Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hydrocephalus, Hepatomegaly, Splenomegaly, Pallor, Hydrops fetalis, Preeclam... |
ORPHA:163596 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... |
ORPHA:766 |
Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Anemia, Thrombocytopenia, Increased nuchal translucency, Ascites |
ORPHA:295 |
Transaldolase Deficiency |
|
Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Edema, Premature skin wrinkling, Anemia, Thromboc... |
ORPHA:101028 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... |
ORPHA:846 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... |
OMIM:615234 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Anemia, Thrombocytopenia, Premature birth, Ascites |
ORPHA:2123 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Microphthalmia, Agenesis o... |
ORPHA:139471 |
Sialidosis Type 2 |
|
Corneal opacity, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Hydrops fetalis, Pedal ... |
ORPHA:87876 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... |
OMIM:615631 |
Alg8-Cdg |
|
Cutis laxa, Retinopathy, Oligohydramnios, Hydrops fetalis, Optic atrophy, Elevated hepatic transa... |
ORPHA:79325 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Iris coloboma, Macular hypoplasia, Colpocephaly |
ORPHA:2185 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma |
OMIM:613703 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Hydrops fetalis, Ascites, Prem... |
OMIM:269920 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Nonimmune... |
OMIM:266200 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Optic disc pallor, Degenerative liver disease, Cone dystrophy |
OMIM:268040 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Walker-Warburg Syndrome |
|
Corneal opacity, Hydrocephalus, Retinal detachment, Anophthalmia, Microcornea, Retinal dystrophy,... |
ORPHA:899 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Facial edema, Splenomegaly, Cherry red spot of the macula, ... |
OMIM:256550 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Manitoba Oculotrichoanal Syndrome |
|
Abnormal hair morphology, Anophthalmia, Microphthalmia |
OMIM:248450 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Mulibrey Nanism |
|
Hepatomegaly, Hydrops fetalis, Pigmentary retinopathy, Astigmatism, Iris coloboma, Corneal dystro... |
OMIM:253250 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Peripheral Cone Dystrophy |
|
Pallor, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Agenesis of corpus callosum, Microphthalmia |
OMIM:164180 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... |
OMIM:224120 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Iris hypopigmentation, Skin ulcer, Ascites |
ORPHA:834 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of the spleen, Neonatal death, Pancytope... |
ORPHA:85212 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Pallor, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy |
OMIM:610381 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hepatic failure, Leukopenia, Hydrops fetalis, Cholestasis, Abnormal macrophage morp... |
ORPHA:292 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Hepatomegaly, Abnormality of the amniotic fluid, Splenomegaly |
OMIM:608540 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Anophthalmia, Iris coloboma, Microphthalmia, Agenesis of corpus... |
ORPHA:77298 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Pallor, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atr... |
OMIM:613750 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Microcornea, Coloboma |
OMIM:251505 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Coloboma |
OMIM:274270 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... |
ORPHA:848 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Retinitis Pigmentosa 42 |
|
Pallor, Rod-cone dystrophy |
OMIM:612943 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Hydrops fetalis, Fetal akinesia sequence, Developmental cataract |
OMIM:618815 |
X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Trisomy 13 |
|
Abnormal retinal vascular morphology, Hydrops fetalis, Anophthalmia, Optic atrophy, Iris coloboma... |
ORPHA:3378 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Portal hypertens... |
OMIM:232500 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... |
OMIM:557000 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... |
ORPHA:824 |
Retinitis Pigmentosa 60 |
|
Pallor, Rod-cone dystrophy |
OMIM:613983 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Hydrolethalus |
|
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Arrhinencephaly, Anophthalmia, Polyhydra... |
