Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation |
OMIM:615674 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia |
OMIM:608404 |
Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
Dyschromatosis Universalis Hereditaria |
|
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... |
ORPHA:241 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... |
OMIM:617294 |
Glanzmann Thrombasthenia 2 |
|
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... |
OMIM:619267 |
Athrombia, Essential |
|
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 11 |
|
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... |
OMIM:614201 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... |
OMIM:607624 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... |
OMIM:231200 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections |
ORPHA:90023 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Tietz Albinism-Deafness Syndrome |
|
Heterochromia iridis, White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... |
OMIM:615888 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615990 |
Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hypomelanotic macule |
OMIM:615327 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair |
OMIM:606574 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... |
OMIM:155100 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... |
OMIM:145250 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair |
OMIM:620199 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Retinitis Pigmentosa 39 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613809 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... |
OMIM:314050 |
Choroideremia |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Numm... |
OMIM:303100 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Macular dystrophy, ... |
OMIM:608051 |
Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Oculocutaneous Albinism, Type Viii |
|
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris tran... |
OMIM:619165 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Deafness, Congenital, With Total Albinism |
|
Albinism, Hearing impairment |
OMIM:220900 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... |
ORPHA:998 |
Gastric Cancer |
|
Increased level of L-fucose in urine |
OMIM:613659 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... |
ORPHA:97341 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Von Willebrand Disease, Type 3 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Slc35A1-Cdg |
|
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... |
ORPHA:238459 |
Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Hearing impairment, Abnormality of skin pigmentation |
OMIM:300719 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Central Areolar Choroidal Dystrophy |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... |
ORPHA:75377 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... |
OMIM:618697 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... |
ORPHA:75376 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... |
ORPHA:79397 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... |
OMIM:613428 |
Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... |
OMIM:187900 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... |
OMIM:139090 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Phenylketonuria |
|
Cataract, Fair hair, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disord... |
OMIM:261600 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Retinitis Pigmentosa 61 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:614180 |
Piebald Trait With Neurologic Defects |
|
White forelock, Hearing impairment, Absent pigmentation of the ventral chest |
OMIM:172850 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... |
OMIM:131960 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:600977 |
Retinitis Pigmentosa 40 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613801 |
Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Retinitis Pigmentosa 62 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy |
OMIM:172870 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Premature graying of hair |
ORPHA:66633 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-growing hair... |
ORPHA:170 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Hypopigmentation of the skin |
OMIM:610798 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles, Patchy hypo... |
OMIM:601706 |
Retinitis Pigmentosa 76 |
|
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... |
OMIM:617123 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy |
ORPHA:75373 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... |
ORPHA:69125 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615725 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... |
OMIM:608133 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Anterior Segment Dysgenesis 4 |
|
Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
Myh9-Related Disease |
|
Giant platelets, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurrent epistax... |
ORPHA:182050 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... |
ORPHA:89838 |
Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... |
ORPHA:231393 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Nystagmus 6, Congenital, X-Linked |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling |
OMIM:300814 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Choroidal Atrophy-Alopecia Syndrome |
|
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... |
ORPHA:1433 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Polyphagia, Hyperact... |
ORPHA:411515 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... |
OMIM:619271 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Thrombocytopenia 9 |
|
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombo... |
OMIM:620478 |
Retinitis Pigmentosa 9 |
|
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... |
OMIM:613731 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Retinitis Pigmentosa 84 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:618220 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation... |
ORPHA:79399 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p... |
OMIM:601399 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 90 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:619007 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Retinitis Pigmentosa 80 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:617781 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... |
OMIM:187800 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Leukocyt... |
ORPHA:3318 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Blue irides, Hyperactivity |
OMIM:615516 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair |
ORPHA:79476 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia |
ORPHA:99000 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Polyphagia, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal... |
ORPHA:352731 |
Gemignani Syndrome |
|
Hypopigmented skin patches, Sensorineural hearing impairment |
ORPHA:2074 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
Albinism-Deafness Syndrome |
|
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism |
OMIM:300700 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo... |
OMIM:275400 |
Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
Retinitis Pigmentosa 27 |
|
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... |
OMIM:613750 |
Hermansky-Pudlak Syndrome 7 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... |
OMIM:614076 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... |
OMIM:611521 |
Cone-Rod Dystrophy 16 |
|
Attenuation of retinal blood vessels, Beaten bronze macular sheen, Cone/cone-rod dystrophy, Bone ... |
OMIM:614500 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
Progressive Hemifacial Atrophy |
|
Heterochromia iridis, Irregular hyperpigmentation |
ORPHA:1214 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Aggressive behavior, Fair hair, Developmental cataract |
