Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:2760 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular v... |
OMIM:612561 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... |
ORPHA:98870 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
Methylcobalamin Deficiency Type Cble |
|
Clinodactyly, Pancytopenia, Syndactyly, Macrocytic anemia, Increased mean corpuscular volume, Neu... |
ORPHA:2169 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... |
OMIM:609628 |
Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... |
ORPHA:3344 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Dystonia, Megaloblastic anemia |
OMIM:277410 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Short stat... |
OMIM:607271 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly |
OMIM:615234 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... |
ORPHA:2502 |
Diamond-Blackfan Anemia 7 |
|
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Short thumb, Neutropenia |
OMIM:612562 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Metaphyseal irregul... |
ORPHA:811 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Diamond-Blackfan Anemia 12 |
|
Triphalangeal thumb, Reticulocytopenia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia |
OMIM:250800 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... |
OMIM:619510 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Pancytopenia, Postnatal growth retardation |
OMIM:600546 |
Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Acute myeloid leukemia, Leukopenia, Absent thumb, Reticulocytopenia, Short t... |
ORPHA:124 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Growth delay, Splenomegaly |
OMIM:619164 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
OMIM:611590 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Proximal placement of thumb, Hip dysplasia |
ORPHA:261250 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ... |
ORPHA:86839 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec... |
ORPHA:300298 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... |
OMIM:300106 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Lymphopenia, Increased circulating... |
ORPHA:277 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... |
OMIM:618108 |
Dominant Beta-Thalassemia |
|
Genu valgum, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Anemia, Long fibula, Lymphopenia |
ORPHA:935 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Intrauterine growt... |
OMIM:615190 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Beta-Thalassemia Major |
|
Genu valgum, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular... |
ORPHA:231214 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... |
ORPHA:231222 |
Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:848 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Impai... |
OMIM:600802 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Limb dystonia, Athetosis |
ORPHA:621 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Delayed puberty, Increased circulating IgE level, Short stature, Postnatal growth retardation |
OMIM:618985 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... |
OMIM:250220 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Metaphyseal sclerosis, Coxa vara, Narrow greater sciatic notch, P... |
OMIM:260400 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... |
OMIM:618278 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... |
OMIM:242700 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased lymphocyte prolif... |
ORPHA:572 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell... |
ORPHA:443811 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Short stature, Decreased circulating IgA le... |
OMIM:242860 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Short toe, Microcytic anemia |
ORPHA:98791 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Stiff-Person Syndrome |
|
Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Iliac crest serration, Short metacarpal, Long fibula, Metaphyseal chondrodysplasia, Short palm, C... |
ORPHA:93317 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Triangular shaped distal phalanges of the hand, Short m... |
OMIM:271665 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
Immunodeficiency 40 |
|
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic granuloma, Growth ... |
OMIM:616433 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Metaphyseal ... |
OMIM:610442 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... |
ORPHA:2442 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Eisenmenger Syndrome |
|
Hypochromic microcytic anemia, Increased mean corpuscular volume, Clubbing, Iron deficiency anemia |
ORPHA:97214 |
Immunodeficiency 55 |
|
Short stature, Lymphopenia, Intrauterine growth retardation, Neutropenia, Absent natural killer c... |
OMIM:617827 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia, Intrauterine growt... |
OMIM:615966 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Short stature, Decreased circulating IgG2 level, Acu... |
OMIM:208900 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... |
OMIM:615607 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Broad long bone diaphyses, Short long bone, Flattened femoral head,... |
ORPHA:79255 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Overlapping toe, Exaggerated startle response |
OMIM:618598 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hip dislocation |
OMIM:149400 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Pancytop... |
ORPHA:79124 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Coxa valga, Tapered finger, Reduced alpha/beta synthesis ratio, Clinodactyly, Hypochromic microcy... |
OMIM:301040 |
Vici Syndrome |
|
Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Lym... |
OMIM:242840 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor, Clinodactyly of the 5th finger |
OMIM:618056 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:847 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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HbH hemoglobin |
ORPHA:423479 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Hyperextensibility of the finger joints, Postaxial foot polydactyly... |
ORPHA:521426 |
Glycine Encephalopathy With Normal Serum Glycine |
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Overlapping toe, Hip contracture, Exaggerated startle response, Hip dislocation |
OMIM:617301 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... |
ORPHA:508533 |
Lead Poisoning |
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Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia |
ORPHA:330015 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Thymic Aplasia |
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T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Coombs-positive hem... |
ORPHA:83471 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Sandhoff Disease |
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Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Long fingers, Postaxial polydactyly, Rocker bottom foot |
OMIM:617527 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Tay-Sachs Disease |
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Exaggerated startle response, Hepatosplenomegaly, Tremor, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response |
OMIM:616881 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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T lymphocytopenia, B lymphocytopenia, Short stature, Neutropenia in presence of anti-neutropil an... |
ORPHA:391487 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Delayed puberty, T lymphocytopenia, Microcytic anemia, Short stature |
ORPHA:2959 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Nijmegen Breakage Syndrome |
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T lymphocytopenia, B lymphocytopenia, Short stature, Autoimmune hemolytic anemia, Dysgammaglobuli... |
OMIM:251260 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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T lymphocytopenia, Short stature, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
Immunodeficiency 82 With Systemic Inflammation |
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Anemia, Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, De... |
OMIM:619381 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology, Short stature |
OMIM:618223 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hip dysplasia, Anemia, Dystonia, Exaggerated startle response |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Short 5th finger, Tapered finger, Short finger, Clinodactyly of the... |
OMIM:619522 |