X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:614072 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi... |
OMIM:614076 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Hypopigmentation of the skin, H... |
OMIM:614171 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal platelet granules, Albinism, Impa... |
OMIM:614075 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Redu... |
OMIM:619172 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi... |
OMIM:614074 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormality of the kidney, Impaired ADP-in... |
OMIM:155100 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria |
OMIM:236130 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm... |
OMIM:619165 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism |
OMIM:606952 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, M... |
OMIM:607624 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed a... |
OMIM:203300 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Nephronophthisis |
|
Abnormality of retinal pigmentation, Renal insufficiency |
ORPHA:655 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip... |
OMIM:614077 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggreg... |
OMIM:617443 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:615995 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation |
ORPHA:99000 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract |
OMIM:274205 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... |
ORPHA:33445 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Rod-cone dystrophy |
OMIM:300719 |
Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Incr... |
ORPHA:182050 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Neurofibromatosis-Noonan Syndrome |
|
Multiple cafe-au-lait spots, Prolonged bleeding time |
ORPHA:638 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyper... |
ORPHA:69125 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... |
OMIM:187900 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism |
ORPHA:2786 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Hypopigmentation of the skin |
OMIM:610798 |
Gemignani Syndrome |
|
Hypoplasia of penis, Hypopigmented skin patches |
ORPHA:2074 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... |
OMIM:618889 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock, Chorioretinal co... |
OMIM:601706 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi... |
OMIM:613091 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Abnormality of the kidney, Hypopigmented skin patches, Premature grayin... |
ORPHA:895 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Epiphyseal stippling, Cataract, Micrognathia, Hepatomegaly |
OMIM:614882 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long... |
OMIM:275400 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiphysis morphology... |
ORPHA:2310 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Griscelli Syndrome Type 1 |
|
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation |
ORPHA:79476 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Generalized hypop... |
ORPHA:1816 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially dupli... |
ORPHA:274 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Abnormal heart morphology |
DECIPHER:16 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat... |
OMIM:153670 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Chorioretinal ... |
ORPHA:2196 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Albinism... |
OMIM:608233 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy... |
ORPHA:1433 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal pl... |
ORPHA:238459 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl... |
ORPHA:54 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Petechiae, Hyperpigmentation of the skin, Retinopathy, Hypopigmentation of the... |
ORPHA:158029 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chronic kidney disease, Stage 5 chronic k... |
ORPHA:3156 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Micrognathia, Abnorma... |
ORPHA:971 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali... |
ORPHA:170 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Epistaxis, Increased mean platelet volume, Reduced platelet alpha granul... |
OMIM:314050 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Short foot, Abnormal hand morphology, Cataract, Small hand |
OMIM:300261 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged k... |
OMIM:613885 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... |
ORPHA:2251 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Progressive cataract, Abnormality of the lower limb, Dev... |
OMIM:246000 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Micropenis, Retinal degeneration |
ORPHA:3363 |
Phenylketonuria |
|
Increased level of hippuric acid in urine, Elevated urinary phenylpyruvic acid level, Blue irides... |
OMIM:261600 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Eem Syndrome |
|
Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Macular dystrophy, Retino... |
ORPHA:1897 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation |
ORPHA:67048 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Femoral-Facial Syndrome |
|
Short femur, Renal hypoplasia/aplasia, Micrognathia, Long penis, Abnormal rib morphology, Rib fus... |
ORPHA:1988 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:897 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash mo... |
ORPHA:3437 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs... |
OMIM:620076 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Reduced antigen-specific T cell proliferation, Impaired neu... |
OMIM:619374 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Micromelia, Hepatosplenomegaly |
OMIM:273680 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,... |
ORPHA:411527 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Optic atrophy, Decreased circulating ant... |
OMIM:604928 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly, Cataract |
OMIM:183800 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Short metatarsal, Flattened epiphysis, I... |
ORPHA:1856 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Micrognathia |
OMIM:618272 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Genu valgum |
ORPHA:1381 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Cataract, Hepatomegaly |
OMIM:614876 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormal bleeding, Abnormality of retinal pigmentation |
ORPHA:1117 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Decreased platelet glycoprot... |
OMIM:603585 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... |
OMIM:148820 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Optic atrophy, Ureteral at... |
ORPHA:1493 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Renal hypoplasia/aplasia, Num... |
