Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Anemia, Sideroblastic, 5 |
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Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
Polycythemia Vera |
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Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:133100 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:263400 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... |
OMIM:613673 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
Duodenal Neuroendocrine Tumor |
|
Iron deficiency anemia, Increased hematocrit |
ORPHA:100076 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Anemia |
OMIM:184850 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Sandhoff Disease, Infantile Form |
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Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Tay-Sachs Disease |
|
Hepatosplenomegaly, Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Sandhoff Disease |
|
Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Normochromic anemia |
ORPHA:91500 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Anemia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |