Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Thrombocytosis, Asplenia |
OMIM:271400 |
Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... |
OMIM:618963 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... |
ORPHA:2133 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency 27A |
|
Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... |
OMIM:209950 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A... |
ORPHA:251380 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia |
OMIM:604416 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Primary Myelofibrosis |
|
Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Poikilocytosis, Hepatospleno... |
ORPHA:824 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
Heme Oxygenase 1 Deficiency |
|
Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervical lymphadenop... |
OMIM:614034 |
Essential Thrombocythemia |
|
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... |
ORPHA:3318 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia |
OMIM:133180 |
Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... |
OMIM:619130 |
Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... |
OMIM:619126 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... |
ORPHA:444463 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
Spherocytosis, Type 5 |
|
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... |
OMIM:612690 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:237800 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Kimura Disease |
|
Follicular hyperplasia, Eosinophilia, Lymphadenopathy |
ORPHA:482 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... |
OMIM:615934 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Microcytic anemia, Lymphadenopathy, Recurrent tonsillitis |
OMIM:618852 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... |
OMIM:619846 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Anemia, Thrombocytosis, Iron deficiency anemia |
OMIM:226300 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... |
OMIM:301083 |
Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... |
OMIM:619652 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... |
OMIM:300835 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia |
ORPHA:848 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:620481 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... |
OMIM:618849 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplas... |
OMIM:243150 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
Spherocytosis, Type 2 |
|
Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia |
OMIM:616649 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Familial Thrombocytosis |
|
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia |
ORPHA:71493 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Polycythemia Vera |
|
Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis |
ORPHA:729 |
Poems Syndrome |
|
Lymphadenopathy, Polycythemia, Thrombocytosis, Splenomegaly |
ORPHA:2905 |
Autoerythrocyte Sensitization Syndrome |
|
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... |
ORPHA:324636 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Bone marrow hypocellularity, Leukopenia, Hep... |
OMIM:615688 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, Aplasia of the... |
OMIM:602450 |
Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, Hepatosplenome... |
OMIM:612840 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:617970 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Iron deficiency anemia, Macrocytic anemia |
OMIM:212750 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Generalized lymphadenopathy, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hep... |
ORPHA:3260 |
Spherocytosis, Type 1 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anemia, Thrombocytosis, Leukopenia, Leukocytosis |
ORPHA:20 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis |
ORPHA:134 |
Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Decreased proportion of memory B cells, Re... |
OMIM:301074 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia |
OMIM:615486 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Syndromic Diarrhea |
|
Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymphopenia, Thrombocytosis |
ORPHA:84064 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... |
OMIM:613179 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Thrombocytosis, Splenomegaly |
OMIM:222470 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis |
OMIM:618213 |
Brucellosis |
|
Anemia, Lymphadenopathy, Leukocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Thrombocytosis... |
ORPHA:1304 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... |
ORPHA:276 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Thrombocytopenia, Leukocytosis |
ORPHA:94093 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... |
ORPHA:231222 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Kawasaki Disease |
|
Thrombocytosis, Leukocytosis, Cervical lymphadenopathy |
ORPHA:2331 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... |
ORPHA:231214 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent tonsillitis, Impaired platelet aggregation, Leukocytosis, Abnor... |
ORPHA:2968 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F |
OMIM:619769 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Agammaglobulinemia, X-Linked |
|
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia |
OMIM:300755 |
Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Alkaptonuria |
|
Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |