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Gene: Hps5 MGI:2180307

Gene Summary

Name:

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

Synonyms:

ruby eye 2, ru-2, Hermansky-Pudlak syndrome 5, ru2

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
abnormal iris pigmentation	Hps5^em1(IMPC)J	HOM	Early adult	4.07×10^-21
hyperactivity	Hps5^em1(IMPC)J	HOM	Early adult	4.00×10^-05
abnormal coat/hair pigmentation	Hps5^em1(IMPC)J	HOM	Early adult	1.97×10^-09
decreased leukocyte cell number	Hps5^em1(IMPC)J	HOM	Early adult	3.30×10^-05
abnormal behavior	Hps5^em1(IMPC)J	HOM	Early adult	2.76×10^-10
abnormal iris transillumination	Hps5^em1(IMPC)J	HOM	Early adult	1.19×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

12 Images

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Eye Morphology

Images Slit Lamp

23 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Electroretinography 3

Fundus file

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Electrocardiogram (ECG)

Waveform Image

18 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Hps5 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 Hps5 (1 diseases)
Human diseases predicted to be associated with Hps5 (1032 diseases)

The table below shows human diseases associated to Hps5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hermansky-Pudlak Syndrome 5		Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de...	OMIM:614074

The table below shows human diseases predicted to be associated to Hps5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Linear Atrophoderma Of Moulin	Linear hyperpigmentation	ORPHA:140933
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
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia	OMIM:608404
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype...	ORPHA:241
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
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
Glanzmann Thrombasthenia 2	Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ...	OMIM:619267
Athrombia, Essential	Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega...	OMIM:209050
Bleeding Disorder, Platelet-Type, 11	Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu...	OMIM:614201
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:607624
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections	ORPHA:90023
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation	OMIM:103500
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II...	OMIM:273800
Bleeding Disorder, Platelet-Type, 18	Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu...	OMIM:615888
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair	OMIM:606574
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit...	OMIM:155100
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:620199
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Choroideremia	Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Numm...	OMIM:303100
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Macular dystrophy, ...	OMIM:608051
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris tran...	OMIM:619165
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Deafness, Congenital, With Total Albinism	Albinism, Hearing impairment	OMIM:220900
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Gastric Cancer	Increased level of L-fucose in urine	OMIM:613659
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Glanzmann Thrombasthenia	Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi...	ORPHA:849
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Anonychia With Flexural Pigmentation	Anonychia, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Von Willebrand Disease, Type 3	Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge...	OMIM:277480
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Slc35A1-Cdg	Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate...	ORPHA:238459
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Hearing impairment, Abnormality of skin pigmentation	OMIM:300719
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time	OMIM:185050
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat...	ORPHA:75376
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire...	OMIM:139090
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Phenylketonuria	Cataract, Fair hair, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disord...	OMIM:261600
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Piebald Trait With Neurologic Defects	White forelock, Hearing impairment, Absent pigmentation of the ventral chest	OMIM:172850
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
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-growing hair...	ORPHA:170
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Hypopigmentation of the skin	OMIM:610798
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles, Patchy hypo...	OMIM:601706
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ...	ORPHA:69125
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Myh9-Related Disease	Giant platelets, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurrent epistax...	ORPHA:182050
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab...	ORPHA:89838
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet...	ORPHA:231393
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Intellectual Developmental Disorder, Autosomal Dominant 33	Chorioretinal degeneration, Hyperactivity	OMIM:616311
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Polyphagia, Hyperact...	ORPHA:411515
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,...	OMIM:619271
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Thrombocytopenia 9	Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombo...	OMIM:620478
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation...	ORPHA:79399
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p...	OMIM:601399
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ...	OMIM:187800
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Leukocyt...	ORPHA:3318
Intellectual Developmental Disorder, Autosomal Recessive 38	Recurrent hand flapping, Self-mutilation, Aggressive behavior, Blue irides, Hyperactivity	OMIM:615516
Griscelli Syndrome Type 1	Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair	ORPHA:79476
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Choroideremia	ORPHA:99000
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Polyphagia, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal...	ORPHA:352731
Gemignani Syndrome	Hypopigmented skin patches, Sensorineural hearing impairment	ORPHA:2074
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Oliver-Mcfarlane Syndrome	Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo...	OMIM:275400
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Hermansky-Pudlak Syndrome 7	Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi...	OMIM:614076
Hematuria, Benign Familial, 1	Hematuria, Thin glomerular basement membrane	OMIM:141200
