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Gene: Bloc1s5 MGI:2178598

Gene Summary

Name:

biogenesis of lysosomal organelles complex-1, subunit 5, muted

Synonyms:

1810074A19Rik, Muted, BLOC-1 subunit, mu

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal retina vasculature morphology	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	2.11×10^-05
preweaning lethality, incomplete penetrance	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal iris morphology	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	1.81×10^-07
abnormal seminal vesicle morphology	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal retina blood vessel morphology	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	3.77×10^-08
abnormal retina morphology	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	1.40×10^-05
increased monocyte cell number	Bloc1s5^em1(IMPC)Tcp	HET	Early adult	5.77×10^-05
abnormal skin morphology	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal skin coloration	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	1.37×10^-08
abnormal iris pigmentation	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	2.27×10^-08
abnormal coat/hair pigmentation	Bloc1s5^em1(IMPC)Tcp	HOM	Early adult	1.37×10^-08

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

Gross Morphology Embryo E18.5

Images

36 Images

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Eye Morphology

Images Slit Lamp

132 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Eye Morphology

Images Ophthalmoscopy

145 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Gross Pathology and Tissue Collection

Images

16 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Bloc1s5 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 Bloc1s5 (1 diseases)
Human diseases predicted to be associated with Bloc1s5 (892 diseases)

The table below shows human diseases associated to Bloc1s5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hermansky-Pudlak Syndrome 11		Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Redu...	OMIM:619172

