Gene: Hps3 MGI:2153839

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

Synonyms:

Hermansky-Pudlak syndrome 3

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hps3 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 Hps3 (1 diseases)
Human diseases predicted to be associated with Hps3 (571 diseases)

The table below shows human diseases associated to Hps3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hermansky-Pudlak Syndrome 3		Hypopigmentation of the skin, Abnormal bleeding, Hypopigmentation of hair, Abnormal number of den...	OMIM:614072

The table below shows human diseases predicted to be associated to Hps3 by phenotypic similarity.

Disease	Matching phenotypes	Source
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Heterochromia Iridis	Heterochromia iridis, Asymmetry of iris pigmentation	OMIM:142500
Graying Of Hair, Precocious	Premature graying of hair	OMIM:139100
Occipital Hair, White Lock Of	White hair, Abnormal hair morphology	OMIM:310900
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes	OMIM:609227
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Loose Anagen Hair Syndrome	Loose anagen hair, Sparse hair, Fair hair	OMIM:600628
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe...	OMIM:209050
Thrombocytopenia 7	Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg...	OMIM:619130
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Dilution, Pigmentary	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	OMIM:126070
Glanzmann Thrombasthenia 2	Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax...	OMIM:619267
Pseudo-Von Willebrand Disease	Prolonged bleeding time	OMIM:177820
Bleeding Disorder, Platelet-Type, 24	Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, P...	OMIM:619271
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Waardenburg Syndrome, Type 2D	Heterochromia iridis	OMIM:608890
Platelet Signal Processing Defect	Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ...	OMIM:173590
Bleeding Disorder, Platelet-Type, 18	Epistaxis, Impaired platelet aggregation, Prolonged bleeding time	OMIM:615888
Hermansky-Pudlak Syndrome 6	Ocular albinism, Epistaxis, Albinism, Macular hypoplasia, Abnormal platelet granules, Prolonged b...	OMIM:614075
Bleeding Disorder, Platelet-Type, 16	Petechiae, Anemia, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, P...	OMIM:187800
Bleeding Disorder, Platelet-Type, 11	Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility	OMIM:614201
Hermansky-Pudlak Syndrome 7	Ocular albinism, Epistaxis, Albinism, Abnormal bleeding, Impaired platelet aggregation, Bruising ...	OMIM:614076
Glanzmann Thrombasthenia 1	Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec...	OMIM:273800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombo...	ORPHA:231393
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Ocular albinism, Hypoplasia of t...	OMIM:619172
+173470 integrin, beta-3	Menorrhagia, Intracranial hemorrhage, Post-transfusion thrombocytopenia, Gingival bleeding, Epist...	OMIM:173470
Bleeding Disorder, Platelet-Type, 22	Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts	OMIM:618462
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets	OMIM:608404
Thrombocythemia 1	Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage...	OMIM:187950
Bernard-Soulier Syndrome	Menorrhagia, Gingival bleeding, Thrombocytopenia, Epistaxis, Impaired ristocetin-induced platelet...	OMIM:231200
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Abnormal bleeding, Hypopigmentation of hair, Abnormal number of den...	OMIM:614072
Bleeding Disorder, Platelet-Type, 14	Ecchymosis, Bruising susceptibility, Epistaxis, Prolonged bleeding time	OMIM:614158
Bilateral Acute Depigmentation Of The Iris	Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen...	ORPHA:69736
Bleeding Disorder, Platelet-Type, 8	Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl...	OMIM:609821
Hermansky-Pudlak Syndrome 5	Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism, Prolonged bleeding ti...	OMIM:614074
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Anterior Segment Dysgenesis 8	Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill...	OMIM:617319
Macrothrombocytopenia and progressive sensorineural deafness	Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope...	OMIM:600208
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia	ORPHA:1410
Tietz Albinism-Deafness Syndrome	Blue irides, White eyebrow, Generalized hypopigmentation, White eyelashes	OMIM:103500
Glanzmann Thrombasthenia	Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin...	ORPHA:849
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Platelet Disorder, Undefined	Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation	OMIM:173420
Von Willebrand Disease, Type 3	Menorrhagia, Thrombocytopenia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal ble...	OMIM:277480
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W...	OMIM:613265
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Pseudopili Annulati	Abnormality of the scalp hair, Abnormality of hair texture	OMIM:613241
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th...	ORPHA:42665