OMIM:618808 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... |
ORPHA:85128 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Hypertrichosis Lanuginosa Congenita |
|
Generalized hirsutism, Thick eyebrow, Hearing impairment, Abnormality of skin pigmentation |
ORPHA:2222 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy |
OMIM:312612 |
Cone-Rod Dystrophy 24 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... |
OMIM:620342 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma |
ORPHA:168 |
Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... |
ORPHA:1067 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
OMIM:242600 |
Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Indolylacroyl Glycinuria With Impaired Intellectual Development |
|
Hyperglycinuria |
OMIM:243050 |
Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... |
OMIM:615193 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
Bleeding Disorder, Platelet-Type, 25 |
|
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... |
OMIM:620486 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... |
OMIM:613953 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
Eem Syndrome |
|
Sparse body hair, Retinopathy, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystr... |
ORPHA:1897 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... |
OMIM:614009 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Stargardt Disease |
|
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... |
ORPHA:827 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Pigmentary retinopathy, Retinopathy |
OMIM:610951 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Vitiligo, Otitis media, Recurrent... |
ORPHA:275 |
Factor V Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... |
OMIM:227400 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen... |
OMIM:251270 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... |
ORPHA:2251 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Von Willebrand Disease, Type 1 |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... |
OMIM:193400 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Thrombocytopenia |
ORPHA:67048 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
Bietti Crystalline Dystrophy |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... |
ORPHA:41751 |
Hermansky-Pudlak Syndrome 5 |
|
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... |
OMIM:614074 |
Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... |
ORPHA:897 |
Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse eyebrow, Nail dysplasia, Abnormality of skin pigmentation, Recurrent infections, Sparse sc... |
OMIM:225050 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Heimler Syndrome 1 |
|
Leukonychia, Beau's lines, Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... |
OMIM:618462 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections |
OMIM:608957 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... |
ORPHA:3437 |
Achromatopsia |
|
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... |
ORPHA:49382 |
Griscelli Syndrome |
|
Iris hypopigmentation, Silver-gray hair, Hypopigmented skin patches, White hair, Premature grayin... |
ORPHA:381 |
Focal Facial Dermal Dysplasia Type I |
|
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... |
ORPHA:79133 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Immunodeficiency 61 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
Platelet Signal Processing Defect |
|
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... |
OMIM:173590 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:180100 |
Newfoundland Rod-Cone Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal dystrophy |
OMIM:607476 |
Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612572 |
Leber Congenital Amaurosis 8 |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... |
OMIM:613835 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... |
ORPHA:325 |
X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ... |
ORPHA:54 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Waardenburg Syndrome, Type 3 |
|
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... |
OMIM:148820 |
Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Abnormality of retinal pigmentation, Uncombable hair |
ORPHA:1264 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... |
ORPHA:79434 |
Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... |
OMIM:604116 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr... |
OMIM:619172 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Hypopigmentation of the skin, Thrombocytopenia, Ocular albinism |
OMIM:614171 |
Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... |
ORPHA:158681 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches, Sensorineural hearing impairment |
ORPHA:3239 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Sparse hair |
ORPHA:3363 |
Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... |
OMIM:204100 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:616108 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Blue irides, Hyperactivity |
OMIM:614613 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Cafe-au-lait spot, Hyperactivity |
ORPHA:436151 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:600105 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... |
ORPHA:3214 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Premature graying of hair |
OMIM:616371 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, Prema... |
OMIM:611584 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... |
ORPHA:506353 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... |
OMIM:608553 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Hyperactivity, Hirsutism |
ORPHA:85288 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal n... |
ORPHA:3226 |
Retinitis Pigmentosa 77 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... |
OMIM:617304 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613756 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619389 |
Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha... |
ORPHA:411511 |
Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90342 |
Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
Retinitis Pigmentosa 83 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... |
OMIM:618173 |
Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... |
OMIM:203100 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract |
ORPHA:231169 |
Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo... |
ORPHA:1816 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... |
OMIM:613810 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... |
OMIM:312600 |
Retinitis Pigmentosa 10 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:180105 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... |
OMIM:605258 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... |
ORPHA:319552 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Uv-Sensitive Syndrome 1 |
|
Pigmentation anomalies of sun-exposed skin, Freckling |
OMIM:600630 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Fingernail dysplasia, Iris coloboma, Abnormality of retinal pigmentation |
ORPHA:1259 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur... |
OMIM:613501 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Tonne-Kalscheuer Syndrome |
|
Self-injurious behavior, Small nail, Fine hair, Aggressive behavior, Blue irides, Concave nail, D... |
OMIM:300978 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... |
OMIM:613581 |
Specific Granule Deficiency 2 |
|
Low-set ears, Recurrent pneumonia, Sepsis, Recurrent otitis media, Hirsutism, Simple ear, Nail dy... |
OMIM:617475 |
Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... |
OMIM:214500 |
Retinitis Pigmentosa 25 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:602772 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Tongue thrusting, Hypopigmentation of hair, ... |
ORPHA:98795 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Cataract, Hypochromic anemia, White hair, Ocular albinism, Generalized hyp... |
ORPHA:2720 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Edinburgh Malformation Syndrome |
|
Hirsutism, Low posterior hairline, Generalized hirsutism, Brushfield spots, Synophrys |
ORPHA:1895 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... |
OMIM:145350 |
Cone-Rod Dystrophy 8 |
|
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... |
OMIM:605549 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Morm Syndrome |
|
Cataract, Aggressive behavior, Hyperactivity |
ORPHA:75858 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm... |
ORPHA:79402 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha... |
ORPHA:98794 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, High-frequency hearing impairment, Recurrent bronchi... |
OMIM:300455 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Phenylketonuria |
|
Hypopigmentation of the skin |
ORPHA:716 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region |
ORPHA:79411 |
Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
Alopecia Totalis |
|
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails |
ORPHA:700 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormality of retinal pigmentation, Synophrys |
ORPHA:1390 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:613493 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Microcytic anemia, Abnormality of the pulmonary artery, Internal hem... |
ORPHA:90308 |
Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Aggressive behavior, Dysphagia |
ORPHA:97229 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... |
OMIM:618195 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Joubert Syndrome 28 |
|
Highly arched eyebrow, Pigmentary retinopathy, Optic disc pallor |
OMIM:617121 |
Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:300029 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy |
OMIM:601957 |
Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair |
ORPHA:1573 |
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 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen |
OMIM:204000 |
Jalili Syndrome |
|
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... |
OMIM:217080 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:616873 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Thrombocytopenia 2 |
|
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... |
OMIM:188000 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Cone-Rod Dystrophy 10 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
Night Blindness, Congenital Stationary, Type 1C |
|
Abnormality of skin pigmentation |
OMIM:613216 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... |
OMIM:619927 |
Pancreatic Cancer |
|
Increased level of L-fucose in urine |
OMIM:260350 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai... |
OMIM:104100 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:613502 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal arteriola... |
OMIM:600132 |
Hermansky-Pudlak Syndrome 8 |
|
Silver-gray hair, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Blue irides, Genera... |
OMIM:614077 |
Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,... |
OMIM:193500 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:610738 |
Congenital Microcoria |
|
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... |
ORPHA:566 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Noonan Syndrome 13 |
|
Highly arched eyebrow, Head-banging, Hypertrichosis, Multiple lentigines, Low posterior hairline,... |
OMIM:619087 |
Sjögren-Larsson Syndrome |
|
Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:153670 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Splenomegaly, Abnormality of skin pigmentation |
ORPHA:834 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Immunodeficiency 112 |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... |
OMIM:620449 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
Idiopathic Trachyonychia |
|
Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ... |
ORPHA:79153 |
Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Myeloproliferative disorder, Iritis,... |
ORPHA:158000 |
Immunodeficiency 7 |
|
Recurrent otitis media, Vitiligo, Patchy alopecia, Severe varicella zoster infection, Recurrent r... |
OMIM:615387 |
Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:1791 |
Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Aplasia/Hyp... |
ORPHA:85194 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hypertrichosis, Long eyelashes, Thick eyebrow, Aggressive behavior, Hype... |
OMIM:618362 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior synechiae of the anterior chamber, Retinal pigment epithelial mottling, Abnormal macula... |
ORPHA:364055 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Frontal balding, Self-mutilation, Blue irides, Early balding, Cafe-au-lait spot |
ORPHA:3041 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal... |
ORPHA:1807 |
Angelman Syndrome |
|
Iris hypopigmentation, Keratoconus, Self-injurious behavior, Hypopigmentation of the skin, Fair h... |
ORPHA:72 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... |
OMIM:617443 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Ramon Syndrome |
|
Generalized hirsutism, Abnormality of retinal pigmentation |
ORPHA:3019 |
Retinitis Pigmentosa 72 |
|
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... |
OMIM:616469 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
Retinitis Pigmentosa 60 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:613983 |
Angelman Syndrome |
|
Hypopigmentation of the skin, Fair hair, Blue irides, Hyperactivity, Paroxysmal bursts of laughter |
OMIM:105830 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... |
ORPHA:906 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Recurrent bacterial infections |
OMIM:612692 |
Retinitis Pigmentosa 75 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:617023 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
Darier Disease |
|
Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H... |
ORPHA:218 |
Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,... |
ORPHA:79430 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... |
ORPHA:52427 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
Hermansky-Pudlak Syndrome 2 |
|
Low-set ears, Recurrent pneumonia, Fair hair, Ocular albinism, Recurrent otitis media, Aberrant m... |
OMIM:608233 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Hypopigmentation of the skin, Sparse hair, Macrotia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... |
OMIM:240500 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... |
ORPHA:69087 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Thrombocytopenia 10 |
|
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... |
OMIM:620484 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... |
ORPHA:98813 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair |
ORPHA:1810 |
Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... |
ORPHA:83471 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... |
OMIM:617547 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Iris transillumination defect, Cataract, Microcornea, Generalized hypopigmentation |
OMIM:617306 |
Hermansky-Pudlak Syndrome 4 |
|
Albinism, Absent platelet dense granules, Ocular albinism |
OMIM:614073 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... |
OMIM:120970 |
Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial... |
OMIM:619649 |
Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Fair hair |
OMIM:269920 |
Neuhauser Syndrome |
|
Hypoplasia of the iris, Megalocornea, Low anterior hairline, Iridodonesis, Dysphagia, Iris transi... |
OMIM:249310 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... |
OMIM:162000 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:158029 |
Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... |
ORPHA:67042 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Large Congenital Melanocytic Nevus |
|
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... |
ORPHA:626 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple |
ORPHA:1173 |
Juvenile Paget Disease |
|
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation |
ORPHA:2801 |
Al-Raqad Syndrome |
|
Low-set ears, Hypopigmentation of the skin |
OMIM:616459 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Lichen Planopilaris |
|
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches, Onycholysis |
ORPHA:525 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... |
ORPHA:2688 |
Night Blindness, Congenital Stationary, Type 1B |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:257270 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1784 |
Acquired Hypertrichosis Lanuginosa |
|
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling |
OMIM:219900 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... |
ORPHA:284454 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Anemia, Hypopig... |
ORPHA:2719 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... |
OMIM:614075 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2584 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... |
ORPHA:411536 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Menkes Disease |
|
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair |
OMIM:309400 |
Maternal Uniparental Disomy Of Chromosome X |
|
Low posterior hairline, Hypopigmentation of the skin |
ORPHA:261519 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Neurocutaneous Melanocytosis |
|
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... |
ORPHA:2481 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule |
OMIM:618373 |
Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract |
ORPHA:231178 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... |
ORPHA:572 |
Neovascular Glaucoma |
|
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... |
ORPHA:94058 |
Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Blue irides, Thrombocytopenia, Curly hair |
OMIM:610733 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:620141 |
Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Abnormality of neutrophil physiology, Hypopigmentation of the skin, Spotty... |
ORPHA:167 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... |
OMIM:243700 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Vitiligo, Multiple lentigines |
ORPHA:101003 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
Proteus-Like Syndrome |
|
Cataract, Irregular hyperpigmentation, Thymus hyperplasia, Abnormal pupil morphology, Splenomegal... |
ORPHA:2969 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Gingival bleeding, Epistaxis, Decreased proportion of CD8-positiv... |
OMIM:301000 |
Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutaneous fungal... |
ORPHA:276 |
Sturge-Weber Syndrome |
|
Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Attention deficit... |
ORPHA:3205 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Chorioretinal atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... |
ORPHA:5 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the skin, Conge... |
ORPHA:1867 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis |
ORPHA:90646 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Multiple cafe-au-lait spots, Recurrent respiratory infections, Prematur... |
ORPHA:100 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... |
ORPHA:169090 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Abnormality of skin pigmentation |
ORPHA:220402 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Pigmentary retinopathy, Sparse hair, Rod-cone dystrophy |
OMIM:268020 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia |
OMIM:273900 |
Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Nail dys... |
OMIM:612783 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Recurrent opportunistic infections, Reticulated skin pigmentation, Nail dystrophy |
OMIM:613987 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Hypoplasia of the thymus, ... |
OMIM:214110 |
Cone-Rod Dystrophy 6 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... |
OMIM:601777 |
Immunodeficiency 115 With Autoinflammation |
|
Recurrent bacterial infections, Recurrent viral infections, Candida esophagitis |
OMIM:620632 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Leukopenia, Hemolytic anemia, Splenomegaly, Purpura, Prolonged bleed... |
ORPHA:809 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches, Sensorineural hearin... |
ORPHA:53271 |
Leigh Syndrome, Nuclear |
|
Optic atrophy, Pigmentary retinopathy, Hypertrichosis |
OMIM:256000 |
Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:609033 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Abnormal temper tantrums, Hypopigmentation of the skin, Head-banging, Skin... |
ORPHA:177907 |
Zika Virus Disease |
|
Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic... |
ORPHA:448237 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613496 |
Acquired Purpura Fulminans |
|
Macular purpura, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intracranial ... |
ORPHA:49566 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Cataract, Fair hair, Hyperactivity, Abnormality of hair texture, Impulsivity |
OMIM:610443 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... |
ORPHA:98793 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin |
OMIM:615980 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time, Atherosclerosis |
OMIM:610842 |
Specific Granule Deficiency 1 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:245480 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Irregular hyperpigmentation, Sensorineural hearing im... |
ORPHA:36412 |
Zellweger Syndrome |
|
Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnormal chorioretinal morpho... |
ORPHA:912 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... |
ORPHA:177904 |
Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... |
ORPHA:177901 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches |
ORPHA:1825 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... |
OMIM:616959 |
Selective Igm Deficiency |
|
Recurrent bronchitis, Meningitis, Otitis media, Recurrent sinusitis, Recurrent infections, Recurr... |
ORPHA:331235 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Chromomycosis |
|
Recurrent bacterial infections, Hypopigmented skin patches |
ORPHA:182 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... |
ORPHA:98754 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Wyburn-Mason Syndrome |
|
Iris hypopigmentation |
ORPHA:53719 |
Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:615986 |
Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy |
ORPHA:370968 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hearing impairment, Fine hair, Abnormal fingernail morphology, Protruding ear, Abnormality of ski... |
ORPHA:1806 |
Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormal eyelash morphology, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent enteroviral infections, Hearing impairment, Enteroviral dermatomyositis syndrome, Recur... |
OMIM:307200 |
Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Hypertrichosis, Recurrent urinary tract infections, Low posterior hai... |
ORPHA:221139 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... |
ORPHA:183675 |
Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... |
ORPHA:791 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Nail dystrophy, Self-mutilation, Recurrent corneal erosions, Nail dy... |
OMIM:256800 |
Arthrogryposis, Distal, Type 5 |
|
Retinal fold, Abnormality of retinal pigmentation |
OMIM:108145 |
Relapsing Fever |
|
Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, P... |
ORPHA:91547 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Recurrent viral infections, Severe varicella zoster infection, Patchy alope... |
OMIM:606367 |
Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:300578 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
Nail-Patella Syndrome |
|
High anterior hairline, Toenail dysplasia, Fingernail dysplasia, Abnormal iris pigmentation, Prim... |
ORPHA:2614 |
Dowling-Degos Disease |
|
Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp... |
ORPHA:79145 |
