Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
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 |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia |
ORPHA:46532 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal pericardial effusion, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Hepatom... |
OMIM:619462 |
Hb Bart'S Hydrops Fetalis |
|
Oligohydramnios, Pallor, Splenomegaly, Abnormal hemoglobin, Polyhydramnios, Hepatomegaly, Hydroce... |
ORPHA:163596 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Fetal Parvovirus Syndrome |
|
Ascites, Increased nuchal translucency, Thrombocytopenia, Anemia, Hydrops fetalis |
ORPHA:295 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia, Hydrops fetali... |
ORPHA:101028 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Agenesis of corpus callosum, Microph... |
ORPHA:139471 |
Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Premature birth |
ORPHA:2123 |
Sialidosis Type 2 |
|
Abnormal macular morphology, Ascites, Splenomegaly, Corneal opacity, Hepatomegaly, Hydrops fetali... |
ORPHA:87876 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... |
OMIM:615631 |
Alg8-Cdg |
|
Optic atrophy, Cataract, Elevated circulating hepatic transaminase concentration, Premature skin ... |
ORPHA:79325 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Colpocephaly, Hydrocephalus, Iris coloboma |
ORPHA:2185 |
Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Alpha-Thalassemia |
|
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba... |
ORPHA:846 |
Walker-Warburg Syndrome |
|
Optic atrophy, Iris coloboma, Cataract, Microcornea, Abnormal optic nerve morphology, Anophthalmi... |
ORPHA:899 |
Infantile Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Hydrops fetalis, Prem... |
OMIM:269920 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Reticulocy... |
OMIM:266200 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly |
ORPHA:2204 |
Neuraminidase Deficiency |
|
Facial edema, Cataract, Cherry red spot of the macula, Ascites, Splenomegaly, Hydrops fetalis, He... |
OMIM:256550 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Ascites, Astigmatism, Hepatomegaly, Hydrops fetalis, Iris coloboma, Corne... |
OMIM:253250 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Bull's eye maculopathy, Pallor, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610381 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Pallor, Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:609021 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia, Agenesis of corpus callosum |
OMIM:164180 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma, Stillbirth |
OMIM:257350 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Skin ulcer, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis |
ORPHA:834 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Decreased fetal movement, Neonatal death, ... |
ORPHA:85212 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Sclerocornea, Holoprose... |
ORPHA:77298 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Abnormality of the amniotic fluid, Splenomegaly, Nonimmune hydrops fetalis |
OMIM:608540 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy, Iris cyst |
OMIM:620086 |
Acute Myelomonocytic Leukemia |
|
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
ORPHA:517 |
Beta-Thalassemia |
|
Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... |
ORPHA:848 |
Congenital Enterovirus Infection |
|
Hepatic failure, Fetal ascites, Hepatitis, Fetal distress, Cholestasis, Leukopenia, Leukocytosis,... |
ORPHA:292 |
Microphthalmia/Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia |
OMIM:251505 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor |
OMIM:613561 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... |
OMIM:616738 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
X-Linked Sideroblastic Anemia |
|
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly |
ORPHA:75563 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... |
OMIM:615234 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy, Coloboma, Agenesis of corpus callosum |
OMIM:274270 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis, Developmental cataract, Corneal opacity |
OMIM:618815 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Cataract 21, Multiple Types |
|
Microcornea, Peters anomaly, Cortical pulverulent cataract, Cerulean cataract, Macular hypoplasia... |
OMIM:610202 |
Congenital Syphilis |
|
Optic atrophy, Cataract, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplanta... |
ORPHA:499009 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Trisomy 13 |
|
Optic atrophy, Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Abnormal retinal vascular ... |
