OMIM:612095
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Endometriosis, P... OMIM:613680
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abnormality... OMIM:251270
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism,... OMIM:308700
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone sp... OMIM:613617
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Abnormality of macular pigmentation, Visual impairment, Central scotoma, Ast... OMIM:300476
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Aland Island Eye Disease
Astigmatism, Giant melanosomes in melanocytes, Hypopigmentation of the fundus, Hypoplasia of the ... OMIM:300600
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm... ORPHA:79402
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Alopecia Totalis
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails ORPHA:700
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Attenuation of retinal blood vessels,... ORPHA:791
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Constriction of peripheral visual field, High myopi... OMIM:210370
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Hydrocolpos, Renal agenesis, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal ... ORPHA:3411
Cone-Rod Dystrophy 21
Reduced visual acuity, Nyctalopia, Macular atrophy, Photophobia, Retinal dystrophy OMIM:616502
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Epis... OMIM:600057
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Dyschromatopsia, Central retinal exudate, Progressive visual los... OMIM:264420
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Night Blindness, Congenital Stationary, Type 1C
Abnormality of skin pigmentation, Congenital stationary night blindness OMIM:613216
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... ORPHA:1390
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Jalili Syndrome
Visual impairment, Retinal pigment epithelial mottling, Scotoma, Attenuation of retinal blood ves... OMIM:217080
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Macular Dystrophy, Retinal, 3
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Reduced visual acuity,... OMIM:608850
Immunodeficiency 54
Chromosome breakage OMIM:609981
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Progressive visual loss OMIM:164500
Phenylketonuria
Hypopigmentation of the skin ORPHA:716
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Abnormal auditory evoked potentials, High hypermetropia, Attenuation of retinal blood v... OMIM:619260
Renal Agenesis
Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Bilateral renal agenesis, Aplasia... ORPHA:411709
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Self-Improving Dystrophic Epidermolysis Bullosa
Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region ORPHA:79411
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Edinburgh Malformation Syndrome
Hirsutism, Low posterior hairline, Generalized hirsutism, Brushfield spots, Synophrys ORPHA:1895
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Cryptorchidism ORPHA:3306
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Cryptorchidism OMIM:618504
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Ocular hypertension, Iris coloboma, Peters anomaly OMIM:610023
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Blindness... OMIM:605549
Microcoria, Congenital
Myopia, Ocular hypertension, Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Cone-Rod Dystrophy 10
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Bone sp... OMIM:610283
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation ORPHA:834
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai... OMIM:104100
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Decreased testicular... OMIM:618086
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Ceroid Lipofuscinosis, Neuronal, 5
Progressive visual loss, Retinal degeneration OMIM:256731
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Reduced visual acuity, Ocular anterior segment dysgenes... OMIM:614195
Waardenburg Syndrome, Type 1
Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Thick eyebrow, White... OMIM:193500
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d... OMIM:129500
Retinitis Pigmentosa 45
Macular degeneration, Peripheral visual field loss, Bone spicule pigmentation of the retina, Nyct... OMIM:613767
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Reduced sperm mot... OMIM:137920
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Blindness, Blurred vision, Conjunctival hyperemia, Reduced visual... ORPHA:137599
Weill-Marchesani Syndrome 3
Microspherophakia, Ectopia lentis, High myopia, Ocular hypertension, Shallow anterior chamber OMIM:614819
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ... ORPHA:79153
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Hsd10 Mitochondrial Disease
Optic atrophy, Visual loss, Retinal degeneration OMIM:300438
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Reduced visual acuity, Corneal opacity, Ocular anterior segment dysgenesis... OMIM:269400
Usher Syndrome Type 2
Iris hypopigmentation, Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, Myopia ORPHA:231178
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Darier Disease
Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H... ORPHA:218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Optic disc pallor, Visual imp... OMIM:616171
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Amblyopia, Myopia, Retinal dystrophy OMIM:615960
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Cone-Rod Dystrophy 6
Dyschromatopsia, Attenuation of retinal blood vessels, Peripheral visual field loss, Chorioretina... OMIM:601777
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Blindness, Visual loss, Retinal degeneration, Optic disc pallor, Large ce... ORPHA:79264
Hyperostosis Cranialis Interna
Optic atrophy, Ocular hypertension, Facial palsy, Reduced visual acuity OMIM:144755
Spastic Paraplegia 23, Autosomal Recessive
Multiple lentigines, Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body ... OMIM:270750
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia, Ambiguous genitalia OMIM:618142
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Ectopic kidney,... ORPHA:2578
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation OMIM:225050
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair ORPHA:1810
Retinitis Pigmentosa 97
Macular degeneration, Iris atrophy, Reduced visual acuity, Amblyopia, Nyctalopia, Rod-cone dystrophy OMIM:620422
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Reduced visual acuity, Developmenta... OMIM:616722
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Endometriosis, A... ORPHA:363444
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Cryptorchidism, Decreased response to growth hormone s... OMIM:609757
Wyburn-Mason Syndrome
Retinal vascular malformation, Iris hypopigmentation, Visual loss ORPHA:53719
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal... ORPHA:1807
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Visual impairment, Retinal degeneration OMIM:604360
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow,... ORPHA:1791
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Angelman Syndrome
Iris hypopigmentation, Optic atrophy, Keratoconus, Hypopigmentation of the skin, Fair hair, Astig... ORPHA:72
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Tonne-Kalscheuer Syndrome
Concave nail, Small nail, Fine hair, Blue irides OMIM:300978
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Iritis ORPHA:158000
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, High myopia, Macular hypoplasia, R... OMIM:610202
Glaucoma 1, Primary Open Angle, C
Ocular hypertension OMIM:601682
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Small nail, Hypoautofluorescent retinal lesion, Periphera... OMIM:250410
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Amblyopia, Hypermetropia, Myopia, Retinal dystrophy ORPHA:370022
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Nephronophthisis 14
Retinal degeneration OMIM:614844
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Peters anomaly, Aniridia, Red... OMIM:610256
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Bardet-Biedl Syndrome 17
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615994
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism OMIM:618494
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Dyschromatopsia, Retinal atrophy, Photophobia, Visual impairment, Hemeralopia OMIM:617236
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Cataract, Microcornea, Generalized hypopigmentation OMIM:617306
Vitreoretinochoroidopathy
Color vision defect, Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Dyschr... OMIM:193220
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Familial Melanoma
Abnormal hair morphology, Retinopathy, Freckling ORPHA:618
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Visual loss, Cone/cone-rod dystrophy OMIM:249270
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Freckling, Hypoplastic toenails ORPHA:1547
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Small nail, Retinal degeneration, Absent eyelashes, Visual field defect, Absent eyebrow... ORPHA:166035
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, High myopia, Iridodone... OMIM:613195
1P36 Deletion Syndrome
Optic atrophy, Abnormality of vision, Cataract, Horizontal eyebrow, High hypermetropia, Ocular al... ORPHA:1606
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth OMIM:183300
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair OMIM:269920
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... ORPHA:626
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Vitiligo, Multiple lentigines ORPHA:101003
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Conjunctivitis, Chorioretinal atrophy... ORPHA:448237
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Deafness-Hypogonadism Syndrome
Heterochromia iridis, Congenital stationary night blindness ORPHA:90646
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Visual loss, Rod-cone dystrophy OMIM:610127
Spastic Paraplegia 15, Autosomal Recessive
Reduced visual acuity, Macular degeneration, Visual impairment, Retinal degeneration OMIM:270700
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Bicornuate uterus, Vesicoureteral reflux, Ambiguous genitalia, female OMIM:606408
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches, Onycholysis ORPHA:525
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Vesicoureter... ORPHA:2237
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Early balding, Frontal balding, Blue irides, Cafe-au-lait spot ORPHA:3041
Refsum Disease, Classic
Nyctalopia, Cataract, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Maternal Uniparental Disomy Of Chromosome X
Low posterior hairline, Hypopigmentation of the skin ORPHA:261519
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2584
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Hypogonadism, Cryptorchidism, Micropenis, Infertility ORPHA:96170
Acrofrontofacionasal Dysostosis
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Menkes Disease
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair OMIM:309400
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia, Retinal detachment ORPHA:35737
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Blind... OMIM:133780
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the s... ORPHA:1867
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule OMIM:618373
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Alopecia Universalis
Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of... ORPHA:701
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
Noonan Syndrome 13
Highly arched eyebrow, Hypertrichosis, Multiple lentigines, Low posterior hairline, Broad eyebrow... OMIM:619087
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, General... ORPHA:2930
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Micropenis OMIM:619951
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal hair morphology, Visu... ORPHA:1571
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr... OMIM:113650
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:220402
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypopigmented skin patches ORPHA:3143
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Blindness, Visual loss, Abnormality of retinal pigmentation, Retinal detachment, Lens s... ORPHA:171844
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infections, Cryptorchidism, ... OMIM:609029
Dural Sinus Malformation
Abnormality of vision, Diplopia, Visual loss, Chemosis, Papilledema, Ocular hypertension ORPHA:97339
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Reduced visual acuity, Visual impairment, Retinal degeneration OMIM:615249
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Bardet-Biedl Syndrome 1
Cataract, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Peripheral v... OMIM:209900
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Hyperpigmentation of the skin, Sparse hair, Tricho... OMIM:301845
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Visual impairment, Cataract, Cho... ORPHA:91500
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... ORPHA:167
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Progressive night blindness, Juvenile cataract, Progress... ORPHA:436245
Hsd10 Disease, Infantile Type
Optic atrophy, Blindness, Visual loss, Retinal degeneration, Rod-cone dystrophy ORPHA:391428
Vici Syndrome
Optic atrophy, Cataract, Hypopigmentation of the skin, Abnormal macular morphology, Abnormality o... ORPHA:1493
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Cataract, Dyschromatopsia, Reduced visual acuity,... ORPHA:168549
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Spermatogenic Failure 13
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615841
Traboulsi Syndrome
Cataract, Ectopia lentis, Moderate myopia, Phakodonesis, High myopia, Iris atrophy, Reduced visua... OMIM:601552
Crouzon Syndrome
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Amblyopia, Conjunctivitis, Iris col... ORPHA:207
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Birdshot Chorioretinopathy
Posterior uveitis, Vitreous floaters, Retinal pigment epithelial atrophy, Visual impairment, Abno... OMIM:605808
Sturge-Weber Syndrome
Optic atrophy, Abnormality of vision, Blindness, Abnormal choroid morphology, Heterochromia iridi... ORPHA:3205
Houge-Janssens Syndrome 2
Unilateral renal agenesis OMIM:616362
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Abnormality of vision, Retinal degeneration ORPHA:442835
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Diplopia, Macular degeneration, Tortuosity of conjunctival vessels ORPHA:284289
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin OMIM:615980
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Late Infantile Neuronal Ceroid Lipofuscinosis
Blindness, Visual loss, Astigmatism, Retinal degeneration, Reduced visual acuity, Myopia ORPHA:168491
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Trichothiodystrophy
Brittle hair, Split nail, Microcornea, Macular degeneration, Eczematoid dermatitis, Ridged nail, ... ORPHA:33364
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions ORPHA:280785
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor... ORPHA:140936
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Peripheral visual field loss, Blin... ORPHA:157850
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,... ORPHA:85167
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Cancer-Associated Retinopathy
Optic atrophy, Dyschromatopsia, Foveal hyporeflective spaces on macular OCT, Constriction of peri... ORPHA:71505
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys OMIM:614576
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration OMIM:616896
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Unilateral renal agenesis, Rectovaginal fistula, Renal agenesis OMIM:608980
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus OMIM:229200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn... ORPHA:1806
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy, Optic... OMIM:615434
Nephronophthisis 9
Retinal degeneration OMIM:613824
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Proteus-Like Syndrome
Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Heterochromia iridis, Retinal d... ORPHA:2969
