Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chlo... |
OMIM:229100 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... |
OMIM:161900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Elevated circ... |
OMIM:617056 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... |
ORPHA:228302 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Glomerulonephr... |
OMIM:607665 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Urachal cyst, Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excisi... |
OMIM:608203 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... |
OMIM:612925 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Nephrotic syndrome, Acute kidney injury, Normocytic anemia, Dysuria, Renal tubula... |
ORPHA:49041 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Anemia, Stage 5 chronic kidney disease, Thickening of the t... |
OMIM:266900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Hyperuricemia, Stage 5 chronic kidne... |
OMIM:174000 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida... |
OMIM:226990 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:157 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:228308 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... |
OMIM:614723 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal hypoplasi... |
OMIM:613092 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... |
OMIM:179800 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Decreased... |
ORPHA:54057 |
Familial Isolated Dilated Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Abnormality of neutrophils |
ORPHA:154 |
Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Proteinuria, Elevated circulating creatinine conc... |
ORPHA:275555 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormality of the kidney, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induce... |
OMIM:155100 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Acute kidney injury, Neutrophilia, Hematuria, Elev... |
ORPHA:91547 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Reduced hematocrit, Renal Fanconi syndrome, Beta 2-m... |
ORPHA:91500 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Decreased circulating total IgM, Decreased circulating antibody level, Ac... |
ORPHA:859 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia |
OMIM:617872 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... |
OMIM:123550 |
Ethylene Glycol Poisoning |
|
Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Hypocalcemia, Hyperkalemia,... |
ORPHA:31826 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... |
ORPHA:79233 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Decreased circulating antibody level, Abnormal macrophage morpholo... |
ORPHA:2585 |
Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
OMIM:615605 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microangiopathic hemolytic anemia, Abnormal renal physiology, Reticulo... |
OMIM:274150 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysu... |
ORPHA:79404 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... |
OMIM:300539 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Decreased ... |
OMIM:617744 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Decreased circulating antibody level, Hyperhomocystinemia, Lymphopenia, Pan... |
OMIM:617780 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... |
OMIM:235400 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... |
OMIM:613470 |
Myh9-Related Disease |
|
Renal insufficiency, Nephritis, Nephropathy, Proteinuria, Giant platelets, Congenital thrombocyto... |
ORPHA:182050 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, R... |
OMIM:616733 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast cells |
ORPHA:98848 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Nephrotic syndrome, Renal interstiti... |
ORPHA:85450 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, B lymphocytopenia, Neutrop... |
OMIM:619281 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Hemolytic anemia, Nephrotic syndrome, Granuloma, Lymphopenia, Hepatosplenomegal... |
OMIM:618935 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Hematuria, Leukocytosis, Proteinuria, Elevated circulating creatinine concentration, Thro... |
ORPHA:90060 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... |
OMIM:214500 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Granulomatosis, G... |
ORPHA:93126 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Par... |
ORPHA:439232 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatospleno... |
ORPHA:167 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Anemia, Elevated circulating creatinine concentration, Thrombocytopenia... |
OMIM:608104 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Multiple Myeloma |
|
Anemia, Decreased circulating antibody level, Acute kidney injury, Nephrotic syndrome, Abnormalit... |
ORPHA:29073 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Methylmalonic aciduria, Hypersegmentation of neutrophil nuclei, Macrocytic anemia |
OMIM:615578 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Acute kidney injury, Dysuria, Moderate albuminuria, Renal tubular epithelial necrosis, He... |
ORPHA:95455 |
Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... |
ORPHA:98850 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... |
ORPHA:2688 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... |
ORPHA:2442 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:33355 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Increased circulating metamyelocyte coun... |
ORPHA:36234 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Decreased plasma free carnitine, Renal dysplasia, Enlarged kidney, Pol... |
OMIM:608836 |
Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral ... |
OMIM:137920 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Unconjugated hype... |
ORPHA:90038 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Specific Granule Deficiency 2 |
|
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Elevated circulating ... |
ORPHA:230 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentrati... |
ORPHA:247691 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Urinary incontinence, Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron d... |
OMIM:618885 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Renal interstitial immunoglobulin ... |
ORPHA:449395 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst, Splenomegaly |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst, Splenomegaly |
OMIM:233710 |
Isolated Agammaglobulinemia |
|
Anemia, Abnormality of neutrophils, Recurrent cutaneous abscess formation, Thrombocytopenia, Abno... |
ORPHA:229717 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anemia, Anuria, Hyperphosphatemia, Acute tubulointerstitial nephrit... |
ORPHA:340 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst, Splenomegaly |
OMIM:233690 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... |
OMIM:223900 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Abnor... |
ORPHA:381 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Granuloma, Granulomatosis, Rectal abscess, Impaired oxidative burst, Splenomegaly |
OMIM:306400 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Hemolytic-uremic syndrome, Perianal abscess, Recurrent urinary tract infe... |
ORPHA:2968 |
Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Elevated circulating C-react... |
ORPHA:1451 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Renal insufficiency, Increased circulating antibody level, Hypokalemia, Reticulocytos... |
ORPHA:99826 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
Mastocytosis |
|
Mastocytosis, Hypercalcemia, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
Yellow Fever |
|
Anuria, Renal insufficiency, Acute kidney injury, Hyperbilirubinemia, Neutrophilia, Elevated circ... |
ORPHA:99829 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency |
OMIM:617478 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level |
ORPHA:2268 |
1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei |
ORPHA:250999 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:620075 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:614800 |
Whim Syndrome |
|
Neutropenia, Lymphopenia, Abnormality of neutrophil morphology, Decreased circulating antibody level |
ORPHA:51636 |
Waldenström Macroglobulinemia |
|
Leukemia, Normocytic anemia, Abnormality of neutrophils, Renal insufficiency, Monoclonal immunogl... |
ORPHA:33226 |
Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
Chronic Granulomatous Disease |
|
Liver abscess, Splenomegaly, Abnormality of neutrophils |
ORPHA:379 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Patent ductus arteriosus, Hypercholesterolemia, Stage 5 chronic kidney disease, Hyperbilirubinemi... |
OMIM:619534 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating antibody level... |
ORPHA:3132 |
Stevens-Johnson Syndrome |
|
Anemia, Dysuria, Abnormality of neutrophils, Thrombocytopenia, Renal insufficiency, Abnormality o... |
ORPHA:36426 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:618019 |
Pmm2-Cdg |
|
Nephrotic syndrome, Impaired neutrophil chemotaxis, Abnormal renal tubule morphology, Multiple re... |
ORPHA:79318 |