Platelet Aggregation, Spontaneous	Abnormal platelet function, Spontaneous platelet aggregation	OMIM:173400
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Factor V Deficiency	Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B...	OMIM:227400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Menorrhagia, Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleedi...	OMIM:155100
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm...	OMIM:619165
Sebastian syndrome	Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian...	OMIM:605249
Griscelli Syndrome, Type 1	Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega...	OMIM:214450
Albinism, Oculocutaneous, Type Iv	Blue irides, Hypopigmentation of hair, Albinism	OMIM:606574
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Prolonged bleeding time, Abnor...	OMIM:601399
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat...	OMIM:610599
Gray Platelet Syndrome	Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E...	OMIM:139090
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Menorrhagia, Alopecia, Impaired platelet aggregation	OMIM:617443
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus...	OMIM:614009
Hermansky-Pudlak Syndrome 8	Menorrhagia, Optic disc pallor, Gingival bleeding, Ocular albinism, Hypoplasia of the fovea, Epis...	OMIM:614077
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hirsutism, Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thromboc...	OMIM:314050
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Megalocornea	Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid...	OMIM:309300
Prothrombin Deficiency, Congenital	Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax...	OMIM:613679
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri...	OMIM:608051
Quebec Platelet Disorder	Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro...	OMIM:601709
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Sorsby Pseudoinflammatory Fundus Dystrophy	Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ...	ORPHA:59181
Slc35A1-Cdg	Neutropenia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged...	ORPHA:238459
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Central Areolar Choroidal Dystrophy	Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp...	ORPHA:75377
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Choroideremia	ORPHA:99000
Persistent Placoid Maculopathy	Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor...	ORPHA:97341
Fechtner syndrome	Menorrhagia, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Gi...	OMIM:153640
Familial Drusen	Hypoautofluorescent macular lesion, Abnormality of retinal pigmentation, Macular atrophy, Granula...	ORPHA:75376
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentation of the retina, Retinopathy, ...	OMIM:180210
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Bleeding Disorder, Platelet-Type, 12	Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru...	OMIM:605735
Von Willebrand Disease, Type 1	Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P...	OMIM:193400
Oliver-Mcfarlane Syndrome	Retinal degeneration, Alopecia, Long eyelashes, Central heterochromia, Pigmentary retinopathy, De...	OMIM:275400
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time	OMIM:188025
Albinism-Deafness Syndrome	Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi...	ORPHA:998
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Urocanase Deficiency	Blue irides, Fair hair	OMIM:276880
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Ermine Phenotype	White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow	OMIM:227010
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Iridocorneal Endothelial Syndrome	Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel...	ORPHA:64734
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo...	ORPHA:2585
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Waardenburg Syndrome, Type 4A	Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W...	OMIM:277580
Hemophilia B	Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro...	ORPHA:98879
Retinitis Pigmentosa 69	Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy...	OMIM:607921
Myh9-Related Disease	Menorrhagia, Increased mean platelet volume, Neutrophil inclusion bodies, Spontaneous, recurrent ...	ORPHA:182050
Retinitis Pigmentosa 32	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Photoreceptor layer loss on macu...	OMIM:609913
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Waardenburg Syndrome, Type 2A	Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White...	OMIM:193510
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Reduced delayed hypersensitivity, Hepatosplenomeg...	OMIM:607624
Progressive Hemifacial Atrophy	Heterochromia iridis, Irregular hyperpigmentation	ORPHA:1214
Bleeding Disorder, Platelet-Type, 17	Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong...	OMIM:187900
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Hermansky-Pudlak Syndrome 2	Neutropenia, Ocular albinism, Aberrant melanosome maturation, Reduced natural killer cell activit...	OMIM:608233
Laurence-Moon Syndrome	Pigmentary retinopathy	OMIM:245800