The table below shows human diseases predicted to be associated to Bloc1s5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ...	OMIM:103500
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o...	OMIM:614072
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega...	OMIM:209050
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Hypop...	OMIM:614171
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i...	OMIM:155100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo...	ORPHA:231393
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi...	OMIM:614076
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal platelet granules, Albinism, Impa...	OMIM:614075
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Oliver-Mcfarlane Syndrome	Central heterochromia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to ...	OMIM:275400
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg...	OMIM:609821
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi...	OMIM:614074
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Redu...	OMIM:619172
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Griscelli Syndrome Type 1	Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation	ORPHA:79476
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi...	ORPHA:352731
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract	OMIM:300719
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H...	OMIM:607624
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men...	OMIM:617443
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su...	OMIM:601399
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Woolly Hair	Hypopigmentation of hair, Cataract, Slow-growing hair, Abnormal retinal morphology, Brittle hair,...	ORPHA:170
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Diamond-Blackfan Anemia 17	Anemia, Hyperpigmentation of the skin	OMIM:617409
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility...	OMIM:614009
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Incr...	ORPHA:182050
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto...	OMIM:153670
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Nephronophthisis	Abnormality of retinal pigmentation, Renal insufficiency, Anemia	ORPHA:655
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism	OMIM:606952
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ...	ORPHA:79414
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia	OMIM:610798
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigment...	ORPHA:177910
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip...	OMIM:614077
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Sea-Blue Histiocytosis	Abnormal bleeding, Hyperpigmentation of the skin, Splenomegaly, Thrombocytopenia, Sea-blue histio...	ORPHA:158029
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili...	OMIM:605735
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria	OMIM:236130
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed a...	OMIM:203300
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc...	ORPHA:274
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Albinism...	OMIM:608233
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Phenylketonuria	Fair hair, Generalized hypopigmentation, Cataract, Blue irides	OMIM:261600
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog...	ORPHA:891
Gemignani Syndrome	Hypoplasia of penis, Hypopigmented skin patches	ORPHA:2074
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Prolonged bleeding time, Cryptorchidism, Abnormal helix morpho...	ORPHA:638
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Proteinuria, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreas...	OMIM:603585
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur...	OMIM:613266
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, ...	OMIM:614082
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus	OMIM:300500
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Synophrys, Heterochrom...	ORPHA:1390
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I...	ORPHA:3226
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism	ORPHA:2786
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Vogt-Koyanagi-Harada Disease	Retinal detachment, Abnormal eyebrow morphology, Cataract, Sparse scalp hair, Poliosis, Abnormal ...	ORPHA:3437
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,...	ORPHA:3318
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos...	OMIM:210250
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Liberfarb Syndrome	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ...	OMIM:618889
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,...	ORPHA:251282
Waardenburg Syndrome, Type 1	Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur...	OMIM:193500
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair	OMIM:113750
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Hypopigmentation of the skin	OMIM:617294
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Alopecia, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Riboflavin Transporter Deficiency	Optic disc pallor, Abnormality of macular pigmentation, Hypogonadism, Iris hypopigmentation	ORPHA:97229
Eales Disease	Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic...	ORPHA:40923
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia, Torticollis	ORPHA:71518
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati...	ORPHA:79397
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:89838
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Spondylo-Ocular Syndrome	Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low po...	ORPHA:85194
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutro...	OMIM:266130
Wolfram Syndrome 2	Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Optic atrophy, Decreased circulating ant...	OMIM:604928
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Cryptorchidism, Blue irides, Red hair, Fair hair	OMIM:614613
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Macular telangiectasia, Hypermelanotic...	ORPHA:69125
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p...	ORPHA:2969
Tonne-Kalscheuer Syndrome	Hypospadias, Concave nail, Cryptorchidism, Blue irides, Fine hair, Small nail, Micropenis, Decrea...	OMIM:300978
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ...	OMIM:214500
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Deafness-Hypogonadism Syndrome	Abnormal spermatogenesis, Congenital stationary night blindness, Hypergonadotropic hypogonadism, ...	ORPHA:90646
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Ataxia, Chorea, Athetosis, Dystonia	ORPHA:382
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme...	ORPHA:381
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation	ORPHA:2720