8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity |
ORPHA:284160 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation |
ORPHA:290 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Nail dystrophy, Abnormality of skin pigmentation |
OMIM:613988 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib... |
ORPHA:99147 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:216866 |
Hypomelanosis Of Ito |
|
Alopecia, Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation |
OMIM:616353 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections, Sparse h... |
OMIM:300291 |
Vici Syndrome |
|
Low-set ears, Hypopigmentation of the skin, Recurrent viral infections, Chronic mucocutaneous can... |
OMIM:242840 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,... |
ORPHA:163746 |
Whim Syndrome |
|
Recurrent pneumonia, Sepsis, Recurrent upper respiratory tract infections, Vitiligo, Otitis media... |
ORPHA:51636 |
Macs Syndrome |
|
Aortic aneurysm, Bruising susceptibility, Prolonged bleeding time |
OMIM:613075 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... |
OMIM:116920 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... |
ORPHA:486 |
Vici Syndrome |
|
Hypopigmentation of the skin, Recurrent respiratory infections, Abnormality of retinal pigmentati... |
ORPHA:1493 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, White forelock, Abnormality of retinal pigmentation, Low anterior... |
ORPHA:742 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus |
OMIM:229200 |
Joubert Syndrome 3 |
|
Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... |
OMIM:613195 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Hyperpigmentation of the skin |
ORPHA:2176 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypopig... |
ORPHA:2715 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Optic atrophy, Coarse hair, Thick eyebrow |
ORPHA:585 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Sensorineural hearing impairment |
OMIM:619693 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:268315 |
Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Highly arched eyebrow, Peters anomaly, Small nail, Long eyelashes, Thick e... |
OMIM:619539 |
Hermansky-Pudlak Syndrome 10 |
|
Albinism, Splenomegaly, Neutropenia, Ocular albinism |
OMIM:617050 |
Duane Retraction Syndrome |
|
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Chorioretinal coloboma, Cen... |
ORPHA:233 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... |
OMIM:601495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy |
OMIM:613156 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of nail color |
ORPHA:1824 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Brushfield spots, Dysphagia |
OMIM:214100 |
Xeroderma Pigmentosum, Complementation Group C |
|
Hypopigmentation of the skin, Freckling |
OMIM:278720 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... |
ORPHA:3322 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty hypopigmentation, ... |
OMIM:300860 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... |
ORPHA:335 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... |
OMIM:615994 |
Alg3-Cdg |
|
Hypopigmentation of the skin |
ORPHA:79321 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
Omenn Syndrome |
|
Recurrent bacterial infections, Alopecia, Recurrent viral infections, Recurrent fungal infections |
OMIM:603554 |
Familial Dysautonomia |
|
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Ridged nail, Anonychia, Lester's sign, Concave nail, Antecubi... |
OMIM:161200 |
Neurofibromatosis Type 1 |
|
Cataract, Inguinal freckling, Axillary freckling, Chronic myelogenous leukemia, Hypopigmented ski... |
ORPHA:636 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Small nail, Hepatosplenomegaly, Opacification of the corneal st... |
OMIM:614866 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Thromboc... |
ORPHA:64743 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Iris coloboma |
OMIM:253250 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti... |
OMIM:616005 |
Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Splenomegaly, Hirsutism, Aggressive behavior, Hyperactivity, Synophrys |
OMIM:252920 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches |
ORPHA:3453 |
Knobloch Syndrome 1 |
|
Band keratopathy, Horizontal eyebrow, Alopecia of scalp, Chorioretinal atrophy, Iris transillumin... |
OMIM:267750 |
Leber Congenital Amaurosis 15 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... |
OMIM:613843 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, Brittle hair |
OMIM:236200 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... |
OMIM:613179 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia, White forelock, Nail dystro... |
OMIM:613989 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse pubic hair, Sparse eyebrow, Fair hair, Facial hirsutism, Nail dystrophy, Sparse eyelashes,... |
OMIM:604292 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Highly arched eyebrow, Microcornea, Heterochromia iridis, Low posterior hairline, Iris coloboma |
ORPHA:2995 |
Acute Radiation Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:454831 |
Immunodeficiency 67 |
|
Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypopigmented skin patches, Hepatosplenomegaly, White forelock, Heterochromia iridis, White eyebr... |
OMIM:609136 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Retinal pigment epithelial mottling |
OMIM:614105 |
Revesz Syndrome |
|
Ridged fingernail, Aplastic anemia, Fine hair, Megalocornea, Nail dystrophy, Macrocytic anemia, L... |
OMIM:268130 |
Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... |
OMIM:310600 |
Refsum Disease |
|
Nail dysplasia, Retinopathy, Abnormality of retinal pigmentation |
ORPHA:773 |
Intellectual Disability And Myopathy Syndrome |
|
Spotty hypopigmentation, Cafe-au-lait spot |
OMIM:619719 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate brown pigmentation... |
ORPHA:79396 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl... |
OMIM:129900 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
ORPHA:88628 |
Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... |
ORPHA:238468 |
Porphyria Variegata |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:79473 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys |
ORPHA:1295 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:35125 |
Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, White forelock, Abnormality of retinal pigmentati... |
ORPHA:902 |
Immunodeficiency 23 |
|
Conductive hearing impairment, Chronic mucocutaneous candidiasis, Recurrent respiratory infection... |
OMIM:615816 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Sepsis, Enteroviral encephalitis, Meningitis, Recurrent bacterial... |
OMIM:308230 |
Crouzon Syndrome |
|
Melanocytic nevus, Hypopigmented skin patches |
ORPHA:207 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hirsutism, Hypopigmentation of the skin, Synophrys |
OMIM:614969 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent enteroviral infections, Recurrent fungal infections, Recurr... |
ORPHA:331206 |
Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... |
ORPHA:2330 |
Micro Syndrome |
|
Generalized hirsutism, Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma |
ORPHA:2510 |
Short Syndrome |
|
Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon,... |
ORPHA:3163 |
Cohen Syndrome |
|
Optic atrophy, Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Low anterior h... |
ORPHA:193 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Melanocytic nevus, Blue irides |
OMIM:101800 |
Mannosidosis, Alpha B, Lysosomal |
|
Hypertrichosis, Thick eyebrow, Sensorineural hearing impairment, Low anterior hairline, Recurrent... |
OMIM:248500 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Hypopigmentation of the skin, Sensorineural hearing impairment |
OMIM:620237 |
Papillon-Lefèvre Syndrome |
|
Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai... |
ORPHA:678 |
Porphyria Cutanea Tarda |
|
Hirsutism, Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:101330 |
Slc35A2-Cdg |
|
Hypopigmentation of the skin |