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Petechiae, Reduced natural killer cell act...	OMIM:619374
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e...	OMIM:610359
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy	OMIM:551500
Hermansky-Pudlak Syndrome 1	Abnormal hair morphology, Gingival bleeding, Ocular albinism, Freckling, Epistaxis, Albinism, Mel...	OMIM:203300
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia, Pigmentary retinopathy	OMIM:266130
Woolly Hair	Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g...	ORPHA:170
Bothnia Retinal Dystrophy	Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular...	ORPHA:85128
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini...	ORPHA:79435
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Oculocutaneous Albinism Type 3	Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme...	ORPHA:79433
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Sitosterolemia 1	Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Reticulocytosis, Chroni...	OMIM:210250
Bernard-Soulier Syndrome	Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Spontaneous, ...	ORPHA:274
Hermansky-Pudlak Syndrome 4	Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism, Abnormal platelet gra...	OMIM:614073
Choroidal Atrophy-Alopecia Syndrome	Fine hair, Abnormality of retinal pigmentation, Ungual fibroma, Abnormal toenail morphology, Spar...	ORPHA:1433
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Hermansky-Pudlak Syndrome 9	Leukopenia, Ocular albinism, Hypopigmentation of the fundus, Hypopigmentation of the skin, Thromb...	OMIM:614171
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Uncombable Hair Syndrome 3	Curly hair, Pili canaliculi, Uncombable hair	OMIM:617252
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment...	OMIM:251270
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Absent eyebrow, Retinopathy, Sparse scalp...	ORPHA:1897
Hypotrichosis 8	Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,...	OMIM:278150
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Oculocutaneous Albinism Type 1	Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment...	ORPHA:352731
Hidrotic Ectodermal Dysplasia	Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation...	ORPHA:189
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy	OMIM:614307
Retinitis Pigmentosa 11	Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ...	OMIM:600138
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Cone-Rod Dystrophy 16	Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ...	OMIM:614500
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy	ORPHA:75373
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Abnormality of the optic nerve, Intracranial hemorrhage, Acute leukemia, Bone marro...	ORPHA:3226
Congenital Corneal Opacities, Cornea Guttata, And Corectopia	Corneal opacity, Ectopia pupillae	OMIM:608484
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi...	OMIM:617123
Essential Thrombocythemia	Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly, Prolonge...	ORPHA:3318
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Multiple cafe-au-lait spots	ORPHA:638
Stargardt Disease	Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti...	ORPHA:827
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock...	ORPHA:897
X-Linked Recessive Ocular Albinism	Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Giant ...	ORPHA:54
Microphthalmia, Isolated 5	Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat...	OMIM:611040
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,...	ORPHA:49382
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Albinism, Oculocutaneous, Type Ii	Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat...	OMIM:203200
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Piebald Trait	Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve...	OMIM:172800
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Bietti Crystalline Dystrophy	Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig...	ORPHA:41751
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
White Forelock With Malformations	Poliosis, White forelock	OMIM:277740
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem...	OMIM:619007
Pigmented Paravenous Chorioretinal Atrophy	Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy	OMIM:172870
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Congenital Toxoplasmosis	Thrombocytopenia, Abnormality of retinal pigmentation, Anemia	ORPHA:858
Waardenburg Syndrome Type 2	Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema...	ORPHA:895
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza...	ORPHA:411527
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Retinitis Pigmentosa 9	Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy	OMIM:180104
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Griscelli Syndrome Type 1	White hair, Partial albinism, Iris hypopigmentation, Premature graying of hair	ORPHA:79476
Congenital Factor Ii Deficiency	Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh...	ORPHA:325
Oculocutaneous Albinism Type 2	Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov...	ORPHA:79432
Retinitis Pigmentosa 2	Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:312600
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Ocular albinism	OMIM:601220
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co...	ORPHA:215
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop...	OMIM:618697
Retinitis Pigmentosa 6	Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:312612
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 4	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613731
Facial Spasm	Anisocoria	OMIM:134300
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Anterior Segment Dysgenesis 3	Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,...	OMIM:601631
Usher Syndrome Type 3	Astigmatism, Iris hypopigmentation, Cataract	ORPHA:231183
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia ...	ORPHA:2885
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e...	OMIM:601718
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract	ORPHA:67048
Ermine Phenotype	Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ...	ORPHA:999
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma, Abnormal calcium-p...	ORPHA:2196
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio...	OMIM:618144
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy, Decreased circulating antibody level, Impaired collagen-induced ...	OMIM:604928
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Aniridia, Microcornea, Cataract	OMIM:106230
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Sparse hair, Uncombable hair	ORPHA:1264
Oculocutaneous Albinism Type 1B	Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre...	ORPHA:79434
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Thromb...	ORPHA:290
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Leber Congenital Amaurosis 2	Fundus atrophy, Pigmentary retinopathy	OMIM:204100
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:177910
Phenylketonuria	Blue irides, Generalized hypopigmentation, Cataract, Fair hair	OMIM:261600
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Aplasia Cutis-Myopia Syndrome	Abnormal bleeding, Abnormality of retinal pigmentation	ORPHA:1117
Leigh Syndrome With Leukodystrophy	Hypertrichosis, Optic atrophy, Anemia, Pigmentary retinopathy	ORPHA:255241
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Woolly Hair, Autosomal Dominant	Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair	OMIM:194300
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Congenital Factor Vii Deficiency	Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr...	ORPHA:327
Retinitis Pigmentosa 1	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:180100
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ...	ORPHA:1390
Aniridia 2	Aniridia, Cataract	OMIM:617141
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera...	ORPHA:816
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Neuroectodermal Melanolysosomal Disease	Abnormality of the optic nerve, Optic atrophy, Generalized hyperpigmentation, Aplasia/Hypoplasia ...	ORPHA:33445
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Congenital Disorder Of Glycosylation, Type Iif	Neutropenia, Decreased platelet glycoprotein Ib, Pulmonary hemorrhage, Subcutaneous hemorrhage, T...	OMIM:603585
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Senior-Loken Syndrome	Retinal dystrophy, Abnormality of retinal pigmentation	ORPHA:3156
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hyperin...	ORPHA:791
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Congenital Microcoria	Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H...	ORPHA:566
Chédiak-Higashi Syndrome	Neutropenia, Abnormal platelet function, Splenomegaly, Hepatosplenomegaly, Iris hypopigmentation,...	ORPHA:167
Zika Virus Disease	Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial...	ORPHA:448237
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Waardenburg Syndrome, Type 3	Blue irides, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, White forelock, ...	OMIM:148820
Iris Hypoplasia With Glaucoma	Iris atrophy, Hypoplasia of the iris	OMIM:308500
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris coloboma, Iris hypopig...	ORPHA:3214
Retinitis Pigmentosa 41	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst...	OMIM:612095
Albinism-Deafness Syndrome	Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism	OMIM:300700
Leber Congenital Amaurosis 1	Fundus atrophy, Pigmentary retinopathy	OMIM:204000
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Congenital Factor X Deficiency	Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr...	ORPHA:328
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Factor X Deficiency	Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr...	OMIM:227600
Ramon Syndrome	Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormality of the optic disc	ORPHA:65
Oculocutaneous Albinism	Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ...	ORPHA:55
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:411515
Joubert Syndrome 28	Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Elejalde Disease	Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega...	OMIM:256710