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology	ORPHA:370091
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	External genital hypoplasia, Frontal balding, Early balding, Blue irides, Hypogonadism, Micropeni...	ORPHA:3041
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th...	ORPHA:324636
Edinburgh Malformation Syndrome	Brushfield spots, Synophrys, Low posterior hairline, Generalized hirsutism, Hirsutism	ORPHA:1895
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Abnormal circu...	ORPHA:2196
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypoplasia of penis, Hypospadias, Nephrolithiasis, Generalized hypopigmentation, Irregular hyperp...	ORPHA:1816
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Mgat2-Cdg	Abnormal bleeding, Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phy...	ORPHA:79329
Episodic Ataxia Type 4	Abnormal head movements	ORPHA:79136
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Transcobalamin Deficiency	Decreased circulating IgG level, Abnormality of chromosome stability, Pancytopenia, Methylmalonic...	ORPHA:859
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Thrombocytopenia, Anemia	ORPHA:858
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Hematuria, Internal hemo...	ORPHA:90308
Acrofrontofacionasal Dysostosis	Bifid scrotum, Hypospadias, Brushfield spots, Hypopigmented skin patches, Anonychia, Aplasia/Hypo...	ORPHA:1784
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Infantile Sialic Acid Storage Disease	Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Fair hair, Hypopigmentation of the skin	OMIM:269920
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Iris hypopigmentation	ORPHA:834
Acute Radiation Syndrome	Abnormal bleeding, Thrombocytopenia, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin,...	ORPHA:454831
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Ocular albinism, Albinism	OMIM:614073
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Hypopl...	OMIM:214110
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma...	ORPHA:79430
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
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
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Noonan Syndrome 13	Highly arched eyebrow, Cryptorchidism, Blue irides, Low posterior hairline, Multiple lentigines, ...	OMIM:619087
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chronic kidney disease, Stage 5 chronic k...	ORPHA:3156
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Hypospadias, Brushfield spots, Cryp...	ORPHA:912
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:241200
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect	OMIM:617306
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Nephropathy, Prolonged bleed...	OMIM:301000
Fragile X Syndrome	Macroorchidism, postpubertal, Abnormal head movements, Folate-dependent fragile site at Xq28, Mac...	OMIM:300624
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, Iris coloboma, A...	ORPHA:1791
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Zika Virus Disease	Optic disc hypoplasia, Subcutaneous hemorrhage, Macular atrophy, Retinal pigment epithelial mottl...	ORPHA:448237
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Cryptorchidism, Ocular albinism, Choroiderem...	ORPHA:2719
Wyburn-Mason Syndrome	Retinal vascular malformation, Iris hypopigmentation	ORPHA:53719
Vici Syndrome	Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Optic atrophy, Ureteral at...	ORPHA:1493
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Ataxia-Telangiectasia	Hypopigmentation of hair, Abnormality of chromosome stability, Ataxia, Tremor, Decreased circulat...	ORPHA:100
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Huntington Disease-Like 3	Abnormal head movements, Broad-based gait, Urinary incontinence, Chorea, Progressive gait ataxia,...	ORPHA:157946
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiation, Cafe-au-l...	OMIM:618541
Noonan Syndrome	Abnormal bleeding, Low-set, posteriorly rotated ears, Abnormal hair quantity, Aplasia of the semi...	ORPHA:648
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Macular degeneration, Generalized hyperpigmentation, Retinop...	ORPHA:816
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Aplasia Cutis-Myopia Syndrome	Abnormal bleeding, Abnormality of retinal pigmentation	ORPHA:1117
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Angelman Syndrome	Keratoconus, Optic disc pallor, Precocious puberty in females, Optic atrophy, Astigmatism, Fair h...	ORPHA:72
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements	OMIM:245348
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Alopecia, Splenomegaly, L...	ORPHA:809
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Micropenis, Retinal degeneration	ORPHA:3363
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Alopecia, Poliosis, Vitreous floaters, Vitritis, Retin...	ORPHA:79098
Huntington Disease-Like 1	Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Gait disturbance, Jerky head movements	ORPHA:157941
Congenital Rubella Syndrome	Splenomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, Anemia	ORPHA:290
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility, Hearing impairment	ORPHA:49042
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Optic atrophy, Pigme...	OMIM:222300
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, H...	ORPHA:791
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2251
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch...	OMIM:267750
Leber Congenital Amaurosis 1	Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria, Attenuation of reti...	OMIM:204000
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Progressive Supranuclear Palsy-Corticobasal Syndrome	Tremor, Somatic sensory dysfunction, Jerky head movements, Focal dystonia	ORPHA:240103
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental...	ORPHA:2119
Classic Mycosis Fungoides	Splenomegaly, Irregular hyperpigmentation, Abnormal lymphocyte morphology, Hypopigmented skin pat...	ORPHA:2584
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Ogden Syndrome	Abnormal head movements, Torticollis, Cryptorchidism, Fine hair, Shuffling gait, Low-set ears, Ma...	ORPHA:276432
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro...	ORPHA:98754
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1466
Macs Syndrome	Prolonged bleeding time, Alopecia, Sparse eyebrow, Cryptorchidism, Urethral stenosis, Sparse hair...	OMIM:613075
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology	ORPHA:1617
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Spotty hyperpigmentation, Generalized hypopigmentation, Hyperpigmentation of the skin, Generalize...	ORPHA:158681
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro...	ORPHA:98793