ORPHA:2189 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Poi... |
ORPHA:288 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Low anterior hairline, Thick eyebrow, Anophthalmia, Long eyelashes, Synophrys |
ORPHA:411986 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Macular hypoplasia, Opacification... |
ORPHA:2334 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ... |
ORPHA:507 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Hydrops fetalis, Microcytic anemia, Edema, Ascites |
ORPHA:90308 |
Farber Disease |
|
Joint swelling, Corneal opacity, Macular degeneration, Hepatic failure, Cherry red spot of the ma... |
ORPHA:333 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Splenomegaly, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:2414 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... |
OMIM:231100 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema, Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Coach Syndrome 2 |
|
Hydrocephalus, Congenital hepatic fibrosis, Coloboma, Elevated hepatic transaminase, Hepatic fibr... |
OMIM:619111 |
Optic Atrophy 9 |
|
Pallor, Optic atrophy |
OMIM:616289 |
Acute Peripheral Arterial Occlusion |
|
Pallor, Leukocytosis |
ORPHA:90064 |
Trisomy 1Q |
|
Hydrocephalus, Hydrops fetalis, Anophthalmia, Agenesis of corpus callosum, Polyhydramnios, Increa... |
ORPHA:261344 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Pallor, Optic nerve hypoplasia, Astigmatism, Neutropenia, Colpocephaly, Agenesis ... |
OMIM:609053 |
Retinitis Pigmentosa 70 |
|
Pallor, Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... |
ORPHA:231222 |
Foveal Hypoplasia 2 |
|
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Foveal hyperpigmentation, Optic... |
OMIM:609218 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalm... |
ORPHA:324416 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Pallor, Retinal dystrophy, Optic atrophy, Thrombocytopenia |
ORPHA:49827 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:616738 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... |
OMIM:600462 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... |
OMIM:194380 |
Achondrogenesis, Type Ib |
|
Hydrops fetalis, Polyhydramnios, Edema, Stillbirth, Breech presentation |
OMIM:600972 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Abnormality of retinal pigmentation, Hepatomegaly, Elevated hepatic transaminase, ... |
ORPHA:858 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract, Neonatal death |
OMIM:273680 |
Oculotrichoanal Syndrome |
|
Abnormal hair pattern, Anophthalmia, Microphthalmia |
ORPHA:2717 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Anemia, Hydrops fetalis, Single umbilical artery |
ORPHA:3405 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microcornea, Retinal dystrophy, Coloboma, Cataract, Microph... |
OMIM:610125 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophi... |
ORPHA:3226 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth |
OMIM:215045 |
Indomethacin Embryofetopathy |
|
Oligohydramnios, Hydrops fetalis, Premature birth |
ORPHA:1909 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Coloboma |
OMIM:614497 |
Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly, Anophthalmia, Coloboma, Cyclopia, Microphthalmia |
OMIM:147250 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Pallor, Anisocytosis,... |
OMIM:616959 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hydrops fetalis, Hepatomegaly, Ascites |
OMIM:619433 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Fumarase Deficiency |
|
Hepatic failure, Polycythemia, Pallor, Cholestasis, Optic atrophy, Agenesis of corpus callosum |
OMIM:606812 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cutis laxa, Dry skin, Coloboma, Optic atrophy, Elevated hepatic transaminase, Microcytic anemia, ... |
OMIM:612379 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Nonimmune hydrops fet... |
OMIM:608013 |
Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Macular dystrophy, Aplasia/Hypoplasia of the macula, Abnormality of the optic nerve |
ORPHA:33445 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor, Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Anophthalmia Plus Syndrome |
|
Iris coloboma, Spina bifida, Anophthalmia |
ORPHA:1104 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Hydrocephalus, Retinal detachment, Coloboma, Cataract, Microphthalmia, Agenesis ... |
OMIM:613153 |
Leber Congenital Amaurosis 14 |
|
Pallor, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Anemia, Pericardial ... |
OMIM:617300 |
Microphthalmia, Syndromic 3 |
|
Hypothalamic hamartoma, Optic nerve hypoplasia, Anophthalmia, Coloboma, Cataract, Microphthalmia,... |
OMIM:206900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Hydrocephalus, Retinal degeneration, Buphthalmos, Pallor, Megalocornea,... |
OMIM:253280 |
Optic Atrophy 1 |
|
Pallor, Optic atrophy |
OMIM:165500 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Hydrops fetalis, Iris coloboma, Microphthalmia, Agenesis of corpus callosum, Chori... |
ORPHA:268249 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Neonatal death, Redundant neck skin |
OMIM:619003 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Choroidal neovascularization, Retinal pigment epithelial mottling, H... |
ORPHA:97341 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Srd5A3-Cdg |
|
Rod-cone dystrophy, Coloboma, Optic atrophy, Elevated hepatic transaminase, Microcytic anemia, Ca... |
ORPHA:324737 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of the fundus, Blue irides, Macular hypoplasia |
OMIM:606574 |
Meckel Syndrome |
|
Hydrocephalus, Pancreatic fibrosis, Oligohydramnios, Accessory spleen, Sclerocornea, Microcornea,... |
ORPHA:564 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Optic atrophy, Iris coloboma, Macular hypoplasia, Colpocephaly |
OMIM:615219 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia, Chylothorax, Retinopathy, Retinal detachment... |
ORPHA:2526 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Achondrogenesis |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis |
ORPHA:932 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Anemia, Premature birth |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Anemia, Premature birth |
OMIM:618839 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Abnormal retinal morphology |
ORPHA:2786 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Abnormality iris morphology, Cataract, Coloboma |
ORPHA:1617 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis |
ORPHA:93298 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Anophthalmia, Pigmentary retinopathy, Optic atrophy, Elevated hepatic transaminase,... |
ORPHA:90321 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis |
ORPHA:93299 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Nonimmune... |
ORPHA:367 |
Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema... |
OMIM:620014 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Edema, Neutropenia, Anemia, Thrombocytope... |
OMIM:603552 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Retinitis Pigmentosa 73 |
|
Pallor, Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Campomelia, Cumming Type |
|
Aplasia/Hypoplasia affecting the eye, Hepatomegaly, Hydrops fetalis, Abnormality of the pancreas,... |
ORPHA:1318 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope... |
ORPHA:1959 |
Mosaic Trisomy 9 |
|
Spina bifida, Corneal opacity, Abnormal liver lobulation, Hydrops fetalis, Polyhydramnios, Microp... |
ORPHA:99776 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elevated hepatic transam... |
ORPHA:98870 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia |
OMIM:610023 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Thrombocytopeni... |
ORPHA:290 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Hydrocephalus, Retinal degeneration, Abnormality of macular pigmentation, D... |
ORPHA:79282 |
Gm1 Gangliosidosis |
|
Retinopathy of prematurity, Corneal opacity, Abnormal retinal vascular morphology, Cherry red spo... |
ORPHA:354 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... |
ORPHA:300298 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Conjunctivitis, Developmental cataract, Anophthalmia |
ORPHA:90322 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:1263 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Sparse eyebrow, Sparse eyelashes |
ORPHA:66625 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Coloboma |
OMIM:120433 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Microphthalmia With Limb Anomalies |
|
Abnormal hair morphology, Anophthalmia, Microphthalmia |
OMIM:206920 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Isolated Aniridia |
|
Peters anomaly, Aniridia, Cataract, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Ascites |
ORPHA:584 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Corneal stromal edema... |
ORPHA:699 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Retinal degeneration, Abnormally large globe, Coloboma, Cataract, Microphthalmia, ... |
OMIM:615249 |
Frontonasal Dysplasia 1 |
|
Coloboma, Cranium bifidum occultum, Cataract, Microphthalmia, Anterior basal encephalocele, Agene... |
OMIM:136760 |
Congenital Sialidosis Type 2 |
|
Corneal opacity, Hydrocephalus, Hepatomegaly, Petechiae, Cherry red spot of the macula, Hepatospl... |
ORPHA:93400 |
Galactosialidosis |
|
Cherry red spot of the macula, Hepatosplenomegaly, Nonimmune hydrops fetalis, Opacification of th... |
OMIM:256540 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Anophthalmia, Microcornea, Coloboma, Cataract, Microphthalmia, Sclerocornea |
OMIM:615877 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Maternal diabetes, Fetal distress |
ORPHA:45452 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Caesarian ... |
ORPHA:90051 |
Minicore Myopathy With External Ophthalmoplegia |
|
Polyhydramnios, Hydrops fetalis, Decreased fetal movement |
OMIM:255320 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Hydrops fetalis |
OMIM:230500 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Abnormal retinal vascular morphology, Splenomegaly, Pallor, Normocytic anemia, Reti... |
ORPHA:33226 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Microgastria-Limb Reduction Defects Association |
|
Splenogonadal fusion, Arrhinencephaly, Anophthalmia, Biliary tract abnormality, Absent gallbladde... |
OMIM:156810 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Maternal diabetes, Hepatomegaly |
ORPHA:276580 |
Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular... |
OMIM:612109 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... |
ORPHA:35858 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Hydrocephalus, Hepatomegaly, Splenomegaly, Hydrops fetalis |
OMIM:253220 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia, Hepatomegaly |
OMIM:246450 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Optic atrophy, Optic disc pallor |
OMIM:612989 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hydrops fetalis, Elevated circulating aspartate aminotransferase concentration, Prenatal maternal... |
OMIM:609015 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Elliptocytosis 1 |
|
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice |
OMIM:611804 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Maternal diabetes, Hepatomegaly |
ORPHA:324575 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Rod-cone dystrophy, Pallor, Attenuation of retinal blood vessels, Bone spic... |
OMIM:613464 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatomegaly, Pallor, Eosinophilia, Hepatosplenomegaly, Abnor... |
ORPHA:331206 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Nonimmune hydrops fetalis, Premature birth |
OMIM:618838 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcornea, Coloboma |
OMIM:300915 |
Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Retinopathy, Iris coloboma, Cataract |
ORPHA:2611 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Coloboma |
OMIM:616490 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Single umbilical artery |
OMIM:616897 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia |
ORPHA:276575 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Familial Benign Copper Deficiency |
|
Anemia, Early balding, Aplasia/Hypoplasia of the fovea |
ORPHA:1551 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Megalocornea, Retinal detachment, Coloboma... |
ORPHA:370959 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, R... |
ORPHA:86839 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy |
OMIM:263100 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Agenesis of corpus callosum, Coloboma |
OMIM:614583 |
Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Corneal opacity, Hydrocephalus, Hepatomegaly, Pulmonary edema, Pallor, Megalo... |
ORPHA:137675 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Hydrops fetalis, Increased placental thickness, Developmental cataract, Pterygium,... |
ORPHA:1865 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia |
ORPHA:99931 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Pallor, Leukopenia, ... |
ORPHA:124 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Twin-to-twin transfusion, Lymphedema, Increased placen... |
ORPHA:1041 |
Gaucher Disease |
|
Corneal opacity, Hydrocephalus, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Abnorm... |
ORPHA:355 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Anophthalmia, Microcornea, Arrhinencephaly, Abnormality of th... |
ORPHA:3412 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Microcornea, Coloboma |
OMIM:602499 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Holoprosencephaly |
|
Hydrocephalus, Holoprosencephaly, Retinopathy, Abnormality of the spleen, Anophthalmia, Optic atr... |
ORPHA:2162 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Coloboma |
ORPHA:141333 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Achromatopsia 7 |
|
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Microphthalmi... |
ORPHA:91495 |
Oculocutaneous Albinism, Type Viii |
|
Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplasia of the fovea |
OMIM:619165 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Edema, Periorbital edema |
ORPHA:3386 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Ă…land Islands Eye Disease |
|
Hypopigmentation of the fundus, Hypoplasia of the fovea, Astigmatism |
ORPHA:178333 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopeni... |
OMIM:214500 |
Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Anophthalmia, Microphthalmia |
ORPHA:2470 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Hydrocephalus, Vitritis, Abnormality of retinal pigmentation, Retinal dysplasia,... |
ORPHA:2556 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Rod-cone dystrophy, Nonimmune hydrops fetalis, Thrombocytosis, Elevated hepatic tra... |
OMIM:212065 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor, Splenomegaly |
ORPHA:90037 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia, Dehydration, A... |
ORPHA:20 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema |
OMIM:200610 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic ... |
OMIM:611490 |
Incontinentia Pigmenti |
|
Keratitis, Leukocytosis, Retinal vascular proliferation, Pallor, Eosinophilia, Retinal detachment... |
OMIM:308300 |
Copper Deficiency, Familial Benign |
|
Anemia, Early balding, Curly hair |
OMIM:121270 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice |
ORPHA:90033 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Nonimmune hydrops fetalis, B lymphocytopenia, T lymphocytopenia, Impair... |
OMIM:619313 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Hydrops fetalis, Abnormality of the liver |
ORPHA:88618 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pancytopenia, Anemia, Thrombocytopenia, Pericardial ... |
ORPHA:77261 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:69735 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Nonimm... |
OMIM:617049 |
Aland Island Eye Disease |
|
Hypoplasia of the fovea, Astigmatism |
OMIM:300600 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Senior-Loken Syndrome 8 |
|
Rod-cone dystrophy, Intrahepatic bile duct dilatation, Pallor, Retinal dystrophy, Hepatic cysts, ... |
OMIM:616307 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Elevated ... |
OMIM:617406 |
Greenberg Dysplasia |
|
Hepatomegaly, Echogenic fetal bowel, Hepatic calcification, Hepatosplenomegaly, Hydrops fetalis, ... |
OMIM:215140 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Abnormality of the spleen, Arrhinencephaly, Anophthalmia, Microphthalmia, Agenesis ... |
ORPHA:2538 |
Aniridia 1 |
|
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... |
OMIM:106210 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Retinal coloboma, Hydrops fetalis, Anencephaly, Polyhydramnios |
OMIM:616546 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Wilson Disease |
|
Joint swelling, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, He... |
ORPHA:905 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... |
OMIM:616843 |
Fibular Hemimelia |
|
Abnormal anterior chamber morphology, Thrombocytopenia, Anophthalmia, Spina bifida |
ORPHA:93323 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Macular hypoplasia, Uveal ectropion, Ret... |
OMIM:609049 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... |
OMIM:604229 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Hepatic fibrosis, Ascites |
OMIM:614091 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Hydrocephalus, Neutropenia, Microphthalmia, Anemic pallor, Thrombocytopenia, Pa... |
OMIM:227646 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Megalocornea, Anophthalmia, Abnormal vitreous humor morphology, Corneal dystrophy, Abnormality of... |
ORPHA:1101 |
Fibrochondrogenesis 1 |
|
Megalocornea, Stillbirth, Hydrops fetalis |
OMIM:228520 |
Proboscis Lateralis |
|
Corneal opacity, Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Microcornea, Optic disc... |
ORPHA:141099 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Long Qt Syndrome 3 |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:603830 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... |
ORPHA:101096 |
Lethal Congenital Contracture Syndrome 10 |
|