ORPHA:3378 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Long eyelashes, Thick eyebrow, Anophthalmia, Low anterior hairline, Synophrys |
ORPHA:411986 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... |
ORPHA:507 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Fetal pericardial effusion, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decr... |
OMIM:617021 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... |
ORPHA:2334 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... |
OMIM:557000 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Hydrolethalus |
|
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Polyhydramnios, Anencep... |
ORPHA:2189 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic... |
ORPHA:288 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Oligohydramnios, Nonimmu... |
OMIM:231100 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chylopericardium |
ORPHA:2414 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Dry skin, Pallor, Facial erythema, Conjunctivitis |
OMIM:603165 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ... |
ORPHA:231222 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Ascites, Hepatosplenomegaly, Portal hypertension, Decreased fetal movement, Cirr... |
OMIM:232500 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Macular degeneration, Elevated circulating hepatic transaminas... |
ORPHA:333 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatic artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatomegaly, Hydrops fetalis |
OMIM:619433 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Pallor, Megaloblastic anemia, Thrombocytopenia, Retinal dystrophy |
ORPHA:49827 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Chori... |
OMIM:619111 |
Fanconi Anemia, Complementation Group I |
|
Pallor, Astigmatism, Agenesis of corpus callosum, Colpocephaly, Neutropenia, Microphthalmia, Opti... |
OMIM:609053 |
Trisomy 1Q |
|
Increased nuchal translucency, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Polyhydr... |
ORPHA:261344 |
Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Ascites, Hepatomegaly, Hydrops fetalis, Edema |
ORPHA:90308 |
Congenital Heart Block |
|
Oligohydramnios, Pallor, Pleural effusion, Peripheral edema, Vaginal birth after Caesarian, Peric... |
ORPHA:60041 |
Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Anophthalmia, Encephalocele, Anhydramnios, Microphthalmia, Pericardial e... |
OMIM:613885 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... |
OMIM:613839 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati... |
OMIM:194380 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Coloboma, Hydrocephalus, Ocular anterior segment dysgenesis, Development... |
ORPHA:324416 |
Microphthalmia, Syndromic 5 |
|
Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Retinal dystrophy, Optic nerve hyp... |
OMIM:610125 |
Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Abnormality of retinal pigmenta... |
ORPHA:858 |
Foveal Hypoplasia 2 |
|
Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th... |
OMIM:609218 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Abnormal optic nerve morphology, Lymphedema, Leukocytosis, Splenomegaly, Pallor, ... |
ORPHA:3226 |
Oculotrichoanal Syndrome |
|
Abnormal hair pattern, Anophthalmia, Microphthalmia |
ORPHA:2717 |
Indomethacin Embryofetopathy |
|
Oligohydramnios, Hydrops fetalis, Premature birth |
ORPHA:1909 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Hydrops fetalis, Polyhydramnios, Single umbilical artery |
ORPHA:3405 |
Achondrogenesis, Type Ib |
|
Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:600972 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth |
OMIM:215045 |
Anophthalmia Plus Syndrome |
|
Iris coloboma, Anophthalmia, Spina bifida |
ORPHA:1104 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Fetal skin edema, Splenomegaly, Decreased fetal movement, Hepatomegaly, Hydrops fetalis,... |
OMIM:608776 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Coloboma, Microphthalmia, Cyclopia, Holoprosencephaly |
OMIM:147250 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Cataract, Elevated circulating hepatic transaminase concentration, Microcytic anem... |
OMIM:612379 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer... |
OMIM:600462 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... |
ORPHA:97341 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Agenesis of corpus callosum, Coloboma, Retinal detachment, Corneal opacity, Hydrocephal... |
OMIM:613153 |
Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of the macula |
ORPHA:33445 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Cataract, Chylothorax, Abnormal optic nerve morphology, Skin ulcer, Lymphedema, Ed... |
ORPHA:2526 |
Microphthalmia, Syndromic 3 |
|
Cataract, Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Coloboma, Hypothalamic ... |
OMIM:206900 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Desquamation of skin soon after birth, Ascites, Hepatosplenomegaly, Polyhydramni... |
OMIM:608013 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Redundant neck skin, Nonimmune hydrops fetalis |
OMIM:619003 |
Mycophenolate Mofetil Embryopathy |
|
Chorioretinal coloboma, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Hydrops fetal... |
ORPHA:268249 |
Long-Olsen-Distelmaier Syndrome |
|
Premature rupture of membranes, Cataract, Microspherophakia, Elevated circulating aspartate amino... |
OMIM:620609 |
Evans Syndrome |
|
Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:1959 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia |
OMIM:611590 |
Meckel Syndrome |
|
Accessory spleen, Optic atrophy, Microcornea, Cataract, Oligohydramnios, Anophthalmia, Aplasia/Hy... |
ORPHA:564 |
Srd5A3-Cdg |
|
Optic atrophy, Cataract, Elevated circulating hepatic transaminase concentration, Optic disc hypo... |
ORPHA:324737 |
Albinism, Oculocutaneous, Type Iv |
|
Macular hypoplasia, Hypopigmentation of the fundus, Blue irides |
OMIM:606574 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Cataract, Megalocornea, Pallor, Hypoplasia of the retina, Retinal degeneration, Re... |
OMIM:253280 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Neonatal death, Nonimmune hydrops fetalis, Anemia, Premature birth |
OMIM:618835 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Abnormal retinal morphology |
ORPHA:2786 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, C... |
ORPHA:90321 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Neonatal death, Nonimmune hydrops fetalis, Anemia, Premature birth |
OMIM:618839 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor |
ORPHA:56425 |
Fumarase Deficiency |
|
Optic atrophy, Intrahepatic cholestasis, Hepatic failure, Conjunctival icterus, Polycythemia, Asc... |
OMIM:606812 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... |
ORPHA:98870 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Retinal arterial to... |
OMIM:620371 |
Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... |
OMIM:620014 |
2Q24 Microdeletion Syndrome |
|
Cataract, Coloboma, Abnormality iris morphology, Microphthalmia |
ORPHA:1617 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma |
OMIM:610023 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Optic atrophy, Partial agenesis of the corpus callosum, Hepatomegaly |
OMIM:607196 |
Stargardt Disease |
|
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... |
ORPHA:827 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... |
ORPHA:367 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Chorioretinal coloboma, Agenesis of corpus callosum, Macular hypoplasia, Colpoceph... |
OMIM:615219 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... |
ORPHA:300298 |
Campomelia, Cumming Type |
|
Lymphedema, Oligohydramnios, Aplasia/Hypoplasia affecting the eye, Hydrops fetalis, Hepatomegaly,... |
ORPHA:1318 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Conjunctivitis, Anophthalmia, Developmental cataract |
ORPHA:90322 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:932 |
Cerebrooculonasal Syndrome |
|
Sparse eyebrow, Anophthalmia, Sparse eyelashes |
ORPHA:66625 |
Congenital Rubella Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, Hepa... |
ORPHA:290 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Mosaic Trisomy 9 |
|
Oligohydramnios, Polyhydramnios, Single umbilical artery, Spina bifida, Corneal opacity, Micropht... |
ORPHA:99776 |
Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93298 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea |
OMIM:615877 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93299 |
Gm1 Gangliosidosis |
|
Optic atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Splenomegaly, Abnormal retinal ... |
ORPHA:354 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor, Pallor |
OMIM:612989 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Periorbital edema, Retinal hemorrhage, Splenomegaly, Pallor, Pleural effusion,... |
ORPHA:33226 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Dehydration, Retinal ... |
ORPHA:79282 |
Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia |
ORPHA:318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Retinal degeneration, Agenesis of corpus callosum, Coloboma, Hy... |
OMIM:615249 |
Congenital Sialidosis Type 2 |
|
Optic atrophy, Cataract, Cherry red spot of the macula, Ascites, Hepatosplenomegaly, Petechiae, H... |
ORPHA:93400 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Attenuation of retinal blood vessels, Pallor, Bone spicule pigmentation of ... |
OMIM:613464 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Polyhydramnios, Hydrops fetalis, Decreased fetal movement |
OMIM:255320 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Erythema, Hepatic fibrosis, Periorbital edema, Conjunctivitis, Cholestasis, Elevated circulating ... |
OMIM:620376 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... |
OMIM:254450 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Lymphedema, Ascites, Splenomegaly, Corneal opacity, Hydrops fetalis |
ORPHA:584 |
Sepsis In Premature Infants |
|
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Caesarian ... |
ORPHA:90051 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... |
OMIM:612109 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... |
ORPHA:35858 |
Galactosialidosis |
|
Cherry red spot of the macula, Hepatosplenomegaly, Nonimmune hydrops fetalis, Conjunctival telang... |
OMIM:256540 |
Frontonasal Dysplasia 1 |
|
Cataract, Cranium bifidum occultum, Anterior basal encephalocele, Agenesis of corpus callosum, Co... |
OMIM:136760 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:1263 |
Achromatopsia |
|
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... |
ORPHA:49382 |
Pearson Syndrome |
|
Cataract, Pigmentary retinopathy, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:699 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, An... |
OMIM:301310 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... |
ORPHA:331206 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cataract, Abnormality iris morphology, Occipital encephalocele, Megalocornea, Agen... |
ORPHA:370959 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Anemic pallor, A... |
ORPHA:86839 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Dysplastic corpus callosum, Oligohydramnios |
OMIM:620135 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Familial Benign Copper Deficiency |
|
Anemia, Early balding, Aplasia/Hypoplasia of the fovea |
ORPHA:1551 |
Manitoba Oculotrichoanal Syndrome |
|
Abnormality of the hairline, Anophthalmia, Microphthalmia |
OMIM:248450 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia |
ORPHA:276575 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Megalocornea, Congenital aphakia, Pallor, Agenesis of corpus callosum, Pulmonary e... |
ORPHA:137675 |
Aland Island Eye Disease |
|
Hypoplasia of the fovea, Hypopigmentation of the fundus, Astigmatism |
OMIM:300600 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ascites, Pleural effusion, Single umbilical artery, Polyhydramnios, Hydrops fetalis |
OMIM:616897 |
Gm1-Gangliosidosis, Type I |
|
Cherry red spot of the macula, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Hydrops fetalis |
OMIM:230500 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor |
ORPHA:276556 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... |
ORPHA:98849 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Iris coloboma |
ORPHA:2611 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Increased placental thickness, Pterygium, Encephalocele, Single umbilical artery, Developmental c... |
ORPHA:1865 |
Ă…land Islands Eye Disease |
|
Hypoplasia of the fovea, Hypopigmentation of the fundus, Astigmatism |
ORPHA:178333 |
Hydrops Fetalis |
|
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... |
ORPHA:1041 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Coloboma, Agenesis of corpus callosum |
OMIM:614583 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Elliptocytosis 1 |
|
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Vacterl With Hydrocephalus |
|
Microcornea, Abnormal optic nerve morphology, Anophthalmia, Single umbilical artery, Hydrocephalu... |
ORPHA:3412 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor |
ORPHA:276580 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Coloboma |
OMIM:616490 |
American Trypanosomiasis |
|
Periorbital edema, Pallor, Splenomegaly, Hepatomegaly, Edema |
ORPHA:3386 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, Cholestasis, Ele... |
OMIM:609015 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... |
ORPHA:91495 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Dehydration, Leukopenia, Leukocytosis, P... |
ORPHA:20 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Achondrogenesis, Type Ii |
|
Abnormally large globe, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Holoprosencephaly |
|
Optic atrophy, Spinal dysraphism, Chorioretinal coloboma, Abnormality of the spleen, Retinopathy,... |
ORPHA:2162 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus, Microphthalmia |
ORPHA:141333 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema, Anophthalmia, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Abnorma... |
ORPHA:2556 |
Oculocutaneous Albinism, Type Viii |
|
Chorioretinal hypopigmentation, Hypoplasia of the fovea, Iris transillumination defect |
OMIM:619165 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Hydrocephalus, Corneal opacity, Hepatomegaly, Hydrops fetalis |
OMIM:253220 |
Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Anophthalmia, Microphthalmia |
ORPHA:2470 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Nonimmune hydrops fetalis, Hypoplasia of the thymus, Impaired ... |
OMIM:619313 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyelash morphology, Anophthalmia, Microphthalmia |
OMIM:206920 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Abnormal macular morphology, Cher... |
ORPHA:355 |
Incontinentia Pigmenti |
|
Optic atrophy, Erythema, Cataract, Keratitis, Leukocytosis, Pallor, Hypoplasia of the fovea, Reti... |
OMIM:308300 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, ... |
OMIM:214500 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Pallor, Hepatomegaly, Elevated cir... |
OMIM:246450 |
Facial Clefting, Oblique, 1 |
|
Coloboma, Microphthalmia |
OMIM:600251 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... |
OMIM:616860 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Non... |
OMIM:212065 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis |
ORPHA:69735 |
Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... |
OMIM:106210 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Rod-cone dystrophy, Macular atrophy, Pa... |
OMIM:616307 |
Retinitis Pigmentosa 75 |
|
Attenuation of retinal blood vessels, Pallor, Mixed astigmatism, Bone spicule pigmentation of the... |
OMIM:617023 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice |
ORPHA:90033 |
Copper Deficiency, Familial Benign |
|
Anemia, Early balding, Curly hair |
OMIM:121270 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Bull's eye maculopathy, Fetal pleural effusion, Nonimmune hydrops fetalis |
OMIM:620167 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten... |
OMIM:616959 |
Bardet-Biedl Syndrome 21 |
|
Elevated circulating hepatic transaminase concentration, Retinal thinning, Hyperautofluorescent m... |
OMIM:617406 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatitis, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoi... |
ORPHA:3261 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Hepatomegaly |
ORPHA:2538 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the liver, Elevated circulating hepatic transaminase concentration, Hydrops fetali... |
ORPHA:88618 |
Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Ant... |
OMIM:604229 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation, Fetal distress, Polyhydramnios, Microvesicular hepatic steatosis, B... |
OMIM:300868 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Pleural ... |
OMIM:617049 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Lateral ventricle dilatation, Pancreatic fibrosis, Hydrops fetalis, Retinal dys... |
OMIM:263520 |
Beta-Ketothiolase Deficiency |
|
Dehydration, Leukocytosis, Pallor, Thrombocytosis, Hepatomegaly, Edema |
ORPHA:134 |
Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Splenomegaly... |
OMIM:616843 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Greenberg Dysplasia |
|
Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Polyhydramnios, Pancreatic isl... |
OMIM:215140 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Abnormal optic nerve morphology, Megalocornea, Aniridia, Anophthalmia, Abnormal vitreous humor mo... |
ORPHA:1101 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Pancytopenia, Microphthalmia, Agenesis of corpus callosum, Anemia, Reticulocyto... |
OMIM:227646 |
Fibular Hemimelia |
|
Spina bifida, Abnormal anterior chamber morphology, Anophthalmia, Thrombocytopenia |
ORPHA:93323 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Optic atrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase co... |
OMIM:619487 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Pericardial ... |
ORPHA:77261 |
Pierson Syndrome |
|
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... |
OMIM:609049 |
Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of... |
ORPHA:101096 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Proboscis Lateralis |
|
Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Corneal opacity... |
ORPHA:141099 |
Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorr... |
ORPHA:294 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia, ... |
OMIM:611490 |
Long Qt Syndrome 3 |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:603830 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Hydrops fetalis |
OMIM:614091 |
Albinism, Oculocutaneous, Type V |
|
Hypoplasia of the fovea |
OMIM:615312 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Retinal coloboma, Occipital meningocele, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Anencephaly |
OMIM:616546 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Hydrocephalus, Iris coloboma, Optic nerve hypoplasia |
OMIM:605627 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Con... |
OMIM:610256 |
Cone-Rod Dystrophy 8 |
|
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Pallor, A... |
OMIM:605549 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Stillbirth, Megalocornea |
OMIM:228520 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Recurren... |
OMIM:153400 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Abnormal placenta morphology, Hydrops fetalis, Cherry red spot of the macula |
ORPHA:79255 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Decreased fetal movement, Agenesis of corpus callosum |
ORPHA:264200 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Neonatal death, Hypoplastic spleen |
OMIM:601186 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea |
OMIM:113750 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Angioedema, Hepatosplen... |
ORPHA:3260 |
Tempi Syndrome |
|
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Facial erythema |
ORPHA:284227 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Iris coloboma, Anophthalmia, Microphthalmia |
ORPHA:2250 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Pallor, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia, Neutropeni... |
OMIM:277400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Cataract, Peters anomaly, Occipital encephalocele, Megalocornea, Agenesis of corpu... |
OMIM:236670 |
Jacobsen Syndrome |
|
Optic atrophy, Microcornea, Annular pancreas, Chorioretinal coloboma, Macular hypoplasia, Hydroce... |
OMIM:147791 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... |
ORPHA:263455 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis |
OMIM:153100 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Yunis-Varon Syndrome |
|
Cataract, Bilateral microphthalmos, Increased nuchal translucency, Polyhydramnios, Redundant neck... |
ORPHA:3472 |
Cranioectodermal Dysplasia 2 |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... |
OMIM:613610 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
Neurooculocardiogenitourinary Syndrome |
|
Coloboma, Peters anomaly, Redundant neck skin, Microphthalmia |
OMIM:618652 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Pallor |
ORPHA:94080 |
Joubert Syndrome 22 |
|
Retinal dysplasia, Coloboma, Microphthalmia |
OMIM:615665 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Nonimmune hydrops... |
ORPHA:79277 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... |
OMIM:600901 |
Degcags Syndrome |
|
Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Pallor, Polyhydramnios, Agenesis of co... |
OMIM:619488 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Lethal Congenital Contracture Syndrome 10 |
|
Fetal akinesia sequence, Hypoplasia of the thymus, Oligohydramnios, Hydrops fetalis |
OMIM:617022 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Achondrogenesis, Type Ia |
|
Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Stillbirth, Polyhyd... |
OMIM:200600 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... |
OMIM:227650 |
Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of th... |
ORPHA:352731 |
Hepatoerythropoietic Porphyria |
|
Erythroid hyperplasia, Splenomegaly, Nonimmune hydrops fetalis, Keratoconjunctivitis, Abnormality... |
ORPHA:95159 |
Joubert Syndrome 21 |
|
Optic atrophy, Occipital encephalocele, Retinopathy, Splenomegaly, Anophthalmia, Megalopapilla, E... |
OMIM:615636 |
Joubert Syndrome 15 |
|
Exencephaly, Coloboma, Retinopathy, Retinal dystrophy |
OMIM:614464 |
Vici Syndrome |
|
Cataract, Hypopigmentation of the fundus, Ocular albinism, Lymphopenia, Leukopenia, Decreased pro... |
OMIM:242840 |
Focal Dermal Hypoplasia |
|
Optic atrophy, Ectopia lentis, Chorioretinal coloboma, Myelomeningocele, Aniridia, Anophthalmia, ... |
OMIM:305600 |
Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral edema, Facial erythema, Pallor |
ORPHA:439218 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Occipital encephalocel... |
OMIM:216360 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Pterygium, Nonimmune hydrops fetalis |
OMIM:618052 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis |
OMIM:269250 |
Alg9-Cdg |
|
Periportal fibrosis, Oligohydramnios, Hepatic cysts, Decreased fetal movement, Thickened nuchal s... |
ORPHA:79328 |
Congenital Myopathy 22B, Severe Fetal |
|
Ascites, Pleural effusion, Polyhydramnios, Decreased fetal movement, Nonimmune hydrops fetalis, B... |
