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 (620 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 number of dense granules, Albinism, Spontaneous, recurrent...	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	Prolonged bleeding time, Abnormal bleeding	OMIM:314560
Griscelli Syndrome, Type 3	Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft	OMIM:609227
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Tatsumi Factor Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:272650
Griscelli Syndrome Type 3	Hypopigmentation of hair, Iris hypopigmentation, Partial albinism	ORPHA:79478
Athrombia, Essential	Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe...	OMIM:209050
Thrombocytopenia 7	Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu...	OMIM:619130
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Glanzmann Thrombasthenia 2	Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ...	OMIM:619267
Dilution, Pigmentary	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:126070
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi...	OMIM:273800
Bleeding Disorder, Platelet-Type, 18	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru...	OMIM:615888
Pseudo-Von Willebrand Disease	Prolonged bleeding time	OMIM:177820
Bleeding Disorder, Platelet-Type, 24	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides	OMIM:103500
Waardenburg Syndrome, Type 2B	White forelock, Heterochromia iridis, Premature graying of hair	OMIM:600193
Waardenburg Syndrome, Type 2D	Heterochromia iridis	OMIM:608890
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Platelet Signal Processing Defect	Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel...	OMIM:173590
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Spontaneous, recurrent...	OMIM:614072
Hermansky-Pudlak Syndrome 7	Ocular albinism, Albinism, Post-partum hemorrhage, Impaired platelet aggregation, Bruising suscep...	OMIM:614076
Glanzmann Thrombasthenia	Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced...	ORPHA:849
Bleeding Disorder, Platelet-Type, 11	Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce...	OMIM:614201
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb...	OMIM:124900
Hermansky-Pudlak Syndrome 9	Leukopenia, Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus, Thromb...	OMIM:614171
Bleeding Disorder, Platelet-Type, 16	Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant plat...	OMIM:187800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl...	ORPHA:231393
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn...	OMIM:155100
Hermansky-Pudlak Syndrome 11	Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Bruising ...	OMIM:619172
Bleeding Disorder, Platelet-Type, 22	Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage	OMIM:618462
Bernard-Soulier Syndrome	Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Macrothrombocytopenia, Epistaxis, G...	OMIM:231200
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregati...	OMIM:614074
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr...	OMIM:187950
Anterior Segment Dysgenesis 8	Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro...	OMIM:617319
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism, Macular hypoplasia, Impaired ADP-induced...	OMIM:614075
Griscelli Syndrome, Type 1	Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ...	OMIM:214450
Bilateral Acute Depigmentation Of The Iris	Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio...	ORPHA:69736
Bleeding Disorder, Platelet-Type, 14	Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis	OMIM:614158
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter...	OMIM:619947
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets	OMIM:608404
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis...	OMIM:609821
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Bleeding Disorder, Platelet-Type, 21	Alopecia, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired platelet aggrega...	OMIM:617443
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Uncombable Hair Syndrome	Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology	ORPHA:1410
Nephronophthisis	Anemia, Abnormality of retinal pigmentation	ORPHA:655
Pupillary Membrane, Persistence Of	Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
Platelet Disorder, Undefined	Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation	OMIM:173420
Waardenburg Syndrome, Type 4B	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:613265
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
Von Willebrand Disease, Type 3	Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc...	OMIM:277480
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e...	ORPHA:42665
Factor V Deficiency	Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P...	OMIM:227400
Platelet Aggregation, Spontaneous	Spontaneous platelet aggregation, Abnormal platelet function	OMIM:173400
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Oculocutaneous Albinism, Type Viii	Hypopigmentation of hair, Hypopigmentation of the skin, Chorioretinal hypopigmentation, Iris tran...	OMIM:619165
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re...	OMIM:613830
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Bleeding Disorder, Platelet-Type, 17	Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept...	OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Bruising s...	OMIM:601399
Gray Platelet Syndrome	Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire...	OMIM:139090
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Epistaxis, I...	OMIM:314050