ORPHA:2481 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy... |
OMIM:314390 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Missing ribs, Micrognathia, Nephroblastomatosis, Horseshoe kidney, Narrow pelvi... |
OMIM:608022 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Opacification of ... |
OMIM:164900 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... |
ORPHA:166011 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Intracranial hemorrhage, Abnormal optic nerve morphology, Bone marrow hy... |
ORPHA:3226 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Attenuated Chédiak-Higashi Syndrome |
|
Epistaxis, Ocular albinism, Gingival bleeding, Generalized hypopigmentation, Bruising susceptibility |
ORPHA:352723 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Aniridia And Absent Patella |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
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 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume |
OMIM:185050 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis |
OMIM:604273 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Hyperparathyroidism, Transient Neonatal |
|
Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, Thin ribs, Femoral bowi... |
OMIM:618188 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria, Attenuation of reti... |
OMIM:204000 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Macular degeneration, Generalized hyperpigmentation, Retinop... |
ORPHA:816 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Petechiae, Iris hypopigmen... |
ORPHA:79477 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal, Cataract |
ORPHA:2489 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyse... |
OMIM:614376 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal renal morphology, Transient ne... |
ORPHA:356961 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ... |
ORPHA:3320 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Ureteral duplication, Hepatomegaly, Cataract, Tapered toe, Renal insufficiency, Long-ch... |
OMIM:608836 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Pa... |
ORPHA:79430 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair |
ORPHA:1264 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Coxa valga, Metatarsus ... |
ORPHA:2557 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Long foot, Abnormal thumb morphology, ... |
ORPHA:500095 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Hypospadias, Postaxial ... |
OMIM:612651 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormality of the upper urinary tract, Highly arched eyebrow, Abnormal h... |
ORPHA:1807 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Larg... |
ORPHA:167 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hematuria, Internal hemorrhage |
ORPHA:90308 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Hypospadias, Rhizomelia, Hypoplasia of the radius, Short ... |
OMIM:607143 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Hypopigmentation of hair, Cafe-au-lait spot, Hypo... |
OMIM:618541 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Hypoplasia of the odontoid process, Small hand, Cone-shaped epiphyses of the phalanges ... |
ORPHA:85172 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Abnormality of retinal pigmentation, Nephronophthisis |
ORPHA:474 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Missing ribs, Micrognathia, Humeroradial synostosis, For... |
OMIM:251230 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology |
ORPHA:3318 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect |
OMIM:223350 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Spinocerebellar Ataxia 7 |
|
Pigmentary retinopathy, Macular degeneration, Optic atrophy |
OMIM:164500 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Abnormality of the kidney, Macular degeneration, Rod-con... |
OMIM:613464 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... |
ORPHA:381 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... |
ORPHA:324636 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... |
OMIM:214500 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1466 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Metaphyseal widening, Clubbing, Nephrotic syndrome, Flar... |
OMIM:617303 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow... |
ORPHA:168549 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Beau's lines, Leukonychia |
OMIM:234580 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia |
OMIM:600151 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen... |
OMIM:612095 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... |
OMIM:203780 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Menkes Disease |
|
Alopecia, Brittle hair, Intracranial hemorrhage, Sparse hair, Hypopigmentation of the skin |
OMIM:309400 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Micropenis, Chorioretinal atrophy |
OMIM:245800 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches, Abnormal localization of kidney |
ORPHA:1825 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Persistent pupillary membrane |
ORPHA:1067 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... |
ORPHA:56305 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Iris coloboma, Fingernail dysplasia |
ORPHA:1259 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Micrognathia, Metaphyseal widening, Megalocornea, Hepatomegaly, Hypoplasia of the o... |
OMIM:252500 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femora... |
OMIM:608940 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Abnormal r... |
ORPHA:2715 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Hydronephrosis, Abnormality of ... |
ORPHA:873 |
Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:612572 |
Zika Virus Disease |
|
Optic disc hypoplasia, Subcutaneous hemorrhage, Macular atrophy, Retinal pigment epithelial mottl... |
ORPHA:448237 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Maternal Uniparental Disomy Of Chromosome X |
|
Hypopigmentation of the skin, Low posterior hairline |
ORPHA:261519 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Joubert Syndrome 28 |
|
Pigmentary retinopathy, Optic disc pallor, Highly arched eyebrow |
OMIM:617121 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Hand polydactyly, Displace... |
ORPHA:2377 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Hypoplasia of penis, O... |
ORPHA:791 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Cataract |
ORPHA:79238 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation, Renal cell carcinoma |
ORPHA:122 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... |
ORPHA:69087 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Thrombocytopenia |
ORPHA:858 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Epistaxis, Angioid streaks of the fundus, Prolonged prothrombin time, Retinal ... |