OMIM:620369 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of the fundus, Blue irides |
OMIM:203200 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:137940 |
Charge Syndrome |
|
Optic atrophy, Chorioretinal coloboma, Anophthalmia, Coloboma, Microphthalmia, Polyhydramnios, Aq... |
ORPHA:138 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Von Hippel-Lindau Disease |
|
Retinal capillary hemangioma, Macular edema, Polycythemia, Pallor, Hypertensive retinopathy, Papi... |
ORPHA:892 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Holoprosencephaly 9 |
|
Alobar holoprosencephaly, Anophthalmia, Hydrocephalus, Microphthalmia, Partial agenesis of the co... |
OMIM:610829 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... |
OMIM:227645 |
Pituitary Apoplexy |
|
Mydriasis, Pallor, Normochromic anemia |
ORPHA:95613 |
Joubert Syndrome 16 |
|
Coloboma, Encephalocele, Retinal dystrophy |
OMIM:614465 |
Mgat2-Cdg |
|
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin |
ORPHA:79329 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral microphthalmos, Coloboma, Bilateral microphthalmos |
OMIM:619318 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Macular hypoplasia |
OMIM:613792 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Retinal capillary hemangioma, Aniridia, Hypertensive retinopathy, Pallor |
ORPHA:29072 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Axillary pterygium, Intercrural pterygium, Popliteal pterygium, Neck pterygia, Pterygium, Decreas... |
OMIM:265000 |
Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Lymphopenia, Splenomegaly, Pericardial effusion, Hydrops fetalis |
ORPHA:2136 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor, Edema |
ORPHA:329971 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis |
ORPHA:348 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death |
OMIM:276822 |
Osteogenesis Imperfecta, Type Ii |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Periorbital edema, Spina bifida occulta,... |
OMIM:235510 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Noonan Syndrome 2 |
|
Increased nuchal translucency, Polyhydramnios, Redundant neck skin, Anterior polar cataract, Noni... |
OMIM:605275 |
Lymphatic Malformation 13 |
|
Fetal pericardial effusion, Lymphedema, Ascites, Nonimmune hydrops fetalis, Neonatal death, Singl... |
OMIM:620244 |
Osteopetrosis, Autosomal Recessive 7 |
|
Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Splenomegaly, Hepatomegaly,... |
OMIM:612301 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Fraser Syndrome 3 |
|
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Hydrocephalus, Sonographic non-visualized fe... |
OMIM:617667 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Coloboma, Microphthalmia, Iris transillumination defect |
OMIM:617306 |
Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Pallor, Splenomegaly, Hepatomegaly, Hydrocephalus, Anemia |
ORPHA:667 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Cataract, Hydrops fetalis, Premature birth |
ORPHA:50945 |
Adenohypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95512 |
Niemann-Pick Disease Type C |
|
Hepatic failure, Fetal ascites, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splenomega... |
ORPHA:646 |
Microphthalmia, Syndromic 2 |
|
Microcornea, Anophthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Microphth... |
OMIM:300166 |
Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Ocular albinism |
OMIM:614073 |
Hermansky-Pudlak Syndrome 5 |
|
Ocular albinism, Hypoplasia of the fovea, Absent platelet dense granules, Thrombocytopenia, Iris ... |
OMIM:614074 |
Charge Syndrome |
|
Cataract, Retinal coloboma, Lymphopenia, Unilateral microphthalmos, Anophthalmia, Coloboma, Micro... |
OMIM:214800 |
Panhypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95513 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Infection-Related Hemolytic Uremic Syndrome |
|
Generalized edema, Edema, Pallor, Leukocytosis, Pancreatitis, Thrombocytopenia, Hemolytic anemia,... |
ORPHA:544482 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis |
OMIM:607823 |
Knobloch Syndrome 1 |
|
Band keratopathy, Occipital encephalocele, Vitreoretinopathy, Attenuation of retinal blood vessel... |
OMIM:267750 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Reduced platelet dense granules, Iris transillumination defect, Ocular a... |
OMIM:619172 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... |
ORPHA:54 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Macular atrophy, Cone/co... |
ORPHA:85167 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Hermansky-Pudlak Syndrome 6 |
|
Ocular albinism, Ecchymosis, Macular hypoplasia, Single umbilical artery, Absent platelet dense g... |
OMIM:614075 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
