| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification, Anemia |
ORPHA:3319 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Anemia |
OMIM:238700 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Hartnup Disorder |
|
Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity |
OMIM:617113 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... |
ORPHA:232 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
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 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Increased bone mineral density |
OMIM:618406 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Agitation |
ORPHA:100973 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Beta-Thalassemia |
|
Reduced bone mineral density, Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, S... |
ORPHA:848 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Inability to walk, Hyperactivity, Gait ataxia, Dysmetria |
OMIM:618090 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Hyperactivity, Broad-based gait |
OMIM:619470 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia, Hyperostosis cra... |
OMIM:231095 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... |
OMIM:613673 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extramedullary hematopoiesis, Dec... |
ORPHA:231222 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
| Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Ataxia, Hyperactivity, Gait ataxia, Broad-based gait |
ORPHA:248111 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Athetosis |
ORPHA:382 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Joint hypermobility, Hyperactivity, Impulsivity |
OMIM:300143 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Osteopenia |
OMIM:608747 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia |
OMIM:612716 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Hyperactivity, Dense calvaria, Splenomegaly |
OMIM:252920 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Limb ataxia, Broad-based gait, Persistence of hemoglobin F, Joint hypermobility, Truncal ataxia |
OMIM:617101 |
| Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Hyperactivity, Dense calvaria, Splenomegaly |
OMIM:252900 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis |
ORPHA:621 |
| Bone Marrow Failure Syndrome 3 |
|
Reduced bone mineral density, Hyperactivity, Aplastic anemia, Anemia, Persistence of hemoglobin F... |
OMIM:617052 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Tracheomalacia, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Joint stiffness, Dense calvaria, Dysphagia, Splenomegaly |
OMIM:252930 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231226 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia,... |
ORPHA:760 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... |
ORPHA:231214 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Lead Poisoning |
|
Anemia, Attention deficit hyperactivity disorder, Imbalanced hemoglobin synthesis, Cranial hypero... |
ORPHA:330015 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Irregular ossification at ant... |
OMIM:260400 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Leukemia, Imbalanced hemoglobin synthesis, Rheumatoid art... |
ORPHA:99867 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Joint stiffness, Anemia |
ORPHA:847 |
| Diamond-Blackfan Anemia |
|
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:301040 |
