Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... |
ORPHA:284454 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair |
OMIM:606574 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus |
OMIM:606952 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
Woolly Hair |
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Sparse lateral eyebrow, Fine hair, Sparse body hair, Woolly hair, Abnormal retinal morphology, Br... |
ORPHA:170 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Oculocutaneous Albinism, Type Viii |
|
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... |
OMIM:619165 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o... |
ORPHA:33445 |
Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... |
OMIM:203200 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne... |
ORPHA:100070 |
Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology |
ORPHA:2786 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Numerous pigmented freckles, Chorioretinal coloboma, Patchy hypo- and hyperpigmen... |
OMIM:601706 |
Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Sporadic Creutzfeldt-Jakob Disease |
|
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Recurrent aspir... |
ORPHA:204 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Urinary incontinence, Cerebral cortical atrophy, Astrocytosis, Neuronal loss in central nervous s... |
OMIM:600795 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... |
ORPHA:79433 |
Familial Infantile Bilateral Striatal Necrosis |
|
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Astrocytosis, Atrophy/Dege... |
ORPHA:225154 |
Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, R... |
ORPHA:79476 |
Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... |
ORPHA:897 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Nephrocalcinosis, Astrocytosis, Atrial septal defect |
OMIM:611087 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Ret... |
ORPHA:3437 |
Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... |
OMIM:616188 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin, Athetosis |
OMIM:257800 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... |
ORPHA:352731 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, Frontotemporal cerebral atrophy |
ORPHA:275864 |
Inherited Creutzfeldt-Jakob Disease |
|
Central nervous system degeneration, Global brain atrophy, Vestibular nystagmus, Astrocytosis, Ab... |
ORPHA:282166 |
Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... |
ORPHA:79434 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Hy... |
ORPHA:309854 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Hepatomegaly |
ORPHA:42642 |
Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar at... |
OMIM:203700 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... |
OMIM:618982 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Optic disc pallor, Retinal dystrophy, Hydroureter, Urinary retention, Astrocytosis,... |
ORPHA:90324 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... |
ORPHA:79431 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... |
ORPHA:139402 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Muscle fiber atrophy, Astrocytos... |
ORPHA:258 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Herpes simplex encephalitis |
OMIM:613002 |
Zika Virus Disease |
|
Myelitis, Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Skin... |
ORPHA:448237 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... |
ORPHA:540 |
Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
American Trypanosomiasis |
|
Cardiomyopathy, Splenomegaly, Skin rash, Infectious encephalitis, Aganglionic megacolon, Hepatome... |
ORPHA:3386 |
Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenom... |
OMIM:615122 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Cerebral cortical atrophy, Camptodactyly of finger, Hypertrophic cardiomyopathy, Abnormal pulmona... |
ORPHA:1194 |
Congenital Enterovirus Infection |
|
Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, Abnormal macro... |
ORPHA:292 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Infectiou... |
ORPHA:549 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Hypoplasia of the fovea, Absent skin pigmentation, Blue irides, Albi... |
OMIM:203100 |
Scrub Typhus |
|
Renal insufficiency, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Myocardit... |
ORPHA:83317 |
Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
Q Fever |
|
Hepatosplenomegaly, Hematuria, Hepatomegaly, Endocarditis, Granuloma, Osteomyelitis, Abnormality ... |
ORPHA:781 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
Supranuclear Palsy, Progressive, 1 |
|
Cerebral atrophy, Astrocytosis, Retrocollis, Gliosis, Neuronal loss in central nervous system, Se... |
OMIM:601104 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Typhoid |
|
Hepatomegaly, Skin rash, Splenomegaly, Infectious encephalitis |
ORPHA:99745 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... |
ORPHA:1304 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E... |
OMIM:618156 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Leukopenia, Hepatosple... |
OMIM:603553 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Eosinophilia, Neutropeni... |
ORPHA:1163 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat... |
ORPHA:79477 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Biliary tract abnormality, Infectious encephalitis, Colitis, N... |
OMIM:209920 |
Agammaglobulinemia, X-Linked |
|
Cor pulmonale, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Conjunctivitis, Recurrent o... |
OMIM:300755 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Hypoplasia of the fovea, Iris transillum... |
OMIM:619172 |
Avian Influenza |
|
Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Myelitis... |
ORPHA:454836 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia, Tremor |
ORPHA:79254 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Septic arthritis, Hepatitis, Fasciitis, Osteomyelitis, Renal insufficiency, Abscess, S... |
ORPHA:36234 |
Listeriosis |
|
Arteritis, Abscess, Rhabdomyolysis, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomy... |
ORPHA:533 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Multiple cafe-au-lait spots, Tremor, Premature graying of hair |
ORPHA:100 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopath... |
OMIM:267700 |
Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... |
ORPHA:2552 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Acquired Hypertrichosis Lanuginosa |
|
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Infectious encephalitis, Pros... |
OMIM:307200 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Pigmentary retinopathy, Retinopathy |
OMIM:610951 |
Whipple Disease |
|
Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Hepatomegaly, Arthritis, Myocarditis, A... |
ORPHA:3452 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411515 |
Reynolds Syndrome |
|
Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjunctivitis sicca, Arthritis, Hepatomegal... |
ORPHA:779 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, Sclerosing cho... |
OMIM:308230 |
Gm1 Gangliosidosis |
|
Optic atrophy, Cardiomyopathy, Camptodactyly of finger, Abnormal heart morphology, Cherry red spo... |
ORPHA:354 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Premature gray... |
OMIM:611584 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia |
ORPHA:70472 |
Zygomycosis |
|