OMIM:610842 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches |
ORPHA:3239 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Generalized hirsutism |
ORPHA:3019 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Mgat2-Cdg |
|
Abnormal bleeding, Decreased circulating antibody level, Long eyelashes, Hypoplastic nipples, Dec... |
ORPHA:79329 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Macs Syndrome |
|
Prolonged bleeding time, Alopecia, Sparse eyebrow, Urethral stenosis, Sparse hair, Bruising susce... |
OMIM:613075 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Martsolf Syndrome 2 |
|
Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Camptodactyly |
OMIM:619420 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia |
OMIM:620210 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia |
OMIM:620306 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu... |
ORPHA:464329 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Juvenile Xanthogranuloma |
|
Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation |
ORPHA:97229 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma |
ORPHA:1791 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin |
OMIM:616459 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Alopecia, Nephropathy, Purpura |
ORPHA:809 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti... |
ORPHA:364055 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail |
ORPHA:2584 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst |
OMIM:605231 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Sitosterolemia 1 |
|
Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Thrombocytopenia |
OMIM:210250 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Cataract, Micrognathia, Genu valgum, Astigmatism, Abnormal epiphysis morpho... |
ORPHA:250984 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Iris hypopigmentation |
ORPHA:834 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Metatropic Dysplasia |
|
Cataract, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Halberd-shaped pelvis, Cl... |
ORPHA:2635 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Achondrogenesis Type 2 |
|
Cataract, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short l... |
ORPHA:93296 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Spondylo-Ocular Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Congenital Varicella Syndrome |
|
Cataract, Micromelia |
ORPHA:291 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Glomerulopathy, Recurrent intrapulmonary hemorrhage, Epistaxis, Hemateme... |
ORPHA:906 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect |
OMIM:617306 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Micrognathia, Splenomegaly, Abnormality of the lower lim... |
ORPHA:3035 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Pos... |
OMIM:615986 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Functional abnormality of the bladder, Yellow/white lesions of the retina... |
ORPHA:100996 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Localized Epidermolysis Bullosa Simplex |
|
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Proximal tubulopathy, Polyuria, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Renal insufficiency, Enlargement of the ankles, Bowing of the legs, Delayed ep... |
OMIM:300554 |
Porphyria Variegata |
|
Neurogenic bladder, Chronic kidney disease, Hypertrichosis, Porphyrinuria, Increased urinary porp... |
ORPHA:79473 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Nail-Patella Syndrome |
|
Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia of first ribs, Iliac horns... |
OMIM:161200 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Waardenburg Syndrome, Type 1 |
|
Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur... |
OMIM:193500 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Recurrent urinary tract infections, Bone spicule pigmentation of the retina, Urinary incontinence... |
OMIM:609033 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:454831 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Noonan Syndrome |
|
Abnormal bleeding, Abnormal hair quantity, Melanocytic nevus, Low posterior hairline, Coarse hair... |
ORPHA:648 |
Edinburgh Malformation Syndrome |
|
Brushfield spots |
ORPHA:1895 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl... |
ORPHA:1788 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin |
OMIM:615980 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Tonne-Kalscheuer Syndrome |
|
Blue irides |
OMIM:300978 |
Dent Disease |
|
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... |
ORPHA:1652 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Cataract, Abnormality of the kidney, Genu recurvatum, Talipes, ... |
ORPHA:2611 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Foot polydactyly, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag... |
OMIM:615994 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Stage 5 chronic kidney... |
OMIM:268315 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Micromelia, Postaxial hand polydactyly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Micropenis |
ORPHA:370968 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Shox-Related Short Stature |
|
Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth... |
ORPHA:314795 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Fibula... |
OMIM:258315 |
Joubert Syndrome 3 |
|
Retinal dystrophy, Highly arched eyebrow, Stage 5 chronic kidney disease, Pigmentary retinopathy,... |
OMIM:608629 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia, Iris coloboma |
OMIM:300337 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
H Syndrome |
|
Hallux valgus, Pes planus, Abnormality of the kidney, Hepatosplenomegaly, Corneal arcus, Camptoda... |
ORPHA:168569 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Short tibia... |
ORPHA:96334 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Cafe-au-lait spot, Blue irides |
ORPHA:3041 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple |
ORPHA:1173 |
Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation |
ORPHA:231178 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F... |
ORPHA:959 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Thrombocytopenia |
ORPHA:290 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Keratoconjunctivitis sicca, Clubbing, Enlarged kidney |
ORPHA:79128 |
Cln3 Disease |
|
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Urinary bladder sphincter dysfunct... |
ORPHA:228346 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Broad long bones, Anterior rib cupping, Dumbbell-shaped long bone, Hypoplas... |
OMIM:228520 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Cataract, Micromelia, Renal hypoplasia... |
ORPHA:3258 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Noonan Syndrome 12 |
|
Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia |
OMIM:618624 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Weill-Marchesani Syndrome |
|
Short thumb, Ectopia lentis, Cataract, Brachydactyly |
ORPHA:3449 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic syndr... |
ORPHA:110 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur... |
OMIM:614105 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy... |
ORPHA:1867 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:525 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Right ventricular dilatation, B lymphocyto... |
OMIM:619705 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Optic atrophy, Pigmentary retinopathy, Hydronephrosis, Thrombocy... |
OMIM:222300 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... |
OMIM:307800 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Developmental cataract, Micr... |
OMIM:610756 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypopigmentation of hair, Retinopa... |
OMIM:219800 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, Methioninuria, Brittle hair, Homocystinuria |
OMIM:236200 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Alg9-Cdg |
|
Microretrognathia, Hepatomegaly, Hypoplasia of the bladder, Ulnar deviation of the hand, Rhizomel... |
ORPHA:79328 |
Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis |
ORPHA:90646 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Epistaxis, Increased circulating IgA level, Hematemesis, Reduced natural... |
OMIM:301000 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Chronic kidney disease, Early ossificat... |
OMIM:208500 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Horseshoe kidney, Low posterior hairline... |
OMIM:300860 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... |
OMIM:211350 |
Rhizomelic Chondrodysplasia Punctata |
|
Cataract, Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abno... |
ORPHA:177 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... |
ORPHA:829 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... |
OMIM:274000 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Missing ribs, Micro... |
OMIM:200980 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hyperpigmentation of the skin, Loss of eyelashes, Red urine, Hypopigmen... |
OMIM:263700 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Cataract, Short metatarsal, Brachydactyly |
OMIM:612463 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Porphyria Cutanea Tarda |
|
Hirsutism, Stage 5 chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Hypo... |
ORPHA:101330 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Hyperphosphaturia, Hypopigmentation of the skin, Horseshoe kidney |
OMIM:163200 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl... |
OMIM:232220 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Renal hypoplasia/aplasia, Microg... |
ORPHA:958 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... |
OMIM:208540 |
Retinitis Pigmentosa 74 |
|
Pigmentary retinopathy, Abnormal renal morphology, Optic disc pallor, Rod-cone dystrophy |
OMIM:616562 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypopigmented skin patches |
ORPHA:1784 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot... |
ORPHA:912 |
Kniest Dysplasia |
|
Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification... |
OMIM:156550 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy, Hypertrichosis |
OMIM:256000 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... |
ORPHA:169160 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Recurrent cystitis, Abnormal fingernail morphology, Low ante... |
ORPHA:742 |
Crouzon Syndrome |
|
Iris coloboma, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:207 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Noonan Syndrome 13 |
|
Cafe-au-lait spot, Blue irides, Multiple lentigines |
OMIM:619087 |
Alg3-Cdg |
|
Hypopigmentation of the skin |
ORPHA:79321 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Decreased circulating antibody level, Hypopigmentation of hair, Multip... |
ORPHA:100 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Prolonged prothrombin time, Hydroureter |
OMIM:616559 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti... |
OMIM:604278 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Abnormality of the subungual region, Internal hemorrhage, Prolonged prothrombi... |
ORPHA:335 |
Hartnup Disease |
|
Abnormal urinary color, Irregular hyperpigmentation, Hypopigmented skin patches, Neutral hyperami... |
ORPHA:2116 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold |
OMIM:108145 |
Helsmoortel-Van Der Aa Syndrome |
|
Pes planus, Recurrent urinary tract infections, Broad hallux, Sandal gap, Tapered finger, Small h... |
OMIM:615873 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, M... |
OMIM:618150 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Polycystic kidney dysplasia, Hyperpigmentation of the skin |
ORPHA:35125 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Retinopathy, Nail dysplasia |
ORPHA:773 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... |
ORPHA:436271 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Iris colo... |
OMIM:607323 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig... |
ORPHA:2719 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy, Micropenis |
OMIM:613156 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Optic atrophy, Coarse hair, Mucopolysacchariduria, Thick eye... |
ORPHA:585 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Cataract |
OMIM:617370 |
Pontocerebellar Hypoplasia, Type 7 |
|
Synophrys, Optic atrophy, Micropenis, Hypopigmentation of the skin, Hirsutism |
OMIM:614969 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Cataract, Mi... |
ORPHA:1427 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Wyburn-Mason Syndrome |
|
Iris hypopigmentation |
ORPHA:53719 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Nephroblastoma, Iris coloboma |
OMIM:253250 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Vici Syndrome |
|
Decreased circulating IgG level, Hypopigmentation of hair, Macular atrophy, Albinism, Decreased c... |
OMIM:242840 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... |
ORPHA:1969 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g... |
OMIM:308940 |
Proteus-Like Syndrome |
|
Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentation, Heterochromia i... |
ORPHA:2969 |
Curry-Jones Syndrome |
|
Iris coloboma, Optic disc coloboma, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Optic atrophy, Abnormal localization of... |
ORPHA:2510 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Decreased circulating antibod... |
ORPHA:79396 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Megacystis, Blue irides, Nail pit... |
OMIM:604292 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... |
OMIM:614868 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatomegaly, Hypospadias, Short greater sc... |
OMIM:312870 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Prolonged prothrombin time, Dicarboxylic aciduria, Pigmentary retinopathy |
ORPHA:71212 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Hypoplasia of the i... |
OMIM:251300 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hypospadias, Hypopigmented skin patches, Cafe-au-lait spot, Decreased circulating IgA... |
ORPHA:457485 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp |
OMIM:618373 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Hypospadias, Thrombocytosis, Increased mean platelet volume, Woolly hai... |
OMIM:222470 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Choroidal neovascularization, Renal interstitial edema, Sterile pyur... |
ORPHA:91500 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration |
ORPHA:79264 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... |
OMIM:220110 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... |
ORPHA:85451 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Ruvalcaba Syndrome |
|
Hematuria, Generalized hirsutism, Hypopigmented skin patches, Abnormal localization of kidney |
ORPHA:3121 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... |
OMIM:260660 |
Dahlberg-Borer-Newcomer Syndrome |
|
Renal insufficiency, Cataract, Nephropathy, Short distal phalanx of finger, Brachydactyly |
ORPHA:1563 |
Intellectual Disability And Myopathy Syndrome |
|
Cafe-au-lait spot, Spotty hypopigmentation |
OMIM:619719 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Nephrocalcinosis, Pigmentary retinopathy, Perifoveal ring of hyperautofluorescence, Nai... |
OMIM:240300 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of penis, Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys |
ORPHA:1295 |
Angelman Syndrome |
|
Optic disc pallor, Optic atrophy, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:72 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Pigmentary retinopathy |
ORPHA:3208 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Anisocoria |
OMIM:619649 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Recurrent urinary tract infections, Down-sloping shoulders, Aplastic c... |
ORPHA:198 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Cataract, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly o... |
ORPHA:90652 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Bone marrow hypocell... |
ORPHA:3322 |
Xeroderma Pigmentosum, Complementation Group C |
|
Freckling, Hypopigmentation of the skin |
OMIM:278720 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Micromelia, Femoral retroversion, Cataract |
ORPHA:79107 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Omodysplasia 2 |
|
Short humerus, Hypospadias, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomel... |
OMIM:164745 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Cataract, Missing ribs, Micrognathia, Abnormal rib morphology, Micr... |
ORPHA:3301 |
Bloom Syndrome |
|
Spotty hypopigmentation, Hypertrichosis, Decreased circulating total IgM, Cafe-au-lait spot, Decr... |
OMIM:210900 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volume, Woolly ha... |
ORPHA:84064 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor |
ORPHA:216866 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Sparse eyelashes, Paronychia, Decreased circulating antibody ... |
ORPHA:125 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hypopigmented skin patches, Hypopigmentation of the skin, Hydronephrosis |
ORPHA:96061 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Cataract, Brachydactyly |
OMIM:247410 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion, Cataract |
OMIM:607371 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Scarring alopecia of scalp, Loss of eyelashes, Red urine, Red-brown urine, Fac... |
ORPHA:95159 |
X-Linked Agammaglobulinemia |
|
Agammaglobulinemia, Alopecia, Hypopigmented skin patches, Thrombocytopenia |
ORPHA:47 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Hypopigmentation of the skin, Optic neuropathy |
OMIM:620237 |
Relapsing Fever |
|
Abnormal bleeding, Epistaxis, Hematuria, Prolonged prothrombin time, Abnormality of the urinary s... |
ORPHA:91547 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension |
OMIM:620365 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Werner Syndrome |
|
Renal neoplasm, Abnormality of retinal pigmentation, Sparse scalp hair, Abnormal hair whorl, Prem... |
ORPHA:902 |
Marshall Syndrome |
|
Radial bowing, Cataract, Coxa valga, Hypoplastic ilia, Lens luxation, Ulnar bowing, Irregular fem... |
OMIM:154780 |
Noonan Syndrome 4 |
|
Blue irides |
OMIM:610733 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndr... |
ORPHA:2968 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Ureterocele, Sparse hair, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Blue irides, Nail pi... |
OMIM:129900 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity |
OMIM:613988 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Sneddon Syndrome |
|
Lymphopenia, Bicuspid aortic valve |
OMIM:182410 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Heterochromia iridis... |
ORPHA:3205 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... |
OMIM:612541 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho... |
ORPHA:193 |
Hermansky-Pudlak Syndrome 4 |
|
Ocular albinism, Albinism |
OMIM:614073 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of nail color |
ORPHA:1824 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Ho... |
OMIM:306955 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Nail-Patella Syndrome |
|
Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign |
ORPHA:2614 |
Kearns-Sayre Syndrome |
|
Renal tubular acidosis, Renal Fanconi syndrome, Pigmentary retinopathy |
OMIM:530000 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Micropenis, Hypo... |
OMIM:176270 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of... |
OMIM:120330 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:3453 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Postaxial foot polydactyl... |
ORPHA:139471 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Micropenis, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Aplasia of the... |
ORPHA:2879 |
Incontinentia Pigmenti |
|
Retinal detachment, Alopecia, Hypoplastic fingernail, Abnormal chorioretinal morphology, Abnormal... |
ORPHA:464 |
Mucopolysaccharidosis, Type Ii |
|
Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Dermatan su... |
OMIM:309900 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Splenomegaly, Oliguria, St... |
ORPHA:731 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma |
OMIM:214100 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Cataract |
OMIM:146200 |
Ogden Syndrome |
|
Microretrognathia, Global glomerulosclerosis, Congenital hip dislocation, Broad hallux, Sandal ga... |