Klippel-Trénaunay Syndrome	Microcytic anemia, Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding time	ORPHA:90308
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood v...	OMIM:604116
Wiskott-Aldrich Syndrome, Autosomal Dominant	Absent microvilli on the surface of peripheral blood lymphocytes, Gingival bleeding, Increased ci...	OMIM:600903
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Waardenburg Syndrome, Type 2E	Blue irides, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, White eyelashes...	OMIM:611584
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:612572
Retinopathy, Pigmentary, And Mental Retardation	Pigmentary retinopathy	OMIM:268050
Waardenburg Syndrome, Type 4C	Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W...	OMIM:613266
Albinism, Oculocutaneous, Type Ia	Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Astigmatism, Hypopi...	OMIM:203100
Wolfram Syndrome 1	Optic atrophy, Megaloblastic anemia, Sideroblastic anemia, Pigmentary retinopathy, Thrombocytopenia	OMIM:222300
Oculocutaneous Albinism Type 1A	Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi...	ORPHA:79431
Retinitis Pigmentosa 56	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst...	OMIM:613581
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Intracranial hemorrhage, Chorioretinal coloboma, Generalized...	ORPHA:2481
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig...	OMIM:145350
Retinitis Pigmentosa 83	Vitreous floaters, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cystoid macular e...	OMIM:618173
Wiskott-Aldrich Syndrome	Neutropenia, Abnormal platelet function, Petechiae, Hypoplasia of the thymus, Chronic leukemia, R...	ORPHA:906
Combined Deficiency Of Factor V And Factor Viii	Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr...	ORPHA:35909
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, Hypoplastic nipples, Decre...	ORPHA:79329
Macs Syndrome	Alopecia, Prolonged bleeding time, Sparse and thin eyebrow, Sparse hair, Bruising susceptibility	OMIM:613075
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Griscelli Syndrome Type 2	Partial albinism, Neutropenia, Petechiae, Splenomegaly, Iris hypopigmentation, Pancytopenia, Hypo...	ORPHA:79477
Autoerythrocyte Sensitization Syndrome	Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Joi...	ORPHA:324636
Severe Early-Childhood-Onset Retinal Dystrophy	Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul...	ORPHA:364055
Retinitis Pigmentosa 43	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst...	OMIM:613810
Cone-Rod Dystrophy 8	Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c...	OMIM:605549
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Petechiae, Melena, Decreased circulat...	OMIM:301000
Vitreoretinochoroidopathy	Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova...	OMIM:193220
Piebaldism	Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy...	ORPHA:2884
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hyperinsulinemia	ORPHA:3085
Chediak-Higashi Syndrome	Neutropenia, Silver-gray hair, Ocular albinism, Leukopenia, Spontaneous, recurrent epistaxis, Abn...	OMIM:214500
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613464
Leber Congenital Amaurosis 15	Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy	OMIM:613843
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration	OMIM:613767
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr...	OMIM:602772
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Uveitis, Iritis, Multiple cafe-au-lait spots	ORPHA:158000
Mental Retardation, Buenos Aires Type	Blue irides, Fair hair	OMIM:249630
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Mixed Connective Tissue Disease	Leukopenia, Alopecia, Splenomegaly, Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura...	ORPHA:809
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Vici Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Decreased circulating IgG level, Hypopigmenta...	ORPHA:1493
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613617
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation	ORPHA:873
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Fair hair, Red hair	OMIM:614613
Riboflavin Transporter Deficiency	Iris hypopigmentation	ORPHA:97229
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy	ORPHA:100996
Griscelli Syndrome	Hypopigmented skin patches, Silver-gray hair, Leukopenia, White hair, Decreased circulating antib...	ORPHA:381
Retinitis Pigmentosa 10	Optic disc pallor, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:180105
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Alopecia	ORPHA:1067
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Frontofacionasal Dysplasia	Limbal dermoid, Brushfield spots, Iris coloboma, Cataract, Microcornea	ORPHA:1791
Retinitis Punctata Albescens	Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab...	ORPHA:52427
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation	ORPHA:85194
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A...	ORPHA:3437
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph...	OMIM:609033
Anisocoria	Anisocoria	OMIM:106240
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ocular albinism, White hair, Cataract, Iris hypopigmentation, Generalized hypopigmentation	ORPHA:2720
Leigh Syndrome	Optic atrophy, Hypertrichosis, Pigmentary retinopathy	OMIM:256000
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op...	OMIM:122000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Retinopathy, Chorioretina...	ORPHA:5
Late-Onset Retinal Degeneration	Iris transillumination defect, Choroidal neovascularization, Abnormal anterior eye segment morpho...	ORPHA:67042
Acute Zonal Occult Outer Retinopathy	Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig...	ORPHA:284454
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation	OMIM:108145
Prolidase Deficiency	Abnormality of retinal pigmentation, Hirsutism, Low anterior hairline, Splenomegaly, White forelo...	ORPHA:742
Anterior Segment Dysgenesis 6	Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo...	OMIM:617315
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Waardenburg Syndrome Type 1	Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ...	ORPHA:894
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Prolonged prothrombin time, Epistaxis, Abnormal bleeding, Retinal peau d'orange, Angioid streaks ...	OMIM:610842
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry...	OMIM:601375
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Coarse hair, Splenomegaly, Thick eyebrow	ORPHA:585
Cohen Syndrome	Optic atrophy, Chorioretinal dystrophy, Neutropenia, Leukopenia, Bull's eye maculopathy, Bone spi...	OMIM:216550
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Blue irides, Cafe-au-lait spot	ORPHA:3041
Joubert Syndrome 3	Highly arched eyebrow, Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Cone-Rod Dystrophy 2	Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at...	OMIM:120970
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of...	OMIM:615986
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Abnormal eyelash morphology	ORPHA:2518
Refsum Disease	Abnormality of retinal pigmentation, Nail dysplasia, Retinopathy, Splenomegaly	ORPHA:773
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy	OMIM:268100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy	OMIM:606721
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Nail dystrophy, Alopecia, Vitiligo, Decreased circulating parathyroid hormone level, Pi...	OMIM:240300
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Retinal degeneration, Pigmentary retinopathy	ORPHA:79264
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Amoebic Keratitis	Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a...	ORPHA:67043
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:98795
Noonan Syndrome	Abnormality of the spleen, Abnormal platelet function, Coarse hair, Melanocytic nevus, Abnormal b...	ORPHA:648
Waardenburg Syndrome, Type 1	Blue irides, Partial albinism, Hypoplastic iris stroma, White eyelashes, Heterochromia iridis, Wh...	OMIM:193500
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Attenuated Chédiak-Higashi Syndrome	Gingival bleeding, Ocular albinism, Epistaxis, Generalized hypopigmentation, Bruising susceptibility	ORPHA:352723
Mulibrey Nanism	Iris coloboma, Pigmentary retinopathy	OMIM:253250
Hoyeraal-Hreidarsson Syndrome	Generalized hyperpigmentation, Nail dystrophy, Bone marrow hypocellularity, Generalized hypopigme...	ORPHA:3322
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Rod-cone dystrophy, Hypothalamic gonadotropin-releasing horm...	ORPHA:2235
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Iris hypopigmentation	ORPHA:834
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Abnormality of retinal pigmentation, Hypertrichosis, Leukopenia, Decreased circula...	ORPHA:505248
Cohen Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Neutropenia, Low ant...	ORPHA:193
Peroxisome Biogenesis Disorder 5A (Zellweger)	Opacification of the corneal stroma, Brushfield spots, Cataract, Pigmentary retinopathy	OMIM:614866
Aceruloplasminemia	Abnormality of retinal pigmentation, Retinal degeneration, Hypochromic microcytic anemia, Refract...	ORPHA:48818
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Brushfield spots	ORPHA:1784
Severe Oculo-Renal-Cerebellar Syndrome	Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta...	ORPHA:2715
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Pigmentary retino...	OMIM:560000
Peroxisome Biogenesis Disorder 2A (Zellweger)	Opacification of the corneal stroma, Brushfield spots, Cataract, Pigmentary retinopathy	OMIM:214110
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pigmentary r...	ORPHA:71212
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Zellweger Syndrome	Posterior embryotoxon, Brushfield spots, Corneal opacity, Cataract, Abnormal chorioretinal morpho...	ORPHA:912
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy	OMIM:530000
Bardet-Biedl Syndrome 17	Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph...	OMIM:615994
Ataxia-Telangiectasia	Decreased circulating antibody level, Lymphopenia, Multiple cafe-au-lait spots, Hypopigmentation ...	ORPHA:100
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hypopigmentation of the ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hypopigmentation of the ...	ORPHA:71526
Acquired Purpura Fulminans	Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Thrombocytopenia, Internal ...	ORPHA:49566
Noonan Syndrome 13	Blue irides, Multiple lentigines, Cafe-au-lait spot	OMIM:619087
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:411511
Lowry-Wood Syndrome	Abnormality of nail color, Abnormality of retinal pigmentation	ORPHA:1824
Oculocerebral Hypopigmentation Syndrome, Cross Type	Choroideremia, Ocular albinism, Corneal opacity, Cataract, Iris hypopigmentation, Hypopigmentatio...	ORPHA:2719
Congenital Fibrinogen Deficiency	Gingival bleeding, Prolonged prothrombin time, Abnormality of the subungual region, Subcutaneous ...	ORPHA:335
Hermansky-Pudlak Syndrome	Abnormality of the optic nerve, Partial albinism, Abnormality of thrombocytes, Neutropenia, Ocula...	ORPHA:79430
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Leukocyte Adhesion Deficiency	Thrombocytosis, Leukocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Nail dystrophy, Bone m...	ORPHA:2968
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Acanthocytosis, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal erythrocyte m...	ORPHA:96180
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hypertrichosis, Splenomegaly	OMIM:309900
Abetalipoproteinemia	Abnormality of retinal pigmentation, Prolonged prothrombin time, Acanthocytosis, Anemia, Hypopigm...	ORPHA:14
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Anemia, Pigmentary retinopathy	OMIM:220110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Anemia, Pigmentary retinopathy	ORPHA:436271
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Generalized hirsutism, Retinal coloboma	ORPHA:2510
Noonan Syndrome 9	Prolonged prothrombin time, Curly hair, Sparse eyebrow	OMIM:616559
Acquired Hypertrichosis Lanuginosa	Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology	ORPHA:2221
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pigmentary retinopathy	OMIM:277400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Red hair	OMIM:609734
Angelman Syndrome	Blue irides, Hypopigmentation of the skin, Fair hair	OMIM:105830
Proteus-Like Syndrome	Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology, Irregular hyperpigmentation, Cat...	ORPHA:2969
Relapsing Fever	Leukocytosis, Leukopenia, Prolonged prothrombin time, Epistaxis, Anemia, Neutrophilia, Abnormal b...	ORPHA:91547
Acquired Von Willebrand Syndrome	Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Prolonged prothrombin time, Refractory a...	ORPHA:99147
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:88628
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Generalized hirsutism, Pigmentary retinopathy	ORPHA:110
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:98794
Waardenburg Syndrome	Hypopigmented skin patches, Abnormality of skin pigmentation, Heterochromia iridis, White foreloc...	ORPHA:3440
Werner Syndrome	Abnormality of retinal pigmentation, White forelock, Pili torti, Sparse scalp hair, Premature gra...	ORPHA:902
8Q21.11 Microdeletion Syndrome	Sclerocornea, Corneal opacity, Cataract, Iris hypopigmentation	ORPHA:284160
Retinoblastoma	Retinal calcification, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrh...	ORPHA:790
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Abnormal hair...	ORPHA:2526
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Neutropenia, Retinal degeneration, Subdural hemorrhage, Megaloblastic anemia, Abno...	ORPHA:79282
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Macular atrophy, Retinal thinning, Ectopia pupillae, Cone/co...	ORPHA:85167
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Retinal degeneration, Acanthocytosis, Bull's eye maculopathy, Retinal flecks, Rod-...	ORPHA:157850
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized hypopigmentation, M...	ORPHA:1969
Classic Homocystinuria	Optic atrophy, Abnormality of retinal pigmentation, Intracranial hemorrhage, Subcutaneous hemorrh...	ORPHA:394
Alstrom Syndrome	Alopecia, Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Cone/con...	OMIM:203800
Noonan Syndrome 4	Blue irides	OMIM:610733
Hepatoportal Sclerosis	Leukopenia, Prolonged prothrombin time, Anemia, Splenomegaly, Gastrointestinal hemorrhage, Hypers...	ORPHA:64743
Angelman Syndrome	Hypopigmentation of the skin, Iris hypopigmentation, Astigmatism, Keratoconus, Fair hair	ORPHA:72
Carney Complex, Type 1	Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair	OMIM:160980
Peroxisome Biogenesis Disorder 1A (Zellweger)	Opacification of the corneal stroma, Brushfield spots, Cataract, Pigmentary retinopathy	OMIM:214100
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Iris coloboma, Heterochromia iridis, Abnormal cho...	ORPHA:3205
Kasabach-Merritt Syndrome	Neutropenia, Hypertrichosis, Petechiae, Microangiopathic hemolytic anemia, Prolonged prothrombin ...	ORPHA:2330
Down Syndrome	Brushfield spots	OMIM:190685
Nail-Patella Syndrome	Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign	ORPHA:2614
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hyperconvex fingernails, Hypoplastic fingernail	ORPHA:192
