Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Slc24a5 MGI:2677271

Gene Summary

Name:

solute carrier family 24, member 5

Synonyms:

NCX5, NCKX5, F630045L20Rik, Oca6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating sodium level	Slc24a5^{tm1b(KOMP)Mbp}	HOM	Early adult	3.52×10^-08
abnormal iris transillumination	Slc24a5^{tm1b(KOMP)Mbp}	HOM	Early adult	1.97×10^-16
abnormal coat/hair pigmentation	Slc24a5^{tm1b(KOMP)Mbp}	HOM	Early adult	4.81×10^-08
abnormal retina morphology	Slc24a5^{tm1b(KOMP)Mbp}	HOM	Early adult	4.19×10^-07
decreased prepulse inhibition	Slc24a5^{tm1b(KOMP)Mbp}	HOM	Early adult	4.41×10^-08
impaired righting response	Slc24a5^{tm1b(KOMP)Mbp}	HOM	Early adult	2.41×10^-07
decreased fasting circulating glucose level	Slc24a5^{tm1b(KOMP)Mbp}	HOM	Early adult	1.61×10^-09
increased grip strength	Slc24a5^{tm1b(KOMP)Mbp}	HOM	Early adult	7.68×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thalamus	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Fronto-nasal process	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	0.0% (0 of 1)
Lung	N/A	heterozygote	0.0% (0 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Nose	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 1)
Spinal cord	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Forepaw

10 Images

View images

Eye Morphology

Images Ophthalmoscopy

30 Images

View images

Sleep Wake

Wake state (bmp file)

16 Images

View images

Combined SHIRPA and Dysmorphology

Images

2 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Adult LacZ

LacZ Images Section

7 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Electroretinography 2

Rod and cone PDF

4 Images

View images

Human diseases caused by Slc24a5 mutations

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

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

Human diseases associated with Slc24a5 (2 diseases)
Human diseases predicted to be associated with Slc24a5 (862 diseases)

The table below shows human diseases associated to Slc24a5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Oculocutaneous Albinism Type 6		Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Albinism, Oculocutaneous, Type Vi		Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation	OMIM:113750

