Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia |
OMIM:205950 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... |
OMIM:206000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia |
OMIM:206100 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... |
OMIM:616689 |
Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... |
OMIM:610629 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Sickle Cell Anemia |
|
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... |
ORPHA:232 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... |
ORPHA:90044 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... |
OMIM:619041 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:261000 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Anemia, Decreased mea... |
OMIM:615234 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... |
ORPHA:3202 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin E Disease |
|
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... |
OMIM:603902 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... |
ORPHA:98870 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612926 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... |
ORPHA:3203 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... |
OMIM:616860 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hyperhomocystinemia, Homocystinuria, Megaloblastic anemia, Methylmalonic acidemia, Increased mean... |
OMIM:277410 |
Adenosine deaminase, elevated, hemolytic anemia due to |
|
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... |
OMIM:102730 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia |
ORPHA:3319 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Anemia, Methemoglobinemia |
OMIM:613977 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... |
OMIM:235400 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Ret... |
OMIM:274150 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612561 |
Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... |
ORPHA:231111 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... |
ORPHA:300298 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Alpha-Thalassemia |
|
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism |
ORPHA:846 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration |
OMIM:607665 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Hyperhomocystinemia, Neutropenia, Increased mean corpuscular volume, Macrocytic ane... |
ORPHA:2169 |
Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular vo... |
OMIM:611590 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... |
ORPHA:766 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine |
ORPHA:54057 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... |
OMIM:616959 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... |
ORPHA:86839 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia |
ORPHA:231401 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration |
ORPHA:275555 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Hyperuricemia |
ORPHA:371 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine |
OMIM:300539 |
Relapsing Fever |
|
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... |
ORPHA:91547 |
Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... |
ORPHA:848 |
Shwachman-Diamond Syndrome |
|
Pancytopenia, Leukopenia, Increased serum bile acid concentration, Normocytic anemia, Leukemia, I... |
ORPHA:811 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Abnormality of iron homeostasis, Increased HbA2 h... |
ORPHA:231222 |
Diamond-Blackfan Anemia 7 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612562 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration |
OMIM:179800 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia |
ORPHA:251004 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration |
ORPHA:230 |
Blackfan-Diamond Anemia |
|
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... |
ORPHA:124 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increa... |
OMIM:232800 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia, Elevated circulating creatinine concentration |
ORPHA:90060 |
Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Hypouricemia, Hyperuricosuria |
ORPHA:94088 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
Elliptocytosis 2 |
|
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... |
ORPHA:231214 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:163596 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Reticulocytosis, Leukopenia, Decreased serum iron, Increased blood urea nitrogen, A... |
ORPHA:447 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... |
OMIM:618278 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration |
OMIM:613095 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... |
ORPHA:90038 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... |
ORPHA:49041 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Anemia |
ORPHA:90321 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatosplenomegaly, Decreased circulating apolipoprotein AI concentration, Elevated circulating c... |
ORPHA:85450 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normochromic anemia, Elevated circulating creatinine concentration, Normocytic anemia |
ORPHA:247691 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteinemia |
ORPHA:29073 |
Castleman Disease |
|
Decreased mean corpuscular volume, Anemia, Elevated circulating C-reactive protein concentration,... |
ORPHA:160 |
Eisenmenger Syndrome |
|
Abnormal B-type natriuretic peptide level, Elevated circulating C-reactive protein concentration,... |
ORPHA:97214 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholestero... |
OMIM:618885 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... |
OMIM:608836 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... |
ORPHA:36234 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... |
ORPHA:411634 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
Marburg Hemorrhagic Fever |
|
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... |
ORPHA:99826 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen, Anemia |
OMIM:233450 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:141750 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Shwachman-Diamond Syndrome 1 |
|
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... |
OMIM:260400 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Yellow Fever |
|
Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated circulating c... |
ORPHA:99829 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Normocytic anemia, Elevated circulating C-reactive... |
ORPHA:91500 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:301040 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Igg4-Related Kidney Disease |
|
Decreased retinol-binding protein level, Eosinophilia, Elevated circulating C-reactive protein co... |
ORPHA:449395 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentration, Abnormal T cell... |
ORPHA:330015 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... |
OMIM:619534 |