ORPHA:356961 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... |
ORPHA:1969 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia universalis, Alopecia, Pigmentary retinopathy, Vitiligo, Nail dystrophy, Perifoveal ring... |
OMIM:240300 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Hypopigmentation of the skin |
OMIM:163200 |
Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Leukemia, Uveitis |
ORPHA:790 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Breast hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Squalene Synthase Deficiency |
|
Low-set ears, Posteriorly rotated ears, Abnormality of hair pigmentation, Macrotia |
OMIM:618156 |
Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Hypopigmented skin patches, Hearing impairment, Abnormal antihelix ... |
ORPHA:96061 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,... |
ORPHA:85167 |
Noonan Syndrome |
|
Coarse hair, Juvenile myelomonocytic leukemia, Abnormality of the spleen, Melanocytic nevus, Low ... |
ORPHA:648 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
Curry-Jones Syndrome |
|
Generalized hirsutism, Hypopigmented skin patches |
ORPHA:1553 |
Pgm3-Cdg |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Conductive hearing impairment, Recurrent... |
ORPHA:443811 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Low-set ears, Posteriorly rotated ears |
OMIM:241410 |
Cohen Syndrome |
|
Optic atrophy, Thick eyebrow, Bull's eye maculopathy, Chorioretinal dystrophy, Bone spicule pigme... |
OMIM:216550 |
Hartnup Disease |
|
Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2116 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
Porphyria, Congenital Erythropoietic |
|
Alopecia, Hypopigmentation of the skin, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of t... |
OMIM:263700 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Distichiasis, Pigmentary retinopathy |
OMIM:600462 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Pigmentary retinopathy, Retinal dysplasia, Posterior synechiae of the anterior cha... |
OMIM:613154 |
Adult Syndrome |
|
Absent nipple, Fair hair, Breast hypoplasia, Alopecia of scalp, Sparse axillary hair, Hypoplastic... |
OMIM:103285 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology, Small nail, Hyposegmentation of neutrophil nuclei |
ORPHA:250999 |
Mismatch Repair Cancer Syndrome 1 |
|
Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling |
OMIM:276300 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Pigmentary retinopathy, Freckling |
OMIM:610651 |
Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Hellp Syndrome |
|
Microangiopathic hemolytic anemia, Hemolytic anemia, Internal hemorrhage, Thrombocytopenia, Cereb... |
ORPHA:244242 |
Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:222300 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:306400 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cafe-au-lait spot, Hypopigmented skin patches, Curly hair |
ORPHA:457485 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Pigmentary retinopathy, Optic atrophy |
OMIM:617282 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy |
ORPHA:79095 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Abnormal optic nerve morphology, Abnormal hair morphology, Leukonychia, Abnormalit... |
ORPHA:2526 |
Rothmund-Thomson Syndrome |
|
Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen... |
ORPHA:2909 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Hypertrichosis |
OMIM:309900 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Brittle Cornea Syndrome |
|
Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Corneal dystroph... |
ORPHA:90354 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Bloom Syndrome |
|
Spotty hypopigmentation, Hypopigmentation of the skin, Cafe-au-lait spot, Hypertrichosis |
OMIM:210900 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia |
OMIM:267700 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Phacoanaphylactic Uveitis |
|
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... |
ORPHA:209959 |
Phace Syndrome |
|
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma |
ORPHA:42775 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, P... |
OMIM:603553 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia |
ORPHA:99901 |
Syndromic Diarrhea |
|
Recurrent infections, Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittl... |
ORPHA:84064 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches |
ORPHA:47 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Hearing impairment, Recurrent urinary tract... |
OMIM:612541 |
Trichohepatoenteric Syndrome 1 |
|
Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Generalized hypopigmentation, Brittle h... |
OMIM:222470 |
Ruvalcaba Syndrome |
|
Generalized hirsutism, Hypopigmented skin patches |
ORPHA:3121 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Frontal upsweep of hair |
OMIM:612582 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... |
OMIM:612109 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Thick hair |
ORPHA:502423 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Conductive hearing impairment, Hearing impairment, Recurrent ... |
ORPHA:244 |
Incontinentia Pigmenti |
|
Alopecia, Ridged fingernail, Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic ... |
ORPHA:464 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy, Thick hair |
OMIM:617675 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections |
OMIM:617053 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Noonan Syndrome 9 |
|
Coarctation of aorta, Prolonged prothrombin time |
OMIM:616559 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... |
ORPHA:221008 |
Oculocerebrocutaneous Syndrome |
|
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches |
ORPHA:1647 |
Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Optic atrophy, Abnormality of retinal pigmentation, Hypoplastic fingernail |
ORPHA:192 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Pigmentary retinopathy, Hypopigmentation of the skin, R... |
OMIM:219800 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Down Syndrome |
|
Brushfield spots, Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Collagenoma, Familial Cutaneous |
|
Congenital posterior occipital alopecia, Iris atrophy |
OMIM:115250 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:620565 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Abnormality iris morphology, Megalocornea |
ORPHA:370959 |
Dyskeratosis Congenita |
|
Alopecia, Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal fingernail ... |
ORPHA:1775 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
Localized Scleroderma |
|
Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia, Hyperpigm... |
ORPHA:90289 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism |
ORPHA:1352 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent fun... |
OMIM:102700 |
Rothmund-Thomson Syndrome Type 2 |
|
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... |
ORPHA:221016 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Hypertrichosis |
OMIM:266270 |
Gapo Syndrome |
|
Sparse eyebrow, Alopecia, Hypopigmented skin patches, Sparse eyelashes, Early balding |
ORPHA:2067 |
Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Cataract, Hypopigmentation of hair, Overfriendliness |
ORPHA:96169 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati... |
ORPHA:157850 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:436271 |
Usher Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:886 |
Aicardi Syndrome |
|
Optic atrophy, Sparse lateral eyebrow, Chorioretinal coloboma, Optic disc coloboma, Abnormality o... |
ORPHA:50 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation, Sparse scalp hair |
ORPHA:394 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Trisomy 8P |
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Heterochromia iridis, Astigmatism, Low posterior hairline |
ORPHA:264450 |
Hepatoerythropoietic Porphyria |
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Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Scarring alopecia of scal... |
ORPHA:95159 |