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Retinopathy, Abnormality of skin pigmentation ORPHA:743
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Cataract, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnorma... ORPHA:2715
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis, Ectopic kidney OMIM:616541
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation OMIM:616353
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Fair hair, Eczematoid dermatitis, Hypermetropia, Abnormality of ... OMIM:610443
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Cerebral visu... ORPHA:177907
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Musculocontractural Ehlers-Danlos Syndrome
Astigmatism, Retinal detachment, Myopia, Ocular hypertension, Recurrent skin infections ORPHA:2953
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Abnormal female e... ORPHA:95699
Noonan Syndrome 4
Sparse eyebrow, Blue irides, High anterior hairline, Curly hair OMIM:610733
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic nerve dysplasia, Bru... OMIM:214110
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Zellweger Syndrome
Cataract, Optic atrophy, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnormal chori... ORPHA:912
Facial Spasm
Anisocoria OMIM:134300
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Ectopia pupillae, Con... OMIM:608940
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Knobloch Syndrome 1
Band keratopathy, Horizontal eyebrow, Vitreoretinopathy, Lens subluxation, Attenuation of retinal... OMIM:267750
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Pelvic kidney OMIM:610832
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Unilateral renal agenesis, Hypogonadism, Cryptorchidism, Decreased growth... OMIM:101800
Dyskeratosis Congenita, Autosomal Recessive 3
Nail dystrophy, Abnormality of skin pigmentation OMIM:613988
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Hypomelanosis Of Ito
Alopecia, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Wagro Syndrome
Cataract, Aniridia, Corneal opacity, Ocular hypertension, Visual impairment OMIM:612469
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Long eyelashes, Low anterior hairline, Retinal degeneration, Hirsutism, Keratoconjunctivitis sicc... OMIM:618479
Dowling-Degos Disease
Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp... ORPHA:79145
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Cryptorchidism OMIM:616737
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Joubert Syndrome 6
Blindness, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Incontinentia Pigmenti
Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morp... ORPHA:464
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Blindness, Buphthalmos, Leukocoria, Retinal deta... OMIM:310600
Brittle Cornea Syndrome
Corneal scarring, High myopia, Visual loss, Abnormality of hair pigmentation, Retinal detachment,... ORPHA:90354
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability OMIM:210900
Bone Marrow Failure Syndrome 3
Chromosome breakage OMIM:617052
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Hypopigmented skin patches, Chronic mucocutaneous candidiasis, Abnormal finge... ORPHA:3453
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Curry-Jones Syndrome
Generalized hirsutism, Iris coloboma, Hypopigmented skin patches, Optic disc coloboma ORPHA:1553
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis OMIM:619227
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin, Freckling OMIM:278720
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Hypercalciuria, Male infertility ORPHA:2239
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Retinal degeneration ORPHA:542306
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Coarse hair, Cataract, Constriction of peripheral visual f... ORPHA:581
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Ocular... OMIM:107250
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... ORPHA:3322
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Werner Syndrome
Cataract, Alopecia of scalp, Retinal degeneration OMIM:277700
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:600901
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Dry hair, Premature graying of hair, Abnormality of periphera... ORPHA:90324
Aceruloplasminemia
Retinal degeneration OMIM:604290
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Ectopia lentis, Brittle hair, Lens subluxation, Myopia, Visual impa... OMIM:236200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Neurofibromatosis, Familial Spinal
Lisch nodules, Cafe-au-lait spot, Freckling OMIM:162210
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Sparse hair, Onychogryposis, C... OMIM:308300
Nail-Patella Syndrome
High anterior hairline, Toenail dysplasia, Fingernail dysplasia, Antecubital pterygium, Primary c... ORPHA:2614
Leopard Syndrome 1
Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of ... OMIM:151100
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Cryptorchidism, Hydronephrosis, Renal cyst, Micropenis, P... ORPHA:464311
Pyruvate Dehydrogenase E2 Deficiency
Peripheral visual field loss, Retinal degeneration ORPHA:79244
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227650
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Melanocytic nevus, Fing... ORPHA:978
Pseudoxanthoma Elasticum
Choroidal neovascularization, Macular degeneration, Angioid streaks of the fundus, Retinal peau d... OMIM:264800
Congenital Primary Aphakia