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor...	ORPHA:233
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro...	ORPHA:177904
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro...	ORPHA:177901
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Macular degeneration, Optic atrophy	OMIM:164500
Prader-Willi Syndrome	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro...	OMIM:176270
Noonan Syndrome 4	Curly hair, Sparse eyebrow, Cryptorchidism, Blue irides, High anterior hairline	OMIM:610733
Juvenile Xanthogranuloma	Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Jeavons Syndrome	Abnormal head movements	ORPHA:139431
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Epistaxis, Angioid streaks of the fundus, Prolonged prothrombin time, Retinal ...	OMIM:610842
Bloom Syndrome	Decreased circulating IgG level, Chromosome breakage, Abnormality of chromosome stability, Elevat...	OMIM:210900
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin	ORPHA:261519
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Pseudohypoparathyroidism Type 1A	Reduced circulating prolactin concentration, Sensorineural hearing impairment, Elevated circulati...	ORPHA:79443
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Focal Facial Dermal Dysplasia Type I	Spotty hyperpigmentation, Spotty hypopigmentation	ORPHA:79133
Intermediate Uveitis	Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate...	ORPHA:279914
Osteogenesis Imperfecta, Type Xvi	Conductive hearing impairment, Prolonged bleeding time, Bruising susceptibility, Hearing impairment	OMIM:616229
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Blue irides, Optic atrophy, Melanocytic nevus, Hypogonadism, Decreased growth hor...	OMIM:101800
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Iris hypopigmentation	ORPHA:284160
Revesz Syndrome	Leukocoria, Fine, reticulate skin pigmentation, Nail pits, Fine hair, Exudative retinopathy, Nail...	OMIM:268130
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin	ORPHA:261304
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches	ORPHA:3239
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Pigmentary retinopath...	OMIM:214100
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Pi...	OMIM:614866
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Obesity And Hypopigmentation	Red hair	OMIM:620195
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia	OMIM:600151
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corne...	ORPHA:636
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Cln3 Disease	Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circulating androgen con...	ORPHA:228346
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Laurence-Moon Syndrome	Pigmentary retinopathy, Micropenis, Chorioretinal atrophy	OMIM:245800
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Porphyria Variegata	Neurogenic bladder, Hyperpigmentation of the skin, Chronic kidney disease, Porphyrinuria, Increas...	ORPHA:79473
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Abnormality of the subungual region, Internal hemor...	ORPHA:335
Jeune Syndrome	Abnormality of retinal pigmentation, Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin	OMIM:601957
Relapsing Fever	Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Hematuria, Leukopenia...	ORPHA:91547
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Fanconi Anemia, Complementation Group A	Pancytopenia, Ectopic kidney, Thrombocytopenia, Chromosomal breakage induced by crosslinking agen...	OMIM:227650
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test...	OMIM:604292
Leukocyte Adhesion Deficiency	Abnormal bleeding, Acute myeloid leukemia, Recurrent urinary tract infections, Glomerulonephritis...	ORPHA:2968
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Familial Dysautonomia	Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis	ORPHA:1764
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinitis Pigmentosa 46	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:612572
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test...	OMIM:129900
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Optic disc coloboma, Low posterior hairline, Microcornea, Retinoschisis, H...	ORPHA:2995
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti...	ORPHA:177907
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Agammaglobulinemia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:47
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin, Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Multiple lentigines, Pheoch...	OMIM:160980
Vici Syndrome	Decreased circulating IgG level, Hypopigmentation of hair, Macular atrophy, Albinism, Decreased c...	OMIM:242840
Acquired Purpura Fulminans	Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb...	ORPHA:49566
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Micropenis	ORPHA:370968
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Hydronephrosis	ORPHA:873
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Functional abnormality of the bladder, Yellow/white lesions of the retina...	ORPHA:100996
Localized Epidermolysis Bullosa Simplex	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Thromboc...	ORPHA:3322
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hyperinsulinemia	ORPHA:3085
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Menkes Disease	Intracranial hemorrhage, Hypopigmentation of the skin	OMIM:309400
Nail-Patella Syndrome	Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Fingernail dyspla...	ORPHA:2614
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Koolen-De Vries Syndrome	Cataract, Abnormality of hair texture, Cryptorchidism, Fair hair, Iris hypopigmentation	OMIM:610443
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic...	OMIM:600462
Joubert Syndrome 28	Pigmentary retinopathy, Optic disc pallor	OMIM:617121
Sandifer Syndrome	Hematemesis, Abnormal head movements, Torticollis, Anemia	ORPHA:71272
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hyperpigmentation of the skin, Splenomegaly, Red urine, Hypopigmentation of the...	OMIM:263700
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Renal insufficiency, Proteinuria, Abnormal retinal vascular ...	ORPHA:2715
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Dystonia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Prolonged...	OMIM:616271
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brittle hair, Highly ...	OMIM:619539
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Ect...	ORPHA:42775
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr...	ORPHA:99147
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Urinary incontinence, Optic atrophy, Pigmentary retinopa...	OMIM:609033