The table below shows human diseases predicted to be associated to Slc24a5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea...	OMIM:619947
Tietz Albinism-Deafness Syndrome	Hypopigmentation of the fundus, Congenital sensorineural hearing impairment, Heterochromia iridis...	OMIM:103500
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori...	OMIM:193510
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair	OMIM:606574
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans...	OMIM:619165
Tietz Syndrome	Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormal anterior chamber morpho...	ORPHA:42665
Waardenburg Syndrome, Type 2B	Heterochromia iridis, Sensorineural hearing impairment, White forelock, Premature graying of hair	OMIM:600193
Albinism-Deafness Syndrome	Ocular albinism, Congenital sensorineural hearing impairment, Piebald skin depigmentation, Albini...	OMIM:300700
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:613265
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ...	OMIM:227010
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
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
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A...	ORPHA:54
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism	OMIM:614171
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy, Hearing impairment, Abnormality of skin pigmentation	OMIM:300719
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo...	OMIM:203200
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Uveal ectropion, Optic nerve ...	OMIM:617319
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Hearing impairment, Spotty hypopigmentation, Multiple cafe-au-lait sp...	ORPHA:241
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi...	ORPHA:79431
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Premature gray...	OMIM:611584
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Vitelliform-like macular lesions, Retinal nonattachment, Choroideremia	ORPHA:99000
Griscelli Syndrome Type 1	Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Retinopathy	ORPHA:79476
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus	OMIM:606952
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ...	ORPHA:79433
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:277580
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Severe sensorineural hearing impairment, Chorioretinal coloboma, White forelock, Num...	OMIM:601706
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe...	ORPHA:1067
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur...	ORPHA:2885
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ...	ORPHA:998
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor...	ORPHA:895
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Progressive Hemifacial Atrophy	Heterochromia iridis, Irregular hyperpigmentation	ORPHA:1214
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Hypoplasia of the fovea, Iris transillum...	OMIM:619172
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis, Sensorineural hearing impairment	OMIM:616460
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o...	ORPHA:352731
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue...	OMIM:203100
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Sensorineural hearing impairment, Premature graying of hair	ORPHA:66633
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
Choroideremia	Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Numm...	OMIM:303100
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of s...	OMIM:251270
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
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Hermansky-Pudlak Syndrome 4	Albinism, Hypoplasia of the fovea, Ocular albinism	OMIM:614073
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Oliver-Mcfarlane Syndrome	Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo...	OMIM:275400
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism	ORPHA:370091
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Macular dystrophy, ...	OMIM:608051
Blue Cone Monochromatism	Corneal dystrophy, Abnormality of retinal pigmentation	ORPHA:16
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Generalized hyperpigmentation, Cataract	ORPHA:2253
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Liberfarb Syndrome	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Retinal degeneration, Bone...	OMIM:618889
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla...	ORPHA:79414
Ocular Albinism With Late-Onset Sensorineural Deafness	Sensorineural hearing impairment, Ocular albinism	ORPHA:1000
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation	OMIM:113750
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o...	ORPHA:33445
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Iris...	OMIM:614077
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Hearing impairment, White hair, Ocular albinism, Generalized hyp...	ORPHA:2720
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Hermansky-Pudlak Syndrome 7	Albinism, Ocular albinism	OMIM:614076
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Albinism, Hypoplasia of the fovea, Ocular albinism	OMIM:614074
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:620199
Nystagmus 6, Congenital, X-Linked	Astigmatism, Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat...	ORPHA:75376
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology	ORPHA:2786
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ...	ORPHA:69125
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Sensorin...	OMIM:148820
Phenylketonuria	Fair hair, Blue irides, Generalized hypopigmentation, Cataract	OMIM:261600
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab...	ORPHA:89838
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Sensorineural hearing impairment,...	ORPHA:3214
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Gemignani Syndrome	Hypopigmented skin patches, Sensorineural hearing impairment	ORPHA:2074
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism, Sensorineural hearing impairment, Abnormal cochlea ...	ORPHA:231183
Leber Congenital Amaurosis With Early-Onset Deafness	Sensorineural hearing impairment, Peripapillary atrophy, Retinal pigment epithelial mottling, Ret...	OMIM:617879
Vogt-Koyanagi-Harada Disease	Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit...	ORPHA:3437
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Beaten bronze macular sheen, Cone/cone-rod dystro...	OMIM:614500
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Piebaldism	Hypopigmented skin patches, Hearing impairment, White forelock, Heterochromia iridis, White eyebr...	ORPHA:2884
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Waardenburg Syndrome, Type 1	Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Congenital sensorine...	OMIM:193500
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormal helix morphology, Ectopia lentis, Fingernail dysplasia, Abnormality of retinal pigmentat...	ORPHA:1259
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Leber Congenital Amaurosis 2	Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Heterochromia iridis, Abn...	ORPHA:1390
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Attached earlobe, Bone spicule pigmentation of th...	OMIM:616108
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Hearing impairment	ORPHA:67048
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Leber Congenital Amaurosis 8	Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Norrie Disease	Optic atrophy, Cataract, Hypoplasia of the iris, Sensorineural hearing impairment, Buphthalmos, L...	OMIM:310600
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Abnormal optic nerve morphology, O...	ORPHA:79430
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Hermansky-Pudlak Syndrome 10	Albinism, Low-set ears, Macrotia, Ocular albinism	OMIM:617050
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Eem Syndrome	Sparse body hair, Retinopathy, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystr...	ORPHA:1897
Usher Syndrome Type 1	Iris hypopigmentation, Cataract, Abnormal cochlea morphology, Sensorineural hearing impairment	ORPHA:231169
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Waardenburg-Shah Syndrome	Hearing impairment, Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morp...	ORPHA:897
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Macular h...	OMIM:214500
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Woolly Hair	Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Woolly ...	ORPHA:170
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Sparse hair, Abnormality of retinal pigmentation, Uncombable hair	ORPHA:1264
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma...	ORPHA:411527
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:613266
