| Renal Glucosuria |
|
Polyphagia, Enuresis nocturna, Glycosuria, Polydipsia, Polyuria |
OMIM:233100 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Leptin Receptor Deficiency |
|
Polyphagia, Abnormal eating behavior, Delayed puberty, Abnormal hypothalamus morphology, Diabetes... |
OMIM:614963 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Diabetes mellitus, Polydipsia, Polyuria |
OMIM:222100 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
| Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Periglomerular fibrosis, Polydipsia, Polyuri... |
OMIM:619468 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hypothalamic lute... |
ORPHA:231720 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Ataxia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer... |
ORPHA:158048 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
| Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... |
OMIM:604387 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... |
OMIM:606966 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Glutathione Synthetase Deficiency |
|
Intention tremor, Ataxia, Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Ataxia-Pancytopenia Syndrome |
|
Distal sensory impairment, Ataxia, Anemia, Impaired vibration sensation in the lower limbs, Hypop... |
OMIM:159550 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:616963 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria, Diabetes insipidus |
ORPHA:95626 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Nephrocalcinosis, Medullary nephrocalcinosis, Hy... |
OMIM:143880 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Dystonia |
OMIM:610181 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Hypercalciuria, Polydipsia, Polyuria, Decreased circulat... |
OMIM:613677 |
| Senior-Loken Syndrome 3 |
|
Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polydip... |
OMIM:606995 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Senior-Loken Syndrome 1 |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,... |
OMIM:266900 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia |
OMIM:610738 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Chronic kidney disease, Ren... |
OMIM:248250 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Polyuria |
OMIM:618314 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... |
OMIM:241600 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Po... |
ORPHA:2704 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... |
OMIM:614470 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... |
OMIM:603552 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Anemia, Lymphopenia, Increased serum iron, Increased circulating... |
OMIM:604250 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613550 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death |
OMIM:602199 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Panhypophysitis |
|
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... |
ORPHA:95513 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Micropenis, Decreased serum estradiol, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
| Dystonia 30 |
|
Hypothalamic hamartoma, Impulsivity |
OMIM:619291 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia, Anemia |
OMIM:619302 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Polyuria, Diabetes insipidus, Megacystis |
OMIM:304800 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Polyuria, Megacystis, Nephrogenic diabetes insipidus |
OMIM:125800 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Specific Granule Deficiency 1 |
|
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, A... |
OMIM:267700 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased circulating renin level, Increased mean corpuscular hem... |
ORPHA:90041 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Anemia, Chorea, Thrombocytopenia, Choreoathetosis, Dystonia, Neutropenia |
ORPHA:289916 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
| Multiple Myeloma |
|
Paresthesia, Anemia, Hyperproteinemia, Splenomegaly, Hypercalcemia, Elevated circulating creatini... |
ORPHA:29073 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Urinary retention, Uric aci... |
ORPHA:976 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Enuresis, Hyperaldosteronism, Hypocalciuria, Renal sodium wasting, Salt craving, Renal potassium ... |
OMIM:612780 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... |
OMIM:614723 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus |
ORPHA:30925 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Meningioma |
|
Focal T2 hypointense thalamic lesion, Increased circulating prolactin concentration, Urinary inco... |
ORPHA:2495 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hyperaldosteronism, Hyperchloriduria, Hypernatriuria, Decreased glomer... |
OMIM:602522 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Craniopharyngioma |
|
Polyphagia, Delayed puberty, Hypopituitarism, Hypogonadism, Increased circulating prolactin conce... |
ORPHA:54595 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... |
OMIM:150550 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hypercalciuria, Polydipsia, Aminoaciduria, Polyur... |
OMIM:239200 |
| Bartter Syndrome, Type 3 |
|
Hyperaldosteronism, Nephrocalcinosis, Hyperchloriduria, Increased urinary potassium, Impaired ren... |
OMIM:607364 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Mi... |
ORPHA:398063 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Thrombocytopenia, Pancytopenia, Lymphocytosis... |
OMIM:308240 |
| Immunodeficiency 46 |
|
Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
| East Syndrome |
|
Enuresis, Hyperaldosteronism, Renal magnesium wasting, Abnormal urinary electrolyte concentration... |
ORPHA:199343 |
| Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Micropenis, Renal cyst, Hypogonadism, Polydipsia, Polyuria |
OMIM:615994 |
| Helix Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Hypocalciuria, Polydipsia, Nephrolithiasis, Polyuria |
OMIM:617671 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Apparent Mineralocorticoid Excess |
|
Abnormality of circulating cortisol level, Nephrocalcinosis, Renal insufficiency, Decreased circu... |
ORPHA:320 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Polyphagia, Micropenis, Hypogonadism, Central hypothyroidism, Absence of pubertal development, Sm... |
ORPHA:398079 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Eosinophilia, Thromb... |
OMIM:603554 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Anemia, Choreoathetosis, Thrombocytopenia, Splenomegaly, Dystonia, Neutropenia |
ORPHA:79312 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Incre... |
OMIM:613090 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hyponatremia, ... |
OMIM:603553 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia, Anemia |
OMIM:617056 |
| Cystinosis |
|
Delayed puberty, Proteinuria, Renal insufficiency, Nephrogenic diabetes insipidus, Nephropathy, R... |
ORPHA:213 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
| Central Diabetes Insipidus |
|
Nocturia, Polydipsia, Diabetes insipidus |
ORPHA:178029 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Hyperpituitarism, Hypogonadism, Increased circulating prolactin concentration, Neoplasm of the an... |
ORPHA:91351 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Micropenis, Unilateral renal agenesis, Decreased circulating follicle stimula... |
OMIM:308750 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Impaired pain sensation, Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Renal cortical hype... |
OMIM:220150 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... |
ORPHA:90362 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... |
OMIM:618986 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Abnormal natural killer cell count, Thrombocytope... |
ORPHA:158061 |
| Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati... |
ORPHA:2260 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Polyphagia, Micropenis, Precocious puberty, Central hypothyroidism, Hypogonadism, Small pituitary... |
ORPHA:398069 |
| Amelogenesis Imperfecta, Type Ig |
|
Enuresis, Nephrocalcinosis, Renal insufficiency, Polyuria, Impaired renal concentrating ability |
OMIM:204690 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema |
ORPHA:103910 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Chronic kidney disease, Diabetes mellitus, Renal salt wasting, Hyperechogenic kidney... |
OMIM:613845 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Polyuria, Increased circulating renin level, Hypercalciuria |
OMIM:300971 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Attention deficit hyperactivity disorder, Micropenis, Impulsivity |
OMIM:618929 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Polydipsia, Secretory adrenocortical adenoma, De... |
ORPHA:403 |
| Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Leukopenia |
ORPHA:99828 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:572 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Proximal tubulopathy, Type I diabetes mellitus |
OMIM:560000 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypercalciuria, Polydipsia, Glucocortocoid-insen... |
ORPHA:251274 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Polyuria, Nephrocalcinosis |
OMIM:620152 |
| Gitelman Syndrome |
|
Enuresis, Delayed puberty, Increased circulating renin level, Renal magnesium wasting, Hypocalciu... |
OMIM:263800 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, B lymphocytope... |
OMIM:619705 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hydroureter, Functional abnormality of the bladder, Renal insufficiency, Nephr... |
ORPHA:223 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Dysphagia, Decreased thalamic volume |
OMIM:613668 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Renal insufficiency |
OMIM:615986 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Hyperlipidemia, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
| Slc35A1-Cdg |
|
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| Immunodeficiency 105 |
|
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... |
OMIM:619924 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Proteinuria, Acute kidney injury, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Fo... |
ORPHA:567548 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... |
ORPHA:486 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Micropenis, Unilateral renal agenesis, Decreased circulating follicle stimula... |
OMIM:308700 |
| Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
| Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
| Non Rare In Europe: Central Precocious Puberty |
|
Isosexual precocious puberty, Hypothalamic hamartoma, Increased circulating gonadotropin level, P... |
ORPHA:759 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Polydipsia, Glucocortocoid-insensitive primary ... |
ORPHA:231580 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hepatosplenomegaly, Hypoproteinemia, Somatic sensory dysfunction, Hemopha... |
ORPHA:167 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Ataxia, Neutropenia |
OMIM:603585 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Fluctuating sp... |
OMIM:619220 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Chronic kidney disea... |
ORPHA:84081 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Anemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
| Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Hema... |
OMIM:612925 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Agranulocytos... |
OMIM:301078 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia |
OMIM:615387 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Propionic Acidemia |
|
Hyperammonemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, Dystonia, Neutropenia |
OMIM:606054 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Horseshoe kidney, Renal Fanconi syndro... |
ORPHA:93111 |
| Adenohypophysitis |
|
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... |
ORPHA:95512 |
| Specific Granule Deficiency 2 |
|
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
| Arima Syndrome |
|
Polycystic kidney dysplasia, Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, ... |
OMIM:243910 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Thrombocytopenia, Hyperglycinemia, Neutropenia |
OMIM:251000 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hyperammonemia, Anemia, Thrombocytopeni... |
ORPHA:292 |
| Cystinosis, Nephropathic |
|
Delayed puberty, Diabetes mellitus, Male hypogonadism, Proteinuria, Renal Fanconi syndrome, Nephr... |
OMIM:219800 |
| Distal Renal Tubular Acidosis |
|
Hypocitraturia, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesiuria, Renal c... |
ORPHA:18 |
| Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Polydipsia, Abnormality of the hypoth... |
ORPHA:3157 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Polydipsia, Nephrolithiasis,... |
ORPHA:369929 |
| Juvenile Nephropathic Cystinosis |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Renal... |
ORPHA:411634 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:88 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Thrombocytopenia, Normochromic anemia, Elevated circulating propionylcarn... |
OMIM:614857 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... |
ORPHA:98850 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperaldosteronism, Nephrocalcinosis, Hyperchloriduria, Increased urinary potassium, Hyperprostag... |
OMIM:241200 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency,... |
ORPHA:2235 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count |
OMIM:619752 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Tremor, Hyperlipidemia, Hypert... |
ORPHA:247585 |
| Proximal Renal Tubular Acidosis |
|
Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Hypercalciuria, Ne... |
ORPHA:47159 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytopenia, Erythroid hypop... |
ORPHA:101096 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Anuria |
OMIM:612924 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Ataxia, Neutropenia |
OMIM:620012 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal hypothalamus morphology |
ORPHA:314621 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... |
OMIM:615518 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dysphagia, Thalamic calcification |
OMIM:618317 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... |
OMIM:226990 |
| Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia |
OMIM:256300 |
| Pediatric-Onset Graves Disease |
|
Polyphagia, Goiter, Graves disease, Hyperactivity, Puberty and gonadal disorders, Increased circu... |
ORPHA:525731 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Anuria |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Anuria |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Anuria |
OMIM:612926 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis |
OMIM:619281 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hyperammonemia, Craniofacial dystonia, Neutropenia |
OMIM:618253 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal hamartoma, Nephrocalcinosis, Renal cyst, Elevated circulating parathyroid hormone level, Re... |
ORPHA:99880 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Pgm3-Cdg |
|
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Ataxia, Decre... |
ORPHA:443811 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Attention deficit hyperactivity disorder, Hypothalamic hamartoma, Hypothyroidism |
OMIM:619908 |
| Semilobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Attention deficit hyperactivity disorder, Decreased r... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Attention deficit hyperactivity disorder, Decreased r... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Attention deficit hyperactivity disorder, Decreased r... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Attention deficit hyperactivity disorder, Decreased r... |
ORPHA:93924 |
| Methylmalonic Aciduria, Cblb Type |
|
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... |
OMIM:251110 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Disinhibition, T2 hypointense thalamus |
OMIM:618193 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
| Wolcott-Rallison Syndrome |
|
Hyperammonemia, Hyperbilirubinemia, Lymphocytosis, Hypoalbuminemia, Iron deficiency anemia, Hypon... |
ORPHA:1667 |
| Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Impaired neutrophil bact... |
OMIM:214500 |
| Parathyroid Carcinoma |
|
Renal hamartoma, Parathyroid carcinoma, Nephrocalcinosis, Renal cyst, Elevated circulating parath... |
ORPHA:143 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... |
OMIM:601775 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperaldosteronism, Nephrocalcinosis, Hyperchloriduria, Increased urinary potassium, Hyperprostag... |
OMIM:601678 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
| Methylmalonic Aciduria, Cbla Type |
|
Hyperammonemia, Methylmalonic acidemia, Anemia, Tremor, Thrombocytopenia, Pancytopenia, Hyperglyc... |