Abnormal cranial nerve morphology, Pustule, Retinal detachment, Acute infectious pneumonia, Neutr... |
ORPHA:73263 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Functional abnormality of the bladder, Hepatitis, Eczematoi... |
ORPHA:391487 |
Cerebral Visual Impairment |
|
Optic atrophy, Central nervous system degeneration, Neurodegeneration, Infectious encephalitis, R... |
ORPHA:447788 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Sympathetic Ophthalmia |
|
Macular edema, Alopecia, Vitiligo, Vitreous floaters, Papilledema, Retinal detachment, Retinal he... |
ORPHA:79098 |
Rift Valley Fever |
|
Macular edema, Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Ret... |
ORPHA:319251 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Blue irides |
OMIM:614613 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Elevated circulating creatinine concentration, Abnormal retinal vascular morpholog... |
ORPHA:247691 |
Nocardiosis |
|
Pneumonia, Brain abscess, Cutaneous abscess, Liver abscess, Lymphadenitis, Abnormal heart valve m... |
ORPHA:31204 |
Waardenburg Syndrome, Type 1 |
|
Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Thick eyebrow, White... |
OMIM:193500 |
Behçet Disease |
|
Recurrent aphthous stomatitis, Renal insufficiency, Retinopathy, Splenomegaly, Infectious encepha... |
ORPHA:117 |
Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Tremor, M... |
OMIM:214500 |
Meningococcal Meningitis |
|
Papilledema, Renal insufficiency, Skin rash, Infectious encephalitis |
ORPHA:33475 |
Nipah Virus Disease |
|
Infectious encephalitis |
ORPHA:99825 |
Poliomyelitis |
|
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... |
ORPHA:2912 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... |
OMIM:616170 |
Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... |
ORPHA:3214 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Chorioretinal coloboma, Infectious encephalitis |
ORPHA:2481 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Optic atrophy, Cerebral cortical atrophy, Abnormal hemoglobin, Infectious encephalitis, Hydroneph... |
ORPHA:847 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Hartnup Disease |
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Infectious encephalitis, Skin rash, Neutral hyperaminoaciduria, Abnormal urinary color |
ORPHA:2116 |
New-Onset Refractory Status Epilepticus |
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Global brain atrophy, Infectious encephalitis |
ORPHA:363558 |
Brittle Cornea Syndrome |
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Retinal detachment, Abnormality of hair pigmentation |
ORPHA:90354 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair, Hyperbilirubinemia |
OMIM:609734 |
Lyme Disease |
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Infectious encephalitis, Arthritis, Uveitis |
ORPHA:91546 |
Waardenburg Syndrome, Type 4C |
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Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
Hermansky-Pudlak Syndrome |
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Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... |
ORPHA:79430 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98795 |
Incontinentia Pigmenti |
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Cerebral cortical atrophy, Keratitis, Camptodactyly of finger, Skin rash, Infectious encephalitis... |
ORPHA:464 |
Hoyeraal-Hreidarsson Syndrome |
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Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... |
ORPHA:3322 |
Vici Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Elevated circulati... |
OMIM:242840 |
Chédiak-Higashi Syndrome |
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Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Increased circulat... |
ORPHA:167 |
Hypohidrotic Ectodermal Dysplasia |
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Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... |
ORPHA:238468 |
Immunoglobulin A Vasculitis |
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Optic atrophy, Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, ... |
ORPHA:761 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Tremor |
ORPHA:98794 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Iris hypopigmentation, Ocular albinism, Choroideremia, Hypopigmentation of hair, Athetosis |
ORPHA:2719 |
Angelman Syndrome Due To A Point Mutation |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411511 |
Japanese Encephalitis |
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Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Elbow flexion contracture, In... |
ORPHA:79139 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Cysticercosis |
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Abnormal optic chiasm morphology, Abnormal skeletal muscle morphology, Chorioretinitis, Infectiou... |
ORPHA:1560 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Amoebiasis Due To Free-Living Amoebae |
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Pneumonia, Myocardial necrosis, Increased red blood cell count, Granuloma, Infectious encephaliti... |
ORPHA:68 |
Sim1-Related Prader-Willi-Like Syndrome |
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Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Chikungunya |
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Cervical lymphadenopathy, Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, S... |
ORPHA:324625 |
Cystinosis, Nephropathic |
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Pigmentary retinopathy, Hypopigmentation of the skin, Decreased circulating carnitine concentrati... |
OMIM:219800 |
Syndromic Diarrhea |
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Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Abnormality of... |
ORPHA:84064 |
Koolen-De Vries Syndrome |
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Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
Magel2-Related Prader-Willi-Like Syndrome |
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Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Duane Retraction Syndrome |
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Blepharospasm, Irregular hyperpigmentation, Hypopigmented skin patches, Optic disc hypoplasia, Ch... |
ORPHA:233 |
Alexander Disease |
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Facial palsy, Abnormal autonomic nervous system physiology, Infectious encephalitis |
ORPHA:58 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... |
ORPHA:163746 |
Prader-Willi Syndrome Due To Translocation |
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Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... |
ORPHA:177907 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177901 |
Degcags Syndrome |
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Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... |
OMIM:619488 |
Smith-Lemli-Opitz Syndrome |
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Elevated circulating 7-dehydrocholesterol concentration, Optic atrophy, Hypopigmentation of hair,... |
ORPHA:818 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Menkes Disease |
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Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Retinal degeneration |
ORPHA:168491 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Elevated circulating hepatic transaminase concentration, Enuresis, Abnormal autonomic nervous sys... |
ORPHA:293987 |