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Bornholm Eye Disease	Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Usher Syndrome, Type Iv	Progressive sensorineural hearing impairment, Hyperautofluorescent macular lesion, Retinal degene...	OMIM:618144
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Hearing impairment	OMIM:619090
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Hypomela...	ORPHA:79399
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Low-set ears, Abnormal eyebrow morphology, Abnormal antihelix mo...	ORPHA:85194
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Sjögren-Larsson Syndrome	Macular degeneration, Generalized hyperpigmentation, Retinopathy, Abnormality of retinal pigmenta...	ORPHA:816
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Sensorineural hear...	ORPHA:290
Neuhauser Syndrome	Cupped ear, Megalocornea, Hypoplasia of the iris, Large fleshy ears, Low anterior hairline, Irido...	OMIM:249310
Leber Congenital Amaurosis	Keratoconus, Cataract, Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic di...	ORPHA:65
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Hearing impairment, Ocular albinism, Partial albinism, Macular hypo...	OMIM:614075
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Sensorineural hearing impairment...	ORPHA:2719
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Sparse hair	ORPHA:3363
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail...	ORPHA:2251
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Hear...	ORPHA:894
Hermansky-Pudlak Syndrome 2	Low-set ears, Fair hair, Ocular albinism, Recurrent otitis media, Aberrant melanosome maturation,...	OMIM:608233
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Microtia, Cupped ear, Ocular albinism	ORPHA:1352
Anonychia With Flexural Pigmentation	Anonychia, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Congenital sensorineural hearing impairment, Generalized hypopigmentation,...	OMIM:617306
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Sensorineura...	OMIM:204000
Retinitis Pigmentosa 46	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
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
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Hearing impairment, Abnormality of skin pigmentation	ORPHA:2222
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Edinburgh Malformation Syndrome	Low-set ears, Hirsutism, Low posterior hairline, Generalized hirsutism, Brushfield spots, Aplasia...	ORPHA:1895
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Leber Congenital Amaurosis 9	Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Attenuation of retinal blood ves...	OMIM:608553
Diprosopus	Abnormal pinna morphology, Abnormality of retinal pigmentation	ORPHA:1681
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ...	OMIM:614195
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Hyperpigmentation of the ...	ORPHA:90342
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of skin pigmentation	ORPHA:834
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Cofs Syndrome	Optic atrophy, Cataract, Abnormality of retinal pigmentation, Sensorineural hearing impairment, M...	ORPHA:1466
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin...	ORPHA:381
Ramon Syndrome	Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairm...	ORPHA:3019
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Hearing impairment	ORPHA:480
Encephalocraniocutaneous Lipomatosis	Alopecia, Hypoplasia of the iris, Linear hyperpigmentation, Microphthalmia, Sclerocornea, Limbal ...	OMIM:613001
Phenylketonuria	Hypopigmentation of the skin	ORPHA:716
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Spotty hypopigmentation,...	ORPHA:79133
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Heimler Syndrome 1	Retinal pigment epithelial mottling, Leukonychia, Sensorineural hearing impairment, Macular dystr...	OMIM:234580
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti...	OMIM:617304
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Stapes ankylosis, Se...	ORPHA:90646
Vici Syndrome	Low-set ears, Cataract, Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albi...	OMIM:242840
Aniridia 2	Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Retinitis Pigmentosa 56	Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ...	OMIM:613581
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous...	OMIM:618173
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation, Hearing impairment	ORPHA:2801
Waardenburg Syndrome	Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Premature graying ...	ORPHA:3440
Ring Chromosome 14 Syndrome	Low-set ears, Pigmentary retinopathy	OMIM:616606
Riboflavin Transporter Deficiency	Iris hypopigmentation, Optic disc pallor, Abnormality of macular pigmentation, Progressive hearin...	ORPHA:97229
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon...	OMIM:180105
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Retinitis Pigmentosa 43	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon...	OMIM:613810
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo...	ORPHA:1816
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Diabetes And Deafness, Maternally Inherited	Sensorineural hearing impairment, Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ...	ORPHA:263479
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormality of macular pigmentation, Fine hair, Melanocytic nevus, Pili tor...	ORPHA:1573
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu...	OMIM:106210
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone...	OMIM:602772
Gms Syndrome	Low-set ears, Rieger anomaly	ORPHA:2090
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Increased LDL cholesterol concentration, Gait ataxia, Fair hair, Developmental cataract	OMIM:618808
Peroxisomal Acyl-Coa Oxidase Deficiency	Low-set ears, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Bilateral sensorineural ...	OMIM:264470
Aland Island Eye Disease	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Hypopigmentation of the fundus, Astigm...	OMIM:300600
Vitreoretinochoroidopathy	Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Short Syndrome	Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Sensorineural hearing ...	ORPHA:3163
Piebald Trait With Neurologic Defects	White forelock, Hearing impairment, Absent pigmentation of the ventral chest	OMIM:172850
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Duane Retraction Syndrome	Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Chor...	ORPHA:233
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Donnai-Barrow Syndrome	Low-set ears, Cataract, Hearing impairment, Hypoplasia of the iris, Sensorineural hearing impairm...	OMIM:222448
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
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio...	ORPHA:158681
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the...	OMIM:600132
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip...	OMIM:618195
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Microphthalmia, Aplasia/Hypoplasia affecting ...	ORPHA:83461
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Neovascular Glaucoma	Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino...	ORPHA:94058
Neonatal Adrenoleukodystrophy	Optic atrophy, Cataract, Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, ...	ORPHA:44
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Cataract, Hypopigmented skin patches, Large earlobe, Abnormality of retinal pigmen...	ORPHA:2715
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches, Sensorineural hearing impairment	ORPHA:3239
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Night Blindness, Congenital Stationary, Type 1C	Abnormality of skin pigmentation, Congenital stationary night blindness	OMIM:613216
Trisomy 13	Low-set ears, Optic atrophy, Cataract, Abnormal helix morphology, Aplasia/Hypoplasia of the iris,...	ORPHA:3378
Narp Syndrome	Retinal pigment epithelial mottling, Hearing impairment, Retinal arteriolar tortuosity, Rod-cone ...	ORPHA:644
Classic Phenylketonuria	Cataract, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Galloway-Mowat Syndrome 1	Low-set ears, Optic atrophy, Cataract, Hypopigmentation of the skin, Small nail, Hypoplasia of th...	OMIM:251300
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit...	ORPHA:364055
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Retinopathy, Hyperpigmentation of the skin	ORPHA:158029
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hearing impairment, Microphthalmia	ORPHA:858
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Frontal balding, Abnormal antihelix morphology, Protruding ear, Blue irides, Early balding, Cafe-...	ORPHA:3041
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:1791
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Nuclear cataract, Posterior subcapsular cat...	OMIM:611131
