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 (623 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		Gingival bleeding, Hypopigmentation of the skin, Abnormal bleeding, Bruising susceptibility, Spon...	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
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Athrombia, Essential	Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega...	OMIM:209050
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Glanzmann Thrombasthenia 2	Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ...	OMIM:619267
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
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
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I...	OMIM:618462
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time	OMIM:177820
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides	OMIM:103500
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,...	OMIM:619271
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Hermansky-Pudlak Syndrome 7	Epistaxis, Bruising susceptibility, Ocular albinism, Prolonged bleeding after dental extraction, ...	OMIM:614076
Platelet Signal Processing Defect	Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair...	OMIM:173590
Hermansky-Pudlak Syndrome 3	Gingival bleeding, Hypopigmentation of the skin, Abnormal bleeding, Bruising susceptibility, Spon...	OMIM:614072
Bleeding Disorder, Platelet-Type, 11	Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu...	OMIM:614201
Thrombocytopenia 9	Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombo...	OMIM:620478
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ...	OMIM:187800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M...	OMIM:124900
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnorm...	OMIM:614171
Bleeding Disorder, Platelet-Type, 25	Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta...	OMIM:620486
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet...	ORPHA:231393
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Abnormal bleedin...	OMIM:155100
Hermansky-Pudlak Syndrome 11	Gingival bleeding, Albinism, Epistaxis, Fair hair, Bruising susceptibility, Ocular albinism, Mela...	OMIM:619172
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy...	OMIM:614009
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Hermansky-Pudlak Syndrome 5	Albinism, Epistaxis, Bruising susceptibility, Ocular albinism, Impaired ADP-induced platelet aggr...	OMIM:614074
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Bleeding Disorder, Platelet-Type, 8	Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,...	OMIM:609821
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:608404
Bleeding Disorder, Platelet-Type, 15	Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega...	OMIM:615193
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Bleeding Disorder, Platelet-Type, 21	Alopecia, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaire...	OMIM:617443
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Glanzmann Thrombasthenia	Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi...	ORPHA:849
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Nephronophthisis	Anemia, Abnormality of retinal pigmentation	ORPHA:655
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Von Willebrand Disease, Type 3	Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge...	OMIM:277480
Factor V Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee...	OMIM:227400
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris tran...	OMIM:619165
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire...	OMIM:139090
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Choroideremia	Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Numm...	OMIM:303100
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p...	OMIM:601399
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d...	OMIM:153670
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from ...	OMIM:614077
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Slc35A1-Cdg	Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate...	ORPHA:238459
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Choroideremia	ORPHA:99000
Quebec Platelet Disorder	Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi...	OMIM:601709
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat...	ORPHA:75376
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Macular dystrophy, ...	OMIM:608051
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem...	OMIM:605735
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Von Willebrand Disease, Type 1	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ...	OMIM:193400
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Hermansky-Pudlak Syndrome 6	Epistaxis, Hypopigmentation of the skin, Bruising susceptibility, Ocular albinism, Partial albini...	OMIM:614075
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Leukocyt...	ORPHA:3318
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Myh9-Related Disease	Prolonged bleeding time, Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistax...	ORPHA:182050
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Reduced delayed hypersensitivit...	OMIM:607624
Progressive Hemifacial Atrophy	Heterochromia iridis, Irregular hyperpigmentation	ORPHA:1214
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Oliver-Mcfarlane Syndrome	Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo...	OMIM:275400
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Fair hair, Enlarged platelet dense granules, Ocular albinism, ...	OMIM:608233
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time	OMIM:185050
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Epistaxis, Hypopigmentation of the skin, Bruising susceptibility...	OMIM:203300
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ...	ORPHA:274
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Hemolytic anemia, Neutropenia	OMIM:266130
Hermansky-Pudlak Syndrome 4	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ocular albinism, Hypoplasia of the fovea, ...	OMIM:614073
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal...	ORPHA:352731
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen...	OMIM:251270
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Neurofibromatosis-Noonan Syndrome	Multiple cafe-au-lait spots, Prolonged bleeding time	ORPHA:638
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Beaten bronze macular sheen, Cone/cone-rod dystrophy, Bone ...	OMIM:614500
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Bruising susceptibi...	ORPHA:3226
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina...	OMIM:616959
Eem Syndrome	Sparse body hair, Retinopathy, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystr...	ORPHA:1897
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ...	ORPHA:54
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo...	ORPHA:897
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Wolfram Syndrome 2	Optic atrophy, Abnormal bleeding, Optic neuropathy, Decreased circulating antibody level, Impaire...	OMIM:604928
Blue Rubber Bleb Nevus	Microcytic anemia, Intestinal bleeding, Prolonged bleeding time	ORPHA:1059
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Sitosterolemia 1	Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol...	OMIM:210250
Griscelli Syndrome Type 1	Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair	ORPHA:79476
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
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
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Sparse hair	ORPHA:3363
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Facial Spasm	Anisocoria	OMIM:134300
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic...	ORPHA:903
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Congenital Toxoplasmosis	Anemia, Abnormality of retinal pigmentation, Thrombocytopenia	ORPHA:858
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Congenital Factor Ii Deficiency	Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ...	ORPHA:325
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Piebald Trait-Neurologic Defects Syndrome	Heterochromia iridis, Hypopigmentation of hair, Irregular hyperpigmentation, Hypopigmented skin p...	ORPHA:2885
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract	ORPHA:67048
Aplasia Cutis-Myopia Syndrome	Abnormal bleeding, Abnormality of retinal pigmentation	ORPHA:1117
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Zika Virus Disease	Optic disc hypoplasia, Retinal pigment epithelial mottling, Subcutaneous hemorrhage, Chorioretina...	ORPHA:448237
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormal circulating calcium-phosphate regulating hormone concentration, Macular coloboma, Abnorm...	ORPHA:2196
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Phenylketonuria	Fair hair, Cataract, Blue irides, Generalized hypopigmentation	OMIM:261600
Congenital Rubella Syndrome	Splenomegaly, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Thrombocytopen...	ORPHA:290
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Abnormality of retinal pigmentation, Uncombable hair	ORPHA:1264
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ...	ORPHA:1390
Congenital Disorder Of Glycosylation, Type Iif	Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopen...	OMIM:603585
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o...	ORPHA:33445
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu...	ORPHA:3214
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Hypoplasia of the iris, Premature graying of h...	OMIM:611584
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Sjögren-Larsson Syndrome	Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
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
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Chédiak-Higashi Syndrome	Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypopigmentat...	ORPHA:167
Heimler Syndrome 1	Leukonychia, Beau's lines, Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Iris coloboma, Abnormality of retinal pigmentation	ORPHA:1259
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Klippel-Trénaunay Syndrome	Microcytic anemia, Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding time	ORPHA:90308
Joubert Syndrome 28	Highly arched eyebrow, Pigmentary retinopathy, Optic disc pallor	OMIM:617121
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Ramon Syndrome	Generalized hirsutism, Abnormality of retinal pigmentation	ORPHA:3019
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia...	ORPHA:906
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi...	OMIM:203100
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Abno...	ORPHA:324636
Mgat2-Cdg	Decreased circulating IgG level, Abnormal bleeding, Long eyelashes, Hirsutism, Hypoplastic nipple...	ORPHA:79329
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior synechiae of the anterior chamber, Retinal pigment epithelial mottling, Abnormal macula...	ORPHA:364055
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Wiskott-Aldrich Syndrome	Gingival bleeding, Decreased proportion of CD8-positive T cells, Lymphopenia, Abnormal delayed hy...	OMIM:301000
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Bruising...	OMIM:214500
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A...	ORPHA:263479
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Abnormality of retinal pigmentation	ORPHA:3085
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer...	OMIM:600462
Obesity And Hypopigmentation	Red hair	OMIM:620195
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Dentinogenesis Imperfecta	Bruising susceptibility, Prolonged bleeding time	ORPHA:49042
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Brushfield spots, Iris coloboma	ORPHA:1791
Mixed Connective Tissue Disease	Alopecia, Gastrointestinal hemorrhage, Leukopenia, Splenomegaly, Purpura, Hemolytic anemia, Prolo...	ORPHA:809
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Iritis	ORPHA:158000
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Riboflavin Transporter Deficiency	Iris hypopigmentation	ORPHA:97229
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair	ORPHA:1067
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation	ORPHA:873
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of skin pigmentation	ORPHA:834
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks	ORPHA:100996
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens	ORPHA:85194
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Late-Onset Retinal Degeneration	Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab...	ORPHA:67042
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal arteriola...	OMIM:600132
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Cataract, Microcornea, Generalized hypopigmentation	OMIM:617306
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Vici Syndrome	Optic atrophy, Decreased circulating IgG level, Hypopigmentation of the skin, Abnormal macular mo...	ORPHA:1493
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy, Hypertrichosis	OMIM:256000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal m...	ORPHA:5
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, White hair, Ocular albinism, Generalized hypopigmentation	ORPHA:2720
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Abnormal bleeding, Angioid streaks of the fundus, Retinal peau d'orange, Prolonged pro...	OMIM:610842
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Macs Syndrome	Alopecia, Sparse eyebrow, Bruising susceptibility, Sparse hair, Prolonged bleeding time	OMIM:613075
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:609033
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Tonne-Kalscheuer Syndrome	Blue irides	OMIM:300978
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Prolidase Deficiency	Abnormal fingernail morphology, White forelock, Abnormality of retinal pigmentation, Splenomegaly...	ORPHA:742
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Sparse hair, Rod-cone dystrophy	OMIM:268020
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin...	ORPHA:381
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Gen...	ORPHA:3322
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Retinitis Pigmentosa	Optic atrophy, Hyperinsulinemia, Attenuation of retinal blood vessels, Abnormality of retinal pig...	ORPHA:791
Multiple Sulfatase Deficiency	Optic atrophy, Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Splenomegaly	ORPHA:585
Usher Syndrome Type 2	Iris hypopigmentation, Cataract	ORPHA:231178
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Cafe-au-lait spot, Blue irides	ORPHA:3041
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial...	OMIM:619649
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615986
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a...	OMIM:306900
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Osteogenesis Imperfecta, Type Xvi	Bruising susceptibility, Prolonged bleeding time	OMIM:616229
Waardenburg Syndrome, Type 1	Premature graying of hair, Partial albinism, White forelock, Heterochromia iridis, White eyebrow,...	OMIM:193500
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Iridodonesis, Iris transillumination defect, Corneal arcus	OMIM:249310
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Noonan Syndrome	Coarse hair, Abnormal bleeding, Juvenile myelomonocytic leukemia, Bruising susceptibility, Abnorm...	ORPHA:648
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Refsum Disease	Nail dysplasia, Retinopathy, Abnormality of retinal pigmentation, Splenomegaly	ORPHA:773
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Attenuated Chédiak-Higashi Syndrome	Gingival bleeding, Epistaxis, Bruising susceptibility, Ocular albinism, Generalized hypopigmentation	ORPHA:352723
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Cohen Syndrome	Optic atrophy, Leukopenia, Thick eyebrow, Bull's eye maculopathy, Chorioretinal dystrophy, Bone s...	OMIM:216550
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Cohen Syndrome	Optic atrophy, Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Low anterior h...	ORPHA:193
Ataxia-Telangiectasia	Premature graying of hair, Lymphopenia, Multiple cafe-au-lait spots, Hypopigmentation of hair, De...	ORPHA:100
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Pigmentary retinopathy, Vitiligo, Nail dystrophy, Asplenia, Decre...	OMIM:240300
Mulibrey Nanism	Pigmentary retinopathy, Iris coloboma	OMIM:253250
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypopigmented skin patches	ORPHA:1784
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypopig...	ORPHA:2715
Acquired Purpura Fulminans	Macular purpura, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intracranial ...	ORPHA:49566
Zellweger Syndrome	Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnormal chorioretinal morpho...	ORPHA:912
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ...	ORPHA:335
