Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
melanogenesis associated transcription factor
Synonyms:
mi,  wh,  BCC2,  bHLHe32,  Gsfbcc2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mitf 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 Mitf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... ORPHA:42665
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Microphthalmia, Anophthalmia ORPHA:85275
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Book Syndrome
Premature graying of hair OMIM:112300
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hearing impairment, Multiple cafe-au-lait spots, Hypopigmente... ORPHA:241
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Waardenburg Syndrome, Type 2A
Albinism, White eyebrow, Heterochromia iridis, Premature graying of hair, Synophrys, White eyelas... OMIM:193510
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... OMIM:619165
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Regional Odontodysplasia
Enamel hypoplasia, Abnormal dental enamel morphology, Carious teeth, Pulp calcification, Hypoplas... ORPHA:83450
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Polycystic kidney dysplasia OMIM:211890
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Microphakia, Ectopia lentis, Hypoplasia of the ir... OMIM:617319
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Infertility, Hearing impairment, Cataract OMIM:300719
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Iris coloboma, Severe sensorineural h... OMIM:601706
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia OMIM:600666
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cyst... OMIM:263200
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Woolly Hair
Hypopigmentation of hair, Abnormal retinal morphology, Slow-growing hair, Cataract, Sparse latera... ORPHA:170
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Elevated circulating creatinine concentration, Recurrent urinary tract infections,... OMIM:613095
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Cerebellar Ataxia And Albinism
Albinism OMIM:258300
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Intention tremor OMIM:190200
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microphthalmia OMIM:251505
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Heterochromia iridis, Premature graying of hair, White eyeb... OMIM:611584
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, C... OMIM:251270
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Facial palsy, Anemia, Splenomegaly, Optic atrophy OMIM:615085
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Senior-Loken Syndrome 8
Nephronophthisis, Pancreatic cysts, Hepatic cysts OMIM:616307
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Anonychia With Flexural Pigmentation
Anonychia, Abnormal hair morphology, Alopecia of scalp, Axillary and groin hyperpigmentation and ... ORPHA:69125
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, Sensorineural hearing impairment, White eyelashes,... OMIM:227010
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Abnormal hair morphology OMIM:113750
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, H... ORPHA:730
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Delayed eruption of teeth, Abnormality of the dentition, Thick ... ORPHA:2222
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Hepatospleno... OMIM:611490
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Nephropathy, Cholestatic liver disease, Chronic kidney disease, Ab... OMIM:602114
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Nephro... OMIM:618999
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased glomerular filtration rate, Gout, Stage 5 chronic kidney disease, Renal ... OMIM:618061
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia, Stillbirth OMIM:183300
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Sparse hair, Pigmentary retinopathy, Long eyelashes, Retin... OMIM:275400
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Torus palatinus, Osteopetrosis, Generalized osteosclerosis, Calvarial osteoscler... OMIM:607634
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease, Renal cyst OMIM:174050
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma OMIM:613703
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Hepatic... OMIM:604387
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Calvarial Hyperostosis
Calvarial hyperostosis OMIM:302030
Gemignani Syndrome
Sensorineural hearing impairment, Hypopigmented skin patches ORPHA:2074
Uveal Melanoma
Zonular cataract, Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, ... ORPHA:39044
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Abnormal toenail ... ORPHA:89838
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Loose Anagen Syndrome
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Hepatomegaly, Abnormal... ORPHA:2924
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Generalized hyperpigmentation ORPHA:2297
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Papillary renal cell carcinoma, Recurrent pancreatiti... OMIM:145001
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Microphthalmia, Isolated 3
Ankyloblepharon, Microphthalmia, Anophthalmia OMIM:611038