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Iritis	ORPHA:158000
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy	OMIM:601957
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio...	OMIM:617547
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation, Hearing impairment	ORPHA:141
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Tonne-Kalscheuer Syndrome	Small nail, Blue irides, Fine hair, Concave nail	OMIM:300978
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Macrotia, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Nivelon-Nivelon-Mabille Syndrome	Nail dysplasia, Optic disc coloboma, Hypoplasia of the iris	OMIM:600092
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Hypomelanosis Of Ito	Cataract, Alopecia, Iris coloboma, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Hyperkalemia, Abnormality of skin pigmentation	OMIM:240200
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone...	OMIM:616469
Vici Syndrome	Optic atrophy, Cataract, Hypopigmentation of the skin, Abnormal macular morphology, Abnormality o...	ORPHA:1493
Focal Dermal Hypoplasia	Low-set ears, Alopecia, Ectopia lentis, Hearing impairment, Chorioretinal coloboma, Hypoplasia of...	ORPHA:2092
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Usher Syndrome Type 2	Iris hypopigmentation, Cataract, Sensorineural hearing impairment	ORPHA:231178
Proteus-Like Syndrome	Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Heterochromia iridis, Retinal d...	ORPHA:2969
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Sparse hair, Rod-cone dystrophy, Subcapsular cataract	OMIM:268020
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi...	OMIM:613983
Retinitis Pigmentosa 75	Mixed astigmatism, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617023
Chondrodysplasia-Difference Of Sex Development Syndrome	Macrotia, Chorioretinal coloboma, Hypoplasia of the iris	ORPHA:1422
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Tremor, Hyperglutamatem...	ORPHA:3008
Self-Improving Dystrophic Epidermolysis Bullosa	Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region	ORPHA:79411
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
Arthrogryposis, Distal, Type 5	Keratoconus, Astigmatism, Abnormality of retinal pigmentation, Protruding ear, Retinal fold, Kera...	OMIM:108145
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Megalocornea, Astigmatism, Sensorineural hearing impairment, Protruding e...	ORPHA:2479
Gillespie Syndrome	Aniridia, Hypoplasia of the iris	OMIM:206700
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm...	ORPHA:79402
Zika Virus Disease	Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy, Transient hear...	ORPHA:448237
Noonan Syndrome 13	Low-set ears, Highly arched eyebrow, Hypertrichosis, Multiple lentigines, Recurrent otitis media,...	OMIM:619087
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Dry hair, Microcornea, Abnormal auditory evoked potentials...	OMIM:133540
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy, Iris cyst	OMIM:620086
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Abnormality of retinal pigmentation, Sensorineural hearing impairment	ORPHA:3085
Uv-Sensitive Syndrome 1	Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Al-Raqad Syndrome	Low-set ears, Hypopigmentation of the skin	OMIM:616459
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair	OMIM:269920
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Sensorineu...	OMIM:602482
Trisomy 12P	Low-set ears, Supernumerary nipple, Thick eyebrow, Abnormal antihelix morphology, Aplasia/Hypopla...	ORPHA:1699
Wyburn-Mason Syndrome	Iris hypopigmentation, Retinal vascular malformation, Tinnitus, Hearing impairment	ORPHA:53719
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal conjunctiva morpholo...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal conjunctiva morpholo...	ORPHA:529808
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Conductive hearing impairment, Sensorineural hearing impairment	OMIM:619473
Curry-Jones Syndrome	Hypopigmented skin patches, Optic disc coloboma, Generalized hirsutism, Microphthalmia, Iris colo...	ORPHA:1553
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Senso...	OMIM:109120
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit	OMIM:616428
Hereditary Bullous Dystrophy, Macular Type	Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the s...	ORPHA:1867
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal m...	ORPHA:5
Lichen Planus Pemphigoides	Conjunctivitis, Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Hyperglycinemia, Exaggerated startle response, Dystonia, Hypernatremia	OMIM:620423
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Chorea, Hypocalcemia, Tremor, Hyperuricemia...	ORPHA:94093
Crouzon Syndrome	Optic atrophy, Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Nar...	ORPHA:207
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Maternal Uniparental Disomy Of Chromosome X	Low posterior hairline, Hypopigmentation of the skin	ORPHA:261519
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Bardet-Biedl Syndrome 9	Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p...	OMIM:615986
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Cataract, Sensorineural hearing impairment, Freckling, Mic...	OMIM:610651
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Rieger anomaly, Primary congenital glaucoma, Retinal detachment, Bilateral sensorineural hearing ...	ORPHA:521445
Immunodeficiency 10	Recurrent otitis media, Nail dysplasia, Hypoplasia of the iris	OMIM:612783
Insulin-Like Growth Factor I, Resistance To	Low-set ears, Highly arched eyebrow, Thick eyebrow, Rieger anomaly, Sparse scalp hair, Synophrys	OMIM:270450
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Distichiasis, Abnormal...	ORPHA:1807
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Corneal crystals, Retinal pigment epithelial mottling	OMIM:219900
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Pigmentary retinopathy, Abnormal helix morphology, Opacification of the corneal stroma,...	OMIM:214110
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Protruding ear, Optic atrophy, Abnormality of retinal pigmentation, Abnormal eyelash morphology	ORPHA:2518
Distal Deletion 6P	Low-set ears, Hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon...	ORPHA:96125
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Bone spicu...	OMIM:609033
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Peters anomaly, Aniridia, Mic...	OMIM:610256
Leigh Syndrome, Nuclear	Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Hypertrichosis	OMIM:256000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Hearing impairment, Mottled pigmentation of photoexposed areas	OMIM:560000
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia	OMIM:616949
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r...	OMIM:300578
Multiple Sulfatase Deficiency	Optic atrophy, Cataract, Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Sensori...	ORPHA:585
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Hearing impairment	ORPHA:329336
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Clouston Syndrome	Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar...	OMIM:129500
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches, Sensorineural hearing impairment	ORPHA:1825
Noonan Syndrome 4	Low-set ears, Sparse eyebrow, High anterior hairline, Blue irides, Curly hair, Thickened helices,...	OMIM:610733
Lichen Planopilaris	Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Pterygium, Onycholysis	ORPHA:525
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2584
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Retinitis Pigmentosa	Optic atrophy, Keratoconus, Posterior subcapsular cataract, Conductive hearing impairment, Attenu...	ORPHA:791
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks	ORPHA:100996
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Angelman Syndrome	Iris hypopigmentation, Optic atrophy, Keratoconus, Hypopigmentation of the skin, Fair hair, Astig...	ORPHA:72
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Alopecia Totalis	Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails	ORPHA:700
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Menkes Disease	Sparse hair, Alopecia, Hypopigmentation of the skin, Brittle hair	OMIM:309400
Lowry-Wood Syndrome	Astigmatism, Abnormality of nail color, Abnormality of retinal pigmentation	ORPHA:1824
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Sparse hair, Hypernatremia	OMIM:615508
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Cataract, Hearing impairment, Sensorineural hearing impairment, Bone spicule pigme...	OMIM:268315
Short Syndrome	Low-set ears, Cataract, Megalocornea, Rieger anomaly, Astigmatism, Sensorineural hearing impairme...	OMIM:269880