Sheehan Syndrome |
|
Dry skin, Pallor, Normochromic anemia |
ORPHA:91355 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy, Pallor |
OMIM:617675 |
Tay-Sachs Disease |
|
Pallor, Cherry red spot of the macula |
OMIM:272800 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Coloboma, Corneal opacity, Microphtha... |
ORPHA:2399 |
Neuroblastoma |
|
Anemia, Anemic pallor, Thrombocytopenia |
ORPHA:635 |
Fraser Syndrome 1 |
|
Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia, Hydrocephalus, Corneal o... |
OMIM:219000 |
Esophageal Atresia |
|
Polyhydramnios, Coloboma, Pallor, Absence of stomach bubble on fetal sonography |
ORPHA:1199 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cataract, Hydrops fetalis, Congenital hepatic fibrosis, Agenesis of corpus callosum |
ORPHA:93271 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Pallor |
ORPHA:276621 |
Fetal Akinesia Deformation Sequence 1 |
|
Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... |
OMIM:208150 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Ocular albinism, Abnormality of retinal pigmentation, Optic nerve misrouti... |
ORPHA:79435 |
Microphthalmia, Syndromic 6 |
|
Microcornea, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy |
OMIM:607932 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism |
ORPHA:370091 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Depigmented fundus, Ocular albinism |
OMIM:300500 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis, Pallor, Dehydration |
ORPHA:2131 |
Developmental And Epileptic Encephalopathy 83 |
|
Hypoplasia of the fovea |
OMIM:618744 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
ORPHA:137667 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Pleural effusion, Nonimmune hydrops fetalis, Neonatal death, Single umbilical a... |
OMIM:265380 |
Generalized Arterial Calcification Of Infancy |
|
Choroidal neovascularization, Fetal distress, Ascites, Polyhydramnios, Angioid streaks of the fun... |
ORPHA:51608 |
Phocomelia, Schinzel Type |
|
Meningocele, Hydrops fetalis |
ORPHA:2879 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth |
OMIM:602522 |
Achromatopsia 2 |
|
Myopic astigmatism, Retinal thinning, Dull foveal reflex, Peripapillary atrophy, Hypoplasia of th... |
OMIM:216900 |
Mend Syndrome |
|
Cataract, Redundant neck skin, Anterior polar cataract, Macular hypoplasia, Hydrocephalus |
OMIM:300960 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Hermansky-Pudlak Syndrome 8 |
|
Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides, Iris tran... |
OMIM:614077 |
Branchiooculofacial Syndrome |
|
Cataract, Retinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma |
OMIM:113620 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, True anophthalmia, Hydrocephalus, Microphthalmia |
ORPHA:1106 |
Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Optic nerve misrouting, Hypoplasia of... |
ORPHA:79432 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Iris hypopigmentation, Abnormal opt... |
ORPHA:79434 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
Yunis-Varon Syndrome |
|
Cataract, Polyhydramnios, Redundant neck skin, Agenesis of corpus callosum, Sclerocornea, Hydrops... |
OMIM:216340 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor, Prominent corneal nerve fibers |
ORPHA:653 |
Fraser Syndrome |
|
Abnormal hair pattern, Anophthalmia, Microphthalmia |
ORPHA:2052 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Microcornea, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Colobo... |
ORPHA:959 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Iris hypopigmentation, Abnormal optic nerve morphology, Ocular albinism |
ORPHA:79431 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia... |
OMIM:164210 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Lateral ventricle dilatation, Cholestasis, Congenital hepatic fibrosis, Neonatal death, Prolonged... |
OMIM:619534 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Macular hypoplasia, Microcornea, Astigmatism |
ORPHA:1675 |
Microphthalmia, Syndromic 1 |
|
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Ciliary body coloboma, Anophthalmia, Mi... |
OMIM:309800 |
Cardiac Valvular Dysplasia 1 |
|
Hydrops fetalis, Edema |
OMIM:212093 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Blue irides, Astigmatism, Ocular albinism |
OMIM:203100 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remna... |
OMIM:619539 |
Goodpasture Syndrome |
|
Anemia, Pallor |
OMIM:233450 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Stillbirth, Biliary tract abnormality, Coloboma, Corneal opacity, Fro... |
OMIM:268300 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Low 5-minute APGAR score, Pallor, Low 1-minute APGAR score |
ORPHA:99125 |