OMIM:300855 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ab... |
ORPHA:233 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Cataract, Hypospadias, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ect... |
OMIM:615877 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Abnormality of the kidney, Stellate iris, Hypopigmentation of the skin,... |
ORPHA:177907 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Decreas... |
ORPHA:90362 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... |
ORPHA:49566 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti... |
ORPHA:99147 |
Pseudohypoparathyroidism Type 1A |
|
Low urinary cyclic AMP response to PTH administration, Abnormal platelet function |
ORPHA:79443 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Renal insufficiency, Alopecia, Tubulointerstitial nephritis, Pigmentary ... |
OMIM:203800 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Hypopigmen... |
ORPHA:183 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Pes planus, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Spherophakia, A... |
OMIM:601552 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy... |
ORPHA:678 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hypopigmented skin patches |
ORPHA:2115 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Koolen-De Vries Syndrome |
|
Fair hair, Cataract, Iris hypopigmentation |
OMIM:610443 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
ORPHA:88628 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Optic atrophy, Hypopigmented skin patc... |
ORPHA:2067 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Pigmentary retinopathy |
ORPHA:79095 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,... |
ORPHA:508542 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone... |
ORPHA:549 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail... |
ORPHA:2909 |
Eec Syndrome |
|
Hypospadias, Slow-growing hair, Renal hypoplasia/aplasia, Sparse eyebrow, Nail pits, Fine hair, U... |
ORPHA:1896 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn... |
ORPHA:1775 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Hypospadias, Abnormality of hair pigmentation |
OMIM:618156 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Iris coloboma |
ORPHA:1647 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a... |
OMIM:216550 |
Joubert Syndrome 8 |
|
Pigmentary retinopathy, Optic disc pallor |
OMIM:612291 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma |
OMIM:614866 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Micropenis, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
Mismatch Repair Cancer Syndrome 1 |
|
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin |
OMIM:276300 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Macular coloboma, Hemolytic-uremic syndrome, Subd... |
ORPHA:79282 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Prolonged prothrombin time... |
OMIM:613070 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Distichiasis |
OMIM:600462 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... |
OMIM:243150 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Large hands, Long f... |
ORPHA:508 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Abnormality of the kidney, Hypopigmented skin patches, Patchy al... |
ORPHA:90289 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess |
OMIM:612852 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Blue irides, Melanocytic nevus |
OMIM:101800 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Micrognathia, Bilateral renal hypoplasia, Preaxial polydactyly, Microcorn... |
OMIM:243605 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Breast hypoplasia |
ORPHA:2235 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy, Myoglobinuria |
OMIM:609015 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Retinal pigment epithelial mottling, Multiple ren... |
OMIM:618733 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Retinal detachment, Sparse scal... |
ORPHA:394 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Linear hyperpigmentation, Brittle hair, Absent fingernail, Cho... |
OMIM:305600 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... |
ORPHA:1572 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Recurrent urinary tract infections, Hypopigmentation of hair, Hyposp... |
OMIM:619488 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Microcornea, Heterochromia iridis, Iris coloboma |
ORPHA:2995 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Fair hair, Hypospadias, Alopecia, Intraventricular hemorrhage... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Fair hair, Hypospadias, Alopecia, Intraventricular hemorrhage... |
ORPHA:363958 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ... |
ORPHA:221008 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphopenia |
OMIM:605309 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Short metacarpal, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Short... |
OMIM:608328 |
Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... |
OMIM:267750 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... |
OMIM:127550 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Pigmentary retinopathy, Optic atrophy, Optic disc pallor |
OMIM:617282 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... |
ORPHA:93357 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Optic atrophy, Retinal dyspl... |
OMIM:613154 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnor... |
ORPHA:636 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Dysgammaglobulinemia, Retinal pigment epithelial mottling, Pr... |
OMIM:251260 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Frontal upsweep of hair |
OMIM:612582 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... |
OMIM:615934 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ... |
OMIM:304120 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ... |
ORPHA:221016 |
Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar... |
ORPHA:191 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band kerat... |
OMIM:118450 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy |
ORPHA:90321 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Cataract, Rhizomelia, Aplastic clavicle, Micrognathia... |
ORPHA:50945 |
Melas |
|
Proteinuria, Optic atrophy, Hypertrichosis, Focal segmental glomerulosclerosis, Pigmentary retino... |
ORPHA:550 |
Abetalipoproteinemia |
|
Abnormal bleeding, Abnormality of retinal pigmentation, Prolonged prothrombin time, Rod-cone dyst... |
ORPHA:14 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Sparse scalp hair, Proteinuria, Chorioretinal dysplasia, Abn... |
ORPHA:534 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Dilated cardiomyopat... |
OMIM:615688 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Pigmentary retinopathy, Thick hair, Optic disc pallor |
ORPHA:502423 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Micrognathia, Splenomegaly, Renal hyp... |
OMIM:617913 |
Systemic Sclerosis |
|
Renal insufficiency, Alopecia, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Nail b... |
ORPHA:90291 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Cataract, Bowed humerus, Tarsal synost... |
OMIM:272460 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration |
ORPHA:48818 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal preputium morphology, Abnormality of the urethra, Hypopigmented skin patches, Gingival b... |
ORPHA:2907 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy, Thick hair |
OMIM:617675 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Neurogenic bladder, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis... |
ORPHA:3404 |
Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Abnormality of retinal pigmentation, Optic atrophy, Hypoplastic fingernail |
ORPHA:192 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, 2-3 toe syndactyly, Patent urachus, Micropenis, Enlarged kidney |
OMIM:618280 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Hypopigmented skin patches |
ORPHA:53715 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Hypospadias, Chorioretinal dyspla... |
ORPHA:2556 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Renal hypoplasia, Generalized... |
OMIM:619321 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Highly arched eyebrow, Trichiasis, Renal hypoplasia, Renal cyst, Pigmentary... |
OMIM:618460 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time, Acute kidney injury... |
ORPHA:244242 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis |
OMIM:609136 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Neuroocular Syndrome |
|
Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Peters anomaly, Stellate iri... |
OMIM:619539 |
Craniorachischisis |
|
Bifid sternum, Sirenomelia |
ORPHA:63260 |
Monosomy 13Q34 |
|
Epistaxis, Fetal pyelectasis, Hematochezia, Prolonged prothrombin time, Horizontal eyebrow |
ORPHA:96168 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Rod-cone dystrophy, Renal cyst, Nephrotic syndrome, Prolonged prothrombin time, Prox... |
OMIM:212065 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Abnormality of the kidney, Hyperautof... |
OMIM:209900 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Purpura, Hypermelanotic macule, Autoimmune thrombocytopenia, Hypopigmented skin patches on arms, ... |
OMIM:607944 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Mosaic Trisomy 20 |
|
Depigmentation/hyperpigmentation of skin, Hypopigmented streaks, Abnormality of the kidney, Horse... |
ORPHA:1724 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Optic a... |
OMIM:618329 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Prolonged prothrombin time, Renal cyst |
ORPHA:79303 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Tetragametic Chimerism |
|
Micropenis, Hypopigmented skin patches, Perineal hypospadias |
ORPHA:199310 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia, Cerebellar hemorrhage, Dicarboxylic aciduria, Prolonged prothrombin time |
ORPHA:99901 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ... |
ORPHA:2637 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu... |
ORPHA:3243 |
Usher Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:886 |
Infantile Krabbe Disease |
|
Cherry red spot of the macula, Optic atrophy, Hypopigmented skin patches |
ORPHA:206436 |
Cockayne Syndrome A |
|
Renal insufficiency, Retinal atrophy, Proteinuria, Dry hair, Retinal pigment epithelial mottling,... |
OMIM:216400 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Renal neoplasm, Abnormality of retinal pigmentation, Alopecia, Abnormal h... |
ORPHA:79474 |
Kinsship Syndrome |
|
Pes planus, Coxa valga, Micrognathia, Hip dislocation, Renal hypoplasia, Fibular hypoplasia, Hors... |
OMIM:619297 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Limbal dermoid, Vesicoureteral reflux, ... |
ORPHA:857 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... |
ORPHA:157850 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Hepatomegaly, Rhizomelia, Broad distal phalanges of all ... |
OMIM:218330 |
Charge Syndrome |
|
Hypoplasia of the ulna, Cataract, Renal agenesis, Down-sloping shoulders, Micrognathia, Absent ra... |
OMIM:214800 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation |
OMIM:615789 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Generalized aminoaciduria, Pigmentary ... |
ORPHA:404454 |
Classical Ehlers-Danlos Syndrome |
|
Ecchymosis, Bladder diverticulum, Prolonged bleeding time, Bruising susceptibility |
ORPHA:287 |
Mucopolysaccharidosis Type 3 |
|
Thick hair, Heparan sulfate excretion in urine, Synophrys, Optic atrophy, Hirsutism, Pigmentary r... |
ORPHA:581 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Chromomycosis |
|
Hypopigmented skin patches |
ORPHA:182 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Thrombocytopenia |
ORPHA:64743 |
Cockayne Syndrome B |
|
Renal insufficiency, Dry hair, Proteinuria, Abnormal hair morphology, Optic atrophy, Abnormality ... |
OMIM:133540 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Hypopigmentation of the skin |
OMIM:301066 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Abnormality of the upper urinary tract, Hydronephrosis, Abno... |
ORPHA:3380 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad eyebrow, Hypospadias, Synophrys, Melanocytic nevus, Hematuria, Abnormality of skin pigmenta... |
OMIM:619475 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Thrombocytopenia, Lacticaciduria, Renal cyst, Pigmentary retino... |
ORPHA:699 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Sparse eyebrow, Decreased circulating antibody level, Mucopo... |
ORPHA:175 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a... |
ORPHA:391487 |
Brittle Cornea Syndrome |
|
Retinal detachment, Bruising susceptibility, Abnormality of hair pigmentation |
ORPHA:90354 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Knee flexion contracture, Epiphyseal stippling, Talipes equinovarus |
OMIM:118650 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
Xeroderma Pigmentosum |
|
Alopecia, Hypermelanotic macule, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Am... |
ORPHA:910 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Trichiasis, Renal tubular epithelial necrosis, Hematuria, Ano... |
ORPHA:95455 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time, Abnormality of hair texture |
ORPHA:88618 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortical cataract,... |
ORPHA:67036 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Micropenis |
OMIM:614230 |
Alg12-Cdg |
|
Retinal detachment, Hypospadias, Partial absence of specific antibody response to Haemophilus inf... |
ORPHA:79324 |
Sarcoidosis |
|