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop...	ORPHA:69087
Sturge-Weber Syndrome	Optic atrophy, Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Ab...	ORPHA:3205
Dubowitz Syndrome	Low-set ears, Sparse lateral eyebrow, Megalocornea, Hypoplasia of the iris, Otitis media, Protrud...	OMIM:223370
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Highly arched eyebrow, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic ...	OMIM:620157
Mulibrey Nanism	Astigmatism, Pigmentary retinopathy, Iris coloboma, Corneal dystrophy	OMIM:253250
Large Congenital Melanocytic Nevus	Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit...	ORPHA:626
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Pigmentary retinopathy, Cataract, Vitiligo, Nail dystrophy, Tympa...	OMIM:240300
Zellweger Syndrome	Optic atrophy, Cataract, Sensorineural hearing impairment, Posterior embryotoxon, Corneal opacity...	ORPHA:912
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Sensorineural...	ORPHA:163746
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Darier Disease	Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H...	ORPHA:218
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia	OMIM:125800
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia	OMIM:304800
Micro Syndrome	Optic atrophy, Cataract, Microcornea, Retinal coloboma, Low-set, posteriorly rotated ears, Abnorm...	ORPHA:2510
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Low-set ears, Hearing impairment, Microphthalmia, Corneal opacit...	ORPHA:284160
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation	OMIM:225050
Joubert Syndrome 3	Low-set ears, Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair	ORPHA:1810
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Aniridia 3	Cataract, Aniridia	OMIM:617142
Alg3-Cdg	Cataract, Abnormal pinna morphology, Hypopigmentation of the skin, Hearing impairment	ORPHA:79321
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hypoplasia of the iris	ORPHA:169090
Refsum Disease	Cataract, Retinopathy, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Nai...	ORPHA:773
Norrie Disease	Optic atrophy, Cataract, Abnormal helix morphology, Ectopia lentis, Hypoplasia of the iris, Macro...	ORPHA:649
Axenfeld-Rieger Syndrome	Posterior embryotoxon, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Hear...	ORPHA:782
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel...	ORPHA:39044
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai...	OMIM:104100
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ...	ORPHA:79153
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Optic atrophy, Long eyelashes, Thick eyebrow, Abnormality of ...	ORPHA:193
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Sparse hair, Retinal pigment epithelial mottling, Microphthalmia	OMIM:614105
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Autoimmune Polyendocrinopathy Type 1	Cataract, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Opacification of ...	ORPHA:3453
Prolidase Deficiency	Hearing impairment, Abnormal fingernail morphology, White forelock, Abnormality of retinal pigmen...	ORPHA:742
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Hearing impairment, Fine hair, Abnormal fingernail morphology, Protruding ...	ORPHA:1806
Xeroderma Pigmentosum, Complementation Group C	Conjunctivitis, Hypopigmentation of the skin, Keratitis, Freckling	OMIM:278720
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Low-set ears, High anterior hairline, Hypoplasia of the iris, Supernumerary nipple, Prominent cru...	OMIM:619194
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Knobloch Syndrome 1	Band keratopathy, Horizontal eyebrow, Vitreoretinopathy, Lens subluxation, Attenuation of retinal...	OMIM:267750
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Dystonia, Ataxia	ORPHA:163921
1P36 Deletion Syndrome	Optic atrophy, Cataract, Horizontal eyebrow, Conductive hearing impairment, Ocular albinism, Low-...	ORPHA:1606
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Ectopia pupillae, Microphthalmia, Abnormality of retinal pigmentation, Cone/con...	ORPHA:85167
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Macular edema, Alopecia, Posterior synechiae of the anterior chamber...	ORPHA:79098
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental...	OMIM:613154
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia	ORPHA:199296
Acute Radiation Syndrome	Cataract, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin, Optic neuropathy, Sensorineural hearing impairment	OMIM:620237
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches, Sensorineural hearin...	ORPHA:53271
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Lens subluxation, Hypopigmentation of the skin, Ectopia lentis, Brittle hair	OMIM:236200
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Conjunctival telangiectasia, F...	OMIM:618373
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Astigmatism, Hyperpigmentation of the skin	ORPHA:35125
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Pigmentary retinopathy, Peters anomaly, Frontal upsweep of hair, Axenfeld anomaly, ...	OMIM:612582
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Optic atrophy, Hypoglycemia	OMIM:608688
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Nephrogenic Diabetes Insipidus	Hypernatremia	ORPHA:223
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:614736
Koolen-De Vries Syndrome	Iris hypopigmentation, Cataract, Fair hair, Abnormality of hair texture, Overfolded helix, Anteve...	OMIM:610443
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cataract, Hearing impairment, Sensorineural hearing impair...	OMIM:222300
Cronkhite-Canada Syndrome	Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, General...	ORPHA:2930
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Retinal pigment epithelial mottling	OMIM:617102
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Retinopathy, Abnormality of skin pigmentation	ORPHA:743
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Cataract, Pigmentary retinopathy, Abnormal helix morphology, Hearing impairment, Op...	OMIM:214100
Isolated Split Hand-Split Foot Malformation	Aniridia, Sensorineural hearing impairment	ORPHA:2440
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Hearing impairment, White forelock, Sensorineural hearing impairment,...	OMIM:609136
Familial Dysautonomia	Optic atrophy, Impaired pain sensation, Abnormal pupil morphology, Heterochromia iridis, Hyponatr...	ORPHA:1764
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Melanocytic nevus, Blue irides, Hearing impairment	OMIM:101800
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi...	ORPHA:167
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Per...	OMIM:613843
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98754
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy	ORPHA:79095
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp...	ORPHA:79145
Alg8-Cdg	Cataract, Optic atrophy, Retinopathy, Hyponatremia, Ataxia	ORPHA:79325
Pontocerebellar Hypoplasia, Type 7	Low-set ears, Optic atrophy, Hypopigmentation of the skin, Hirsutism, Macrotia, Synophrys	OMIM:614969
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypopigmentation of the fundus, Ectopia pupillae, Retinal arteriolar tortuosity, Hyp...	OMIM:175780
Retinoblastoma	Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobl...	ORPHA:790
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin, Corneal opacity	OMIM:163200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98793
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo, Hearing impairment	OMIM:221350
Neuroocular Syndrome 1	Low-set ears, Small nail, Hypoplasia of the fovea, Brittle hair, Microphthalmia, Lens coloboma, B...	OMIM:619539
Obesity And Hypopigmentation	Red hair	OMIM:620195
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177904
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches, Hearing impairment, Abnormal antihelix ...	ORPHA:96061
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Optic atrophy, Cataract, Hypertrichosis, Abnormality of skin pigmentation, Micropht...	OMIM:612379
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177901
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Werner Syndrome	Abnormal hair whorl, Cataract, Premature graying of hair, White forelock, Abnormality of retinal ...	ORPHA:902
D-Lactic Aciduria With Gout	Aniridia	OMIM:245450
3Q29 Microduplication Syndrome	Low-set ears, Cataract, Hearing impairment, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:251038
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Optic atrophy, Pigmentary retinopathy, Cataract, Abnormal helix morphology, Small n...	OMIM:614866
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Nail-Patella Syndrome	High anterior hairline, Toenail dysplasia, Fingernail dysplasia, Antecubital pterygium, Primary c...	ORPHA:2614