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu...	OMIM:611521
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Beaten bronze macular sheen, Cone/cone-rod dystrophy, Bone ...	OMIM:614500
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Progressive Hemifacial Atrophy	Heterochromia iridis, Irregular hyperpigmentation	ORPHA:1214
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Aggressive behavior, Fair hair, Developmental cataract	OMIM:618808
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Hearing impairment, Abnormality of skin pigmentation	ORPHA:2222
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl, Iris coloboma	ORPHA:168
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe...	ORPHA:1067
Schizophrenia 15	Hyperactivity	OMIM:613950
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	OMIM:242600
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Indolylacroyl Glycinuria With Impaired Intellectual Development	Hyperglycinuria	OMIM:243050
Bleeding Disorder, Platelet-Type, 15	Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega...	OMIM:615193
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections	OMIM:613495
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Bleeding Disorder, Platelet-Type, 25	Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta...	OMIM:620486
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Immunodeficiency 51	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu...	OMIM:613953
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Eem Syndrome	Sparse body hair, Retinopathy, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystr...	ORPHA:1897
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy...	OMIM:614009
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Vitiligo, Otitis media, Recurrent...	ORPHA:275
Factor V Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee...	OMIM:227400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen...	OMIM:251270
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail...	ORPHA:2251
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Von Willebrand Disease, Type 1	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ...	OMIM:193400
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Thrombocytopenia	ORPHA:67048
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Hermansky-Pudlak Syndrome 5	Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de...	OMIM:614074
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo...	ORPHA:897
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Nail dysplasia, Abnormality of skin pigmentation, Recurrent infections, Sparse sc...	OMIM:225050
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Heimler Syndrome 1	Leukonychia, Beau's lines, Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I...	OMIM:618462
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections	OMIM:608957
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Griscelli Syndrome	Iris hypopigmentation, Silver-gray hair, Hypopigmented skin patches, White hair, Premature grayin...	ORPHA:381
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty...	ORPHA:79133
Blue Rubber Bleb Nevus	Microcytic anemia, Intestinal bleeding, Prolonged bleeding time	ORPHA:1059
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Immunodeficiency 61	Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Platelet Signal Processing Defect	Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair...	OMIM:173590
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Congenital Factor Ii Deficiency	Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ...	ORPHA:325
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ...	ORPHA:54
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Abnormality of retinal pigmentation, Uncombable hair	ORPHA:1264
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr...	OMIM:619172
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Hermansky-Pudlak Syndrome 9	Leukopenia, Hypopigmentation of the skin, Thrombocytopenia, Ocular albinism	OMIM:614171
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio...	ORPHA:158681
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches, Sensorineural hearing impairment	ORPHA:3239
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Sparse hair	ORPHA:3363
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides, Hyperactivity	OMIM:614613
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Cafe-au-lait spot, Hyperactivity	ORPHA:436151
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu...	ORPHA:3214
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair	OMIM:616371
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, Prema...	OMIM:611584
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Hyperactivity, Hirsutism	ORPHA:85288
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal n...	ORPHA:3226
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren...	OMIM:613500
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha...	ORPHA:411511
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90342
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi...	OMIM:203100
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Medullary Sponge Kidney	Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis	ORPHA:1309
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo...	ORPHA:1816
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Obesity And Hypopigmentation	Red hair	OMIM:620195
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Immunodeficiency With Hyper-Igm, Type 2	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast...	OMIM:605258
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections...	ORPHA:319552
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Uv-Sensitive Syndrome 1	Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Iris coloboma, Abnormality of retinal pigmentation	ORPHA:1259
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur...	OMIM:613501
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Tonne-Kalscheuer Syndrome	Self-injurious behavior, Small nail, Fine hair, Aggressive behavior, Blue irides, Concave nail, D...	OMIM:300978
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Specific Granule Deficiency 2	Low-set ears, Recurrent pneumonia, Sepsis, Recurrent otitis media, Hirsutism, Simple ear, Nail dy...	OMIM:617475
Chediak-Higashi Syndrome	Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Ocular a...	OMIM:214500
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Tongue thrusting, Hypopigmentation of hair, ...	ORPHA:98795
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Hypochromic anemia, White hair, Ocular albinism, Generalized hyp...	ORPHA:2720
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Edinburgh Malformation Syndrome	Hirsutism, Low posterior hairline, Generalized hirsutism, Brushfield spots, Synophrys	ORPHA:1895
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Morm Syndrome	Cataract, Aggressive behavior, Hyperactivity	ORPHA:75858