OMIM:251100 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
| Transcobalamin Ii Deficiency |
|
Ataxia, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Pancytopenia, Neutropenia |
OMIM:275350 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration |
OMIM:214150 |
| Infantile Nephropathic Cystinosis |
|
Abnormal tubulointerstitial morphology, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunc... |
ORPHA:411629 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Leukocytosis, Anemia, Elevated circulating creatine kinase concentration, Spleno... |
OMIM:615895 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of the adrenal glands, Abnormal hypothalamus morphology, Restlessness, Intrarenal abs... |
ORPHA:68 |
| Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
| Developmental And Epileptic Encephalopathy 66 |
|
Neutropenia, Anemia |
OMIM:618067 |
| Leptospirosis |
|
Thrombocytopenia, Hyperproteinemia |
ORPHA:509 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration... |
OMIM:613179 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia |
OMIM:608093 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Neutropenia, Anemia |
OMIM:619835 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... |
OMIM:174000 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Alexander Disease Type I |
|
Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypoalbuminemia, Increased circ... |
ORPHA:540 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Renal dysplasia, Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Hypoth... |
OMIM:618183 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Hyperhomocystinemia, Pancytopenia, Hypometh... |
ORPHA:2169 |
| Wolfram Syndrome |
|
Recurrent urinary tract infections, Delayed puberty, Hypogonadism, Diabetes mellitus, Diabetes in... |
ORPHA:3463 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cyclic neutropenia, ... |
ORPHA:2686 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Dysphagia, Hypothalamic atrophy |
ORPHA:2822 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Ataxia, Tremor, Thrombocytopenia, Opisthotonus, Choreoathetosis, Dystonia, Neutropenia |
OMIM:616271 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Thrombocytopenia, Coombs-positive... |
OMIM:304790 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:246400 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia |
ORPHA:47 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hemolytic anemia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:398124 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
| Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Glycosuria, Chronic kidney disease, Beta 2-microglobulinuria,... |
ORPHA:97362 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Nephrocalcinosis, Increased pineal volume, Diabetic ketoacido... |
ORPHA:769 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
| Immunodeficiency 23 |
|
Somatic sensory dysfunction, Hemolytic anemia, Ataxia, Abscess, Lymphopenia, Eosinophilia, Neutro... |
OMIM:615816 |
| Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormal renal physiology, Nephrocalcinosis, Hematuria, Dysuria,... |
ORPHA:93600 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:520 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia, Neutropenia |
ORPHA:391673 |
| Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Central diabetes insipidus |
OMIM:125700 |
| Tubulinopathy-Associated Dysgyria |
|
Attention deficit hyperactivity disorder, Abnormality of thalamus morphology |
ORPHA:467166 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Renal insufficiency |
ORPHA:2165 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Anemia, Methylmalonic acidemia, Cystathioninemia, Thrombocytopenia, Hyperho... |
OMIM:277380 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, B lymphocytopenia, Neutropenia |
OMIM:301081 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Opisthotonus, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
| Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
| Johanson-Blizzard Syndrome |
|
Hypoproteinemia, Anemia |
ORPHA:2315 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
| Felty Syndrome |
|
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:47612 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Microcytic a... |
OMIM:251900 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperammonemia, Ataxia, Hyperalaninemia, Choreoathetosis, Dystonia, Neutropenia |
OMIM:615471 |
| Barth Syndrome |
|
Hypochromic microcytic anemia, Cyclic neutropenia, Granulocytopenia, Neutropenia |
OMIM:302060 |
| Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon, Renal hypoplasia/aplasia |
ORPHA:2570 |
| Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Anemia, Lymphopenia, Hyperlipidemia, Thrombocytopenia,... |
ORPHA:1830 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... |
ORPHA:26793 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:613989 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Gitelman Syndrome |
|
Delayed puberty, Maternal diabetes, Decreased urinary potassium, Renal potassium wasting, Protein... |
ORPHA:358 |
| Pallister-Hall-Like Syndrome |
|
Renal dysplasia, Anterior hypopituitarism, Hypothalamic hamartoma, Micropenis |
OMIM:241800 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... |
ORPHA:811 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... |
ORPHA:91547 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:1959 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia, Splenomegaly |
OMIM:235255 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemi... |
ORPHA:79284 |
| Brain-Lung-Thyroid Syndrome |
|
Abnormal eating behavior, Thyroid dysgenesis, Abnormality of the thyroid gland, Hyperactivity, Me... |
ORPHA:209905 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Neutropenia |
ORPHA:508542 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Leukopenia, Elevated circulating creatine kinase concentration, Splenomegaly |
OMIM:604173 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia, Abnormal T cell morphology |
OMIM:242900 |
| Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Acute monocytic leukemia, Anemia, Hypochromic anemia, Lymphocytosis |
ORPHA:514 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia |
ORPHA:86843 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Thrombocytopenia, Hypoalbuminemia, Splenomegaly, Neutropenia |
OMIM:617303 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Oligohydramnios |
OMIM:208085 |
| Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Megaloblastic anemia, Tremor, Cystathioninemia, Thrombocytopenia, Hyperho... |
OMIM:277400 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia, Splenomegaly |
ORPHA:1655 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Dystonia, Neutropenia |
OMIM:617050 |
| Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
| Genetic Recurrent Myoglobinuria |
|
Recurrent myoglobinuria, Acute kidney injury, Exercise-induced myoglobinuria, Renal insufficiency... |
ORPHA:99845 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... |
ORPHA:37042 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Dehydration, Oligohydramnios, Neonatal death |
OMIM:263200 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... |
ORPHA:54251 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration |
ORPHA:171876 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Lymphopenia, Macrocytic anemi... |
OMIM:250250 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell count, Thrombocytopenia,... |
OMIM:608233 |
| Sepsis In Premature Infants |
|
Leukocytosis, Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Sp... |
ORPHA:90051 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Chronic neutropenia, Autoimmune thrombocyt... |
OMIM:614700 |
| Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Renotubular dysgenesis |
OMIM:267430 |
| Netherton Syndrome |
|
Dehydration |
ORPHA:634 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Diabetes insipidus, Renal insufficiency, Polydipsia, Dysuria, Hypogonadotropic hy... |
ORPHA:35687 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatosplenomegaly, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leukopenia, Anemia, ... |
OMIM:612541 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Acute leukemia, Abnormal neutrophil ... |
ORPHA:3226 |
| Duplication Of Urethra |
|
Recurrent urinary tract infections, Micropenis, Rectourethral fistula, Epispadias, Urinary incont... |
ORPHA:237 |
| Secondary Short Bowel Syndrome |
|
Dehydration |
ORPHA:95427 |
| Aspergillosis |
|
Neutropenia, Eosinophilia |
ORPHA:1163 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Dysphagia, T2 hypointense thalamus |
ORPHA:1947 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:600901 |
| Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
| Kallmann Syndrome |
|
Delayed puberty, Micropenis, Hypoplasia of penis, Hypothalamic gonadotropin-releasing hormone def... |
ORPHA:478 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
| Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Increased prop... |
OMIM:617099 |
| Leigh Syndrome |
|
Ataxia, Anemia, Hyperalaninemia, Athetosis, Chorea, Choreoathetosis, Dystonia, Neutropenia |
ORPHA:506 |
| Beta-Ketothiolase Deficiency |
|
Dehydration, Edema |
ORPHA:134 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysphagia, Abnormality of the urethra, Polydipsia, Dysuria |
ORPHA:537 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... |
OMIM:260400 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Abnormality of thalamus morphology |
ORPHA:557003 |
| Whipple Disease |
|
Polydipsia, Hypothyroidism |
ORPHA:3452 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... |
OMIM:617052 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polyphagia, Delayed puberty, Enuresis, Increased circulating prolactin concentration, Central hyp... |
ORPHA:293987 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Delayed puberty, Micropenis, Hypergonadotropic hypogonadism, Abnormality of thalamus morphology, ... |
ORPHA:2959 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:227650 |
| X-Linked Lymphoproliferative Disease |
|
Hepatosplenomegaly, Absent natural killer cells, Aplastic anemia, Hemophagocytosis, Granulomatosi... |
ORPHA:2442 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... |
ORPHA:911 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Elevated circulating C-reactive protein c... |
OMIM:619644 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Agitation |
OMIM:619046 |
| Whim Syndrome |
|
Abnormality of neutrophil morphology, Limb ataxia, Lymphopenia, Neutropenia |
ORPHA:51636 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia |
OMIM:308230 |
| Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Reticulocytopenia, Hypoplastic anemia, Hyperbilirubinemi... |
OMIM:557000 |
| Vici Syndrome |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, T lymphocytopenia, D... |
OMIM:242840 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Leukocytosis, Elevated circulating C-reactive protein c... |
ORPHA:829 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia |
OMIM:607944 |
| Fusariosis |
|
Lung abscess, Granuloma, Lymphopenia, Abnormality of the spleen, Brain abscess, Neutropenia |
ORPHA:228119 |
| Cach Syndrome |
|
Dysphagia, T2 hypointense thalamus, Renal hypoplasia |
ORPHA:135 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