Oculocerebrocutaneous Syndrome	Alopecia, Hypopigmented skin patches, Hearing impairment, Abnormal fingernail morphology, Corneal...	ORPHA:1647
Usher Syndrome	Cataract, Astigmatism, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Tin...	ORPHA:886
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Fair hair, Hearing impairment, Facial hirsutism, Nail dystroph...	OMIM:604292
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Incontinentia Pigmenti	Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morp...	ORPHA:464
Hereditary Coproporphyria	Hyponatremia, Facial hirsutism, Extension of hair growth on temples to lateral eyebrow, Abnormal ...	ORPHA:79273
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Microcornea, Optic disc coloboma, Heterochromia iridis, Low posterior hair...	ORPHA:2995
Hyperkalemic Periodic Paralysis	Paresthesia, Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyper...	ORPHA:682
Neurofibromatosis Type 1	Cataract, Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Hearing impairm...	ORPHA:636
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Rabin-Pappas Syndrome	Cataract, Highly arched eyebrow, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic ...	OMIM:620155
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Cafe-au-lait spot	OMIM:619719
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Distichiasis	OMIM:600462
Aicardi Syndrome	Optic atrophy, Sparse lateral eyebrow, Optic disc coloboma, Chorioretinal coloboma, Abnormality o...	ORPHA:50
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Cohen Syndrome	Optic atrophy, Bull's eye maculopathy, Thick eyebrow, Chorioretinal dystrophy, Bone spicule pigme...	OMIM:216550
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Hypertrichosis, Corneal scarring, Hirsutism, Hyperpigmentation of t...	ORPHA:101330
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Simple ear, Chorioretinal ...	OMIM:618733
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Conductive hearing impairment, Fair hair, Sparse eyelashes, Na...	OMIM:129900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate brown pigmentation...	ORPHA:79396
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Nail dystrophy, Hirsutism, Spotty hypopigmentation, Low posterior hairline, ...	OMIM:300860
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Cataract, Abnormal optic nerve morphology, Abnormal hair morphology, Leukonychia, ...	ORPHA:2526
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Ridged nail, Sensorineural hearing impairment, Anonychia, Les...	OMIM:161200
Incontinentia Pigmenti	Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Microphthalmia, Sparse hair, O...	OMIM:308300
Ramon Syndrome	Pigmentary retinopathy, Hearing impairment, Hypertrichosis, Axenfeld anomaly, Optic disc pallor	OMIM:266270
Chromosome 8Q21.11 Deletion Syndrome	Low-set ears, Cataract, Pigmentary retinopathy, Sensorineural hearing impairment, Protruding ear,...	OMIM:614230
Marfan Syndrome	Cataract, Microspherophakia, Ectopia lentis, Hypoplasia of the iris, Astigmatism, Retinal detachment	OMIM:154700
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Hearing impairment, Abnormal earlobe morphology, Microphthalmia, Abno...	ORPHA:2556
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Diabetes mellitus	OMIM:613845
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Phace Syndrome	Retinal vascular malformation, Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens...	ORPHA:42775
Mucopolysaccharidosis, Type Ii	Hearing impairment, Hypertrichosis, Recurrent otitis media, Abnormality of retinal pigmentation, ...	OMIM:309900
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Cataract, Hearing impairment, Anophthalmia, Absent brainst...	ORPHA:90321
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys	ORPHA:1295
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Nephroblastoma	Aniridia	ORPHA:654
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin,...	OMIM:267700
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Harrod Syndrome	Protruding ear, Cataract, Hypopigmented skin patches	ORPHA:2115
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Porphyria, Congenital Erythropoietic	Alopecia, Hypopigmentation of the skin, Hypertrichosis, Corneal scarring, Loss of eyelashes, Hype...	OMIM:263700
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Porphyria Variegata	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:79473
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Fanconi Anemia	Cataract, Irregular hyperpigmentation, Hypopigmented skin patches, Hearing impairment, Astigmatis...	ORPHA:84
Noonan Syndrome	Coarse hair, Low-set, posteriorly rotated ears, Melanocytic nevus, Aplasia of the semicircular ca...	ORPHA:648
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Ataxia-Telangiectasia	Premature graying of hair, Type II diabetes mellitus, Tremor, Multiple cafe-au-lait spots, Ataxia...	ORPHA:100
Neurofibromatosis, Familial Spinal	Lisch nodules, Cafe-au-lait spot, Freckling	OMIM:162210
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation	OMIM:616353
Whipple Disease	Insulin resistance, Generalized hyperpigmentation, Hyponatremia, Ataxia, Uveitis	ORPHA:3452
Kearns-Sayre Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment	OMIM:530000
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Hearing impairment, Thick hair	OMIM:617675
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Hearing impairment, Thick hair	ORPHA:502423
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Wagro Syndrome	Low-set ears, Cataract, Aniridia, Corneal opacity	OMIM:612469
Marfan Syndrome	Ectopia lentis, Hypoplasia of the iris, Retinal detachment, Lens subluxation, Flat cornea, Lens l...	ORPHA:558
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Cataract, Ectopia lentis, Abnormality of retinal pigmentation, Retinal detachment,...	ORPHA:394
Focal Dermal Hypoplasia	Low-set ears, Chorioretinal coloboma, Supernumerary nipple, Absent toenail, Anophthalmia, Brittle...	OMIM:305600
Colchicine Poisoning	Alopecia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blo...	ORPHA:31824
Meckel Syndrome	Optic atrophy, Microcornea, Cataract, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of th...	ORPHA:564
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia	OMIM:194072
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Oculoauricular Syndrome	Low-set ears, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod ...	OMIM:612109
Slc35A2-Cdg	Hypopigmentation of the skin, Sensorineural hearing impairment	ORPHA:356961
Coffin-Lowry Syndrome	Optic atrophy, Cataract, Hypoplastic fingernail, Hyperconvex fingernails, Abnormality of retinal ...	ORPHA:192
Generalized Pustular Psoriasis	Hypoalbuminemia, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Sim1-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Familial Glucocorticoid Deficiency	Generalized hyperpigmentation, Hyponatremia, Ketotic hypoglycemia, Hypoglycemic seizures, Hyperka...	ORPHA:361
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Sensorineural hearing impairment, Conjunctivitis, Chronic o...	ORPHA:47
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hirsutism, Hyponatremia, Hyperpigmentation of the skin, Hyperkalemia, Neonatal hypoglycemia, Incr...	ORPHA:90791
Dyskeratosis Congenita, Autosomal Recessive 3	Nail dystrophy, Abnormality of skin pigmentation	OMIM:613988
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia...	OMIM:219800
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Abnormal optic nerve morphology, Megalocornea, Aniridia, Anophthalmia, Abnormal vitreous humor mo...	ORPHA:1101
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai...	ORPHA:678
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Gapo Syndrome	Low-set ears, Optic atrophy, Alopecia, Sparse eyebrow, Keratoconus, Hypopigmented skin patches, H...	ORPHA:2067
Mismatch Repair Cancer Syndrome 1	Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling	OMIM:276300
Infant Botulism	Hyponatremia, Mydriasis, Keratoconjunctivitis sicca	ORPHA:178478
Renal Hypoplasia, Bilateral	Glycosuria, Hyperkalemia, Hyponatremia, Astigmatism	ORPHA:97362
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Bilateral sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cafe-au-lait spot, Hypopigmented skin patches, Curly hair	ORPHA:457485
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal...	ORPHA:209959
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Somatic sensory dysfunction, Elevated circulating creatine kinase conc...	ORPHA:101082
Acute Adrenal Insufficiency	Hypoglycemia, Vitiligo, Hyperuricemia, Hyponatremia, Sparse axillary hair, Hyperpigmentation of t...	ORPHA:95409
Cholera	Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration	ORPHA:173