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm...	ORPHA:79402
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha...	ORPHA:98794
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, High-frequency hearing impairment, Recurrent bronchi...	OMIM:300455
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Phenylketonuria	Hypopigmentation of the skin	ORPHA:716
Self-Improving Dystrophic Epidermolysis Bullosa	Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region	ORPHA:79411
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Alopecia Totalis	Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails	ORPHA:700
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormality of retinal pigmentation, Synophrys	ORPHA:1390
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria...	OMIM:613493
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Microcytic anemia, Abnormality of the pulmonary artery, Internal hem...	ORPHA:90308
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Riboflavin Transporter Deficiency	Iris hypopigmentation, Aggressive behavior, Dysphagia	ORPHA:97229
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Joubert Syndrome 28	Highly arched eyebrow, Pigmentary retinopathy, Optic disc pallor	OMIM:617121
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy	OMIM:601957
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair	ORPHA:1573
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen	OMIM:204000
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:616873
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Thrombocytopenia 2	Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo...	OMIM:188000
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Night Blindness, Congenital Stationary, Type 1C	Abnormality of skin pigmentation	OMIM:613216
Intellectual Developmental Disorder, Autosomal Dominant 67	Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha...	OMIM:619927
Pancreatic Cancer	Increased level of L-fucose in urine	OMIM:260350
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai...	OMIM:104100
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections	OMIM:613502
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal arteriola...	OMIM:600132
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Blue irides, Genera...	OMIM:614077
Waardenburg Syndrome, Type 1	Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,...	OMIM:193500
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Conductive hearing impairment, Sensorineural hearing impairment	OMIM:610738
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Noonan Syndrome 13	Highly arched eyebrow, Head-banging, Hypertrichosis, Multiple lentigines, Low posterior hairline,...	OMIM:619087
Sjögren-Larsson Syndrome	Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d...	OMIM:153670
Free Sialic Acid Storage Disease	Iris hypopigmentation, Splenomegaly, Abnormality of skin pigmentation	ORPHA:834
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Immunodeficiency 112	Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter...	OMIM:620449
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ...	ORPHA:79153
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Myeloproliferative disorder, Iritis,...	ORPHA:158000
Immunodeficiency 7	Recurrent otitis media, Vitiligo, Patchy alopecia, Severe varicella zoster infection, Recurrent r...	OMIM:615387
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:1791
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Aplasia/Hyp...	ORPHA:85194
Coffin-Siris Syndrome 8	Self-injurious behavior, Hypertrichosis, Long eyelashes, Thick eyebrow, Aggressive behavior, Hype...	OMIM:618362
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior synechiae of the anterior chamber, Retinal pigment epithelial mottling, Abnormal macula...	ORPHA:364055
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Frontal balding, Self-mutilation, Blue irides, Early balding, Cafe-au-lait spot	ORPHA:3041
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal...	ORPHA:1807
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Self-injurious behavior, Hypopigmentation of the skin, Fair h...	ORPHA:72
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet...	OMIM:617443
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Attenuated Chédiak-Higashi Syndrome	Recurrent respiratory infections, Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Ramon Syndrome	Generalized hirsutism, Abnormality of retinal pigmentation	ORPHA:3019
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis	OMIM:620374
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Angelman Syndrome	Hypopigmentation of the skin, Fair hair, Blue irides, Hyperactivity, Paroxysmal bursts of laughter	OMIM:105830
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia...	ORPHA:906
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Recurrent bacterial infections	OMIM:612692
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Darier Disease	Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H...	ORPHA:218
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,...	ORPHA:79430
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Hermansky-Pudlak Syndrome 2	Low-set ears, Recurrent pneumonia, Fair hair, Ocular albinism, Recurrent otitis media, Aberrant m...	OMIM:608233
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Sparse hair, Macrotia, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c...	OMIM:209920
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time	ORPHA:638
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent...	OMIM:240500
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop...	ORPHA:69087
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Thrombocytopenia 10	Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou...	OMIM:620484
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,...	ORPHA:98813
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair	ORPHA:1810
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A...	ORPHA:263479
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections	OMIM:193670
T-Cell Immunodeficiency With Thymic Aplasia	Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can...	ORPHA:83471
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Cataract, Microcornea, Generalized hypopigmentation	OMIM:617306
Hermansky-Pudlak Syndrome 4	Albinism, Absent platelet dense granules, Ocular albinism	OMIM:614073
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial...	OMIM:619649
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair	OMIM:269920
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Low anterior hairline, Iridodonesis, Dysphagia, Iris transi...	OMIM:249310
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ...	OMIM:162000
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Late-Onset Retinal Degeneration	Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab...	ORPHA:67042
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Large Congenital Melanocytic Nevus	Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit...	ORPHA:626
