Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Thrombocytopenia 5 |
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B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Intrinsic Factor Deficiency |
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Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Bone Marrow Failure Syndrome 6 |
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Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... |
ORPHA:232 |
Erythrocytosis, Familial, 1 |
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Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Familial Pseudohyperkalemia |
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Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased m... |
OMIM:616959 |
Methylcobalamin Deficiency Type Cble |
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Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Majeed Syndrome |
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Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Diamond-Blackfan Anemia 7 |
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Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
Immunodeficiency 96 |
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Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia... |
OMIM:127550 |
Immunodeficiency 60 And Autoimmunity |
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Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Beta-Thalassemia Intermedia |
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Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia |
ORPHA:261250 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Gaisböck Syndrome |
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Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Acute Interstitial Pneumonia |
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Reduced hematocrit |
ORPHA:79126 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Castleman Disease |
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Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Progressive Supranuclear Palsy |
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Abnormal synaptic transmission |
ORPHA:683 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
Eisenmenger Syndrome |
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Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... |
ORPHA:97214 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Normochromic anemia, Reduced... |
ORPHA:91500 |
Atelis Syndrome 2 |
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Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia |
OMIM:620185 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Pierson Syndrome |
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Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr... |
OMIM:609049 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system |
ORPHA:637 |
Holoprosencephaly 2 |
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Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:300166 |
Neuroocular Syndrome |
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Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
Norrie Disease |
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Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy |
ORPHA:649 |