Leber Congenital Amaurosis 13	Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret...	OMIM:612712
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,...	OMIM:614009
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Choroideremia	Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig...	OMIM:303100
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Prothrombin Deficiency, Congenital	Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ...	OMIM:613679
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1852
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Hermansky-Pudlak Syndrome 8	Generalized hypopigmentation, Ocular albinism, Albinism, Iris transillumination defect, Impaired ...	OMIM:614077
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Slc35A1-Cdg	Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia...	ORPHA:238459
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal pigment epithelial atrophy, Hyporeflective spaces on macular OCT, Choriocapillaris atroph...	ORPHA:59181
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Choroideremia	ORPHA:99000
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Central Areolar Choroidal Dystrophy	Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin...	ORPHA:75377
Quebec Platelet Disorder	Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi...	OMIM:601709
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo...	OMIM:608051
Retinitis Pigmentosa 39	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:613809
Bardet-Biedl Syndrome 13	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:615990
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua...	OMIM:180210
Familial Drusen	Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ...	ORPHA:75376
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding	OMIM:188025
Bleeding Disorder, Platelet-Type, 12	Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag...	OMIM:605735
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia...	ORPHA:998
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Von Willebrand Disease, Type 1	Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax...	OMIM:193400
Ermine Phenotype	Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo	OMIM:227010
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell...	OMIM:300835
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Iridocorneal Endothelial Syndrome	Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante...	ORPHA:64734
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev...	ORPHA:2585
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Waardenburg Syndrome, Type 4A	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:277580
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia, Giant platelets, Prolonge...	ORPHA:182050
Griscelli Syndrome, Type 2	Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil...	OMIM:607624
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Hemophilia B	Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom...	ORPHA:98879
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Waardenburg Syndrome, Type 2A	Premature graying of hair, Albinism, White eyelashes, White eyebrow, Numerous pigmented freckles,...	OMIM:193510
Bothnia Retinal Dystrophy	Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ...	ORPHA:85128
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Retinal degeneration, Long eyebrows, Long eyelashes, Sparse hair...	OMIM:275400
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Retinitis Pigmentosa 57	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613582
Reticular Dystrophy Of Retinal Pigment Epithelium	Pigmentary retinopathy, Abnormality of retinal pigmentation	OMIM:179840
Immunodeficiency 81	Reduced natural killer cell activity, Petechiae, Impaired neutrophil chemotaxis, Reduced antigen-...	OMIM:619374
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red...	OMIM:608233
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Woolly Hair	Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ...	ORPHA:170
Storage Pool Platelet Disease	Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding, Acute leukemia	OMIM:185050
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Cone-Rod Dystrophy 5	Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy	OMIM:600977
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Spontaneous...	ORPHA:274
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos...	OMIM:203300
Oculocutaneous Albinism Type 3	Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig...	ORPHA:79433
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Neutropenia, Hemolytic anemia	OMIM:266130
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Oculocutaneous Albinism Type 4	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro...	ORPHA:79435
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Retinitis Pigmentosa 62	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614181
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Fine hair, Abnormality of retinal pigmentation, Abnormal fingernail morphol...	ORPHA:1433
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Hypotrichosis 8	Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h...	OMIM:278150
Oculocutaneous Albinism Type 1	Generalized hypopigmentation of hair, Generalized hypopigmentation, Iris transillumination defect...	ORPHA:352731
Hidrotic Ectodermal Dysplasia	Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ...	ORPHA:189
Hermansky-Pudlak Syndrome 4	Ocular albinism, Albinism, Abnormal bleeding, Bruising susceptibility, Absent platelet dense gran...	OMIM:614073
Retinitis Pigmentosa 54	Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 4	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:613731
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy	ORPHA:75373
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment...	OMIM:251270
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Bruising susceptibility, Abnormal optic nerve morphology, Abnormal neutr...	ORPHA:3226
Retinitis Pigmentosa 61	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:614180
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Retinitis Pigmentosa 76	Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen...	OMIM:617123
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ...	OMIM:203200
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Retinitis Pigmentosa 95	Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:620102
Essential Thrombocythemia	Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time, Acute leukemi...	ORPHA:3318
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Multiple cafe-au-lait spots	ORPHA:638
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:613801
Eem Syndrome	Sparse body hair, Retinopathy, Sparse scalp hair, Abnormality of retinal pigmentation, Absent eye...	ORPHA:1897
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentati...	ORPHA:54
Retinitis Pigmentosa 7	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood v...	OMIM:608133
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Albinism, Oculocutaneous, Type Vii	Albinism, Iris transillumination defect	OMIM:615179
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Premature graying of hair, Abnormal macular morphology, White eyelas...	ORPHA:897
Achromatopsia	Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl...	ORPHA:49382
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e...	ORPHA:41751
Piebald Trait	Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti...	OMIM:172800
Retinitis Pigmentosa 68	Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:615725
Stargardt Disease	Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi...	ORPHA:827
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Sitosterolemia 1	Stomatocytosis, Anemia, Abnormal bleeding, Reticulocytosis, Impaired platelet aggregation, Episod...	OMIM:210250
Griscelli Syndrome Type 1	Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair	ORPHA:79476
Retinitis Pigmentosa 90	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:619007
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina, Vitreoretinopathy	OMIM:172870
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract	OMIM:610092
Retinitis Pigmentosa 80	Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617781
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Retinitis Pigmentosa 9	Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Macular edema	OMIM:180104
Waardenburg Syndrome Type 2	Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ...	ORPHA:895
Retinitis Pigmentosa 17	Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:600852
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Congenital Toxoplasmosis	Thrombocytopenia, Anemia, Abnormality of retinal pigmentation	ORPHA:858
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Retinitis Pigmentosa 28	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:606068
Central Retinal Vein Occlusion	Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne...	ORPHA:411527
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Uncombable Hair Syndrome 3	Pili canaliculi, Curly hair, Uncombable hair, Brittle hair	OMIM:617252
Facial Spasm	Anisocoria	OMIM:134300
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Retinitis Pigmentosa 84	Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:618220
Congenital Factor Ii Deficiency	Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr...	ORPHA:325
Anterior Segment Dysgenesis 3	Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,...	OMIM:601631
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu...	OMIM:304020
Congenital Stationary Night Blindness	Retinal thinning, Congenital stationary night blindness with normal fundus, Abnormality of retina...	ORPHA:215
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular ...	OMIM:618697
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract	ORPHA:67048
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Piebald Trait-Neurologic Defects Syndrome	Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p...	ORPHA:2885
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Aplasia Cutis-Myopia Syndrome	Abnormal bleeding, Abnormality of retinal pigmentation	ORPHA:1117
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati...	ORPHA:79432
Leber Congenital Amaurosis 2	Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, Pigmentary retinopathy, ...	OMIM:204100
Ermine Phenotype	Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ...	ORPHA:999
Retinitis Pigmentosa 6	Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:312612
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Zika Virus Disease	Subcutaneous hemorrhage, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Opt...	ORPHA:448237
Leber Congenital Amaurosis 9	Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p...	OMIM:608553
Usher Syndrome, Type Iv	Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc...	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
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Retinitis Pigmentosa 13	Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm...	OMIM:600059
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, Abnormal calcium-p...	ORPHA:2196
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat...	OMIM:616108
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Wolfram Syndrome 2	Optic atrophy, Decreased circulating antibody level, Abnormal bleeding, Optic neuropathy, Impaire...	OMIM:604928
Leber Congenital Amaurosis 8	Choriocapillaris atrophy, Chorioretinal atrophy, Macular coloboma, Pigmentary retinopathy, Nummul...	OMIM:613835
Oculocutaneous Albinism Type 1B	Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ...	ORPHA:79434
Phenylketonuria	Fair hair, Cataract, Blue irides, Generalized hypopigmentation	OMIM:261600
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair, Abnormality of retinal pigmentation	ORPHA:1264
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Congenital Rubella Syndrome	Anemia, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Thrombocytopenia, Sp...	ORPHA:290
Retinitis Pigmentosa 1	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180100
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Congenital Disorder Of Glycosylation, Type Iif	Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Macrothrombocy...	OMIM:603585
Congenital Factor Vii Deficiency	Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble...	ORPHA:327
Leigh Syndrome With Leukodystrophy	Hypertrichosis, Anemia, Pigmentary retinopathy, Optic atrophy	ORPHA:255241
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Synophrys, Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular m...	ORPHA:1390
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Optic atrophy, Premature graying of hair, Aplasia/Hypoplasia of the...	ORPHA:33445
Factor X Deficiency	Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P...	OMIM:227600
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Waardenburg Syndrome, Type 2E	Cafe-au-lait spot, Premature graying of hair, Ocular albinism, White eyelashes, Iris hypopigmenta...	OMIM:611584
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Sjögren-Larsson Syndrome	Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmented ski...	ORPHA:3214
Peroxisomal Acyl-Coa Oxidase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy	OMIM:264470
Retinitis Pigmentosa 2	Rod-cone dystrophy, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Pigmentar...	OMIM:312600
Congenital Microcoria	Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo...	ORPHA:566
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Leber Congenital Amaurosis 1	Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:204000
Waardenburg Syndrome, Type 3	Premature graying of hair, Hypopigmented skin patches, White forelock, Heterochromia iridis, Blue...	OMIM:148820
Spinocerebellar Ataxia 7	Macular degeneration, Pigmentary retinopathy, Optic atrophy	OMIM:164500
Senior-Loken Syndrome	Retinal dystrophy, Abnormality of retinal pigmentation	ORPHA:3156
Chédiak-Higashi Syndrome	Iris hypopigmentation, Large clumps of pigment irregularly distributed along hair shaft, Spotty h...	ORPHA:167
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan...	OMIM:256710
Albinism-Deafness Syndrome	Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism	OMIM:300700
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Retinitis Pigmentosa	Hyperinsulinemia, Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular m...	ORPHA:791
Retinitis Pigmentosa 12	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:600105
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Congenital Factor X Deficiency	Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ...	ORPHA:328
Oculocutaneous Albinism	Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ...	ORPHA:55
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Iris coloboma, Abnormality of retinal pigmentation	ORPHA:1259
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Klippel-Trénaunay Syndrome	Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Microcytic anemia	ORPHA:90308
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu...	OMIM:604116
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Retinitis Pigmentosa 46	Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:612572
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Ramon Syndrome	Generalized hirsutism, Abnormality of retinal pigmentation	ORPHA:3019
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Jalili Syndrome	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme...	OMIM:217080
Oculocutaneous Albinism Type 1A	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ...	ORPHA:79431
Waardenburg Syndrome, Type 4C	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:613266
Albinism, Oculocutaneous, Type Ia	Ocular albinism, Albinism, Astigmatism, Hypopigmentation of hair, Blue irides, White hair, Absent...	OMIM:203100
Wiskott-Aldrich Syndrome	Hypoplasia of the thymus, Hematemesis, Prolonged bleeding time, Thrombocytopenia, Purpura, Bruisi...	ORPHA:906
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Joubert Syndrome 28	Optic disc pallor, Highly arched eyebrow, Pigmentary retinopathy	OMIM:617121
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Retinitis Pigmentosa 83	Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina...	OMIM:618173
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Griscelli Syndrome Type 2	Premature graying of hair, Petechiae, Iris hypopigmentation, Pancytopenia, Hypopigmentation of ha...	ORPHA:79477
Retinitis Pigmentosa 77	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:617304
Mgat2-Cdg	Decreased circulating antibody level, Long eyelashes, Abnormal bleeding, Impaired platelet aggreg...	ORPHA:79329
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M...	OMIM:145350
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn...	ORPHA:364055
Neurocutaneous Melanocytosis	Melanocytic nevus, Intracranial hemorrhage, Abnormality of retinal pigmentation, Generalized hype...	ORPHA:2481
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Wolfram Syndrome 1	Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Thrombocytopenia, Pigmentary retinopathy	OMIM:222300
Narp Syndrome	Retinal arteriolar tortuosity, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic dis...	ORPHA:644
Combined Deficiency Of Factor V And Factor Viii	Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc...	ORPHA:35909
Piebaldism	Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock...	ORPHA:2884
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Retinitis Pigmentosa 43	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613810
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re...	OMIM:605549
Cln3 Disease	Optic atrophy, Bull's eye maculopathy, Hirsutism, Increased circulating androgen concentration, V...	ORPHA:228346
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:300029
Chediak-Higashi Syndrome	Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini...	OMIM:214500
Autoerythrocyte Sensitization Syndrome	Intracranial hemorrhage, Bruising susceptibility, Autoimmune thrombocytopenia, Abnormal erythrocy...	ORPHA:324636
Retinitis Pigmentosa 51	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Laurence-Moon Syndrome	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Wiskott-Aldrich Syndrome	Eosinophilia, Decreased proportion of CD4-positive helper T cells, Prolonged bleeding time, Hemat...	OMIM:301000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Abnormality of retinal pigmentation	ORPHA:3085
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Retinitis Pigmentosa 25	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:602772
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume	OMIM:615193
Retinitis Pigmentosa 49	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613756
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o...	OMIM:193220
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Hypochromic anemia, Distichiasi...	OMIM:600462
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618195
Griscelli Syndrome	Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Decreased circulating antibod...	ORPHA:381
Mixed Connective Tissue Disease	Leukopenia, Alopecia, Hemolytic anemia, Purpura, Gastrointestinal hemorrhage, Prolonged bleeding ...	ORPHA:809
Juvenile Xanthogranuloma	Iritis, Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Uveitis	ORPHA:158000
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Frontofacionasal Dysplasia	Brushfield spots, Limbal dermoid, Microcornea, Iris coloboma, Cataract	ORPHA:1791
Riboflavin Transporter Deficiency	Iris hypopigmentation	ORPHA:97229
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Supernumerary nipple, Abnormality of retinal pigmentation	ORPHA:1173
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Persistent pupillary membrane, Alopecia	ORPHA:1067
Retinitis Pigmentosa 45	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:613767
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat...	ORPHA:3437
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of skin pigmentation	ORPHA:834
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens	ORPHA:85194
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy	ORPHA:100996
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Vici Syndrome	Hypopigmentation of the skin, Optic atrophy, Abnormal macular morphology, Decreased circulating I...	ORPHA:1493
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation	ORPHA:873
Anterior Segment Dysgenesis 6	Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m...	OMIM:617315
Retinitis Pigmentosa 14	Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opt...	OMIM:600132
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Retinitis Punctata Albescens	Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular...	ORPHA:52427
Oculocerebral Hypopigmentation Syndrome, Preus Type	Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Cataract, White hair	ORPHA:2720
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Waardenburg Syndrome Type 1	Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,...	ORPHA:894
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Retinal peau d'orange, Angioid streaks of the fundus, Abnormal bleeding, Epistaxis, Prolonged pro...	OMIM:610842
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pig...	ORPHA:5
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ...	OMIM:617547
Macs Syndrome	Alopecia, Sparse eyebrow, Bruising susceptibility, Prolonged bleeding time, Sparse hair	OMIM:613075
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Retinitis Pigmentosa 72	Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:616469
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Posterior Column Ataxia With Retinitis Pigmentosa	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:609033
Late-Onset Retinal Degeneration	Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t...	ORPHA:67042
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Cone-Rod Dystrophy 10	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, White forelock, Hirsutism, G...	ORPHA:742
Leigh Syndrome	Hypertrichosis, Pigmentary retinopathy, Optic atrophy	OMIM:256000
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Tonne-Kalscheuer Syndrome	Blue irides	OMIM:300978
Hoyeraal-Hreidarsson Syndrome	Anemia, Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Gener...	ORPHA:3322
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Sparse hair, Pigmentary retinopathy	OMIM:268020
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Acute Zonal Occult Outer Retinopathy	Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo...	ORPHA:284454
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Cafe-au-lait spot, Blue irides	ORPHA:3041
Cone-Rod Dystrophy 2	Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret...	OMIM:120970
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow, Splenomegaly	ORPHA:585
Retinitis Pigmentosa 66	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615233
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Usher Syndrome Type 2	Iris hypopigmentation, Cataract	ORPHA:231178
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation	ORPHA:2518
Enhanced S-Cone Syndrome	Retinoschisis, Pigmentary retinopathy, Vitreoretinopathy, Macular edema	OMIM:268100
Retinitis Pigmentosa 75	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617023
Waardenburg Syndrome, Type 1	Premature graying of hair, White eyelashes, White eyebrow, Hypoplastic iris stroma, White foreloc...	OMIM:193500
Refsum Disease	Nail dysplasia, Retinopathy, Splenomegaly, Abnormality of retinal pigmentation	ORPHA:773
Bardet-Biedl Syndrome 9	Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:615986
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Noonan Syndrome	Melanocytic nevus, Abnormal platelet function, Abnormal bleeding, Abnormal hair quantity, Coarse ...	ORPHA:648
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism, Bruising susceptibility, Epistaxis, Gingival bleeding	ORPHA:352723
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Cohen Syndrome	Leukopenia, Neutropenia, Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal dy...	OMIM:216550
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Joubert Syndrome 3	Retinal dystrophy, Highly arched eyebrow, Pigmentary retinopathy	OMIM:608629
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Cohen Syndrome	Abnormality of skin pigmentation, Neutropenia, Optic atrophy, Long eyelashes, Abnormality of reti...	ORPHA:193
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Mulibrey Nanism	Iris coloboma, Pigmentary retinopathy	OMIM:253250
Acquired Purpura Fulminans	Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Prolonged prothrombin time, Thromb...	ORPHA:49566
Ataxia-Telangiectasia	Premature graying of hair, Decreased circulating antibody level, Lymphopenia, Hypopigmentation of...	ORPHA:100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Alopecia, Alopecia universalis, Nail dystrophy, Perifoveal ring of hyperautofluorescenc...	OMIM:240300
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Hypopig...	ORPHA:2715
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypopigmented skin patches	ORPHA:1784
Zellweger Syndrome	Brushfield spots, Posterior embryotoxon, Abnormal chorioretinal morphology, Cataract, Corneal opa...	ORPHA:912
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Cataract, Opacification of the corneal stroma	OMIM:214110
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag...	ORPHA:335
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	ORPHA:216866
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Noonan Syndrome 13	Cafe-au-lait spot, Blue irides, Multiple lentigines	OMIM:619087
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Sparse hair	OMIM:614105
Oculocerebral Hypopigmentation Syndrome, Cross Type	Choroideremia, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair, Cataract, Cornea...	ORPHA:2719
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Fasting hyperinsulinemia, Prolonged prothrombin time, Hyperinsulinemic hy...	ORPHA:71212
Hermansky-Pudlak Syndrome	Abnormality of thrombocytes, Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Ir...	ORPHA:79430
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Thick hair, Optic atrophy, Long eyelashes, Abnormality of retinal pigmentatio...	ORPHA:505248
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Chromosome Xp11.3 Deletion Syndrome	Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy	OMIM:300578
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged...	OMIM:277450
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
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
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy	OMIM:530000
Aceruloplasminemia	Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation, Hypochromic micr...	ORPHA:48818
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Prolonged prothrombin time	OMIM:616559
Bardet-Biedl Syndrome 17	Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ...	OMIM:615994
Acquired Hypertrichosis Lanuginosa	Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair	ORPHA:2221
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Hypothalamic gonadotropin-releasing hormone deficienc...	ORPHA:2235
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Impaired neutrophil chemotaxis, Abnormal bleeding, Polycythemia, Hyperins...	ORPHA:2968
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color	ORPHA:1824
Proteus-Like Syndrome	Abnormal pupil morphology, Irregular hyperpigmentation, Limbal dermoid, Cataract, Heterochromia i...	ORPHA:2969
Relapsing Fever	Leukopenia, Anemia, Neutrophilia, Abnormal bleeding, Epistaxis, Prolonged prothrombin time, Leuko...	ORPHA:91547
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:601777
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Werner Syndrome	Sparse scalp hair, Pili torti, Premature graying of hair, Abnormality of retinal pigmentation, Wh...	ORPHA:902