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Al-Raqad Syndrome	Low-set ears, Hypopigmentation of the skin	OMIM:616459
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Lichen Planopilaris	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches, Onycholysis	ORPHA:525
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Adult Idiopathic Neutropenia	Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu...	ORPHA:2688
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Anemia, Hypopig...	ORPHA:2719
Hermansky-Pudlak Syndrome 6	Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai...	OMIM:614075
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2584
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a...	ORPHA:411536
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Menkes Disease	Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair	OMIM:309400
Maternal Uniparental Disomy Of Chromosome X	Low posterior hairline, Hypopigmentation of the skin	ORPHA:261519
Immunodeficiency, Common Variable, 1	Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent...	OMIM:607594
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule	OMIM:618373
Usher Syndrome Type 2	Iris hypopigmentation, Cataract	ORPHA:231178
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re...	ORPHA:572
Neovascular Glaucoma	Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio...	ORPHA:94058
Noonan Syndrome 4	Sparse eyebrow, High anterior hairline, Blue irides, Thrombocytopenia, Curly hair	OMIM:610733
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit...	OMIM:620141
Chédiak-Higashi Syndrome	Iris hypopigmentation, Abnormality of neutrophil physiology, Hypopigmentation of the skin, Spotty...	ORPHA:167
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis...	OMIM:243700
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Vitiligo, Multiple lentigines	ORPHA:101003
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Proteus-Like Syndrome	Cataract, Irregular hyperpigmentation, Thymus hyperplasia, Abnormal pupil morphology, Splenomegal...	ORPHA:2969
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Gingival bleeding, Epistaxis, Decreased proportion of CD8-positiv...	OMIM:301000
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutaneous fungal...	ORPHA:276
Sturge-Weber Syndrome	Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Attention deficit...	ORPHA:3205
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal m...	ORPHA:5
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the skin, Conge...	ORPHA:1867
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Ataxia-Telangiectasia	Hypopigmentation of hair, Multiple cafe-au-lait spots, Recurrent respiratory infections, Prematur...	ORPHA:100
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio...	ORPHA:169090
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Sparse hair, Rod-cone dystrophy	OMIM:268020
Thrombocytopenia 3	Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia	OMIM:273900
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Immunodeficiency 10	Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Nail dys...	OMIM:612783
Dyskeratosis Congenita, Autosomal Recessive 2	Recurrent opportunistic infections, Reticulated skin pigmentation, Nail dystrophy	OMIM:613987
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Hypoplasia of the thymus, ...	OMIM:214110
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Immunodeficiency 115 With Autoinflammation	Recurrent bacterial infections, Recurrent viral infections, Candida esophagitis	OMIM:620632
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Leukopenia, Hemolytic anemia, Splenomegaly, Purpura, Prolonged bleed...	ORPHA:809
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology	ORPHA:1617
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis...	ORPHA:911
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches, Sensorineural hearin...	ORPHA:53271
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy, Hypertrichosis	OMIM:256000
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:609033
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Abnormal temper tantrums, Hypopigmentation of the skin, Head-banging, Skin...	ORPHA:177907
Zika Virus Disease	Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Immunodeficiency, Common Variable, 6	Recurrent bacterial infections, Recurrent respiratory infections	OMIM:613496
Acquired Purpura Fulminans	Macular purpura, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intracranial ...	ORPHA:49566
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening...	OMIM:610984
Koolen-De Vries Syndrome	Iris hypopigmentation, Cataract, Fair hair, Hyperactivity, Abnormality of hair texture, Impulsivity	OMIM:610443
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the...	ORPHA:98793
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks	ORPHA:100996
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Abnormal bleeding, Prolonged prothrombin time, Atherosclerosis	OMIM:610842
Specific Granule Deficiency 1	Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections	OMIM:245480
Hypocomplementemic Urticarial Vasculitis	Recurrent bacterial infections, Meningitis, Irregular hyperpigmentation, Sensorineural hearing im...	ORPHA:36412
Zellweger Syndrome	Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnormal chorioretinal morpho...	ORPHA:912
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the...	ORPHA:177904
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the...	ORPHA:177901
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Selective Igm Deficiency	Recurrent bronchitis, Meningitis, Otitis media, Recurrent sinusitis, Recurrent infections, Recurr...	ORPHA:331235
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Chromomycosis	Recurrent bacterial infections, Hypopigmented skin patches	ORPHA:182
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the...	ORPHA:98754
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615986
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Ectodermal Dysplasia-Blindness Syndrome	Hearing impairment, Fine hair, Abnormal fingernail morphology, Protruding ear, Abnormality of ski...	ORPHA:1806
Dentinogenesis Imperfecta	Bruising susceptibility, Prolonged bleeding time	ORPHA:49042
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent enteroviral infections, Hearing impairment, Enteroviral dermatomyositis syndrome, Recur...	OMIM:307200
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Hypertrichosis, Recurrent urinary tract infections, Low posterior hai...	ORPHA:221139
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,...	ORPHA:183675
Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal...	ORPHA:791
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Nail dystrophy, Self-mutilation, Recurrent corneal erosions, Nail dy...	OMIM:256800
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Relapsing Fever	Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, P...	ORPHA:91547