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Trisomy 18	Cataract, Microcornea, Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Ab...	ORPHA:3380
Bloom Syndrome	Hypopigmentation of the skin, Hypertrichosis, Spotty hypopigmentation, Protruding ear, Cafe-au-la...	OMIM:210900
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypoglycemia, Vitiligo, Hyperuricemia, Hyponatremia, Hypercalcemia	ORPHA:199299
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Pigmentary retinopathy, Peters anomaly, Hearing impairment, Microphthalmia, Sclerocorne...	OMIM:309801
Juvenile Glaucoma	Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art...	ORPHA:98977
Rothmund-Thomson Syndrome	Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen...	ORPHA:2909
Holoprosencephaly	Highly arched eyebrow, Optic atrophy, Chorioretinal coloboma, Hypoglycemia, Chorea, Thick eyebrow...	ORPHA:2162
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hypona...	OMIM:610505
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ...	ORPHA:100924
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperpigmentation of the skin, Hyperkalemia, Hypoglycemia	ORPHA:90790
Ruvalcaba Syndrome	Generalized hirsutism, Hypopigmented skin patches	ORPHA:3121
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Recurrent hypoglycemia, Alopecia totalis, Nail dystrophy, Hyponatremia, Abnormality of ...	ORPHA:293978
Juvenile Nephropathic Cystinosis	Hypouricemia, Abnormal cornea morphology, Corneal crystals, Glycosuria, Elevated circulating crea...	ORPHA:411634
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior syn...	ORPHA:91500
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Coarse hair, Cataract, Hearing impairment, Conductive hear...	ORPHA:581
Snakebite Envenomation	Hyponatremia	ORPHA:449285
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Ataxia, Increased circulating ferritin concentration, Increased total bilirubin,...	OMIM:603553
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Conductive hearing impairment, Aniridia, Hypertensive retinopathy, ...	ORPHA:29072
Bardet-Biedl Syndrome 1	Cataract, Hearing impairment, Hyperautofluorescent macular lesion, Attenuation of retinal blood v...	OMIM:209900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Sensorineural hearing impairment	OMIM:220110
Localized Scleroderma	Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia, Hyperpigm...	ORPHA:90289
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Sensorineural hearing impairment	ORPHA:96180
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Keratoconjunctivitis, Sca...	ORPHA:95159
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology	ORPHA:1617
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Juvenile cataract, Na...	ORPHA:221008
Nijmegen Breakage Syndrome	Progressive vitiligo, Retinal pigment epithelial mottling, Recurrent otitis media, Conjunctival t...	OMIM:251260
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia...	ORPHA:1667
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Alg12-Cdg	Hypoalbuminemia, Small nail, Recurrent hypoglycemia, Hypocholesterolemia, Low posterior hairline,...	ORPHA:79324
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Conductive hearing impairment, Ectopia pupillae, Hyperconvex fingernails, ...	OMIM:194190
Brittle Cornea Syndrome	Conductive hearing impairment, Corneal scarring, Abnormality of hair pigmentation, Sensorineural ...	ORPHA:90354
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Dry hair, Cataract, Retinal pigment epithelial mottling, A...	OMIM:216400
Necrotizing Enterocolitis	Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:617053
Adrenal Hypoplasia, Congenital	Hyponatremia, Hyperpigmentation of the skin	OMIM:300200
Bloom Syndrome	Uveitis, Hypopigmentation of the skin, Retinopathy, Otitis media, Sparse eyelashes, Patchy alopec...	ORPHA:125
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati...	ORPHA:157850
Chromomycosis	Keratoconjunctivitis sicca, Keratitis, Hypopigmented skin patches	ORPHA:182
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia	OMIM:619381
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Optic atrophy, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Pituitary Apoplexy	Hyponatremia, Mydriasis, Hypoglycemia	ORPHA:95613
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia	ORPHA:1930
Shigellosis	Hypoglycemia, Abnormal blood ion concentration, Hyponatremia, Conjunctivitis, Corneal ulceration,...	ORPHA:810
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Juvenile cataract, Na...	ORPHA:221016
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Pigmentary retinopathy, Trichiasis, Peters anomaly, Corneal scarring, Sens...	OMIM:618460
Addison Disease	Type I diabetes mellitus, Hypoglycemia, Vitiligo, Hyperuricemia, Hyponatremia, Sparse axillary ha...	ORPHA:85138
Cockayne Syndrome	Lentiglobus, Dry hair, Microphthalmia, Optic disc pallor, Corneal ulceration, Retinal dystrophy, ...	ORPHA:191
Xeroderma Pigmentosum	Optic atrophy, Alopecia, Cataract, Keratitis, Hypopigmented skin patches, Hearing impairment, Pte...	ORPHA:910
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Chorea, Generalized dystonia, Ataxia	ORPHA:70472
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Trisomy 8P	Conductive hearing impairment, Aplasia/Hypoplasia of the tragus, Abnormal middle ear morphology, ...	ORPHA:264450
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration	OMIM:234200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Hypertrichosis, Long eyelashes, Abnormality of retinal pigmentation, Thick hair, C...	ORPHA:505248
Eec Syndrome	Sparse eyebrow, Coarse hair, Keratitis, Fine hair, Thick eyebrow, Nail dystrophy, Sensorineural h...	ORPHA:1896
Trichohepatoenteric Syndrome 1	Low-set ears, Fine hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Generalized hypopigmentat...	OMIM:222470
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Legionnaires Disease	Hyponatremia, Ataxia	ORPHA:549
Cartilage-Hair Hypoplasia	Sparse eyebrow, Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Aplasia/H...	ORPHA:175
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Sheehan Syndrome	Sparse pubic hair, Hypoglycemia, Breast hypoplasia, Hyponatremia, Sparse axillary hair	ORPHA:91355
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Melas	Optic atrophy, Pigmentary retinopathy, Hypertrichosis, Vitiligo, Sensorineural hearing impairment	ORPHA:550
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Myopic astigmatism, Recurrent otitis media, Posteriorly rotated ear...	OMIM:301066
Dyskeratosis Congenita	Cataract, Alopecia, Hypopigmented skin patches, Hypermelanotic macule, White hair, Premature gray...	ORPHA:1775
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Low-set ears, Aplasia/Hypoplasia of the earlobes, Hypopigmented skin patches, Fine hair, Sensorin...	ORPHA:2637
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Alopecia, Generalized hypopigmentation, Retinal dystrophy, Optic nerve hypoplasia	OMIM:619321
Down Syndrome	Brushfield spots, Conductive hearing impairment, Microtia	OMIM:190685
Japanese Encephalitis	Pill-rolling tremor, Tremor, Hyponatremia, Opisthotonus, Dystonia, Choreoathetosis	ORPHA:79139
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hypopigmented skin pat...	ORPHA:206436
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Alstrom Syndrome	Alopecia, Pigmentary retinopathy, Progressive sensorineural hearing impairment, Attenuation of re...	OMIM:203800
Brittle Cornea Syndrome 1	Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus	OMIM:229200
Rothmund-Thomson Syndrome, Type 3	Spotty hypopigmentation, Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair	OMIM:615789
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Hypopigmentation of the skin, Megalocornea, Recurrent otitis media, Opacification...	OMIM:252500
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:613090
Syndromic Diarrhea	Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati...	ORPHA:84064
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Fine hair, Abnormal pupil morphology, Hyponatremia, Hypokalemia, Hypophosp...	ORPHA:534
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Generalized hyperpigmentation, Hyponatremia, Gene...	ORPHA:168558
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu...	ORPHA:91495
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Squalene Synthase Deficiency	Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E...	OMIM:618156
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Generalized hyperpigmentation, Hyponatremia, Gene...	ORPHA:289548
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Cataract, Abnormality of retinal pigmentation, Sensorineural hearing im...	OMIM:272460
Abetalipoproteinemia	Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, ...	ORPHA:14
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Proteus Syndrome	Low-set ears, Cataract, Retinal nonattachment, Irregular hyperpigmentation, Central heterochromia...	ORPHA:744