Noonan Syndrome 13	Multiple lentigines, Cafe-au-lait spot, Blue irides	OMIM:619087
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma	OMIM:214110
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration, Hypochromic micr...	ORPHA:48818
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Abno...	ORPHA:79430
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Hypopigmentatio...	ORPHA:2719
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Bone marrow hypocellularity, Decreased circulating IgG level, Hypertrichosis, Long...	ORPHA:505248
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hyperinsulinemic hypoglycemia, Prolonged prothrombin time, Fasting hyperi...	ORPHA:71212
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hyperinsulinemia, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hyperinsulinemia, Hypopigmentation of the skin	ORPHA:71526
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Noonan Syndrome 9	Sparse eyebrow, Prolonged prothrombin time, Curly hair	OMIM:616559
Relapsing Fever	Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, P...	ORPHA:91547
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color	ORPHA:1824
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, White forelock, Abnormality of retinal pigmentati...	ORPHA:902
Proteus-Like Syndrome	Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Heterochromia iridis, Limbal de...	ORPHA:2969
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy	OMIM:530000
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency...	ORPHA:2235
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Mucopolysaccharidosis, Type Ii	Hypertrichosis, Hepatosplenomegaly, Splenomegaly, Abnormality of retinal pigmentation, Papilledema	OMIM:309900
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Acquired Von Willebrand Syndrome	Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib...	ORPHA:99147
Abetalipoproteinemia	Abnormal bleeding, Hypopigmentation of the fundus, Acanthocytosis, Abnormality of retinal pigment...	ORPHA:14
Micro Syndrome	Generalized hirsutism, Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity	ORPHA:284160
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno...	ORPHA:3440
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Abnormal erythrocyte morphology, Acanthocytosis, Rod-cone ...	ORPHA:96180
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
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Anemia, Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Abnormal hair morphology, Leukonychia, Abnormalit...	ORPHA:2526
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Abnormal bleeding, Polycythemi...	ORPHA:2968
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Hypopigmentation of the skin, Fair hair, Astigmatism	ORPHA:72
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Noonan Syndrome 4	Blue irides	OMIM:610733
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,...	ORPHA:85167
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Petechiae, Neutro...	ORPHA:2330
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Sturge-Weber Syndrome	Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Iris coloboma, Co...	ORPHA:3205
Retinoblastoma	Hyphema, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobla...	ORPHA:790
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Anemia, Optic atrophy, Pigmentary retinopathy	OMIM:220110
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Acanthocytosis, Retinal flecks, Re...	ORPHA:157850
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Thromboc...	ORPHA:64743
Nijmegen Breakage Syndrome	Progressive vitiligo, Retinal pigment epithelial mottling, Autoimmune hemolytic anemia, Dysgammag...	OMIM:251260
Nail-Patella Syndrome	Antecubital pterygium, Primary congenital glaucoma, Abnormal iris pigmentation, Lester's sign	ORPHA:2614
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Subdural hemorrhage, ...	ORPHA:79282
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Abnormality of retinal pigme...	ORPHA:394
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma	OMIM:214100
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Frontal upsweep of hair	OMIM:612582
Familial Dysautonomia	Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity	ORPHA:1764
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Koolen-De Vries Syndrome	Iris hypopigmentation, Cataract, Fair hair	OMIM:610443
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly	OMIM:618541
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior syn...	ORPHA:91500
Bartter Syndrome, Type 2, Antenatal	Hyperaldosteronism, Impaired platelet aggregation	OMIM:241200
Coffin-Lowry Syndrome	Hyperconvex fingernails, Optic atrophy, Abnormality of retinal pigmentation, Hypoplastic fingernail	ORPHA:192
Cartilage-Hair Hypoplasia	Sparse eyebrow, Decreased circulating antibody level, Abnormality of retinal pigmentation, Neutro...	ORPHA:175
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Freckling	OMIM:610651
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Thick hair	ORPHA:502423
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
Duane Retraction Syndrome	Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Chorioretinal coloboma, Cen...	ORPHA:233
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Thick hair	OMIM:617675
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma	OMIM:614866
Cockayne Syndrome Type 1	Anemia, Optic atrophy, Pigmentary retinopathy, Hypermelanotic macule	ORPHA:90321
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Pseudohypoparathyroidism Type 1A

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