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Alopecia universalis, Recurrent viral infections, Severe varicella zoster infection, Patchy alope...	OMIM:606367
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Nail-Patella Syndrome	High anterior hairline, Toenail dysplasia, Fingernail dysplasia, Abnormal iris pigmentation, Prim...	ORPHA:2614
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp...	ORPHA:79145
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity	ORPHA:284160
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation	ORPHA:290
Dyskeratosis Congenita, Autosomal Recessive 3	Nail dystrophy, Abnormality of skin pigmentation	OMIM:613988
Acquired Von Willebrand Syndrome	Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib...	ORPHA:99147
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Hypomelanosis Of Ito	Alopecia, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation	OMIM:616353
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections, Sparse h...	OMIM:300291
Vici Syndrome	Low-set ears, Hypopigmentation of the skin, Recurrent viral infections, Chronic mucocutaneous can...	OMIM:242840
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,...	ORPHA:163746
Whim Syndrome	Recurrent pneumonia, Sepsis, Recurrent upper respiratory tract infections, Vitiligo, Otitis media...	ORPHA:51636
Macs Syndrome	Aortic aneurysm, Bruising susceptibility, Prolonged bleeding time	OMIM:613075
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter...	OMIM:116920
Autosomal Dominant Severe Congenital Neutropenia	Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm...	ORPHA:486
Vici Syndrome	Hypopigmentation of the skin, Recurrent respiratory infections, Abnormality of retinal pigmentati...	ORPHA:1493
Prolidase Deficiency	Abnormal fingernail morphology, White forelock, Abnormality of retinal pigmentation, Low anterior...	ORPHA:742
Brittle Cornea Syndrome 1	Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus	OMIM:229200
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Hyperpigmentation of the skin	ORPHA:2176
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypopig...	ORPHA:2715
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Coarse hair, Thick eyebrow	ORPHA:585
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Sensorineural hearing impairment	OMIM:619693
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:268315
Neuroocular Syndrome 1	Cataract, Microcornea, Highly arched eyebrow, Peters anomaly, Small nail, Long eyelashes, Thick e...	OMIM:619539
Hermansky-Pudlak Syndrome 10	Albinism, Splenomegaly, Neutropenia, Ocular albinism	OMIM:617050
Duane Retraction Syndrome	Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Chorioretinal coloboma, Cen...	ORPHA:233
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233710
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti...	OMIM:601495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color	ORPHA:1824
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Brushfield spots, Dysphagia	OMIM:214100
Xeroderma Pigmentosum, Complementation Group C	Hypopigmentation of the skin, Freckling	OMIM:278720
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty hypopigmentation, ...	OMIM:300860
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ...	ORPHA:335
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233690
Omenn Syndrome	Recurrent bacterial infections, Alopecia, Recurrent viral infections, Recurrent fungal infections	OMIM:603554
Familial Dysautonomia	Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity	ORPHA:1764
Osteogenesis Imperfecta, Type Xvi	Bruising susceptibility, Prolonged bleeding time	OMIM:616229
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Ridged nail, Anonychia, Lester's sign, Concave nail, Antecubi...	OMIM:161200
Neurofibromatosis Type 1	Cataract, Inguinal freckling, Axillary freckling, Chronic myelogenous leukemia, Hypopigmented ski...	ORPHA:636
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Pigmentary retinopathy, Small nail, Hepatosplenomegaly, Opacification of the corneal st...	OMIM:614866
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Thromboc...	ORPHA:64743
Mulibrey Nanism	Pigmentary retinopathy, Iris coloboma	OMIM:253250
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent bacterial infections, Recurrent viral infections	OMIM:618048
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti...	OMIM:616005
Mucopolysaccharidosis, Type Iiib	Coarse hair, Splenomegaly, Hirsutism, Aggressive behavior, Hyperactivity, Synophrys	OMIM:252920
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Autoimmune Polyendocrinopathy Type 1	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches	ORPHA:3453
Knobloch Syndrome 1	Band keratopathy, Horizontal eyebrow, Alopecia of scalp, Chorioretinal atrophy, Iris transillumin...	OMIM:267750
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypopigmentation of the skin, Brittle hair	OMIM:236200
Purine Nucleoside Phosphorylase Deficiency	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract...	OMIM:613179
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia, White forelock, Nail dystro...	OMIM:613989
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Fair hair, Facial hirsutism, Nail dystrophy, Sparse eyelashes,...	OMIM:604292
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections	OMIM:603585
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Microcornea, Heterochromia iridis, Low posterior hairline, Iris coloboma	ORPHA:2995
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Immunodeficiency 67	Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Hepatosplenomegaly, White forelock, Heterochromia iridis, White eyebr...	OMIM:609136
Immunodeficiency 21	Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in...	OMIM:614172
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Revesz Syndrome	Ridged fingernail, Aplastic anemia, Fine hair, Megalocornea, Nail dystrophy, Macrocytic anemia, L...	OMIM:268130
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko...	OMIM:310600
Refsum Disease	Nail dysplasia, Retinopathy, Abnormality of retinal pigmentation	ORPHA:773
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Cafe-au-lait spot	OMIM:619719
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate brown pigmentation...	ORPHA:79396
Immunodeficiency 12	Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf...	OMIM:615468
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl...	OMIM:129900
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Porphyria Variegata	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:79473
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys	ORPHA:1295
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, White forelock, Abnormality of retinal pigmentati...	ORPHA:902
Immunodeficiency 23	Conductive hearing impairment, Chronic mucocutaneous candidiasis, Recurrent respiratory infection...	OMIM:615816