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady gait, ...	OMIM:254900
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Generalized h...	ORPHA:2221
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst	OMIM:605231
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas...	ORPHA:398079
Congenital Erythropoietic Porphyria	Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Anisocytosis, Thrombocytopenia, Splenomegal...	ORPHA:79277
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Dowling-Degos Disease	Inguinal freckling, Mixed hypo- and hyperpigmentation of the skin, Penile freckling, Hypermelanot...	ORPHA:79145
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hyperpigmentation of the skin, Depigmentation/hyperpigmentation of skin, Generalized reticulate b...	ORPHA:79396
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Naegeli-Franceschetti-Jadassohn Syndrome	Reticulated skin pigmentation, Hyperpigmentation in sun-exposed areas, Hypopigmentation of the sk...	ORPHA:69087
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Slc35A2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Hypopigmentation of the skin, Tra...	ORPHA:356961
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Cryptorchidism, Hypopigmented skin patches, White forelock, Heter...	OMIM:609136
Porphyria Cutanea Tarda	Abnormal erythrocyte enzyme level, Stage 5 chronic kidney disease, Porphyrinuria, Increased urina...	ORPHA:101330
Squalene Synthase Deficiency	Bilateral cryptorchidism, Optic nerve hypoplasia, Hypospadias, Abnormality of hair pigmentation	OMIM:618156
Lichen Planus Pemphigoides	Hypopigmented streaks	ORPHA:254478
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Pancytopenia, Bone marrow hypocellularity	OMIM:613988
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,...	OMIM:612925
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Hermansky-Pudlak Syndrome 10	Ocular albinism, Albinism	OMIM:617050
Bardet-Biedl Syndrome 9	Renal insufficiency, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degener...	OMIM:615986
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag...	OMIM:615994
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Polycystic kidney dysplasia, Hyperpigmentation of the skin	ORPHA:35125
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Hypopigmentation of the skin, Homocystinuria	OMIM:236200
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Ataxia, Proteinuria, Tremor, Renal cyst, Dysmetria, Nephrotic sy...	OMIM:212065
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem...	OMIM:612926
Crouzon Syndrome	Optic atrophy, Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Nail-Patella Syndrome	Keratoconus, Ridged nail, Cataract, Concave nail, Antecubital pterygium, Microcornea, Microphakia...	OMIM:161200
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Syndromic Diarrhea	Lymphopenia, Hypopigmentation of hair, Thrombocytosis, Increased mean platelet volume, Splenomega...	ORPHA:84064
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Proximal tubulopathy, Polyuria, Mottled pigmentation of photoexposed areas	OMIM:560000
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the skin, Abnormality of the sp...	ORPHA:79456
Focal Facial Dermal Dysplasia Type Iii	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:1807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Micropenis	OMIM:613156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem...	OMIM:612924
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le...	ORPHA:64743
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo...	ORPHA:244242
Short Syndrome	Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir...	ORPHA:3163
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Abnormality iris morphology, Small nail	ORPHA:250999
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches	ORPHA:626
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Pontocerebellar Hypoplasia, Type 7	Micropenis, Optic atrophy, Hypopigmentation of the skin	OMIM:614969
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,...	ORPHA:436271
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Hepatoerythropoietic Porphyria	Abnormal bleeding, Hemolytic anemia, Splenomegaly, Red-brown urine, Red urine, Erythroid hyperpla...	ORPHA:95159
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Hypopigmentation of the skin, Horseshoe kidney	OMIM:163200
Refsum Disease	Splenomegaly, Abnormality of retinal pigmentation, Renal insufficiency, Retinopathy	ORPHA:773
Noonan Syndrome 9	Curly hair, Hydroureter, Sparse eyebrow, Cryptorchidism, Prolonged prothrombin time	OMIM:616559
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Decreased circulating IgG l...	ORPHA:125
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Mismatch Repair Cancer Syndrome 1	Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin, Leukemia	OMIM:276300
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration	ORPHA:79264
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Fasting hyperinsulinemia, Pigmentary retinopathy, Prolonged prothrombin ti...	ORPHA:71212
Trichohepatoenteric Syndrome 1	Thrombocytosis, Hypospadias, Increased mean platelet volume, Splenomegaly, Decreased circulating ...	OMIM:222470
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Hypopigmentation of hair	ORPHA:70472
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto...	ORPHA:505248
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Kearns-Sayre Syndrome	Renal tubular acidosis, Pigmentary retinopathy, Sideroblastic anemia, Renal Fanconi syndrome	OMIM:530000
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Hartnup Disease	Abnormal urinary color, Irregular hyperpigmentation, Hypopigmented skin patches, Neutral hyperami...	ORPHA:2116
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cafe-au-lait spot, Hypospadias, Hypopigmented skin patches, Decreased circulating IgA level	ORPHA:457485
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,...	OMIM:220110
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara...	ORPHA:744
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptor...	ORPHA:398069
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Decreased circulating parathyroid hormone level, Asplenia, Nephrocalcinosis, Pigmentary retinopat...	OMIM:240300
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin, Optic neuropathy	OMIM:620237
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Retinal pigment epithelial mottling, Progressi...	OMIM:251260
Mosaic Trisomy 8	Vesicoureteral reflux, Hypopigmentation of the skin, Hypopigmented skin patches, Hydronephrosis	ORPHA:96061
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Decreased circulating IgA level, Nephrocalcinosis, Decreased circulat...	ORPHA:369837