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Trichodentoosseous Syndrome
Taurodontia, Abnormal hair morphology, Increased bone mineral density, Microdontia, Widely spaced... OMIM:190320
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Microphthalmia, Retina... OMIM:212550
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Renal tubular atrophy, Renal corticomed... OMIM:613159
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Hearing impairment, Abnormality of the antihelix, Cataract OMIM:274205
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Discrete 2 to 5-mm hy... OMIM:131960
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Se... ORPHA:999
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Polycystic liver disease, Renal cyst OMIM:109130
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Abcd Syndrome
Albinism, Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Facial paralysis, Cranial nerve... OMIM:259710
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Dela... OMIM:600002
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Microphthalmia, Cryptophthalmos OMIM:123570
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Osteopetrosis, Generalized osteosclerosis, Recurren... OMIM:166600
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule, Cutaneous mastocytosis ORPHA:79455
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, R... OMIM:610951
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma, Osteopetrosis, Posteriorly rotated ears, Microphthalmia, Shallow orbits, Micrognathia OMIM:617306
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation... ORPHA:79434
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Ridged fingernail, Fingernail dysplasia, Protruding ea... ORPHA:2251
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... ORPHA:79399
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin OMIM:618541
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, ... OMIM:310600
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypodontia, ... ORPHA:1816
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Fair hair, Menorrhagia, Hypoplasia of the fovea, Ir... OMIM:619172
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated hepatic transaminase, Increased blood urea nitrogen, Elevat... OMIM:614817
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5... OMIM:601668
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Cataract, Microcornea OMIM:106230
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Retinitis Pigmentosa 11
Macular atrophy, Perifoveal ring of hyperautofluorescence, Macular edema, Bone spicule pigmentati... OMIM:600138
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Freckling, Abnormal macular morphology, Giant melanosomes in melanocytes, ... ORPHA:54
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Craniometaphyseal Dysplasia
Abnormality of the metaphysis, Craniofacial hyperostosis, Osteopetrosis, Telecanthus ORPHA:1522
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abn... ORPHA:1433
Pierson Syndrome
Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Posterior lenticonus OMIM:609049
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Abnormality of retinal pigmentation, Uncombable hair, Juvenile cataract ORPHA:1264
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Pyle Disease
Genu valgum, Delayed eruption of teeth, Carious teeth, Limited elbow extension, Mandibular progna... OMIM:265900
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ectopia lentis, Iris coloboma, Fingernail dysplasia ORPHA:1259
Eem Syndrome
Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Sparse body hair, Retinop... ORPHA:1897
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruption of primar... OMIM:265800
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Adult onset sensorineural hearing impairment, Giant melanosomes in melanocytes, Albinism OMIM:300650
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin OMIM:302000
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Absent eyelashes, Spotty hypopigmentation, Sparse lateral eye... ORPHA:79133
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Cholestasis, Stage 5 chronic k... OMIM:267010
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Carious teeth, Heterochromia iridis, Low-set, posteriorly ro... ORPHA:1390
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Abnormality iris morphology, Coloboma, Low-set, posterio... ORPHA:1617
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large iliac wing, Epicanthus, Osteopetrosis, High iliac wing, Increase... ORPHA:2780
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Abnormalit... ORPHA:79431
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Pigmentary retinopathy OMIM:617613
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of th... ORPHA:400
Autosomal Recessive Spastic Paraplegia Type 23
Vitiligo, Silver-gray hair, Multiple lentigines, Short stature ORPHA:101003
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Short stature ORPHA:2515
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Cerebral atrophy, Short stature, Pigmentary retinopathy OMIM:619090
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Facial paralysis, Increased bone mineral density, Pancytopenia, ... OMIM:259700