Bloom Syndrome |
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Hypopigmentation of the skin, Sparse eyelashes, Patchy alopecia, Cafe-au-lait spot, Paronychia |
ORPHA:125 |
Retinitis Pigmentosa 97 |
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Iris atrophy |
OMIM:620422 |
Neuromuscular Oculoauditory Syndrome |
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Chorioretinal lacunae, Retinal pigment epithelial mottling |
OMIM:618733 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Recurrent bacterial infections, Nail dystrophy |
OMIM:615895 |
Mucolipidosis Ii Alpha/Beta |
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Hypopigmentation of the skin, Sparse eyebrow, Sparse hair, Brittle hair |
OMIM:252500 |
Juvenile Glaucoma |
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Abnormality iris morphology, Abnormal anterior chamber morphology |
ORPHA:98977 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:96180 |
Williams Syndrome |
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Cataract, Megalocornea, Abnormal fingernail morphology, Aplasia/Hypoplasia of the iris, Overfrien... |
ORPHA:904 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Optic atrophy, Pigmentary retinopathy |
OMIM:220110 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Interrupted aortic arch, Prolonged bleeding time |
OMIM:618280 |
Galloway-Mowat Syndrome 1 |
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Hypopigmentation of the skin, Small nail |
OMIM:251300 |
Oculodentodigital Dysplasia |
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Cataract, Microcornea, Abnormality iris morphology, Fine hair, Abnormal fingernail morphology, Cu... |
ORPHA:2710 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Prolonged prothrombin time, Extramedullary hematopoiesis |
ORPHA:79303 |
Eec Syndrome |
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Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Generalized hypopigmentati... |
ORPHA:1896 |
Harrod Syndrome |
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Hypopigmented skin patches |
ORPHA:2115 |
Celiac Disease, Susceptibility To, 1 |
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Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
Patent Urachus |
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Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
Postinfectious Vasculitis |
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Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
Sympathetic Ophthalmia |
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Posterior uveitis, Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterio... |
ORPHA:79098 |
Diffuse Cutaneous Mastocytosis |
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Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Optic atrophy, Hypertrichosis, Long eyelashes, Abnormality of retinal pigmentation, Thick hair |
ORPHA:505248 |
Rothmund-Thomson Syndrome, Type 3 |
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Spotty hypopigmentation, Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair |
OMIM:615789 |
Bardet-Biedl Syndrome 1 |
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Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Hirsutism, Retinal deg... |
OMIM:209900 |
Degcags Syndrome |
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Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... |
OMIM:619488 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Multiple cafe-au-lait spots, Hypopigmented skin patches, Fine hair, Aplasia/Hypoplasia of the eye... |
ORPHA:2637 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Alopecia, Recurrent respiratory infections, Hypoplastic fingernail, Abnormal hair morphology, Hyp... |
ORPHA:2273 |
Mucopolysaccharidosis Type 3 |
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Optic atrophy, Pigmentary retinopathy, Coarse hair, Hirsutism, Generalized hirsutism, Retinal deg... |
ORPHA:581 |
Microphthalmia With Linear Skin Defects Syndrome |
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Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo... |
ORPHA:2556 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Coarctation of aorta, Prolonged prothrombin time |
OMIM:614300 |
Cystic Fibrosis |
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Hearing impairment, Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent... |
ORPHA:586 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Cafe-au-lait spot |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Cafe-au-lait spot |
ORPHA:363958 |
Infantile Liver Failure Syndrome 3 |
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Splenomegaly, Prolonged prothrombin time |
OMIM:618641 |
Mitochondrial Trifunctional Protein Deficiency |
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Pigmentary retinopathy |
ORPHA:746 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hypopigmentation of the skin, Synophrys |
OMIM:301066 |
Traboulsi Syndrome |
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Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... |
OMIM:601552 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Pigmentary retinopathy, Hypermelanotic macule |
ORPHA:90321 |
Sialuria |
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Hepatosplenomegaly, Prolonged prothrombin time |
ORPHA:3166 |
Atypical Werner Syndrome |
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Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h... |
ORPHA:79474 |
Focal Dermal Hypoplasia |
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Hypopigmentation of the skin, Supernumerary nipple, Ridged nail, Linear hyperpigmentation, Absent... |
OMIM:305600 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Leukopenia, Leukocytosis, Prolonged prothrombin time, Thrombocytosis, Anemia |
ORPHA:20 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Immunodeficiency 47 |
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Recurrent bacterial infections, Recurrent infections, Sensorineural hearing impairment |
OMIM:300972 |
Classical Ehlers-Danlos Syndrome |
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Bruising susceptibility, Aortic root aneurysm, Prolonged bleeding time, Ecchymosis |
ORPHA:287 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent viral infections, Sepsis, Severe cytomegalovirus infection, Recurrent fungal infections... |
OMIM:619573 |
Cockayne Syndrome |
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Optic atrophy, Pigmentary retinopathy, Dry hair, Retinal arteriolar constriction, Fine hair, Abno... |
ORPHA:191 |
Trisomy 18 |
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Iris coloboma, Abnormality of retinal pigmentation, Abnormal toenail morphology |
ORPHA:3380 |
Chromosome 8Q21.11 Deletion Syndrome |
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Pigmentary retinopathy |
OMIM:614230 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hematochezia, Splenomegaly, Prolonged prothrombin time |
OMIM:613812 |
Cartilage-Hair Hypoplasia |
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Sparse eyebrow, Sparse hair, Abnormality of retinal pigmentation |
ORPHA:175 |
Cog8-Cdg |
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Prolonged prothrombin time, Spontaneous hematomas |
ORPHA:95428 |
Congenital Erythropoietic Porphyria |
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Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Scarring alopecia of scal... |
ORPHA:79277 |
Williams-Beuren Syndrome |
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Small nail, Premature graying of hair, Obsessive-compulsive trait, Attention deficit hyperactivit... |
OMIM:194050 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Hypopigmentation of the skin, Melanocytic nevus, Thick eyebrow, Broad eyebrow, Abnormality of ski... |
OMIM:619475 |
Leukocyte Adhesion Deficiency |
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Sepsis, Recurrent tonsillitis, Recurrent urinary tract infections, Nail dystrophy, Otitis media, ... |
ORPHA:2968 |
Proteus Syndrome |
