Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia-Like |
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Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin D Disease |
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Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
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Steroid-responsive anemia, Erythroid hypoplasia, Anemia |
OMIM:618312 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Transient Erythroblastopenia Of Childhood |
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Anemia, Transient erythroblastopenia |
OMIM:227050 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Hemoglobin H Disease |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
Beta-Thalassemia |
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Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
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Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Anemia, Sideroblastic, 4 |
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Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Heinz Body Anemias |
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Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Hemoglobin E Disease |
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Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Woronets Trait |
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Red blood cell keratocytosis |
OMIM:194320 |
Congenital Amegakaryocytic Thrombocytopenia |
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Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
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Compensated hemolytic anemia |
OMIM:142309 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
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Nonspherocytic hemolytic anemia |
OMIM:102800 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
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Nonspherocytic hemolytic anemia |
OMIM:206300 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
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Congenital hemolytic anemia |
OMIM:235370 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
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Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
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Hemolytic anemia |
OMIM:172150 |
Premature Ovarian Failure 3 |
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Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly |
ORPHA:846 |
Perrault Syndrome 6 |
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Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... |
OMIM:617565 |
Ovarian Dysgenesis 2 |
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Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:300510 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:618078 |
Premature Ovarian Failure 13 |
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Oligomenorrhea, Female infertility, Amenorrhea, Hypoplasia of the uterus |
OMIM:617442 |
Premature Ovarian Failure 7 |
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Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Hypoplasia of the uter... |
OMIM:612964 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
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Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Premature Ovarian Failure 6 |
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Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Female infertility... |
OMIM:612310 |
Spherocytosis, Type 3 |
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Spherocytosis, Hemolytic anemia |
OMIM:270970 |
Pyropoikilocytosis, Hereditary |
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Microspherocytosis, Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia |
OMIM:266140 |
Ovalocytosis, Southeast Asian |
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Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
Sickle Cell Anemia |
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Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... |
OMIM:613673 |
Premature Ovarian Failure 18 |
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Premature ovarian insufficiency, Hypoplasia of the ovary, Hypoplasia of the uterus, Irregular men... |
OMIM:619203 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... |
OMIM:301083 |
46,Xy Sex Reversal 11 |
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Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Ab... |
OMIM:273250 |
Erythrocytosis, Familial, 3 |
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Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Cryohydrocytosis |
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Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
Leydig Cell Hypoplasia |
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Secondary amenorrhea, Cryptorchidism, Micropenis, Ambiguous genitalia, Primary amenorrhea, Abnorm... |
ORPHA:755 |
Diethylstilbestrol Syndrome |
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Decreased fertility in females, Cryptorchidism, Premature ovarian insufficiency, Micropenis, Abno... |
ORPHA:1916 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Red Cell Permeability Defect |
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Elliptocytosis |
OMIM:179650 |
Hb Bart'S Hydrops Fetalis |
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Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
46,Xy Sex Reversal 7 |
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Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... |
OMIM:233420 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Splenomegaly |
ORPHA:848 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hydatidiform Mole |
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Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Partial Androgen Insensitivity Syndrome |
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Perineal hypospadias, Micropenis, Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Cl... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
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Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Prima... |
ORPHA:99429 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the fallopian tube, Primary amenorrhea, Abnormal external genitalia, Aplasia of the va... |
OMIM:158330 |
Diamond-Blackfan Anemia 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Beta-Thalassemia Intermedia |
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Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231222 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Fanconi Anemia, Complementation Group A |
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Cryptorchidism, Male infertility, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism |
OMIM:227650 |
46,Xx Sex Reversal 2 |
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Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... |
OMIM:278850 |
Fanconi Anemia, Complementation Group E |
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Cryptorchidism, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism |
OMIM:600901 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Dominant Beta-Thalassemia |
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Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... |
ORPHA:231214 |
Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism |
OMIM:227645 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Micropenis, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism |
OMIM:227646 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... |
OMIM:617052 |
Shwachman-Diamond Syndrome 1 |
|
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... |
OMIM:260400 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Diamond-Blackfan Anemia |
|
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Lead Poisoning |
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Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:301040 |