Cystinosis, Nephropathic	Hypopigmentation of hair, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenome...	OMIM:219800
Thrombocytopenia 1	Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate...	OMIM:313900
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur...	OMIM:614105
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Sensorineural hearing...	OMIM:301050
Tetragametic Chimerism	Blood group antigen abnormality, Micropenis, Hypopigmented skin patches, Perineal hypospadias	ORPHA:199310
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Multiple Sulfatase Deficiency	Splenomegaly, Abnormality of retinal pigmentation, Mucopolysacchariduria, Optic atrophy	ORPHA:585
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Stage 5 chronic kidney...	OMIM:268315
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Hypochromic microcytic anemia, Macular de...	ORPHA:48818
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Pigmentary retinopathy	ORPHA:3208
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Collagenoma, Familial Cutaneous	Iris atrophy, Primary testicular failure, Congenital posterior occipital alopecia	OMIM:115250
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary re...	ORPHA:96180
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	ORPHA:216866
Spondyloenchondrodysplasia With Immune Dysregulation	Purpura, Hypermelanotic macule, Autoimmune thrombocytopenia, Hypopigmented skin patches on arms, ...	OMIM:607944
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Oculodentodigital Dysplasia	Curly hair, Cataract, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Optic atro...	ORPHA:2710
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Nephrotic syndrome,...	OMIM:251300
Abetalipoproteinemia	Abnormal bleeding, Abnormality of retinal pigmentation, Reticulocytosis, Acanthocytosis, Rod-cone...	ORPHA:14
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Macular coloboma, Megaloblastic anemia, Hemolytic-uremic syndrome...	ORPHA:79282
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Aplasia/Hypopl...	ORPHA:2714
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Optic atrophy, Hyperpigmentation of the skin	OMIM:231550
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Rothmund-Thomson Syndrome	Aplastic anemia, Reticular hyperpigmentation, Neutropenia, Leukemia, Hypopigmentation of the skin...	ORPHA:2909
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath...	ORPHA:2330
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Sterile pyuria, Increased circulating IgG level,...	ORPHA:91500
Lichen Planopilaris	Hypopigmented skin patches	ORPHA:525
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Unilateral Ocular Duplication	Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Optic atrophy, Retinal coloboma, Hydron...	ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Micropenis, Spotty hypopigmentation, Horseshoe kidney	OMIM:300860
Autoimmune Polyendocrinopathy Type 2	Hypopigmented skin patches	ORPHA:3143
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypoplasia of penis, Hypopigmented skin patches	ORPHA:1295
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Ataxia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Hepat...	OMIM:603553
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Hyperpigmentation of the skin, Neutropenia, Leukemia, Hypopigmentation of the sk...	ORPHA:221008
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Alopecia, Ataxia, Iron deficiency anemia, Prolonged prothrombin time, Thromboc...	OMIM:212750
Trisomy 8P	Cryptorchidism, Annular pancreas, Low posterior hairline, Astigmatism, Aplasia/Hypoplasia of the ...	ORPHA:264450
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocy...	OMIM:267700
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Splenomegal...	OMIM:309900
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia, Cerebellar hemorrhage, Dicarboxylic aciduria, Prolonged prothrombin time	ORPHA:99901
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Abnormality of skin ...	ORPHA:193
Childhood Absence Epilepsy	Jerky head movements	ORPHA:64280
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Prolonged prothrombin time...	OMIM:613070
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Hypopigmented skin patches	ORPHA:2115
Dyskeratosis Congenita	Hypermelanotic macule, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, White hair, Ur...	ORPHA:1775
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Prolonged prothrombin time, Extramedullary hematopoiesis, Renal cyst	ORPHA:79303
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Bardet-Biedl Syndrome	Pigmentary retinopathy, Hypoplasia of penis, Nephrotic syndrome, Multicystic kidney dysplasia	ORPHA:110
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Hyperpigmentation of the skin, Neutropenia, Leukemia, Hypopigmentation of the sk...	ORPHA:221016
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Eosinophilia, Hypopigmente...	ORPHA:183
Hereditary Bullous Dystrophy, Macular Type	Spotty hypopigmentation, Hyperpigmentation of the skin	ORPHA:1867
Short Stature With Microcephaly And Distinctive Facies	Spotty hyperpigmentation, Anisopoikilocytosis, Spotty hypopigmentation, Anemia	OMIM:615789
Curry-Jones Syndrome	Optic disc coloboma, Hypopigmented skin patches	ORPHA:1553
Prolidase Deficiency	Splenomegaly, Abnormality of retinal pigmentation, White forelock	ORPHA:742
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Abnormal pinna morphology, Hypospadias, Partial abs...	ORPHA:79324
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Ruvalcaba Syndrome	Hematuria, Hypopigmented skin patches	ORPHA:3121
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul...	ORPHA:247691
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Ataxia, Leukocytosis, Leukopenia, Prolonged prothrombin time, 3-Methylglutaric aciduri...	ORPHA:20
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hypopigmented skin patches	ORPHA:53715
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Pigmentary retinopathy, Rod-cone dystroph...	ORPHA:2235
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro...	ORPHA:157850
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism	OMIM:618727
Trisomy 9P	Hypoplastic toenails, Abnormal pupil morphology, Fingernail dysplasia, Hypoplastic fingernail	ORPHA:236
Pearson Syndrome	Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Thrombocytopenia, Splenomegaly, ...	ORPHA:699
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma	OMIM:180200
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy, A...	ORPHA:90321
Shwachman-Diamond Syndrome 2	Normocytic anemia, Prolonged prothrombin time, Low-set ears, Neutropenia, Thrombocytopenia	OMIM:617941
Prader-Willi Syndrome	Decreased circulating gonadotropin concentration, Hypopigmentation of hair, Hypopigmentation of t...	ORPHA:739
