| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Decreased skull ossification,... |
ORPHA:3319 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
| Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly |
OMIM:619175 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
| Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... |
OMIM:232700 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hearing impairment, Hypopigmentat... |
ORPHA:42665 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
OMIM:615238 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic seizures, Hypoca... |
OMIM:618883 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, White f... |
ORPHA:2779 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia, Osteopenia |
OMIM:619073 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... |
OMIM:203330 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Metacarpal periosteal thickening, ... |
OMIM:617994 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
| Pseudohypoparathyroidism Type 2 |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalcemic seizures, Pseud... |
ORPHA:94090 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemia, Sensorineural hearing impairment, Increased bone min... |
OMIM:241520 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Bone cyst, Anemia |
ORPHA:2668 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia |
OMIM:613877 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... |
OMIM:605814 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Elevated circulating parathyroid hormone level, Hypoc... |
ORPHA:94089 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia |
ORPHA:436182 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... |
OMIM:603233 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... |
OMIM:603471 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Sensorineural hearing impairment, Premature graying of hair |
OMIM:600193 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
| Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Sensorineural hearing impairment, Spotty hyperpi... |
OMIM:227010 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... |
ORPHA:2239 |
| Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia |
OMIM:616435 |
| Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
| Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral... |
ORPHA:36913 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Osteoporosis, Hypogonadism, ... |
OMIM:612462 |
| Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... |
OMIM:607616 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Osteomalacia |
ORPHA:89937 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating... |
OMIM:300635 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... |
OMIM:610717 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Congenital hypoparathyroidism, Hypocalcemic seizures, Patchy osteosclerosis, Posteriorly rotated ... |
OMIM:241410 |
| Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Calciphylaxis |
|
Secondary hyperparathyroidism, Hyperphosphatemia, Ectopic ossification |
ORPHA:280062 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Osteoporosis, Hypo... |
ORPHA:398063 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Limited pronation/supination of forearm, Neutropenia, Anemia, Congenital thrombocytopenia, Thromb... |
OMIM:616738 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume, Radioulnar synostosis |
ORPHA:2760 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
| Adamantinoma |
|
Hypercalcemia, Pathologic fracture |
ORPHA:55881 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse eyelashes, Hyperpigmentation of the skin, Palmoplantar keratoderma, Sparse pubic hair, Hea... |
ORPHA:189 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Osteoporosis, Hypogonadism, ... |
OMIM:103580 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Congenital hypoparathyroidism, Hypocalcemic tetany, H... |
ORPHA:93324 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis, Delayed skeletal maturation |
OMIM:613606 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Hyperparathyroidism 4 |
|
Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma, Osteopenia |
OMIM:617343 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... |
OMIM:612526 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... |
OMIM:619271 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypocalcemia, Incre... |
OMIM:601198 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Sensorineural hearing impairment, Incr... |
OMIM:239000 |
| Familial Isolated Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hypophosphatemia, Osteopenia, Prim... |
ORPHA:99879 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... |
ORPHA:209902 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
| Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
| Hypophosphatasia |
|
Hypercalcemia, Recurrent fractures, Craniosynostosis, Anemia |
ORPHA:436 |
| Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Protoporphyria, Erythropoietic, 1 |
|
Eczema, Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Anemia, Thrombocytopenia |
ORPHA:2123 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Hypophosphatemia, Hypophosphatemic rickets, Rickets |
OMIM:193100 |
| Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
| Hyperostosis Corticalis Generalisata |
|
Sensorineural hearing impairment, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cort... |
ORPHA:3416 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly |
OMIM:615085 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Pancytopeni... |
OMIM:159550 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Hypophosphatemia, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecular... |
ORPHA:93160 |
| Hypophosphatemic Bone Disease |
|
Osteomalacia, Hypophosphatemia, Rickets |
OMIM:146350 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration |
ORPHA:209919 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypercalcemia, Decreased circulat... |
ORPHA:94086 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
| Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertr... |
OMIM:603552 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, S... |
OMIM:613265 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur... |
OMIM:611490 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... |
OMIM:618849 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
| Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia |
OMIM:615883 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:607624 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Joint contracture of the 5th finger... |
OMIM:194350 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Thin bony cortex, Hypocalcemic seizures, Rickets,... |
ORPHA:289157 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Osteopenia |
OMIM:612287 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Severe sensorine... |
OMIM:601706 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... |
OMIM:610017 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Thickened cortex of long bones, Increased bone mineral density, Hypocalcemia,... |
OMIM:127000 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia, Bone pain |
OMIM:610539 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Sensorineura... |
ORPHA:2790 |
| Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Orotic Aciduria |
|
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... |
OMIM:258900 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Rickets, Hypophosphatemia, Hyperpa... |
OMIM:612089 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Hypocalcemia, Pathologic fracture |
OMIM:179800 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased liver funct... |
OMIM:301045 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Abnormal natural killer cell physiology, Splenomegaly, Incr... |
OMIM:613101 |
| Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Arthritis, Osteomyelitis, Hearing impairment, Mandibular osteomyeliti... |
ORPHA:53 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Calcinosis, Hyperphosphatemia, Subperiosteal bone formation |
OMIM:211900 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Patchy osteosclerosis, Low-set, posteriorly ro... |