Renal insufficiency, Alopecia, Thrombocytopenia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
ORPHA:797 |
Oculoauricular Syndrome |
|
Cataract, Short mandibular rami, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Po... |
OMIM:612109 |
Hermansky-Pudlak Syndrome 10 |
|
Ocular albinism, Albinism |
OMIM:617050 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Thrombocytopenia |
OMIM:616271 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Optic atrophy, Lacticaciduria, Pigmentary retinopathy, Rod-cone dystro... |
ORPHA:255210 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time |
OMIM:614300 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism |
ORPHA:1352 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Hypospadias, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigment... |
ORPHA:163956 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Sialuria |
|
Prolonged prothrombin time |
ORPHA:3166 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri... |
OMIM:609049 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperpigmentation of the skin, Urinary incontinence, Optic atrophy, Pigmentary retinopathy, Retin... |
OMIM:234200 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st... |
ORPHA:2306 |
Trisomy 8P |
|
Astigmatism, Heterochromia iridis |
ORPHA:264450 |
Infantile Liver Failure Syndrome 3 |
|
Prolonged prothrombin time |
OMIM:618641 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgA level |
OMIM:212750 |
Ramon Syndrome |
|
Pigmentary retinopathy, Optic disc pallor, Hypertrichosis |
OMIM:266270 |
Whim Syndrome |
|
Lymphadenitis, Tetralogy of Fallot, Abnormal neutrophil morphology, Neutropenia, Lymphopenia |
ORPHA:51636 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... |
ORPHA:744 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time |
ORPHA:367 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation, Urinary incontinence |
ORPHA:466768 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Macronodular c... |
OMIM:620005 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Renal agenesis, Camptodactyly of finger, Micromelia, Renal hypoplasia/aplasia,... |
ORPHA:2753 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopath... |
OMIM:300373 |
Kindler Syndrome |
|
Ridged nail, Phimosis, Urethral stenosis, Spotty hypopigmentation, Spotty hyperpigmentation |
OMIM:173650 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Pigmentary retinopathy, Chordee, Micropenis, Iris coloboma |
OMIM:309801 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:613812 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Micromelia, Micrognathia, Preaxial hand po... |
ORPHA:93271 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h... |
OMIM:210720 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia |
OMIM:613471 |
Down Syndrome |
|
Brushfield spots |
OMIM:190685 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time, Aminoaciduria |
OMIM:619055 |
Kasabach-Merritt Syndrome |
|
Purpura, Petechiae, Prolonged prothrombin time, Thrombocytopenia, Hypertrichosis |
ORPHA:2330 |
Williams Syndrome |
|
Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Megalocornea... |
ORPHA:904 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Abnormal fo... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormality of retinal pigmentation, Papilledema, Heparan sulfate excretion in urine, Abnormal fo... |
ORPHA:217093 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypospadias, Impaired T cell function, Abnormality of thrombocytes, ... |
ORPHA:567 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Cowden Syndrome |
|
Abnormal penis morphology, Abnormality of the kidney, Hypopigmented skin patches, Melanocytic nev... |
ORPHA:201 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time, Oroticaciduria |
OMIM:311250 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Thrombocytosis, Prolonged prothrombin time, 3-Methylglutaric aciduria, Ketonuria |
ORPHA:20 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Prolonged prothrombin time, Thrombocytopenia |
OMIM:267700 |
Mucopolysaccharidosis Type 2 |
|
Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Optic atrophy, Reti... |
ORPHA:580 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Prolonged prothrombin time, Thrombocytopenia, Reduced natural killer cell activity |
OMIM:603553 |
Congenital Disorder Of Glycosylation, Type It |
|
Prolonged prothrombin time, Hydronephrosis |
OMIM:614921 |
Yellow Fever |
|
Abnormal bleeding, Renal insufficiency, Anuria, Excessive bleeding after a venipuncture, Hemateme... |
ORPHA:99829 |
Pitt-Hopkins Syndrome |
|
Micropenis, Hypopigmented skin patches, Supernumerary nipple |
ORPHA:2896 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling |
OMIM:607459 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Intracranial hemorrhage, Spontaneous hemat... |
ORPHA:565 |
Shwachman-Diamond Syndrome 2 |
|
Prolonged prothrombin time, Thrombocytopenia |
OMIM:617941 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair |
ORPHA:1974 |
Isolated Biliary Atresia |
|
Prolonged prothrombin time, Dark yellow urine |
ORPHA:30391 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Tapered fin... |
OMIM:303600 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Micrognathia, Small hand, Fibular hypoplasia, Horseshoe kidney, Hypoplasia... |
ORPHA:444077 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Pericardial effusion, Splenomegaly,... |
ORPHA:99827 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation |
ORPHA:3063 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Increased urinary glycerol, Ketonuria, Decreased ... |
ORPHA:247598 |
Mend Syndrome |
|
Crossed fused renal ectopia, Macular hypoplasia, Spotty hypopigmentation |
OMIM:300960 |
Williams-Beuren Syndrome |
|
Premature graying of hair, Blue irides |
OMIM:194050 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse hair, Pigmentary retinopathy, Sparse scalp hair, Polyuria |
OMIM:606721 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Renal insufficiency, Excessive bleeding after a venipuncture, Thrombocytopenia... |
ORPHA:99826 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Recurrent urinary tract infections, Hypospadias, Optic disc hypoplasia, Synoph... |
ORPHA:3455 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Hypospadias, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow,... |
OMIM:601803 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... |
ORPHA:90062 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Prolonged prothrombin time, Blee... |
OMIM:619525 |
Primary Sclerosing Cholangitis |
|
Renal insufficiency, Prolonged prothrombin time, Polyclonal elevation of IgM |
ORPHA:171 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Prolonged prothrombin time |
ORPHA:309854 |
Mend Syndrome |
|
Spotty hypopigmentation |
ORPHA:401973 |
1P36 Deletion Syndrome |
|
Cataract, Ocular albinism |
ORPHA:1606 |