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashes, Small nail	OMIM:201180
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time, Ataxia	ORPHA:95428
Sialuria	Prolonged prothrombin time, Low-set ears, Hepatosplenomegaly	ORPHA:3166
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Retinal vascular proliferati...	ORPHA:464
Monosomy 13Q34	Posteriorly rotated ears, Epistaxis, Fetal pyelectasis, Abnormal earlobe morphology, Hematochezia...	ORPHA:96168
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Splenomegaly, Prolonged prothrombin time, Dysdiadochokinesis, Gait disturbance, Difficu...	ORPHA:309854
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Penoscrotal hypospadias, Unilateral cryptorchidism, Cr...	OMIM:618280
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasia, General...	OMIM:619321
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormality of chromosome stability, Decreased circulating a...	ORPHA:175
Degcags Syndrome	Hypopigmentation of hair, Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Abnormal rena...	OMIM:619488
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi...	OMIM:180500
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Pigmentary retinopathy, Neutropenia, Vesicour...	OMIM:618460
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	OMIM:609734
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Anemia	ORPHA:2637
Neuhauser Syndrome	Hypoplasia of the iris, Iridodonesis, Megalocornea, Low anterior hairline	OMIM:249310
Williams Syndrome	Hypoplasia of penis, Flat cornea, Corneal opacity, Cataract, Hypogonadotropic hypogonadism, Abnor...	ORPHA:904
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho...	ORPHA:2479
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Retinitis Pigmentosa 74	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Cutis Marmorata Telangiectatica Congenita	Multiple cafe-au-lait spots, Displacement of the urethral meatus, Retinal detachment, Leukocoria	ORPHA:1556
Alstrom Syndrome	Cone/cone-rod dystrophy, Renal insufficiency, Hyperinsulinemia, Pigmentary retinopathy, Tubuloint...	OMIM:203800
Melas	Proteinuria, Optic atrophy, Pigmentary retinopathy, Focal segmental glomerulosclerosis, Proximal ...	ORPHA:550
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Hypospadias, Abnormality of hair texture, Cryptorchidism	ORPHA:96169
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op...	ORPHA:649
Sarcoidosis	Hemolytic anemia, Renal insufficiency, Eosinophilia, Thrombocytopenia, Increased T cell count, Ne...	ORPHA:797
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Mucopolysacchariduria, Hypopigmentation of the skin, Enlarged kidney	OMIM:252500
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Melena, Nephrocalcinosis, Prolong...	OMIM:276700
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Intraventricular hemorrhage, Optic atrophy, Cafe-au-lait spot, Vesicoureteral reflux...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Intraventricular hemorrhage, Optic atrophy, Cafe-au-lait spot, Vesicoureteral reflux...	ORPHA:363958
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Hydroureter, Hyp...	ORPHA:84
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae, Long eyel...	OMIM:615877
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Pigmentary retinopathy, Optic atrophy, Optic disc pallor	OMIM:617282
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Hepatosplenomegaly	OMIM:301066
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Retinal pigment epithelial mottling, Multiple ren...	OMIM:618733
Oculocerebrorenal Syndrome Of Lowe	Renal insufficiency, Proteinuria, Chorioretinal dysplasia, Thrombocytopenia, Proximal renal tubul...	ORPHA:534
Gapo Syndrome	Nephrolithiasis, Optic atrophy, Hypopigmented skin patches	ORPHA:2067
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Classic Homocystinuria	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Retinal detachment, Optic atrop...	ORPHA:394
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches	ORPHA:1647
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time, Sensorineural hearing impairment	OMIM:614300
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Infantile Liver Failure Syndrome 3	Splenomegaly, Prolonged prothrombin time	OMIM:618641
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:192
Infantile Krabbe Disease	Cherry red spot of the macula, Optic atrophy, Hypopigmented skin patches	ORPHA:206436
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Hypospadias, Chorioretinal dyspla...	ORPHA:2556
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Urinary incontinence, Acanthocytosis, Optic atrophy, Pigmentary re...	OMIM:234200
Classical Ehlers-Danlos Syndrome	Ecchymosis, Bladder diverticulum, Prolonged bleeding time, Bruising susceptibility	ORPHA:287
Aicardi Syndrome	Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Myoglobinuria	OMIM:609015
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Inability to walk, Chorea, Splenomegaly, Generalized aminoaciduria, Athetosis, Prolonged prothrom...	ORPHA:404454
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time, 3-Methylglutaconic aciduria, Sensorineural hearing impairment	OMIM:618329
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Episodic ataxia, Prolonged prothrombin time, Oroticaciduria, Ataxia	OMIM:311250
Cockayne Syndrome	Abnormality of retinal pigmentation, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar...	ORPHA:191
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Retinal arteriolar tortuosity, Blue irides, Premature graying of h...	OMIM:194050
Localized Scleroderma	Hypopigmented skin patches, Hyperpigmentation of the skin, Vitiligo	ORPHA:90289
Down Syndrome	Brushfield spots	OMIM:190685
Facial Spasm	Anisocoria	OMIM:134300
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Hyperpigmentation of the skin, Dysuria, Renal tubular epithelial necro...	ORPHA:95455
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Splenomegaly, Prolonged prothrombin time	OMIM:613812
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Alagille Syndrome	Keratoconus, Cryptorchidism, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Eec Syndrome	Hypospadias, Urethral atresia, Hypoplasia of the thymus, Vesicoureteral reflux, Generalized hypop...	ORPHA:1896
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Hardikar Syndrome	Renal insufficiency, Hydroureter, Decreased serum insulin-like growth factor 1, Hematemesis, Hype...	OMIM:301068
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypospadias, Melanocytic nevus, Abnormality of skin pigmentation, Hematuria, Chorioretinal colobo...	OMIM:619475
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microcytic anemia, Moderate albuminuria, Thrombocytopen...	OMIM:619525
