Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
Overhydrated Hereditary Stomatocytosis |
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Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... |
OMIM:615631 |
Iron-Refractory Iron Deficiency Anemia |
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Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Reticuloendotheliosis, X-Linked |
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Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... |
OMIM:300835 |
Hemoglobin D Disease |
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Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
Rh-Null, Amorph Type |
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Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:617970 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... |
OMIM:616860 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
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Lymphadenopathy |
ORPHA:319600 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... |
OMIM:224120 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
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Abnormal lymph node morphology |
OMIM:136580 |
Pandas |
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Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Rh Deficiency Syndrome |
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Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... |
ORPHA:71275 |
Immunodeficiency 75 With Lymphoproliferation |
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Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... |
OMIM:619126 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Orotic Aciduria |
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Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Anemia, Hypochromic microcytic anemia, Depression, Howell-Jolly bodies, Poikilocytosis, Siderobla... |
OMIM:301310 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
Dominant Beta-Thalassemia |
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Irritability, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration,... |
ORPHA:231226 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior |
ORPHA:208441 |
Kimura Disease |
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Follicular hyperplasia, Eosinophilia, Lymphadenopathy |
ORPHA:482 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Irritability, Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocyt... |
OMIM:618278 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Anisocytosis |
OMIM:604273 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... |
ORPHA:3077 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, Aplasia of the... |
OMIM:602450 |
Aregenerative Anemia |
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Lymphadenopathy, Erythroid hypoplasia, Pancytopenia, Depression, Emotional lability, Abnormal pro... |
ORPHA:101096 |
Leukocyte Adhesion Deficiency, Type Iii |
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Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedu... |
OMIM:612840 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... |
ORPHA:276 |
Porphyria Due To Ala Dehydratase Deficiency |
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Agitation, Abnormal fear-induced behavior, Depression, Abnormal erythrocyte enzyme concentration ... |
ORPHA:100924 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... |
OMIM:613179 |
Congenital Erythropoietic Porphyria |
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Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... |
ORPHA:79277 |
Meige Disease |
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Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Gm2 Gangliosidosis, Ab Variant |
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Inappropriate behavior, Abnormal fear-induced behavior |
ORPHA:309246 |
Agammaglobulinemia, X-Linked |
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Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia |
OMIM:300755 |
Pituitary Adenoma 4, Acth-Secreting |
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Emotional lability, Abnormal fear-induced behavior |
OMIM:219090 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... |
ORPHA:353277 |