| Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Hyperintensity of cerebral white matter on MRI, Cognitive impairment |
OMIM:618564 |
| Alzheimer Disease 10 |
|
Dementia, Cerebral cortical atrophy, Memory impairment |
OMIM:609636 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... |
OMIM:615234 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Dementia, Myoclonus, Cognitive impairment |
OMIM:616230 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... |
OMIM:616689 |
| Isolated Focal Cortical Dysplasia |
|
Abnormal cortical gyration, Infantile spasms, Nocturnal seizures, Cognitive impairment, Focal imp... |
ORPHA:65683 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... |
OMIM:616860 |
| Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating... |
OMIM:616050 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbumine... |
OMIM:209950 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive |
OMIM:617718 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Leishmaniasis |
|
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... |
ORPHA:507 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Cognitive impairment, Polymicrogyria, Bilateral tonic-clonic seizure |
OMIM:300388 |
| Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Osteo... |
ORPHA:398063 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... |
OMIM:300908 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... |
OMIM:618849 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Failure to thrive, Anemia, Camptodactyly, Thrombocytopenia |
OMIM:608104 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... |
ORPHA:2169 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... |
ORPHA:86839 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Weight loss, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive... |
ORPHA:2070 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
| Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:158061 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin |
ORPHA:3319 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly |
ORPHA:46532 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... |
OMIM:619271 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets, Progressive sensorineural hearing impai... |
OMIM:600208 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... |
ORPHA:529799 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Ir... |
ORPHA:292 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased total bilirubin, ... |
OMIM:603553 |
| Nephrotic Syndrome, Type 14 |
|
Sensorineural hearing impairment, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Mental dete... |
OMIM:617575 |
| Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... |
OMIM:277410 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Hepatoportal Sclerosis |
|
Leukopenia, Cognitive impairment, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoal... |
ORPHA:64743 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corp... |
OMIM:611590 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
| Diamond-Blackfan Anemia 6 |
|
Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL chole... |
OMIM:246700 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... |
ORPHA:71275 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean cor... |
OMIM:616959 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
| Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dementia, Cognitive impairment, Hypercholesterolemia, Hypoalbuminemia, Mental deterioration |
OMIM:208920 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Ménétrier Disease |
|
Hypoproteinemia, Weight loss, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ... |
ORPHA:90362 |
| Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromic microcytic anemia, Ost... |
ORPHA:231226 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant ... |
OMIM:155100 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... |
ORPHA:300298 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... |
ORPHA:103910 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Neutropenia, Hirsutism, Leukopenia, Low anterior hairline, Low posterior hairline,... |
OMIM:617303 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Sensorineural hearing impairment, Increased circulating ferrit... |
ORPHA:540 |
| Majeed Syndrome |
|
Erythroid hyperplasia, Failure to thrive, Hepatosplenomegaly, Microcytic anemia, Flexion contract... |
OMIM:609628 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral ... |
ORPHA:848 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Hearing impairme... |
OMIM:612562 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Failure to thrive, Hypoalbuminemia |
ORPHA:79320 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Lung abscess, Weight loss, Anemia, Hypoalbuminemia, Liver abscess |
ORPHA:67 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... |
ORPHA:1667 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Sensorineural hearing impairment, Gi... |
ORPHA:182050 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... |
ORPHA:231222 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, High-frequency sensorin... |
OMIM:153640 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Failure to thrive, Weight loss, Osteoporosis, Anemia, Self-mutilation, Hepatosplen... |
OMIM:619487 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
| Slc35A1-Cdg |
|
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis |
ORPHA:238459 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Avian Influenza |
|
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... |
ORPHA:454836 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
| Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hypocholesterolemia, Failure to thrive, Abnormal subcutaneous fat tissue distribu... |
OMIM:212065 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Scarring, Erythroid hyperplasia, Leuk... |
ORPHA:79277 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... |
ORPHA:247585 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Increased mean corpuscular volume, Optic nerve hypoplasia, Abnormal hair p... |
ORPHA:261250 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
| Ravine Syndrome |
|
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Anisocytosis, Irritability, Poikilocytosis, Chronic hemolytic anemia, Reticulo... |
OMIM:618278 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... |
ORPHA:86816 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Failure to thrive, Anemia, Decreased serum iron, Abnormal circulating selen... |
ORPHA:89842 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... |
ORPHA:88618 |
| Alpha-Thalassemia |
|
Cognitive impairment, Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia... |
ORPHA:846 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Pelger-Huet Anomaly |
|
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... |
OMIM:169400 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Absent brainstem auditory responses, Vestibular areflexia, Increas... |
ORPHA:3240 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Al Amyloidosis |
|
Weight loss, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Autonomi... |
ORPHA:85443 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Failure to thrive, Nail dystrophy, Craniosynostosis, Anemia, Alopecia, Atrophic scars, ... |
ORPHA:79396 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Anisopoikilocytosis, Failure to thrive in infancy, Hypochromic m... |
ORPHA:231214 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:36234 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p... |
ORPHA:37042 |
| Acquired Partial Lipodystrophy |
|
Lipoatrophy, Lymphocytosis, Generalized hirsutism, Hearing impairment |
ORPHA:79087 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemia |
ORPHA:367 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
| Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Failure to thrive, Low posterior hairline, ... |
ORPHA:79324 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Facial palsy, Absent brainstem auditory responses, Sensorineural heari... |
OMIM:617519 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Orotic Aciduria |
|
Hypochromia, Failure to thrive, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic... |
OMIM:258900 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol concentration,... |
ORPHA:14 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Hypertrichosis, Leukopenia, Anemia, Long eyelashes, Hernia, Hepatosplenomegaly, Th... |
ORPHA:505248 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Large for gestational age, Albinism, ... |
OMIM:600501 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Hepatocellular Carcinoma |
|
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypokalemia, Polycythemia, Weight loss, Anemia, Hype... |
ORPHA:88673 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Insulin-Resistance Syndrome Type B |
|
Hirsutism, Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid ... |
ORPHA:2298 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Failure to thrive, Progressive neurologic deterioration, Hyperalaninemia, Sensorin... |
OMIM:618329 |
| Castleman Disease |
|
Weight loss, Myelofibrosis, Anemia, Thrombocytopenia, Decreased mean corpuscular volume, Elevated... |
ORPHA:160 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Lathosterolosis |
|
Conductive hearing impairment, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosi... |
OMIM:607330 |
| Leigh Syndrome With Nephrotic Syndrome |
|
EEG with focal spikes, Hypoalbuminemia |
ORPHA:255249 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Refractory anemia, Anemia, Subcutaneous lipoma, Hypoalbuminemia |
ORPHA:79076 |
| Syndromic Diarrhea |
|
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Small for gestat... |
ORPHA:84064 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Thin bony cortex, Small for gestational age, Ri... |
OMIM:613658 |
| Takenouchi-Kosaki Syndrome |
|
Optic atrophy, Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Posteriorly... |
OMIM:616737 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Hirsutism, Joint contracture of the hand, Sensorineural hearing im... |
OMIM:235510 |
| Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Elevated circula... |
ORPHA:99826 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,... |
OMIM:619055 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Orthostatic hypotension, Osteoporosis, Conjugated hyper... |
ORPHA:186 |
| Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Camptodactyly, Failure to thrive, Hypoalbuminemia |
OMIM:617729 |
| Acute Monoblastic/Monocytic Leukemia |
|
Progressive hearing impairment, Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocyto... |
ORPHA:514 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Failure to thrive, Alopecia, Decreased proportion of CD3-positive T cells, Hepatospl... |