Immunodeficiency With Hyper-Igm, Type 1	Pneumocystis carinii pneumonia, Sepsis, Enteroviral encephalitis, Meningitis, Recurrent bacterial...	OMIM:308230
Crouzon Syndrome	Melanocytic nevus, Hypopigmented skin patches	ORPHA:207
Pontocerebellar Hypoplasia, Type 7	Hirsutism, Hypopigmentation of the skin, Synophrys	OMIM:614969
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Recurrent fungal infections, Recurr...	ORPHA:331206
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy...	ORPHA:2330
Micro Syndrome	Generalized hirsutism, Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Short Syndrome	Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon,...	ORPHA:3163
Cohen Syndrome	Optic atrophy, Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Low anterior h...	ORPHA:193
Acrodysostosis 1 With Or Without Hormone Resistance	Melanocytic nevus, Blue irides	OMIM:101800
Mannosidosis, Alpha B, Lysosomal	Hypertrichosis, Thick eyebrow, Sensorineural hearing impairment, Low anterior hairline, Recurrent...	OMIM:248500
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin, Sensorineural hearing impairment	OMIM:620237
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai...	ORPHA:678
Porphyria Cutanea Tarda	Hirsutism, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:101330
Slc35A2-Cdg	Hypopigmentation of the skin	ORPHA:356961
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Pigmentary retinopathy, Vitiligo, Nail dystrophy, Perifoveal ring...	OMIM:240300
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin	OMIM:163200
Retinoblastoma	Hypopyon, Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Leukemia, Uveitis	ORPHA:790
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Squalene Synthase Deficiency	Low-set ears, Posteriorly rotated ears, Abnormality of hair pigmentation, Macrotia	OMIM:618156
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches, Hearing impairment, Abnormal antihelix ...	ORPHA:96061
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,...	ORPHA:85167
Noonan Syndrome	Coarse hair, Juvenile myelomonocytic leukemia, Abnormality of the spleen, Melanocytic nevus, Low ...	ORPHA:648
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a...	OMIM:306900
Curry-Jones Syndrome	Generalized hirsutism, Hypopigmented skin patches	ORPHA:1553
Pgm3-Cdg	Recurrent pneumonia, Recurrent viral infections, Sepsis, Conductive hearing impairment, Recurrent...	ORPHA:443811
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Low-set ears, Posteriorly rotated ears	OMIM:241410
Cohen Syndrome	Optic atrophy, Thick eyebrow, Bull's eye maculopathy, Chorioretinal dystrophy, Bone spicule pigme...	OMIM:216550
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Porphyria, Congenital Erythropoietic	Alopecia, Hypopigmentation of the skin, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of t...	OMIM:263700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Distichiasis, Pigmentary retinopathy	OMIM:600462
Facial Spasm	Anisocoria	OMIM:134300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Retinal dysplasia, Posterior synechiae of the anterior cha...	OMIM:613154
Adult Syndrome	Absent nipple, Fair hair, Breast hypoplasia, Alopecia of scalp, Sparse axillary hair, Hypoplastic...	OMIM:103285
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Small nail, Hyposegmentation of neutrophil nuclei	ORPHA:250999
Mismatch Repair Cancer Syndrome 1	Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling	OMIM:276300
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Freckling	OMIM:610651
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Internal hemorrhage, Thrombocytopenia, Cereb...	ORPHA:244242
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy	OMIM:222300
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:306400
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cafe-au-lait spot, Hypopigmented skin patches, Curly hair	ORPHA:457485
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Abnormal hair morphology, Leukonychia, Abnormalit...	ORPHA:2526
Rothmund-Thomson Syndrome	Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen...	ORPHA:2909
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hypertrichosis	OMIM:309900
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Brittle Cornea Syndrome	Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Corneal dystroph...	ORPHA:90354
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Bloom Syndrome	Spotty hypopigmentation, Hypopigmentation of the skin, Cafe-au-lait spot, Hypertrichosis	OMIM:210900
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia	OMIM:267700
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Phacoanaphylactic Uveitis	Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ...	ORPHA:209959
Phace Syndrome	Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma	ORPHA:42775
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, P...	OMIM:603553
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia	ORPHA:99901
Syndromic Diarrhea	Recurrent infections, Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittl...	ORPHA:84064
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches	ORPHA:47
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis, Hearing impairment, Recurrent urinary tract...	OMIM:612541
Trichohepatoenteric Syndrome 1	Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Generalized hypopigmentation, Brittle h...	OMIM:222470
Ruvalcaba Syndrome	Generalized hirsutism, Hypopigmented skin patches	ORPHA:3121
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Frontal upsweep of hair	OMIM:612582
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ...	OMIM:612109
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Thick hair	ORPHA:502423
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Conductive hearing impairment, Hearing impairment, Recurrent ...	ORPHA:244
Incontinentia Pigmenti	Alopecia, Ridged fingernail, Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic ...	ORPHA:464
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Thick hair	OMIM:617675
Mirage Syndrome	Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections	OMIM:617053
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Noonan Syndrome 9	Coarctation of aorta, Prolonged prothrombin time	OMIM:616559
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper...	ORPHA:221008
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches	ORPHA:1647
Coffin-Lowry Syndrome	Hyperconvex fingernails, Optic atrophy, Abnormality of retinal pigmentation, Hypoplastic fingernail	ORPHA:192
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Pigmentary retinopathy, Hypopigmentation of the skin, R...	OMIM:219800
Shwachman-Diamond Syndrome 2	Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:617941
Down Syndrome	Brushfield spots, Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Collagenoma, Familial Cutaneous	Congenital posterior occipital alopecia, Iris atrophy	OMIM:115250
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:616271
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren...	OMIM:620565
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Megalocornea	ORPHA:370959
Dyskeratosis Congenita	Alopecia, Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal fingernail ...	ORPHA:1775
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Localized Scleroderma	Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia, Hyperpigm...	ORPHA:90289
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent fun...	OMIM:102700
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper...	ORPHA:221016
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Hypertrichosis	OMIM:266270
Gapo Syndrome	Sparse eyebrow, Alopecia, Hypopigmented skin patches, Sparse eyelashes, Early balding	ORPHA:2067
Koolen-De Vries Syndrome	Abnormality of hair texture, Cataract, Hypopigmentation of hair, Overfriendliness	ORPHA:96169
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati...	ORPHA:157850
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Aicardi Syndrome	Optic atrophy, Sparse lateral eyebrow, Chorioretinal coloboma, Optic disc coloboma, Abnormality o...	ORPHA:50
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation, Sparse scalp hair	ORPHA:394
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Trisomy 8P	Heterochromia iridis, Astigmatism, Low posterior hairline	ORPHA:264450
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Scarring alopecia of scal...	ORPHA:95159
Bloom Syndrome	Hypopigmentation of the skin, Sparse eyelashes, Patchy alopecia, Cafe-au-lait spot, Paronychia	ORPHA:125
Retinitis Pigmentosa 97	Iris atrophy	OMIM:620422
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling	OMIM:618733
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Recurrent bacterial infections, Nail dystrophy	OMIM:615895
Mucolipidosis Ii Alpha/Beta	Hypopigmentation of the skin, Sparse eyebrow, Sparse hair, Brittle hair	OMIM:252500
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology	ORPHA:98977
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Williams Syndrome	Cataract, Megalocornea, Abnormal fingernail morphology, Aplasia/Hypoplasia of the iris, Overfrien...	ORPHA:904
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Cardiac-Urogenital Syndrome	Accessory spleen, Interrupted aortic arch, Prolonged bleeding time	OMIM:618280
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Small nail	OMIM:251300
Oculodentodigital Dysplasia	Cataract, Microcornea, Abnormality iris morphology, Fine hair, Abnormal fingernail morphology, Cu...	ORPHA:2710
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis	ORPHA:79303
Eec Syndrome	Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Generalized hypopigmentati...	ORPHA:1896
Harrod Syndrome	Hypopigmented skin patches	ORPHA:2115
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Postinfectious Vasculitis	Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ...	ORPHA:48435
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterio...	ORPHA:79098
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Hypertrichosis, Long eyelashes, Abnormality of retinal pigmentation, Thick hair	ORPHA:505248
Rothmund-Thomson Syndrome, Type 3	Spotty hypopigmentation, Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair	OMIM:615789
Bardet-Biedl Syndrome 1	Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Hirsutism, Retinal deg...	OMIM:209900
Degcags Syndrome	Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol...	OMIM:619488
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Fine hair, Aplasia/Hypoplasia of the eye...	ORPHA:2637
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Alopecia, Recurrent respiratory infections, Hypoplastic fingernail, Abnormal hair morphology, Hyp...	ORPHA:2273
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Coarse hair, Hirsutism, Generalized hirsutism, Retinal deg...	ORPHA:581
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo...	ORPHA:2556
Hypermethioninemia Due To Adenosine Kinase Deficiency	Coarctation of aorta, Prolonged prothrombin time	OMIM:614300
Cystic Fibrosis	Hearing impairment, Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent...	ORPHA:586
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Cafe-au-lait spot	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Cafe-au-lait spot	ORPHA:363958
Infantile Liver Failure Syndrome 3	Splenomegaly, Prolonged prothrombin time	OMIM:618641
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Synophrys	OMIM:301066
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Hypermelanotic macule	ORPHA:90321
Sialuria	Hepatosplenomegaly, Prolonged prothrombin time	ORPHA:3166
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Focal Dermal Hypoplasia	Hypopigmentation of the skin, Supernumerary nipple, Ridged nail, Linear hyperpigmentation, Absent...	OMIM:305600
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Prolonged prothrombin time, Thrombocytosis, Anemia	ORPHA:20
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Immunodeficiency 47	Recurrent bacterial infections, Recurrent infections, Sensorineural hearing impairment	OMIM:300972
Classical Ehlers-Danlos Syndrome	Bruising susceptibility, Aortic root aneurysm, Prolonged bleeding time, Ecchymosis	ORPHA:287
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Severe cytomegalovirus infection, Recurrent fungal infections...	OMIM:619573
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Dry hair, Retinal arteriolar constriction, Fine hair, Abno...	ORPHA:191
Trisomy 18	Iris coloboma, Abnormality of retinal pigmentation, Abnormal toenail morphology	ORPHA:3380
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Splenomegaly, Prolonged prothrombin time	OMIM:613812
Cartilage-Hair Hypoplasia	Sparse eyebrow, Sparse hair, Abnormality of retinal pigmentation	ORPHA:175
Cog8-Cdg	Prolonged prothrombin time, Spontaneous hematomas	ORPHA:95428
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Scarring alopecia of scal...	ORPHA:79277
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Obsessive-compulsive trait, Attention deficit hyperactivit...	OMIM:194050
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypopigmentation of the skin, Melanocytic nevus, Thick eyebrow, Broad eyebrow, Abnormality of ski...	OMIM:619475
Leukocyte Adhesion Deficiency	Sepsis, Recurrent tonsillitis, Recurrent urinary tract infections, Nail dystrophy, Otitis media, ...	ORPHA:2968
Proteus Syndrome	Cataract, Irregular hyperpigmentation, Thymus hyperplasia, Central heterochromia, Chorioretinal c...	ORPHA:744
Prader-Willi Syndrome	Frontal upsweep of hair, Generalized hypopigmentation	OMIM:176270
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatosplenomegaly, Prolonged prothrombin time	ORPHA:367
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Dry hair, Retinal pigment epithelial mottling, Retinal atr...	OMIM:216400
Melas	Optic atrophy, Pigmentary retinopathy, Vitiligo, Hypertrichosis	ORPHA:550
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,...	ORPHA:79282
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin patches, Nail dystrophy, Dyst...	ORPHA:2907
1P36 Deletion Syndrome	Self-injurious behavior, Cataract, Horizontal eyebrow, Ocular albinism, Abnormal eyebrow morpholo...	ORPHA:1606
Abetalipoproteinemia	Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy	ORPHA:14
Shwachman-Diamond Syndrome	Recurrent bacterial infections, Recurrent viral infections, Hearing impairment, Sepsis	ORPHA:811
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Dry hair, Hypoplasia of the iris, Abnormal hair morphology...	OMIM:133540
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Mucopolysaccharidosis Type 2	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Retinal degeneration, Abnormal f...	ORPHA:580
Xeroderma Pigmentosum	Alopecia, Hypopigmented skin patches, Melanocytic nevus, Freckling, Hypermelanotic macule	ORPHA:910
Alstrom Syndrome	Alopecia, Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy	OMIM:203800
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Thrombocytosis	OMIM:212065
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Pigmentary retinopathy, Trichiasis	OMIM:618460
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:255210
Glycogen Storage Disease Ib	Recurrent bacterial infections	OMIM:232220
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Alg12-Cdg	Prolonged prothrombin time, Decreased serum insulin-like growth factor 1, Thrombocytopenia, B lym...	ORPHA:79324
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation	ORPHA:466768
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Lumbar hypertrichosis, Nail dystrophy, Low posterior hairline, Generalized h...	ORPHA:163956
Nijmegen Breakage Syndrome	Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling	OMIM:251260
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal foveal morphology, Papi...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal foveal morphology, Papi...	ORPHA:217093
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration	OMIM:234200
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Congenital Disorder Of Glycosylation, Type It	Coarctation of aorta, Decreased serum insulin-like growth factor 1, Prolonged prothrombin time	OMIM:614921
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic disc pallor, Pigmentary retinopathy, Optic atrophy, Cone/cone-rod dystrophy	ORPHA:404454
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Iris coloboma	OMIM:309801
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Abnormal bleeding, Bruising susceptibility, Lymphopenia, A...	ORPHA:99826
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s...	OMIM:210720
Spondyloenchondrodysplasia With Immune Dysregulation	Vitiligo, Hypermelanotic macule, Hypopigmented skin patches on arms	OMIM:607944
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair, Sepsis	ORPHA:565
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Sclerocornea, Abnorm...	ORPHA:818
Liver Failure, Infantile, Transient	Prolonged prothrombin time	OMIM:613070
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Yellow Fever	Abnormal bleeding, Leukocytosis, Excessive bleeding after a venipuncture, Hematemesis, Internal h...	ORPHA:99829
Monosomy 13Q34	Hematochezia, Epistaxis, Prolonged prothrombin time	ORPHA:96168
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Splenomegaly, Prolonged prothrombin time, Melena, Anemia	OMIM:276700
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Hypopigmentation of the skin, Nail dystrophy, Hyperpigmentation of the skin, Anonychia	ORPHA:95455
Kindler Syndrome	Spotty hypopigmentation, Ridged nail, Spotty hyperpigmentation	OMIM:173650
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Recurrent bacterial infections	ORPHA:79259
Oculocerebrorenal Syndrome Of Lowe	Fine hair, Sparse scalp hair, Generalized hypopigmentation	ORPHA:534
Systemic Sclerosis	Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia	ORPHA:90291
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Polycythemia, Prolonged prothrombin time	ORPHA:309854
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Generalized hypopigmentation	OMIM:619321
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:147060
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time	ORPHA:88618
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Supernumerary nipple	ORPHA:2896
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Hepatosplenomegaly, Prolonged prothrombin time, A...	ORPHA:247598
Sarcoidosis	Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia, Bleeding w...	OMIM:619525
Acute Liver Failure	Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin ti...	ORPHA:90062
Fanconi Anemia	Irregular hyperpigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Abnormality...	ORPHA:84
Isolated Biliary Atresia	Splenomegaly, Prolonged prothrombin time	ORPHA:30391
Histidinemia	Hyperactivity	ORPHA:2157
Pearson Syndrome	Pigmentary retinopathy, Hyperpigmentation of the skin, Cafe-au-lait spot	ORPHA:699
Lysinuric Protein Intolerance	Recurrent bacterial infections	ORPHA:470
Cowden Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:201
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Sparse hair, Sparse scalp hair	OMIM:606721
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Pallister-Killian Syndrome	Hyperpigmented streaks, Sparse eyebrow, Hypopigmentation of the skin, Alopecia, Supernumerary nip...	OMIM:601803
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time	OMIM:618329
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation	ORPHA:3063
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Wiedemann-Rautenstrauch Syndrome	Aplasia/Hypoplasia of the nails, Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia, Hi...	ORPHA:3455
Sotos Syndrome	Sparse anterior scalp hair, Hypopigmentation of the skin, Hyperpigmentation of the skin, Small nail	ORPHA:821
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
22Q11.2 Deletion Syndrome	Hypopigmented skin patches	ORPHA:567
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time	OMIM:311250
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Splenomegaly, Prolonged prothrombin time	ORPHA:171
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
Mend Syndrome	Spotty hypopigmentation	OMIM:300960
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections	ORPHA:642

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 Hps5

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 Hps5.

No publications found that use IMPC mice or data for Hps5.

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MGI Allele	Allele Type	Produced
Hps5^em1(IMPC)J	Exon Deletion	Mice
Hps5^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hps5^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hps5 MGI:2180307

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

X-ray

X-ray

X-ray

Electroretinography 3

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Hps5 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data