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Cataract, Irregular hyperpigmentation, Thymus hyperplasia, Central heterochromia, Chorioretinal c... |
ORPHA:744 |
Prader-Willi Syndrome |
|
Frontal upsweep of hair, Generalized hypopigmentation |
OMIM:176270 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Hepatosplenomegaly, Prolonged prothrombin time |
ORPHA:367 |
Cockayne Syndrome A |
|
Optic atrophy, Pigmentary retinopathy, Dry hair, Retinal pigment epithelial mottling, Retinal atr... |
OMIM:216400 |
Melas |
|
Optic atrophy, Pigmentary retinopathy, Vitiligo, Hypertrichosis |
ORPHA:550 |
Infantile Krabbe Disease |
|
Hypopigmented skin patches |
ORPHA:206436 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... |
ORPHA:91500 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,... |
ORPHA:79282 |
Hereditary Acrokeratotic Poikiloderma |
|
Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin patches, Nail dystrophy, Dyst... |
ORPHA:2907 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Cataract, Horizontal eyebrow, Ocular albinism, Abnormal eyebrow morpholo... |
ORPHA:1606 |
Abetalipoproteinemia |
|
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy |
ORPHA:14 |
Shwachman-Diamond Syndrome |
|
Recurrent bacterial infections, Recurrent viral infections, Hearing impairment, Sepsis |
ORPHA:811 |
Cockayne Syndrome B |
|
Optic atrophy, Pigmentary retinopathy, Dry hair, Hypoplasia of the iris, Abnormal hair morphology... |
OMIM:133540 |
Familial Tumoral Calcinosis |
|
Hypopigmented skin patches |
ORPHA:53715 |
Mucopolysaccharidosis Type 2 |
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Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Retinal degeneration, Abnormal f... |
ORPHA:580 |
Xeroderma Pigmentosum |
|
Alopecia, Hypopigmented skin patches, Melanocytic nevus, Freckling, Hypermelanotic macule |
ORPHA:910 |
Alstrom Syndrome |
|
Alopecia, Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy |
OMIM:203800 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Prolonged prothrombin time, Thrombocytosis |
OMIM:212065 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hypopigmented skin patches |
ORPHA:183 |
Khan-Khan-Katsanis Syndrome |
|
Highly arched eyebrow, Pigmentary retinopathy, Trichiasis |
OMIM:618460 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:255210 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections |
OMIM:232220 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Tetragametic Chimerism |
|
Hypopigmented skin patches |
ORPHA:199310 |
Alg12-Cdg |
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Prolonged prothrombin time, Decreased serum insulin-like growth factor 1, Thrombocytopenia, B lym... |
ORPHA:79324 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation |
ORPHA:466768 |
Mosaic Trisomy 20 |
|
Hypopigmented streaks, Depigmentation/hyperpigmentation of skin |
ORPHA:1724 |
X-Linked Intellectual Disability, Nascimento Type |
|
Abnormal hair whorl, Lumbar hypertrichosis, Nail dystrophy, Low posterior hairline, Generalized h... |
ORPHA:163956 |
Nijmegen Breakage Syndrome |
|
Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling |
OMIM:251260 |
Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal foveal morphology, Papi... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal foveal morphology, Papi... |
ORPHA:217093 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration |
OMIM:234200 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling |
OMIM:607459 |
Congenital Disorder Of Glycosylation, Type It |
|
Coarctation of aorta, Decreased serum insulin-like growth factor 1, Prolonged prothrombin time |
OMIM:614921 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy |
ORPHA:411629 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Optic atrophy, Cone/cone-rod dystrophy |
ORPHA:404454 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Iris coloboma |
OMIM:309801 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Abnormal bleeding, Bruising susceptibility, Lymphopenia, A... |
ORPHA:99826 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s... |
OMIM:210720 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Vitiligo, Hypermelanotic macule, Hypopigmented skin patches on arms |
OMIM:607944 |
Menkes Disease |
|
Woolly hair, Hypopigmentation of hair, Sparse hair, Sepsis |
ORPHA:565 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Sclerocornea, Abnorm... |
ORPHA:818 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time |
OMIM:613070 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy |
OMIM:277400 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
Yellow Fever |
|
Abnormal bleeding, Leukocytosis, Excessive bleeding after a venipuncture, Hematemesis, Internal h... |
ORPHA:99829 |
Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Prolonged prothrombin time |
ORPHA:96168 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Splenomegaly, Prolonged prothrombin time, Melena, Anemia |
OMIM:276700 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Trichiasis, Hypopigmentation of the skin, Nail dystrophy, Hyperpigmentation of the skin, Anonychia |
ORPHA:95455 |
Kindler Syndrome |
|
Spotty hypopigmentation, Ridged nail, Spotty hyperpigmentation |
OMIM:173650 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections |
ORPHA:79259 |
Oculocerebrorenal Syndrome Of Lowe |
|
Fine hair, Sparse scalp hair, Generalized hypopigmentation |
ORPHA:534 |
Systemic Sclerosis |
|
Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia |
ORPHA:90291 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia, Prolonged prothrombin time |
ORPHA:309854 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Generalized hypopigmentation |
OMIM:619321 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... |
OMIM:147060 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time |
ORPHA:88618 |
Pitt-Hopkins Syndrome |
|
Hypopigmented skin patches, Supernumerary nipple |
ORPHA:2896 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatosplenomegaly, Prolonged prothrombin time, A... |
ORPHA:247598 |
Sarcoidosis |
|
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:797 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia, Bleeding w... |
OMIM:619525 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin ti... |
ORPHA:90062 |
Fanconi Anemia |
|
Irregular hyperpigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Abnormality... |
ORPHA:84 |
Isolated Biliary Atresia |
|
Splenomegaly, Prolonged prothrombin time |
ORPHA:30391 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Pearson Syndrome |
|
Pigmentary retinopathy, Hyperpigmentation of the skin, Cafe-au-lait spot |
ORPHA:699 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections |
ORPHA:470 |
Cowden Syndrome |
|
Melanocytic nevus, Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:201 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy, Sparse hair, Sparse scalp hair |
OMIM:606721 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Pallister-Killian Syndrome |
|
Hyperpigmented streaks, Sparse eyebrow, Hypopigmentation of the skin, Alopecia, Supernumerary nip... |
OMIM:601803 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Prolonged prothrombin time |
OMIM:618329 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:118450 |
X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation |
ORPHA:3063 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology |
ORPHA:91387 |
Wiedemann-Rautenstrauch Syndrome |
|
Aplasia/Hypoplasia of the nails, Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia, Hi... |
ORPHA:3455 |
Sotos Syndrome |
|
Sparse anterior scalp hair, Hypopigmentation of the skin, Hyperpigmentation of the skin, Small nail |
ORPHA:821 |
Hardikar Syndrome |
|
Pigmentary retinopathy |
OMIM:301068 |
22Q11.2 Deletion Syndrome |
|
Hypopigmented skin patches |
ORPHA:567 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Primary Sclerosing Cholangitis |
|
Hepatosplenomegaly, Splenomegaly, Prolonged prothrombin time |
ORPHA:171 |
Mend Syndrome |
|
Spotty hypopigmentation |
ORPHA:401973 |
Mend Syndrome |
|
Spotty hypopigmentation |
OMIM:300960 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections |
ORPHA:642 |