Oligohydramnios, Hypoplasia of the thymus, Hydrops fetalis, Fetal akinesia sequence |
OMIM:617022 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Pallor, Dehydration, Thrombocytosis, Edema |
ORPHA:134 |
Albinism, Oculocutaneous, Type V |
|
Hypoplasia of the fovea |
OMIM:615312 |
Hermansky-Pudlak Syndrome 6 |
|
Absent foveal reflex, Ocular albinism, Ecchymosis, Macular hypoplasia, Abnormal platelet granules |
OMIM:614075 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Facial erythema, Transudative pleural effusion, Ascites |
ORPHA:284227 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Decreased fetal movement |
ORPHA:264200 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Cerebrooculonasal Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Iris coloboma, Encephalocele |
OMIM:605627 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Microphthal... |
OMIM:610256 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Cutis laxa, Splenomegaly, Hydrops fetalis, Cholestasis, Elevated hepatic transamina... |
OMIM:613610 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Hydrops fetalis, Arrhinencephaly, Polyhydramnios, Cataract, Bilateral microphthalm... |
ORPHA:3472 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea |
OMIM:113750 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Iris coloboma, Cataract, Anophthalmia, Microphthalmia |
ORPHA:2250 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Pallo... |
OMIM:605549 |
Jacobsen Syndrome |
|
Annular pancreas, Hydrocephalus, Holoprosencephaly, Macular hypoplasia, Microcornea, Optic atroph... |
OMIM:147791 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Congenital Erythropoietic Porphyria |
|
Corneal ulceration, Splenomegaly, Anisocytosis, Leukopenia, Keratoconjunctivitis, Nonimmune hydro... |
ORPHA:79277 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Corneal opacity, Hydrocephalus, Microphthalmia, Buphthalmos, Optic nerve hypoplasia, Megalocornea... |
OMIM:236670 |
Plummer-Vinson Syndrome |
|
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... |
ORPHA:263455 |
Achondrogenesis, Type Ia |
|
Hydrops fetalis, Absence of stomach bubble on fetal sonography, Polyhydramnios, Stillbirth, Incre... |
OMIM:200600 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Gm1 Gangliosidosis Type 1 |
|
Abnormal placenta morphology, Hepatosplenomegaly, Hydrops fetalis, Cherry red spot of the macula |
ORPHA:79255 |
Idiopathic Hypereosinophilic Syndrome |
|
Joint swelling, Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferativ... |
ORPHA:3260 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia, Coloboma |
OMIM:615665 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Ret... |
OMIM:600901 |
Hepatoerythropoietic Porphyria |
|
Corneal ulceration, Splenomegaly, Keratoconjunctivitis, Nonimmune hydrops fetalis, Hemolytic anem... |
ORPHA:95159 |
Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Anophthalmia, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
Neurooculocardiogenitourinary Syndrome |
|
Peters anomaly, Microphthalmia, Redundant neck skin, Coloboma |
OMIM:618652 |
Degcags Syndrome |
|
Hepatomegaly, Echogenic fetal bowel, Single umbilical artery, Congenital hypoplastic anemia, Pall... |
OMIM:619488 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Hypoplasia of the fovea, Depigmented fundus, Optic nerve misrouting, Iris hypopigmen... |
ORPHA:352731 |
Curry-Jones Syndrome |
|
Microphthalmia, Agenesis of corpus callosum, Coloboma |
OMIM:601707 |
Focal Dermal Hypoplasia |
|
Myelomeningocele, Hydrocephalus, Anophthalmia, Spina bifida occulta, Optic atrophy, Iris coloboma... |
OMIM:305600 |
Non-Functioning Paraganglioma |
|
Pallor, Hypertensive retinopathy |
ORPHA:94080 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Hydrops fetalis, Bilateral fetal pyele... |
OMIM:300868 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis |
OMIM:269250 |
Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Partial agenesis of the c... |
OMIM:610829 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Ret... |
OMIM:227650 |
Alg9-Cdg |
|
Hepatomegaly, Periportal fibrosis, Thickened nuchal skin fold, Hydrops fetalis, Hepatic cysts, Ol... |
ORPHA:79328 |
Coach Syndrome 1 |
|
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Coloboma, Elevated hepa... |
OMIM:216360 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis |
OMIM:607823 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Pterygium, Nonimmune hydrops fetalis |
OMIM:618052 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hydrops fetalis |
ORPHA:79329 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Coloboma |
OMIM:619318 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death |
OMIM:276822 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hydrops fetalis, Popliteal pterygium, Axillary pterygium, Neck pterygia, Antecubital pterygium, P... |
OMIM:265000 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor, Cerebral edema |
ORPHA:439218 |
Osteogenesis Imperfecta, Type Ii |
|
Nonimmune hydrops fetalis, Premature birth |
OMIM:166210 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Blue irides, Hypopigmentation of the fundus |
OMIM:203200 |
Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Coloboma |
OMIM:614465 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Ret... |
OMIM:227645 |
Pituitary Apoplexy |
|
Pallor, Normochromic anemia, Mydriasis |
ORPHA:95613 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Palpebral edema, Lymphedema, Nonimmune hydrops fetalis |
OMIM:137940 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Macular hypoplasia |
OMIM:613792 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Hypertensive retinopathy, Polycythemia, Pallor, Macular edema, Retinal ... |
ORPHA:892 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Hydrops fetalis, Ascites, Fetal ... |
ORPHA:646 |
Charge Syndrome |
|
Aqueductal stenosis, Holoprosencephaly, Anophthalmia, Optic atrophy, Polyhydramnios, Iris colobom... |
ORPHA:138 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
Hennekam Syndrome |
|
Lymphopenia, Chylothorax, Splenomegaly, Hydrops fetalis, Lymphedema, Ascites, Pericardial effusion |
ORPHA:2136 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:348 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hydrops fetalis, Hepatic fibrosis, Retinal dystrophy |
OMIM:263520 |
Hermansky-Pudlak Syndrome 4 |
|
Ocular albinism, Hypoplasia of the fovea, Abnormal platelet granules |
OMIM:614073 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Cataract, Premature birth |
ORPHA:50945 |
Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Pallor, Thrombocytosis, Neutropenia, Primary congenital glaucoma, ... |
OMIM:105650 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor, Edema |
ORPHA:329971 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor, Retinal capillary hemangioma, Aniridia, Hypertensive retinopathy |
ORPHA:29072 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Hepatomegaly, Splenomegaly, Pallor, Optic nerve compression, Anemia |
ORPHA:667 |
Hermansky-Pudlak Syndrome 5 |
|
Ocular albinism, Hypoplasia of the fovea, Absent platelet dense granules, Iris transillumination ... |
OMIM:614074 |
Retinitis Pigmentosa 75 |
|
Pallor, Mixed astigmatism |
OMIM:617023 |
Charge Syndrome |
|
Lymphopenia, Holoprosencephaly, Retinal coloboma, Anophthalmia, Arrhinencephaly, Unilateral micro... |
OMIM:214800 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Microphthalmia, Syndromic 2 |
|
Remnants of the hyaloid vascular system, Retinal detachment, Anophthalmia, Microcornea, Iris colo... |
OMIM:300166 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Ocular albinism, Reduced platelet dense granules, Iris transillumination... |
OMIM:619172 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hydrops fetalis, Polyhydramnios, Edema, Fetal polyuria, Premature birth |
OMIM:602522 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Abnormal macular morphology, Hypoplasia of the fovea,... |
ORPHA:54 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Leukocytosis, Pallor, Pleural empyema, Hemolytic anemia, Edema, Generalized edema, ... |
ORPHA:544482 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
Adenohypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95512 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Lens subluxation, Band keratopathy, Chorioretinal atrophy, Retinal detachm... |
OMIM:267750 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Macular... |
ORPHA:85167 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Coloboma, Cataract, Bilateral microphthalmos, Microphthalmia, Conjunctival hyper... |
ORPHA:2399 |
Panhypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95513 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Joubert Syndrome 21 |
|
Retinopathy, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
Sheehan Syndrome |
|
Dry skin, Pallor, Normochromic anemia |
ORPHA:91355 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis, Cataract, Agenesis of corpus callosum, Congenital hepatic fibrosis |
ORPHA:93271 |
Cardiac Valvular Dysplasia 1 |
|
Hydrops fetalis, Edema |
OMIM:212093 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Pigmentary retinopathy |
OMIM:617675 |