Acquired Von Willebrand Syndrome	Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Intracranial hemorr...	ORPHA:99147
Abetalipoproteinemia	Anemia, Rod-cone dystrophy, Abnormal bleeding, Reticulocytosis, Abnormality of retinal pigmentati...	ORPHA:14
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea	ORPHA:284160
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Micro Syndrome	Optic atrophy, Generalized hirsutism, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Waardenburg Syndrome	Abnormality of skin pigmentation, Premature graying of hair, Hypopigmented skin patches, White fo...	ORPHA:3440
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Bone spicule pigmentation of the retina	ORPHA:88628
Maternal Uniparental Disomy Of Chromosome 4	Rod-cone dystrophy, Optic atrophy, Abnormal erythrocyte morphology, Pigmentary retinopathy, Acant...	ORPHA:96180
Mucopolysaccharidosis, Type Ii	Splenomegaly, Abnormality of retinal pigmentation, Hepatosplenomegaly, Papilledema, Hypertrichosis	OMIM:309900
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Generalized hirsutism, Pigmentary retinopathy	ORPHA:110
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Anemia, Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinopathy, Leukonychia, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:2526
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic atrophy, Optic disc pallor	OMIM:268315
Noonan Syndrome 4	Blue irides	OMIM:610733
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Prolo...	ORPHA:2330
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Anemia, Pigmentary retinopathy, Optic atrophy	OMIM:220110
Angelman Syndrome	Hypopigmentation of the skin, Fair hair, Iris hypopigmentation, Astigmatism, Keratoconus	ORPHA:72
Sturge-Weber Syndrome	Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochromia iridis, Co...	ORPHA:3205
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Neutropenia, Megaloblastic anemia, Pigmentary retinopathy	OMIM:277400
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe...	ORPHA:790
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Retinal thinning, Retinal atrophy, Macular atrophy, Abnormality of retin...	ORPHA:85167
Hepatoportal Sclerosis	Leukopenia, Anemia, Hypersplenism, Abnormal bleeding, Prolonged prothrombin time, Gastrointestina...	ORPHA:64743
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Optic atrophy, Retinal degeneration, Subdural hemorrhage, Thrombocytopenia,...	ORPHA:79282
Nail-Patella Syndrome	Antecubital pterygium, Primary congenital glaucoma, Abnormal iris pigmentation, Lester's sign	ORPHA:2614
Nijmegen Breakage Syndrome	Progressive vitiligo, Cafe-au-lait spot, T lymphocytopenia, B lymphocytopenia, Retinal pigment ep...	OMIM:251260
Leber Congenital Amaurosis 15	Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves...	OMIM:613843
Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Bull's eye maculopathy, ...	ORPHA:157850
Peroxisome Biogenesis Disorder 1A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Cataract, Opacification of the corneal stroma	OMIM:214100
Classic Homocystinuria	Sparse scalp hair, Optic atrophy, Subcutaneous hemorrhage, Intracranial hemorrhage, Abnormality o...	ORPHA:394
Duane Retraction Syndrome	Abnormal pupil morphology, Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central ...	ORPHA:233
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Melanocytic nevus, Generalized hypopigmentation, Abnormality of reti...	ORPHA:1969
Alstrom Syndrome	Alopecia, Hyperinsulinemia, Pigmentary retinopathy, Cone/cone-rod dystrophy	OMIM:203800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly	OMIM:618541
Carney Complex, Type 1	Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair	OMIM:160980
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Pigmentary retinopathy	OMIM:612582
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Bartter Syndrome, Type 2, Antenatal	Hyperaldosteronism, Impaired platelet aggregation	OMIM:241200
Familial Dysautonomia	Abnormal pupil morphology, Corneal opacity, Heterochromia iridis, Corneal erosion	ORPHA:1764
Coffin-Lowry Syndrome	Hypoplastic fingernail, Optic atrophy, Hyperconvex fingernails, Abnormality of retinal pigmentation	ORPHA:192
Koolen-De Vries Syndrome	Fair hair, Iris hypopigmentation, Cataract	OMIM:610443
Xeroderma Pigmentosum, Complementation Group B	Freckling, Pigmentary retinopathy, Optic atrophy	OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Posterior synechiae of the anterior chamber, Retinal dysplasia, Pigmentary retinopathy, Optic atr...	OMIM:613154
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Reduced hematocrit, Macular edema, Increased circulating antibody level, Nor...	ORPHA:91500
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Thick hair	ORPHA:502423
Cartilage-Hair Hypoplasia	Sparse eyebrow, Anemia, Decreased circulating antibody level, Abnormality of retinal pigmentation...	ORPHA:175
Pseudohypoparathyroidism Type 1A	Elevated circulating parathyroid hormone level, Abnormal platelet function, Reduced circulating p...	ORPHA:79443
Peroxisome Biogenesis Disorder 5A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Cataract, Opacification of the corneal stroma	OMIM:614866
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Thick hair	OMIM:617675
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp...	ORPHA:177907
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Cockayne Syndrome Type 1	Hypermelanotic macule, Anemia, Pigmentary retinopathy, Optic atrophy	ORPHA:90321
Nail-Patella Syndrome

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