Duane Retraction Syndrome	Hypopigmented skin patches, Patchy hypopigmentation of hair, Chorioretinal coloboma, Aniridia, Hy...	ORPHA:233
Tubulointerstitial Nephritis And Uveitis Syndrome	Reduced hematocrit, Abnormality of retinal pigmentation, Normocytic anemia, Normochromic anemia, ...	ORPHA:91500
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Bartter Syndrome, Type 2, Antenatal	Impaired platelet aggregation, Hyperaldosteronism	OMIM:241200
Vici Syndrome	Ocular albinism, Cutaneous anergy, Decreased circulating IgG level, Hypopigmentation of the fundu...	OMIM:242840
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Neutropenia, Decreased circulating antibody level, Anemia, S...	ORPHA:175
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Thick hair, Pigmentary retinopathy	ORPHA:502423
Myopathy, Mitochondrial, And Ataxia	Thick hair, Pigmentary retinopathy	OMIM:617675
Familial Dysautonomia	Heterochromia iridis, Abnormal pupil morphology, Corneal opacity, Corneal erosion	ORPHA:1764
Pseudohypoparathyroidism Type 1A	Elevated circulating parathyroid hormone level, Abnormal platelet function, Elevated calcitonin, ...	ORPHA:79443
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Pigmentary retinopathy	OMIM:612582
Cockayne Syndrome Type 1	Optic atrophy, Anemia, Hypermelanotic macule, Pigmentary retinopathy	ORPHA:90321
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Prader-Willi Syndrome	Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation, Hypopigmentation o...	OMIM:176270
Neurofibromatosis Type 1	Hypopigmented skin patches, Abnormality of retinal pigmentation, Chorioretinal coloboma, Generali...	ORPHA:636
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, White eyebrow	OMIM:609136
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	OMIM:609015
Aicardi Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Abnormality of skin p...	ORPHA:50
Koolen-De Vries Syndrome	Cataract, Iris hypopigmentation, Fair hair	OMIM:610443
Melas	Optic atrophy, Hypertrichosis, Anemia, Vitiligo, Pigmentary retinopathy	ORPHA:550
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Pearson Syndrome	Neutropenia, Hyperpigmentation of the skin, Bone marrow hypocellularity, Anemia, Splenomegaly, Re...	ORPHA:699
Acrodysostosis 1 With Or Without Hormone Resistance	Blue irides, Melanocytic nevus	OMIM:101800
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Prader-Willi Syndrome Due To Translocation	Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of the skin, Iris hypopigmentation...	ORPHA:177907
Nail-Patella Syndrome	Lester's sign, Microphakia, Antecubital pterygium, Cataract, Microcornea, Keratoconus	OMIM:161200
Autosomal Dominant Cerebellar Ataxia	Macular degeneration, Retinal degeneration, Pigmentary retinopathy	ORPHA:99
Syndromic Diarrhea	Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Brittle hair, Trichorrh...	ORPHA:84064
Mucopolysaccharidosis Type 3	Optic atrophy, Retinal degeneration, Hirsutism, Coarse hair, Rod-cone dystrophy, Splenomegaly, Th...	ORPHA:581
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:98754
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Chorioretinal lacunae	OMIM:618733
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:177901
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Optic disc pallor, Prolonged prothrombin time, Splenomegaly, Pigmentary retinopath...	ORPHA:404454
Cockayne Syndrome	Fine hair, Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degener...	ORPHA:191
Muenke Syndrome	Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule	ORPHA:53271
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Baraitser-Winter Cerebrofrontofacial Syndrome	Heterochromia iridis, Microcornea, Iris coloboma	ORPHA:2995
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Retinal degeneration, Acanthocytosis, Hyperpigmentation of the skin, Pigmentary re...	OMIM:234200
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Retinal degeneration, Abnormal hair morphology, Abnormality ...	ORPHA:79474
Prader-Willi-Like Syndrome	Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:398073
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Prolonged prothrombin time, Reduced natural killer cell activity, Anemia, Splenomegal...	OMIM:603553
Cockayne Syndrome A	Optic atrophy, Dry hair, Abnormality of skin pigmentation, Retinal pigment epithelial mottling, S...	OMIM:216400
Trisomy 18	Abnormality of retinal pigmentation, Abnormal toenail morphology, Iris coloboma	ORPHA:3380
Hemophagocytic Lymphohistiocytosis, Familial, 1	Leukopenia, Prolonged prothrombin time, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis	OMIM:267700
Hellp Syndrome	Cerebral hemorrhage, Microangiopathic hemolytic anemia, Prolonged prothrombin time, Decreased mea...	ORPHA:244242
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormality of retinal pigmentation, Retinal dysplasia, Abnormality o...	ORPHA:2556
Cockayne Syndrome B	Optic atrophy, Abnormal hair morphology, Dry hair, Hypoplasia of the iris, Abnormality of skin pi...	OMIM:133540
Cystinosis, Nephropathic	Retinal pigment epithelial mottling, Hypopigmentation of the skin, Splenomegaly, Retinopathy, Pig...

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