ORPHA:169154 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, L... |
ORPHA:90363 |
| Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... |
OMIM:619381 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Hypoalbuminemia, Small for gestational age, Macrotia, Joint contracture of the han... |
OMIM:251300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
| Eisenmenger Syndrome |
|
Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency ... |
ORPHA:97214 |
| Cockayne Syndrome Type 1 |
|
Contractures involving the joints of the feet, Optic atrophy, Scarring, Failure to thrive, Absent... |
ORPHA:90321 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Microcy... |
ORPHA:98791 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Shoulder flexion contracture, Hip contracture, Flexion contr... |
OMIM:193700 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Dementia, Abnormality of somatosensory evoked potentials, Absent brainstem auditor... |
ORPHA:52368 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
| Primary Sclerosing Cholangitis |
|
Weight loss, Osteoporosis, Osteopenia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia |
ORPHA:171 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... |
ORPHA:274 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Sensorineural hearing impairment, Reduced beta/alpha synthesis ratio, Nail dystrophy |
OMIM:609057 |
| Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... |
ORPHA:330015 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Optic atrophy, Highly arched eyebrow, Increased mean platelet volume, Low-set, posteriorly rotate... |
ORPHA:487796 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Irritability, Emotional lability, Prolonged brainstem audito... |
ORPHA:206443 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Abnormal audit... |
OMIM:201050 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Infantile Krabbe Disease |
|
Optic atrophy, Cachexia, Failure to thrive, Progressive neurologic deterioration, Decreased nerve... |
ORPHA:206436 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Myelofibrosis, Splenomegaly, Acute myeloid leukemia, Lymphocytosis... |
ORPHA:86843 |
| Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
| Adult Krabbe Disease |
|
Mental deterioration, Progressive neurologic deterioration, EEG abnormality, Prolonged brainstem ... |
ORPHA:206448 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune... |
ORPHA:911 |
| X-Linked Lymphoproliferative Disease |
|
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... |
ORPHA:2442 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal hair morphology, Dry hair, Small for... |
OMIM:133540 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Neutropenia, Small for gestational age, Failure to t... |
OMIM:260400 |
| Acquired Methemoglobinemia |
|
Anxiety, Methemoglobinemia |
ORPHA:464453 |
| Mogs-Cdg |
|
Optic atrophy, Hirsutism, Alopecia, Absent brainstem auditory responses, Long eyelashes, Sensorin... |
ORPHA:79330 |
| Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Fine hair, Sparse eyelashes, Nail dystrophy, Macrotia, Sparse scalp hair, Hypoalbuminemia, Sparse... |
OMIM:614748 |
| Cockayne Syndrome A |
|
Optic atrophy, Dementia, Abnormal auditory evoked potentials, Dry hair, Abnormality of the pinna,... |
OMIM:216400 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Dementia, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Or... |
ORPHA:99027 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Microtia, Obesity, HbH hemoglo... |
OMIM:141750 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Synophrys |
OMIM:619260 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Failure to thrive, Elevated circulating creatinine concentration, Hyperbilirubinemia, Splenomegal... |
OMIM:619534 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Aganglionic megacolon, Self-injurious behavior, Anemia, Abnormal hemoglobin, Senso... |
ORPHA:847 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Optic nerve hypoplasia, Cognitive impairment, Absent brainstem auditory responses, Decreased nerv... |
ORPHA:101085 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... |
ORPHA:909 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Eosinophilia, Cachexia, Splenomegaly |
ORPHA:75565 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
| Kikuchi-Fujimoto Disease |
|
Neutropenia, Leukopenia, Weight loss, Alopecia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytop... |
ORPHA:50918 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Weight loss, Pure red cell aplasia, Aplastic anemia |
ORPHA:99867 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Posteriorly rotated ears, Sens... |
OMIM:301040 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Neutropenia, Curly eyelashes, Sparse pubic hair, Trichorrhexis nodosa, Curly... |
OMIM:258360 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Failure to thrive, Aggressive beh... |
ORPHA:401973 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, White eyelashes, Sensor... |
OMIM:609136 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen |
ORPHA:79456 |
| Trisomy 10P |
|
Low voltage EEG, Abnormal auditory evoked potentials, Small for gestational age, Flexion contract... |
ORPHA:171929 |
| Pmm2-Cdg |
|
Multiple joint contractures, Failure to thrive, Osteoporosis, Macrotia, Abnormality of the pinna,... |
ORPHA:79318 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss, Eosinophilia, Lymphocytosis |
ORPHA:139402 |