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Otosclerosis, Conductive hearing impairment, Retinopathy, Abnormality of retinal p...	ORPHA:217085
Mucopolysaccharidosis Type 2	Optic atrophy, Otosclerosis, Conductive hearing impairment, Retinopathy, Abnormality of retinal p...	ORPHA:580
Williams Syndrome	Cataract, Megalocornea, Retinal arteriolar tortuosity, Abnormal fingernail morphology, Low-set, p...	ORPHA:904
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cataract, Abnormality of retinal pigmentation, Hearing impairment	ORPHA:466768
Alagille Syndrome 1	Low-set ears, Cataract, Pigmentary retinopathy, Microcornea, Band keratopathy, Chorioretinal atro...	OMIM:118450
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic atrophy, Abnormality iris morphology, Megalocornea, Elevated circulating creatine...	ORPHA:370959
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Alopecia, Hypopigmentation of the skin, Fair hair, Hearing impairment, Recurrent o...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Alopecia, Hypopigmentation of the skin, Fair hair, Hearing impairment, Recurrent o...	ORPHA:363958
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Otosclerosis, Conductive hearing impairment, Retinopathy, Abnormality of retinal p...	ORPHA:217093
Bone Marrow Failure Syndrome 3	Cupped ear, Small nail, Hearing impairment, Nail dystrophy, Hypomelanotic macule, Astigmatism, Ap...	OMIM:617052
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Keratoconjunctivitis, Sca...	ORPHA:79277
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin patches, Hearing impairment, ...	ORPHA:2907
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal...	ORPHA:79282
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Retinal pigment epithelial mottling, Sensorineural hearing impairment	OMIM:607459
Kindler Syndrome	Symblepharon, Spotty hyperpigmentation, Ridged nail, Spotty hypopigmentation, Corneal erosion	OMIM:173650
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Sensorineural hearing impairment	ORPHA:255210
Coats Disease	Leukocoria, Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Degcags Syndrome	Low-set ears, Hypopigmentation of the skin, Hearing impairment, Premature graying of hair, Hypert...	OMIM:619488
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Low-set ears, Pigmentary retinopathy, Macrotia	OMIM:277400
Acute Intermittent Porphyria	Hyponatremia, Somatic sensory dysfunction, Tremor	ORPHA:79276
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Red hair, Hyperbilirubinemia	OMIM:609734
Pearson Syndrome	Cataract, Pigmentary retinopathy, Hearing impairment, Corneal stromal edema, Hyperpigmentation of...	ORPHA:699
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cataract, Hypopigmentation of the skin, Cupped ear, Hearing impairment, Chorioretinal coloboma, M...	OMIM:619475
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Lumbar hypertrichosis, Hearing impairment, Nail dystrophy, Low posterior hai...	ORPHA:163956
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin, Hearing impairment	ORPHA:1724
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Corneal scarring, Corneal neovascularization, Cone/cone-ro...	ORPHA:404454
Lipodystrophy, Familial Partial, Type 7	Low-set ears, Cataract, Pigmentary retinopathy, Tinnitus, Developmental cataract, Sparse hair, Sp...	OMIM:606721
Adenohypophysitis	Hyponatremia	ORPHA:95512
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Symblepharon, Trichiasis, Hypopigmentation of the skin, Keratitis, Nail dystrophy, Chemosis, Conj...	ORPHA:95455
Mend Syndrome	Low-set ears, Cataract, Anterior polar cataract, Spotty hypopigmentation, Macular hypoplasia, Ove...	OMIM:300960
Panhypophysitis	Hyponatremia	ORPHA:95513
Oculodentodigital Dysplasia	Ataxia, Cataract, Microcornea, Optic atrophy, Abnormality iris morphology, Fine hair, Hypoglycemi...	ORPHA:2710
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia, Ataxia	OMIM:618426
Tuberous Sclerosis 1	Preauricular hair displacement, Hypomelanotic macule, Subungual fibromas, Achromatic retinal patc...	OMIM:191100
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Spondyloenchondrodysplasia With Immune Dysregulation	Low-set ears, Recurrent otitis media, Vitiligo, Hypermelanotic macule, Hypopigmented skin patches...	OMIM:607944
Pitt-Hopkins Syndrome	Abnormal helix morphology, Hypopigmented skin patches, Supernumerary nipple, Astigmatism, Thicken...	ORPHA:2896
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia	ORPHA:544482
Prader-Willi Syndrome	Frontal upsweep of hair, Generalized hypopigmentation	OMIM:176270
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:602522
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s...	OMIM:210720
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Retinal arteriolar tortuosity, Recurrent otitis media, Lar...	OMIM:194050
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hyperkalemia, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:275761
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Frontal balding, Hirsutism, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia	ORPHA:90794
Hec Syndrome	Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract	ORPHA:2119
Bartter Syndrome Type 4	Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	ORPHA:89938
Cancer-Associated Retinopathy	Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app...	ORPHA:71505
Mend Syndrome	Low-set ears, Cataract, Abnormal auditory evoked potentials, Spotty hypopigmentation, Microphthalmia	ORPHA:401973
Cowden Syndrome	Cataract, Hypopigmented skin patches, Hearing impairment, Melanocytic nevus, Conjunctival hamarto...	ORPHA:201
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Liver Disease, Severe Congenital	Dry hair, Increased circulating ferritin concentration, Hyperbilirubinemia, Nail dystrophy, Hypoc...	OMIM:619991
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Tuberous Sclerosis 2	Hearing impairment, Hypomelanotic macule, Subungual fibromas, Achromatic retinal patches, Cafe-au...	OMIM:613254
Sarcoidosis	Cataract, Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin, Keratoconjunctiv...	ORPHA:797
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperglycemia, Hyperlipidemia, Impaired pain sensation	ORPHA:293987
X-Linked Intellectual Disability, Snyder Type	Low-set ears, Sparse eyebrow, Cupped ear, Asymmetry of the ears, Patchy hypo- and hyperpigmentati...	ORPHA:3063
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Wiedemann-Rautenstrauch Syndrome	Aplasia/Hypoplasia of the nails, Optic atrophy, Pigmentary retinopathy, Cataract, Low-set ears, O...	ORPHA:3455
Systemic Sclerosis	Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia	ORPHA:90291
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Small nail	ORPHA:250999
22Q11.2 Deletion Syndrome	Low-set ears, Optic atrophy, Cataract, Small earlobe, Conductive hearing impairment, Hypopigmente...	ORPHA:567
Koolen-De Vries Syndrome	Abnormality of hair texture, Cataract, Hypopigmentation of hair	ORPHA:96169
Hardikar Syndrome	Pigmentary retinopathy, Mild hearing impairment	OMIM:301068
Sotos Syndrome	Cataract, Hypopigmentation of the skin, Conductive hearing impairment, Small nail, Hearing impair...	ORPHA:821
Pallister-Killian Syndrome	Hyperpigmented streaks, Cataract, Sparse eyebrow, Hypopigmentation of the skin, Alopecia, Low-set...	OMIM:601803
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Increased serum bile acid concentration	ORPHA:731
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level	OMIM:201750
Menkes Disease	Sparse hair, Hypoglycemia, Chorea, Hypopigmentation of hair, Woolly hair	ORPHA:565
Microphthalmia, Syndromic 1	Low-set ears, Microcornea, Hearing impairment, Optic disc coloboma, Chorioretinal coloboma, Recur...	OMIM:309800
Smith-Lemli-Opitz Syndrome	Cataract, Optic atrophy, Elevated circulating 7-dehydrocholesterol concentration, Sclerocornea, A...	ORPHA:818
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387

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 Slc24a5

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 Slc24a5.

No publications found that use IMPC mice or data for Slc24a5.

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
Slc24a5^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice
Slc24a5^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Slc24a5^{tm43958(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc24a5^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Slc24a5 MGI:2677271

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

Sleep Wake

Combined SHIRPA and Dysmorphology

X-ray

X-ray

X-ray

Adult LacZ

X-ray

Auditory Brain Stem Response

Electroretinography 2

Human diseases caused by Slc24a5 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data