| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Ataxia, Neutropenia |
OMIM:266130 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Enlarged k... |
OMIM:615285 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronep... |
OMIM:598500 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia, Abnormal urine carbohydrate level |
ORPHA:2056 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Choreoathetosis, Anemia, Renal tubular dysfunction, Neutropenia, Lethargy, T... |
ORPHA:289916 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
ORPHA:79312 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... |
OMIM:251000 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... |
OMIM:150550 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic a... |
OMIM:275350 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Propionic Acidemia |
|
Pancytopenia, Hypoglycemia, Increased level of hippuric acid in urine, Hyperglycinuria, Anemia, N... |
OMIM:606054 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absen... |
OMIM:619705 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:603585 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic ... |
OMIM:304790 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m... |
OMIM:301078 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Lethargy, Hyperglycemia, Thrombocytopenia |
ORPHA:391673 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic aciduria, Normochromic anemia, Neutropenia, Lethargy, Homocystinuria, Thrombocytopenia |
OMIM:614857 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Choreoathetosis, Nephrocalcinosis, 3-Methylglutaconic aciduria, ... |
ORPHA:445038 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Loss of ambulation, Hypoglycemia, Hypospadias, Neutropenia |
OMIM:618253 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Anemia, Neutropenia |
OMIM:618067 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
OMIM:251110 |
| Evans Syndrome |
|
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... |
ORPHA:1959 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep... |
ORPHA:69076 |
| Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes |
ORPHA:464370 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Increased mean corpuscular volume, Ne... |
ORPHA:2169 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, 3-Methylglutaconic aciduria, Gait disturbance,... |
OMIM:302060 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
| Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Thrombocytopenia, Splenomegaly, Neutropenia, L... |
OMIM:214500 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, An... |
OMIM:251100 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:614520 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hypercalciuria, 3-Methyl... |
OMIM:557000 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Ataxia, Neutropenia |
OMIM:620012 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Ab... |
OMIM:242900 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Difficulty walking, Neu... |
OMIM:251900 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Cystathioninuria, Methylmalonic aciduria, Anemia, Neutropenia... |
OMIM:277380 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Neutropenia, Lethargy |
ORPHA:79284 |
| Pgm3-Cdg |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T... |
ORPHA:443811 |
| Wolcott-Rallison Syndrome |
|
Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Iron d... |
ORPHA:1667 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Neonatal hypoglycemia, Choreoathetosis, Leukopenia, 3-Methylglutaconic aciduria, Neutrope... |
OMIM:616271 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Splenomegaly, Inability to walk, Anemia, Leukopenia, Nephrotic syndrome, Focal segme... |
OMIM:617303 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Hematuria, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci... |
OMIM:262190 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephrocalcinosis, Neut... |
OMIM:260400 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,... |
OMIM:600901 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis... |
ORPHA:158048 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... |
ORPHA:124 |
| Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocytopenia, Stage 5 ... |
ORPHA:1830 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Ataxia, Eosinophilia, Abscess, Neutro... |
OMIM:615816 |
| X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Recurrent cutaneous abscess formation, Anemia, Neutropenia |
ORPHA:47 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter... |
OMIM:612562 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,... |
OMIM:227650 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Felty Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal renal physiology, Thrombocytopenia |
ORPHA:540 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria |
OMIM:222100 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
| Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Neutropenia |
OMIM:609053 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia |
ORPHA:293173 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Leigh Syndrome |
|
Ataxia, Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Choreoat... |
ORPHA:506 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis, Hypoglycemia, Neutropenia |
OMIM:618005 |
| Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia |
ORPHA:621 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Hypoglycemia, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Neu... |
OMIM:232220 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,... |
OMIM:227645 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Vacuolated l... |
ORPHA:167 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Ataxia, Hypospadias, Choreoathetosis, Renal tubular acidosis, Neutropenia |
OMIM:615471 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias |
OMIM:250790 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... |
ORPHA:37042 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Ataxia, Hypoglycemia, Megaloblastic anemia, Hemolytic-uremic synd... |
ORPHA:79282 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
| Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Oliguria, Anemia, Reversible renal failure, Neutropenia, Thrombocytop... |
ORPHA:90051 |
| Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Micropenis, Anemia, Neutropeni... |
OMIM:227646 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen... |
OMIM:618460 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenome... |
OMIM:613179 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
| Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemolytic-uremic syn... |
OMIM:619644 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Renal insufficiency, Proteinuria, Splen... |
ORPHA:699 |
| Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Hematuria, Acute kidney injury, Thrombocytopenia |
ORPHA:91547 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... |
OMIM:105650 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulointerstitial fibr... |
OMIM:607944 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:537 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Chronic neutropenia, Proteinuria, Stage 5 chronic kidney disease, Hypoglycemic seiz... |
ORPHA:79259 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Hypoglycemia, Cyclic neutropenia, Proteinuria, Hematuria, Focal segmental gl... |
OMIM:232240 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
| Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Neutrophilia, Leukocytosis, Leukopenia, Lethargy |
ORPHA:36238 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Inability to walk, Urinary retention, Ataxia, Neutropenia |
OMIM:617799 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Whim Syndrome |
|
Lymphopenia, Abnormal neutrophil morphology, Limb ataxia, Neutropenia |
ORPHA:51636 |
| Insulin-Resistance Syndrome Type B |
|
Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, H... |
ORPHA:2298 |
| Trichothiodystrophy |
|
Gait ataxia, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
| Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:242840 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
| Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:2909 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neonatal hypoglycemia, Neutropenia |
OMIM:617248 |
| Cartilage-Hair Hypoplasia |
|
Mucopolysacchariduria, Anemia, Neutropenia |
ORPHA:175 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ... |
ORPHA:391487 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Hypospadias, Neutropenia, Vesicoureteral reflux, Micropenis |
ORPHA:163956 |
| Rothmund-Thomson Syndrome Type 1 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221008 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Renal insufficiency, Eosinophilia, Glomerulonephrit... |
ORPHA:3261 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... |
ORPHA:99867 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Neutropenia |
ORPHA:79430 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
| Pediatric-Onset Graves Disease |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia |
ORPHA:525731 |
| Lead Poisoning |
|
Chronic kidney disease, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Renal tubula... |
ORPHA:330015 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Bifid ureter, Enlarged ... |
ORPHA:500095 |
| Zygomycosis |
|
Brain abscess, Renal insufficiency, Diabetes mellitus, Neutropenia, Splenic abscess, Nephritis |
ORPHA:73263 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... |
OMIM:301040 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Renal cyst, Bifid ureter |
OMIM:617107 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
| 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 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Neutropenia, Mo... |
ORPHA:95455 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Sponastrime Dysplasia |
|
Hypospadias, Neutropenia |
ORPHA:93357 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Falls, Ataxia, Increased urine alpha-ketoglutarate concentration |
OMIM:619224 |
| Gastrointestinal Stromal Tumor |
|
Anemia |
ORPHA:44890 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Loss of ambulation, Ataxia, Vesicoureteral reflux |
ORPHA:3208 |
| Cowden Syndrome |
|
Abnormal penis morphology, Ataxia |
ORPHA:201 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Elevated urinary catecholamine level |
OMIM:115310 |
| Gastrointestinal Stromal Tumor |
|
|
OMIM:606764 |
| Paraganglioma And Gastric Stromal Sarcoma |
|
|
OMIM:606864 |
| Carney-Stratakis Syndrome |
|
|
ORPHA:97286 |