Corneal perforation, Abnormality of vision, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia aff... ORPHA:83461
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Breast hypoplasia, Cryptorchidism, Hydronephrosis, Renal ... ORPHA:464306
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation ORPHA:457260
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Enlarged kidney, Ovarian cyst OMIM:618188
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Papillorenal Syndrome
Cataract, Macular degeneration, Lens luxation, Optic disc coloboma, Retinal coloboma, High myopia... OMIM:120330
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Alg3-Cdg
Hypopigmentation of the skin ORPHA:79321
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty hypopigmentation, ... OMIM:300860
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Retinal atrophy, Iridocyclitis ORPHA:412057
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion ORPHA:1764
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Cockayne Syndrome
Lentiglobus, Dry hair, Hypermetropia, Optic disc pallor, Corneal ulceration, Retinal dystrophy, C... ORPHA:191
Duane Retraction Syndrome
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Chor... ORPHA:233
Terminal Osseous Dysplasia
Iris coloboma, Abnormality of skin pigmentation OMIM:300244
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Primary amenor... ORPHA:90793
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Neurooculorenal Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral rena... OMIM:620305
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Angioid streaks of the fundus, Reduced visual acuity, Retinal hemorrhage, M... OMIM:177850
Acute Radiation Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227645
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Aplasia/hypoplasia of the uterus, Cryptorchidism, Hydrone... ORPHA:96121
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Retinal degeneration OMIM:252600
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal hair morphology, Abnormality of skin pigmentation, Premature graying of hair ORPHA:1979
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hypogonadism, Decreased glomerular filtr... ORPHA:85450
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve... ORPHA:8
Kniest Dysplasia
Cataract, Lens luxation, Vitreoretinopathy, High myopia, Retinal detachment, Rhegmatogenous retin... ORPHA:485
Intellectual Disability And Myopathy Syndrome
Spotty hypopigmentation, Cafe-au-lait spot OMIM:619719
Glaucoma 3, Primary Congenital, A
Buphthalmos, Ocular hypertension, Late onset congenital glaucoma OMIM:231300
Baraitser-Winter Cerebrofrontofacial Syndrome
Highly arched eyebrow, Microcornea, Optic disc coloboma, Low posterior hairline, Heterochromia ir... ORPHA:2995
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Vesicoureteral reflux OMIM:620654
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria ORPHA:79284
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... ORPHA:79239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cataract, Peters anomaly, Megalocornea, Blindness, Buphthalmos, Retinal atrophy, R... OMIM:236670
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Optic atrophy, Abnormality of skin pigmentation, Hypertrichosis OMIM:612379
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hy... OMIM:618419
Mannosidosis, Alpha B, Lysosomal
Thick eyebrow, Hypertrichosis, Low anterior hairline, Retinal degeneration OMIM:248500
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration OMIM:272200
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Supernumerary nipple, Cryptorch... OMIM:619194
Smith-Lemli-Opitz Syndrome
Precocious puberty, Unilateral renal agenesis, Renal hypoplasia, Small scrotum, Renal agenesis, B... OMIM:270400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Hypopigmentation of the skin, Recurrent skin infections, Nail dystrophy, Generalized re... ORPHA:79396
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration OMIM:239000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... ORPHA:468631
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys ORPHA:1295
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Combined Oxidative Phosphorylation Deficiency 59
Retinal degeneration OMIM:620646
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Ridged nail, Anonychia, Lester's sign, Concave nail, Antecubi... OMIM:161200
Neuroocular Syndrome 1
Highly arched eyebrow, Lens coloboma, Microcornea, Cataract, Small nail, Peters anomaly, Long eye... OMIM:619539
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Pigmentary retinopathy, Optic atrophy, Small nail, Opacification of the corneal stroma,... OMIM:614866
Spinocerebellar Ataxia Type 7
Macular degeneration, Blindness, Visual loss, Abnormal fundus morphology, Cone/cone-rod dystrophy... ORPHA:94147
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic disc pallor, Brushfi... OMIM:214100
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Cryptorchidism ORPHA:2673
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Dilatation of the renal pelvis, Recurrent urinary tract infections, De... ORPHA:268261
Pontocerebellar Hypoplasia, Type 7
Hirsutism, Optic atrophy, Hypopigmentation of the skin, Synophrys OMIM:614969
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Retinoblastoma
Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobl... ORPHA:790
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Porphyria Variegata
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis ORPHA:79473
Lumbar Syndrome
Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas... ORPHA:83628
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Optic nerve hypoplasia OMIM:618156
Adult Syndrome
Absent nipple, Fair hair, Breast hypoplasia, Alopecia of scalp, Sparse axillary hair, Hypoplastic... OMIM:103285
Hurler Syndrome
Hirsutism, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration OMIM:607014
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Cryptorchidism OMIM:620024
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Fair hair, Facial hirsutism, Nail dystrophy, Sparse eyelashes,... OMIM:604292
Kallmann Syndrome
Renal agenesis, Abnormal morphology of female internal genitalia, Breast hypoplasia, Decreased te... ORPHA:478
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Hypertrichosis, Sparse body hair, Abnormal fingernail morphology, Nai... ORPHA:678
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin, Optic neuropathy OMIM:620237
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Gapo Syndrome
Optic atrophy, Alopecia, Sparse eyebrow, Keratoconus, Hypopigmented skin patches, Sparse eyelashe... ORPHA:2067
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hypopigmentation of the skin OMIM:163200
Senior-Loken Syndrome 8
Reduced visual acuity, Rod-cone dystrophy, Macular atrophy, Visual impairment, Retinal dystrophy OMIM:616307
Duplication Of Urethra
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... ORPHA:237
Porphyria Cutanea Tarda
Hirsutism, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis ORPHA:101330
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Recurrent urinary tract infections ORPHA:221139
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Peripheral visual field loss, Retinopathy, Ab... ORPHA:580
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl... OMIM:129900
Slc35A2-Cdg
Hypopigmentation of the skin ORPHA:356961
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Shawl scrotum, ... OMIM:213980
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes OMIM:609136
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Dry hair, Retinal pig... OMIM:216400
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227646
Revesz Syndrome
Ridged fingernail, Fine hair, Megalocornea, Nail dystrophy, Leukocoria, Exudative retinopathy, Fi... OMIM:268130
Mismatch Repair Cancer Syndrome 1
Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling OMIM:276300
Alkaptonuria
Abnormality of vision, Irregular hyperpigmentation, Corneal astigmatism, Abnormality of skin pigm... ORPHA:56
Porphyria, Congenital Erythropoietic
Alopecia, Hypopigmentation of the skin, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of t... OMIM:263700
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,... ORPHA:79282
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cataract, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Buphthalmo... OMIM:253280
Neurofibromatosis Type 1
Cataract, Inguinal freckling, Abnormality of vision, Hypopigmented skin patches, Chorioretinal co... ORPHA:636
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes ORPHA:75496
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Breast aplasia, Pyelonephritis, Renal insufficiency OMIM:181270
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab... ORPHA:1772
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis, Thyroid hypoplasia OMIM:308050
Autosomal Recessive Spastic Paraplegia Type 11
Visual impairment, Orthostatic hypotension, Retinal degeneration ORPHA:2822
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cafe-au-lait spot, Hypopigmented skin patches, Curly hair ORPHA:457485
Phace Syndrome
Retinal vascular malformation, Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris ... ORPHA:42775
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Micropenis, Hypospadias, Thyroi... ORPHA:672
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias ORPHA:487796
Galloway-Mowat Syndrome 1
Optic atrophy, Cataract, Hypopigmentation of the skin, Small nail, Hypoplasia of the iris, Opacif... OMIM:251300
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hypopigmented skin pat... ORPHA:206436
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h... ORPHA:79474
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia... OMIM:219800
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Myopia, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pig... ORPHA:50814
Rothmund-Thomson Syndrome
Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen... ORPHA:2909
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal... ORPHA:322
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Visual loss, Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous ... ORPHA:247234
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Ruvalcaba Syndrome
Generalized hirsutism, Hypopigmented skin patches ORPHA:3121
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
X-Linked Agammaglobulinemia
Alopecia, Hypopigmented skin patches ORPHA:47
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration OMIM:234200
Mosaic Trisomy 8
Hypopigmentation of the skin, Hypopigmented skin patches ORPHA:96061
1P31P32 Microdeletion Syndrome
Ocular hypertension ORPHA:401986
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Cryptorchidism ORPHA:261337
Bloom Syndrome
Uveitis, Hypopigmentation of the skin, Retinopathy, Skin rash, Sparse eyelashes, Patchy alopecia,... ORPHA:125
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Blindness, Visual loss, Abnormality of retinal pigmentation, Abnormal... ORPHA:2556