Tay-Sachs Disease |
|
Pallor, Cherry red spot of the macula |
OMIM:272800 |
Fraser Syndrome 1 |
|
Myelomeningocele, Corneal opacity, Hydrocephalus, Anophthalmia, Bilateral microphthalmos, Encepha... |
OMIM:219000 |
Esophageal Atresia |
|
Pallor, Maternal diabetes, Absence of stomach bubble on fetal sonography, Coloboma, Polyhydramnios |
ORPHA:1199 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypoplasia of the fovea, Optic nerve misrou... |
ORPHA:79435 |
Nephronophthisis 11 |
|
Anemia, Anisocoria, Hepatic fibrosis, Retinal degeneration |
OMIM:613550 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Coloboma |
OMIM:617306 |
Oculocutaneous Albinism Type 5 |
|
Ocular albinism, Hypoplasia of the fovea, Abnormal fundus morphology |
ORPHA:370091 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Hypertensive retinopathy |
ORPHA:276621 |
Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Elevated... |
ORPHA:100076 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Thickened nuchal skin fold, Nonimmune hydrops fetalis, Neonatal death, Polyhydr... |
OMIM:265380 |
Generalized Arterial Calcification Of Infancy |
|
Recurrent spontaneous abortion, Hepatic calcification, Hydrops fetalis, Retinal hemorrhage, Polyh... |
ORPHA:51608 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microcornea, Retinal dystrophy, Coloboma, Microphthalmia, Sclerocornea |
OMIM:607932 |
Phocomelia, Schinzel Type |
|
Hydrops fetalis, Meningocele |
ORPHA:2879 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Lymphedema, Nonimmune hydrops fetalis, Chylothorax |
ORPHA:137667 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration, Mydriasis |
ORPHA:2131 |
Developmental And Epileptic Encephalopathy 83 |
|
Hypoplasia of the fovea |
OMIM:618744 |
Fraser Syndrome 3 |
|
Hydrops fetalis |
OMIM:617667 |
Blau Syndrome |
|
Keratitis, Joint swelling, Abnormal retinal vascular morphology, Splenomegaly, Retinopathy, Xeros... |
ORPHA:90340 |
Achromatopsia 2 |
|
Absent foveal reflex, Dull foveal reflex, Myopic astigmatism, Retinal thinning, Hypoplasia of the... |
OMIM:216900 |
Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
Branchiooculofacial Syndrome |
|
Retinal coloboma, Anophthalmia, Iris coloboma, Cataract, Microphthalmia |
OMIM:113620 |
Yunis-Varon Syndrome |
|
Hydrops fetalis, Premature birth, Arrhinencephaly, Polyhydramnios, Cataract, Agenesis of corpus c... |
OMIM:216340 |
Hermansky-Pudlak Syndrome 8 |
|
Optic disc pallor, Ocular albinism, Hypoplasia of the fovea, Astigmatism |
OMIM:614077 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Oculocutaneous Albinism |
|
Ocular albinism, Hypoplasia of the fovea, Iris hypopigmentation, Iris coloboma, Hypopigmentation ... |
ORPHA:55 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Blue irides, Hypoplasia of the fovea, Optic nerve misrouting... |
ORPHA:79432 |
Fraser Syndrome |
|
Abnormal hair pattern, Anophthalmia, Microphthalmia |
ORPHA:2052 |
Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Abnormality ... |
ORPHA:79434 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Optic disc coloboma, Coloboma, Iris coloboma, Cataract, Optic disc hypoplasia, Micro... |
ORPHA:959 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Arrhinencephaly, True anophthalmia, Optic atrophy, Microphthalmia |
ORPHA:1106 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Neoplasm of the liver, Prominent corneal nerve fibers |
ORPHA:653 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Ocular albinism, Hypoplasia of the fovea, Abnormality of the optic nerve |
ORPHA:79431 |
Craniofacial Microsomia |
|
Hydrocephalus, Limbal dermoid, Anophthalmia, Microphthalmia, Occipital encephalocele, Agenesis of... |
OMIM:164210 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Macular hypoplasia, Microcornea, Astigmatism |
ORPHA:1675 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Ocular albinism, Blue irides, Astigmatism |
OMIM:203100 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Microcornea, Optic disc coloboma, Iris coloboma, Microphthalmia, Ciliary body colob... |
OMIM:309800 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor, Pericardial effusion |
ORPHA:91347 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Chole... |
OMIM:619534 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Hypoplasia of t... |
OMIM:619539 |
Roberts-Sc Phocomelia Syndrome |
|
Hydrocephalus, Accessory spleen, Opacification of the corneal stroma, Biliary tract abnormality, ... |
OMIM:268300 |
Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Low 5-minute APGAR score, Pallor, Hepatomegaly, Low 1-minute APGAR score |
ORPHA:99125 |