ORPHA:2323 |
| Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... |
ORPHA:139491 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
| Rhabdoid Tumor |
|
Hypercalcemia, Anemia, Thrombocytopenia |
ORPHA:69077 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia |
OMIM:231095 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Osteopenia, Rickets |
OMIM:613388 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminemia, Eleva... |
OMIM:617156 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Hearing impairment, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia |
ORPHA:280356 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production |
OMIM:300367 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Osteopenia |
OMIM:612286 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
| Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatic steatosis |
OMIM:615595 |
| Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
| Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hypomagnesemia, Irregular hyperpigmentation, Hypocalcemia, Hyperpho... |
ORPHA:428 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Hearing impairment, White forelock, Heterochromia iridis, Sensorineur... |
ORPHA:895 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia, Polyarticular arthritis |
OMIM:616744 |
| Waardenburg Syndrome, Type 2A |
|
Partial albinism, Congenital sensorineural hearing impairment, Albinism, White eyelashes, Heteroc... |
OMIM:193510 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hypercholesterolemia, Increased hepatic echogenicity, Hepatic fibrosis, Decreased H... |
OMIM:278000 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Blue irides, Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Epiphysea... |
OMIM:101800 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Hypophosphatasia, Infantile |
|
Decreased calvarial ossification, Hypercalcemia, Increased susceptibility to fractures, Craniosyn... |
OMIM:241500 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Reduced bone mineral density, Pathologic fracture, Increased circulating beta-C... |
ORPHA:157215 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating creatine kinase... |
OMIM:615980 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... |
ORPHA:71275 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Neoplasm of the thyroid gland, Hearing impairment, Hyperthyroidism, Abnormal calcium-phos... |
ORPHA:457059 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Sensorineural hear... |
ORPHA:2885 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79444 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism, Low-set, posteriorly rotated ears, Hypocalcemia |
ORPHA:163693 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Congenital hypoparathyroidism, Hyp... |
ORPHA:93325 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:79085 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Throm... |
ORPHA:848 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
| Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79443 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Progressive hyperpigmentation, Hyperme... |
OMIM:145250 |
| Sclerosteosis |
|
Sensorineural hearing impairment, Increased bone mineral density, Craniofacial hyperostosis, Abno... |
ORPHA:3152 |
| African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin concentr... |
OMIM:606069 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Hypophosphatemia, Hypokalemia, Rickets |
OMIM:134600 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Congenital sensorineural hearing impairment, Piebaldism, Albinism, Patchy hypo-... |
OMIM:300700 |
| Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia |
ORPHA:53697 |
| Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:435651 |
| Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Fused cervical vertebrae, Kyphosis, Hyperlordosis, Short neck |
ORPHA:2522 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Recurrent fractures... |
OMIM:600081 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Calvarial osteosclerosis, Hypomagnesemia, Decreased skull ossifica... |
OMIM:244460 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... |
OMIM:613686 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Pathologic fracture, He... |
OMIM:259700 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... |
OMIM:618469 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... |
OMIM:615550 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Avascular necrosis |
ORPHA:141184 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
| Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Hyperphosphatemia, Hearing impairment |
OMIM:614207 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... |
ORPHA:53693 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Recurrent fractures... |
OMIM:300554 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Genu valgum, Hepatosplenomegaly, Mand... |
OMIM:259710 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Acetabular dysplasia, Erythroid hypoplasia |
OMIM:618313 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Calcinosis, Hypophosphatemia, Anemia, Splenomegaly, Recurrent fractures |
OMIM:239200 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Thin bony cortex, Hypocalcemic seizures, Rickets,... |
OMIM:264700 |
| Cranio-Osteoarthropathy |
|
Abnormal cortical bone morphology, Arthritis, Joint stiffness, Osteoarthritis, Mottled pigmentation |
ORPHA:1525 |
| Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Hemolytic anemia, Arthritis, Leukopenia |
OMIM:152700 |
| Albinism-Deafness Syndrome |
|
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Sensorineural hea... |
ORPHA:998 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Anemia, Hypocalcemia |
ORPHA:100025 |
| Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... |
OMIM:178110 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Recurrent fractures... |
OMIM:241530 |
| Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Hypercalcemia, Neoplasm of the thymus, Increased circulating cortisol le... |
ORPHA:97289 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Arthropathy, Flexion contracture |
OMIM:612952 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia |
OMIM:614171 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... |
OMIM:614300 |
| Infantile Myofibromatosis |
|
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis |
ORPHA:2591 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Thin bony cortex, Hypocalcemic seizures, Rickets,... |
OMIM:277440 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Elevated circulating creatine kinase concentration, Pancreatitis, Hyperglycinemi... |
OMIM:619386 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Macrotia, Posteriorly rotated ears, Hypocalcemia, Decreased respo... |
OMIM:606407 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... |
OMIM:618278 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hyperalaninemia, Hepatic steatosis, Elevated circu... |
OMIM:619048 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Kyphoscoliosis, Osteoporosis, Joint laxity |
OMIM:614727 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:616576 |
| Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Fibrous dysplasia of the bones, Rickets, Increased circulating cortisol level,... |
ORPHA:249 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia |
OMIM:618459 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
| Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Abnormal vertebra... |
ORPHA:337 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
| Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... |
OMIM:238600 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Vertebral fusion |
OMIM:221950 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Genu varum, Reduced bone mineral density, Intervertebral space narrowing, Vertebral fusion, Verte... |
ORPHA:93315 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Elevated hepatic tr... |
OMIM:619013 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Episodic hemolytic anemia, Craniosynostosis, Increased blood urea nitrogen, Recurr... |
ORPHA:251004 |
| Thyrocerebrorenal Syndrome |
|