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Ocular a...	ORPHA:1606
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Optic disc pallor	ORPHA:502423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin, Horseshoe kidney	ORPHA:1724
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypospadias, Abnormality of thrombocytes, Impaired T cell function, ...	ORPHA:567
Hereditary Acrokeratotic Poikiloderma	Abnormal preputium morphology, Abnormality of the urethra, Hypopigmented skin patches, Gingival b...	ORPHA:2907
Cockayne Syndrome A	Renal insufficiency, Retinal atrophy, Proteinuria, Retinal pigment epithelial mottling, Splenomeg...	OMIM:216400
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Decreased serum insulin-like growth factor 1, Prolonged prothrombin time,...	OMIM:614921
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time, Abnormality of hair texture	ORPHA:88618
Marburg Hemorrhagic Fever	Abnormal bleeding, Reticulocytosis, Renal insufficiency, Lymphopenia, Excessive bleeding after a ...	ORPHA:99826
Focal Dermal Hypoplasia	Ureteral duplication, Linear hyperpigmentation, Optic atrophy, Reticular hyperpigmentation, Horse...	OMIM:305600
Mitochondrial Dna-Associated Leigh Syndrome	Abnormality of Krebs cycle metabolism, Optic atrophy, Lacticaciduria, Pigmentary retinopathy, Rod...	ORPHA:255210
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Micropenis	OMIM:614230
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Yellow Fever	Abnormal bleeding, Renal insufficiency, Anuria, Neutrophilia, Excessive bleeding after a venipunc...	ORPHA:99829
Xeroderma Pigmentosum	Hypermelanotic macule, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Aminoaciduri...	ORPHA:910
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ...	OMIM:209900
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Increased urinary glycerol, Ketonuria, Hepatosple...	ORPHA:247598
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Hypopigmentation of hair, Cataract, Hypospadias, Sclerocornea, Abnormal eyel...	ORPHA:818
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata...	OMIM:175780
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Trisomy 18	Abnormality of retinal pigmentation, Hydronephrosis	ORPHA:3380
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Splenomegal...	ORPHA:217085
Mucopolysaccharidosis Type 3	Heparan sulfate excretion in urine, Splenomegaly, Optic atrophy, Pigmentary retinopathy, Mucopoly...	ORPHA:581
Systemic Sclerosis	Renal insufficiency, Proteinuria, Glomerulonephritis, Chronic kidney disease, Spotty hypopigmenta...	ORPHA:90291
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Splenomegal...	ORPHA:217093
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Splenomegaly, Optic...	ORPHA:580
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Renal tubular dysfunction, Pigmentary retinopathy, Aminoaciduria, Renal Fancon...	ORPHA:411629
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time, Aminoaciduria	OMIM:619055
Papillon-Lefèvre Syndrome	Hypopigmented skin patches	ORPHA:678
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair, Shawl scrotum	ORPHA:1974
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Splenomegaly, Optic atrophy, Abnormality of skin pigmentation, ...	OMIM:133540
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Pain insensitivity, Ataxia, Intracranial hemorrha...	ORPHA:90062
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Urinary incontinence	ORPHA:466768
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Isolated Biliary Atresia	Splenomegaly, Prolonged prothrombin time, Dark yellow urine	ORPHA:30391
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Abnormal circulating leptin concentration, Patchy hypo- and ...	ORPHA:79474
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s...	OMIM:210720
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Patchy hypo- and hyperpigmentation, Neutropenia, Vesicoureteral reflux, Micropenis	ORPHA:163956
Pitt-Hopkins Syndrome	Micropenis, Hypopigmented skin patches	ORPHA:2896
Kindler Syndrome	Spotty hyperpigmentation, Urethral stenosis, Spotty hypopigmentation, Phimosis	OMIM:173650
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Renal cyst	OMIM:272460
Alagille Syndrome 1	Multiple small medullary renal cysts, Chorioretinal atrophy, Stage 5 chronic kidney disease, Rena...	OMIM:118450
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Phimosis, Acute lymphoblastic leukemia, C...	ORPHA:821
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Micropenis, Chordee, Hypospadias	OMIM:309801
Cowden Syndrome	Multiple cafe-au-lait spots, Hypopigmented skin patches, Abnormal penis morphology, Melanocytic n...	ORPHA:201
Neonatal Marfan Syndrome	Iridodonesis, Megalocornea, Decreased testicular size, Ectopia lentis	ORPHA:284979
Primary Sclerosing Cholangitis	Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal...	ORPHA:171
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Mend Syndrome	Crossed fused renal ectopia, Macular hypoplasia, Spotty hypopigmentation	OMIM:300960
Neurooculorenal Syndrome	Iris atrophy, Ectopic posterior pituitary, Highly arched eyebrow, Cryptorchidism	OMIM:620305
X-Linked Intellectual Disability, Snyder Type	Patchy hypo- and hyperpigmentation, Hypospadias, Ectopic kidney	ORPHA:3063
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Ramon Syndrome	Pigmentary retinopathy, Optic disc pallor	OMIM:266270
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Iris atrophy, Cataract, Hypospadias, Septate vagina, Highly arched eyebrow, Crypto...	ORPHA:261552
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Optic disc hypoplasia, Wide penis, Optic atrophy, Increased serum estradiol, Pigment...	ORPHA:3455
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cry...	ORPHA:286
Pallister-Killian Syndrome	Hypospadias, Hyperpigmented streaks, Renal cyst, Hypopigmented streaks, Hypopigmentation of the skin	OMIM:601803
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Polyuria	OMIM:606721

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bloc1s5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bloc1s5.

No publications found that use IMPC mice or data for Bloc1s5.

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MGI Allele	Allele Type	Produced
Bloc1s5^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Bloc1s5^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Bloc1s5^em1(IMPC)Tcp	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Bloc1s5 MGI:2178598

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E18.5

Eye Morphology

X-ray

X-ray

X-ray

Eye Morphology

X-ray

Gross Pathology and Tissue Collection

Electrocardiogram (ECG)

Human diseases caused by Bloc1s5 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data