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