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Progressive vitiligo, Growth delay OMIM:277465
Waardenburg Syndrome, Type 3
Heterochromia iridis, Premature graying of hair, Synophrys, Hypopigmented skin patches, White for... OMIM:148820
Hermansky-Pudlak Syndrome 4
Albinism, Hypoplasia of the fovea, Menorrhagia, Ocular albinism OMIM:614073
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Hirsutism, Abnormality of the dentition, Synoph... ORPHA:2026
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Otodental Syndrome
Progressive sensorineural hearing impairment, Carious teeth, Abnormal dental enamel morphology, P... ORPHA:2791
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Congenital Glaucoma
Retinal detachment ORPHA:98976
Aniridia 2
Aniridia, Cataract OMIM:617141
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Sensorineural hearing impairment, Astigmatism, Abnormal cochlea ... ORPHA:231183
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Narrow mouth, Short distal phalanx of finger, Sandal ga... OMIM:311300
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Hermansky-Pudlak Syndrome 5
Albinism, Hypoplasia of the fovea, Menorrhagia, Ocular albinism OMIM:614074
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Campomelia, Cumming Type
Multiple renal cysts, Pancreatic cysts, Multicystic kidney dysplasia, Hepatomegaly, Abnormality o... ORPHA:1318
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Hepatic cysts, Stage 5 chronic kidney disease OMIM:613819
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Synophrys, Persistenc... OMIM:228560
Phenylketonuria
Cataract, Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Blepharophimosis, Poliosis, Tongue atrophy, Patchy alopecia, Short man... OMIM:141300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Hyperpigmentation of t... ORPHA:3214
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Coloboma OMIM:607906
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Hearing impairment OMIM:312910
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,... ORPHA:1466
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Ring Chromosome 14 Syndrome
Growth delay, Pigmentary retinopathy OMIM:616606
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Chro... OMIM:208500
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Microcornea, Coloboma OMIM:602499
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Ocular albinism, Hypopigmentation of the skin OMIM:614171
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Microphthalmia With Limb Anomalies
Sandal gap, Anophthalmia, Downslanted palpebral fissures, High palate, Postaxial hand polydactyly... OMIM:206920
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Tooth agenesis, Micrognathia, Brachydactyly, Multip... ORPHA:2645
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Bilateral cleft lip and palate, Cor... ORPHA:1473
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Nephronophthisis 18
Nephronophthisis, Cholestasis, Renal tubular atrophy, Portal fibrosis, Tubulointerstitial nephrit... OMIM:615862
Mastocytosis, Cutaneous
Hypermelanotic macule, Cutaneous mastocytosis OMIM:154800
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma, Retinal dystrophy, Microcornea OMIM:615147
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Upslanted palpebral fissure, Epicanthus, Retrognathia, Microphthalmia, High palate,... ORPHA:2528
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
Microphthalmia, Syndromic 13
Coloboma, Anteverted ears, Diastema, Abnormality of the pinna, Ptosis, Microcornea, Microphthalmia OMIM:300915
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Aniridia-Intellectual Disability Syndrome
Aniridia, Ectopia lentis, Cataract, Optic nerve hypoplasia ORPHA:1068
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism OMIM:300500
Immunodeficiency 10
Hypoplasia of the iris, Nail dysplasia OMIM:612783
Craniometadiaphyseal Dysplasia
Genu valgum, Carious teeth, Wide anterior fontanel, Dental crowding, Broad long bones, Mandibular... OMIM:269300
Bardet-Biedl Syndrome 16
Renal insufficiency, Recurrent otitis media, Renal dysplasia, Renal cyst, Renal agenesis, Abnorma... OMIM:615993
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, He... OMIM:612840
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancreas, Abnormal biliary trac... ORPHA:3032
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Vitiligo, Low anterior hairline, Diffuse cerebellar atrophy, Corpus callosum atrophy, Cerebral at... ORPHA:480898
Glycogen Storage Disease Iv
Cirrhosis, Tubulointerstitial fibrosis, Hepatic failure, Portal hypertension, Hepatosplenomegaly OMIM:232500
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, V... ORPHA:231169
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Ectodermal Dysplasia, Trichoodontoonychial Type
Irregular hyperpigmentation of back, Sparse hair, Melanocytic nevus, Abnormal eyelash morphology,... ORPHA:1818
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bon... OMIM:613810
Ramon Syndrome
Delayed eruption of teeth, Abnormality of retinal pigmentation, Osteolysis, Abnormal dental ename... ORPHA:3019
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Tricho-Dento-Osseous Syndrome