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Hypopigmentation of the skin, Blindness, Loss of eyelashes, Keratoconjunct... ORPHA:95159
Gaucher Disease, Type I
Hyperpigmentation of the skin, Macular atrophy OMIM:230800
Noonan Syndrome
Coarse hair, Melanocytic nevus, Low posterior hairline, Blue irides, Abnormal hair quantity ORPHA:648
Trichohepatoenteric Syndrome 1
Fine hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Generalized hypopigmentation, Brittle h... OMIM:222470
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation ORPHA:2180
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Absent gallbladder, Polyuria OMIM:617140
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches ORPHA:1647
Say-Barber-Miller Syndrome
Optic atrophy, Sparse eyebrow, Macular degeneration, Highly arched eyebrow, Eczematoid dermatitis... ORPHA:3132
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Bicornuate uterus OMIM:154400
Focal Dermal Hypoplasia
Optic atrophy, Hypopigmentation of the skin, Visual impairment, Ectopia lentis, Chorioretinal col... OMIM:305600
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... ORPHA:84064
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Myopia, Ocular hypertension, Visual impairment ORPHA:93315
Xeroderma Pigmentosum
Optic atrophy, Alopecia, Cataract, Keratitis, Hypopigmented skin patches, Pterygium, Melanocytic ... ORPHA:910
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... ORPHA:221008
Dyskeratosis Congenita, Digenic
Alopecia, Nail dystrophy, Abnormality of skin pigmentation, Sparse eyelashes OMIM:620040
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Renal agenesis, Horseshoe... ORPHA:93111
Cohen Syndrome
Optic atrophy, Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Low anterior h... ORPHA:193
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cataract, Sparse scalp hair, Macular degeneration, Fair hair, Attenuation of retinal blood vessel... OMIM:266920
Xq21 Microdeletion Syndrome
Optic atrophy, Reticular pigmentary degeneration, Peripheral visual field loss, Choroideremia, Pr... ORPHA:1435
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Renal insufficiency, Ovarian c... OMIM:188400
Localized Scleroderma
Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia, Hyperpigm... ORPHA:90289
Mandibuloacral Dysplasia
Alopecia, Sparse hair, Abnormality of skin pigmentation, Hypoplastic fingernail ORPHA:2457
Alport Syndrome
Anterior lenticonus, Posterior subcapsular cataract, Macular degeneration, Abnormal corneal endot... ORPHA:63
Dyskeratosis Congenita
Alopecia, Hypopigmented skin patches, Hypermelanotic macule, White hair, Premature graying of hai... ORPHA:1775
Bohring-Opitz Syndrome
Optic atrophy, Hypertrichosis, High myopia, Retinal atrophy, Synophrys ORPHA:97297
Farber Disease
Macular degeneration, Cherry red spot of the macula, Corneal opacity, Opacification of the cornea... ORPHA:333
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Alopecia, Generalized hypopigmentation, Nyctalopia, Retinal dystrophy, Optic nerve... OMIM:619321
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicouretera... ORPHA:508488
Harrod Syndrome
Hypopigmented skin patches ORPHA:2115
Rothmund-Thomson Syndrome Type 2
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... ORPHA:221016
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Alopecia, Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Vitiligo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Alopecia, Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Vitiligo... ORPHA:363958
Proboscis Lateralis
Ureteral agenesis, Unilateral renal agenesis, External genital hypoplasia, Duplication of renal p... ORPHA:141099
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Buphthalmos, Ocular hypertension, Developmental glaucoma OMIM:610199
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin ORPHA:79456
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Unilateral renal agenesis, Decreased response to growth hormone stimulatio... OMIM:619503
Koolen-De Vries Syndrome
Abnormality of hair texture, Cataract, Hypopigmentation of hair ORPHA:96169
Rothmund-Thomson Syndrome, Type 3
Spotty hypopigmentation, Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair OMIM:615789
Mucolipidosis Ii Alpha/Beta
Sparse hair, Sparse eyebrow, Hypopigmentation of the skin, Brittle hair OMIM:252500
Eec Syndrome
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Slow-growing hair, General... ORPHA:1896
Trisomy 8P
Low posterior hairline, Astigmatism, Heterochromia iridis ORPHA:264450
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum ORPHA:90348
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Fine hair, Aplasia/Hypoplasia of the eye... ORPHA:2637
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Ambiguous genitalia, female, Absent sc... OMIM:258040
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Hypopigmentation of the skin, Blindness, Loss of eyelashes, Keratoconjunct... ORPHA:79277
Chromomycosis
Pruritus, Keratitis, Hypopigmented skin patches, Keratoconjunctivitis sicca ORPHA:182
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Myopic astigmatism, Amblyopia, Myopia, Synophrys OMIM:301066
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Unilateral renal agenesis, Absent gallbladder, Bilateral renal dysplasia ORPHA:500150
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Trichiasis, Hypopigmentation of the skin, Inflammatory abnormality of the skin, Ker... ORPHA:95455
Degcags Syndrome
Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... OMIM:619488
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Cryptorchidism, Hypospad... OMIM:308205
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Ablepharon Macrostomia Syndrome
Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Abnormalit... ORPHA:920
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability ORPHA:175
Familial Tumoral Calcinosis
Hypopigmented skin patches ORPHA:53715
Down Syndrome
Brushfield spots OMIM:190685
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cataract, Hypopigmentation of the skin, Chorioretinal coloboma, Melanocytic nevus, Thick eyebrow,... OMIM:619475
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Stickler Syndrome
Cataract, Ectopia lentis, Blindness, Astigmatism, Abnormal vitreous humor morphology, Retinal det... ORPHA:828
Williams Syndrome
Cataract, Megalocornea, Abnormal fingernail morphology, Retinal arteriolar tortuosity, Aplasia/Hy... ORPHA:904
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin patches, Eczematoid dermatiti... ORPHA:2907
Prader-Willi Syndrome
Frontal upsweep of hair, Generalized hypopigmentation OMIM:176270
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Fine hair, Frontal balding, Lip hyperpigmentation ORPHA:139399
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Fine hair, Abnormal pupil morphology, Amblyopia, Corneal opacity, Generali... ORPHA:534
Mosaic Trisomy 20
Hypopigmented streaks, Depigmentation/hyperpigmentation of skin ORPHA:1724
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches ORPHA:183
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Proteus Syndrome
Cataract, Retinal nonattachment, Irregular hyperpigmentation, Central heterochromia, Chorioretina... ORPHA:744
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression ORPHA:2785
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Dry hair, Microcornea, Hypoplasia of the iris, Abnormal ha... OMIM:133540
Aicardi Syndrome
Optic atrophy, Sparse lateral eyebrow, Chorioretinal coloboma, Optic disc coloboma, Abnormality o... ORPHA:50
Sarcoidosis
Cataract, Alopecia, Hypopigmentation of the skin, Blindness, Maculopapular exanthema, Hyperpigmen... ORPHA:797
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Lumbar hypertrichosis, Nail dystrophy, Low posterior hairline, Generalized h... ORPHA:163956
Fanconi Anemia
Cataract, Abnormality of vision, Irregular hyperpigmentation, Hypopigmented skin patches, Astigma... ORPHA:84
Williams-Beuren Syndrome
Small nail, Premature graying of hair, Retinal arteriolar tortuosity, Blue irides, Medial flaring... OMIM:194050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s... OMIM:210720
Spondyloenchondrodysplasia With Immune Dysregulation
Vitiligo, Hypermelanotic macule, Hypopigmented skin patches on arms OMIM:607944
Pitt-Hopkins Syndrome
Hypopigmented skin patches, Supernumerary nipple, Astigmatism, Aganglionic megacolon, Myopia ORPHA:2896
Kindler Syndrome
Spotty hypopigmentation, Ridged nail, Spotty hyperpigmentation OMIM:173650
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Optic atrophy, Cataract, Aganglionic megacolon, Sclerocornea, Abnormal eyelash morphology, Hypopi... ORPHA:818
Systemic Sclerosis
Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia ORPHA:90291
22Q11.2 Deletion Syndrome
Optic atrophy, Cataract, Hypopigmented skin patches, Retinal arteriolar tortuosity, Corneal neova... ORPHA:567
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, D-2-hydroxyglutaric aciduria ORPHA:99646
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Constriction of peripheral visual field, Nyctalopia, Macular atrophy OMIM:619418
Ring Chromosome 13 Syndrome
Alopecia, Retinoblastoma, Abnormal retinal morphology, Abnormality of skin pigmentation, Cafe-au-... ORPHA:96176
Cowden Syndrome
Cataract, Hypopigmented skin patches, Melanocytic nevus, Conjunctival hamartoma, Multiple cafe-au... ORPHA:201
Sotos Syndrome
Cataract, Hypopigmentation of the skin, Small nail, Sparse anterior scalp hair, Astigmatism, Agan... ORPHA:821
Gardner Syndrome
Abnormality of skin pigmentation, Congenital hypertrophy of retinal pigment epithelium, Pilomatri... ORPHA:79665
Lymphangioleiomyomatosis
Ungual fibroma, Optic atrophy, Retinal hamartoma, Abnormality of skin pigmentation ORPHA:538
Pallister-Killian Syndrome
Hyperpigmented streaks, Cataract, Sparse eyebrow, Hypopigmentation of the skin, Alopecia, Visual ... OMIM:601803
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation ORPHA:3063
Cystic Fibrosis
Absent vas deferens, Male infertility, Nephrolithiasis ORPHA:586
Chronic Graft Versus Host Disease
Alopecia, Nail dystrophy, Recurrent corneal erosions, Onycholysis, Keratoconjunctivitis sicca, Ab... ORPHA:99921
Mend Syndrome
Spotty hypopigmentation ORPHA:401973
Mend Syndrome
Spotty hypopigmentation OMIM:300960
Alström Syndrome
Cataract, Posterior subcapsular cataract, Frontal balding, Fine hair, Blindness, Visual loss, Con... ORPHA:64

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 Tyr

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 Tyr.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genomic analysis of a novel spontaneous albino C57BL/6N mouse strain. Genesis (New York, N.Y. : 2000) (May 2013) Tyrc-Wtsi PMC3799019

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
Tyrem1(IMPC)Ccpcz Indel Mice
Tyrtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tyrtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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