| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Short neck, Scoliosis, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobi... |
ORPHA:3319 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... |
ORPHA:42665 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| 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 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... |
OMIM:618883 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
OMIM:614480 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia, Osteopenia |
OMIM:619073 |
| Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Pseudohypoparathyroidism, Hypo... |
OMIM:203330 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Parathyroid hyperp... |
OMIM:617994 |
| Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
| Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Ectopic ossification, Elevated circulating parathyroid hormone level, Hypocalc... |
ORPHA:79445 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... |
OMIM:187800 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia, Bone cyst |
ORPHA:2668 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... |
OMIM:241520 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Sensorineural hearing impairment, Premature gray... |
OMIM:619947 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating... |
OMIM:146200 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Pseudohypoparathyroidism, Hypo... |
OMIM:603233 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia |
ORPHA:436182 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Elevated circulating thyroid-stimulating ... |
OMIM:612462 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
| Ermine Phenotype |
|
Sensorineural hearing impairment, Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentat... |
OMIM:227010 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Sensorineural hearing impairment, Premature graying of hair |
OMIM:600193 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentrati... |
OMIM:615703 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
OMIM:610717 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly |
OMIM:608898 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Ballooning hepatoc... |
OMIM:603471 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Hypophosphatemia, Rickets, Iron deficiency anemia, Hypocalcemia |
ORPHA:89937 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypomagnes... |
ORPHA:2239 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperphosphatemia, Increased bone mineral den... |
ORPHA:36913 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Elevated circulating parathyroid hormone leve... |
ORPHA:94090 |
| Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... |
ORPHA:98826 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Patchy osteosclerosis, ... |
OMIM:241410 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Elevated circulating parath... |
OMIM:103580 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Congenital thrombocytopenia, Radioulnar synostosis, Limited pronation/supination of forea... |
OMIM:616738 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Inflammation of ... |
OMIM:300635 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Cortical sclerosis, Ge... |
ORPHA:210110 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Hidrotic Ectodermal Dysplasia |
|
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... |
ORPHA:189 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Radioulnar synostosis, Abnormality of neutrophils |
ORPHA:2760 |
| Hyperparathyroidism 4 |
|
Hypercalcemia, Osteopenia |
OMIM:617343 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
| Hypophosphatasia |
|
Anemia, Craniosynostosis, Hypercalcemia, Recurrent fractures |
ORPHA:436 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... |
ORPHA:75234 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Decreased circul... |
OMIM:601198 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Sickle Cell Anemia |
|
Avascular necrosis, Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F... |
ORPHA:232 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Gout, Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Calvarial osteosclerosis, Cortical thickening of long bone diaphyses, Hypoca... |
ORPHA:93324 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia |
OMIM:193100 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Hypophosphatemic Bone Disease |
|
Rickets, Hypophosphatemia, Osteomalacia |
OMIM:146350 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:94089 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... |
ORPHA:98870 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Elevated circulating alanine aminotransfer... |
OMIM:605814 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
| Hyperostosis Corticalis Generalisata |
|
Sensorineural hearing impairment, Cranial hyperostosis, Abnormal cortical bone morphology, Genera... |
ORPHA:3416 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Ankle clonus, Pancytopenia, Thrombocytopenia, Neutropenia,... |
OMIM:159550 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Hypocal... |
OMIM:600081 |
| Familial Isolated Hyperparathyroidism |
|
Parathyroid adenoma, Hypophosphatemia, Elevated circulating parathyroid hormone level, Generalize... |
ORPHA:99879 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Delayed skeletal maturation, Osteoporosis |
OMIM:613606 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri... |
OMIM:306000 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration,... |
ORPHA:94086 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Hypophosphatemia, Coarse metaphyseal trabecularization, Osteol... |
ORPHA:93160 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hypertriglyceridemia, Cholelithiasis, Eczema |
OMIM:177000 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteoporosis, Hypophosphatemia, Osteopenia, Increased susceptibility to fractures |
OMIM:612287 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi... |
OMIM:179800 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Waardenburg Syndrome, Type 4B |
|
Sensorineural hearing impairment, Premature graying of hair, White eyelashes, White eyebrow, Hypo... |
OMIM:613265 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Osteogenesis Imperfecta, Type Xxii |
|
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Decreased circ... |
OMIM:619795 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Secondary hyperp... |
OMIM:264700 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Sclerotic vertebral... |
OMIM:611490 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Wt Limb-Blood Syndrome |
|
Radioulnar synostosis, Pancytopenia, Joint contracture of the 5th finger, Thrombocytopenia, Leuke... |
OMIM:194350 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Skin rash, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, ... |
OMIM:603552 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Transient hypophosphatemia, Increased bone mineral density, Thickened cortex o... |
OMIM:127000 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, White forelock, Patchy hypo- and hyperpigmentation, Nume... |
OMIM:601706 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Hypophosphatemia, Sparse b... |
ORPHA:289157 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteoporosis, Hypophosphatemia, Osteopenia, Increased susceptibility to fractures |
OMIM:612286 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Patchy osteosclerosis, External ear malformation, Hypoparathyroidism, Low-set,... |
ORPHA:2323 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Sensorineural hearing impairment, Recurrent fractures, Increase... |
OMIM:239000 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Osteopenia, Thrombocytopenia, Splenomegaly, Bone pain |
OMIM:610539 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit... |
ORPHA:53 |
| Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Craniofacial hyperostosis, Abnormal cortical bone morphology, G... |
ORPHA:2790 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Waardenburg Syndrome, Type 2A |
|
Sensorineural hearing impairment, Premature graying of hair, Albinism, Synophrys, White eyelashes... |
OMIM:193510 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent sinusiti... |
OMIM:613101 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis |
OMIM:211900 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Increased bone mineral density, Refractory anemia |
OMIM:231095 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestatic liver diseas... |
OMIM:214900 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Hearing impairment |
OMIM:172850 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia, Hepatomegaly |
OMIM:615238 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Hepatic steatosis,... |
OMIM:301045 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia |
ORPHA:280356 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hepatomegaly, H... |
OMIM:607616 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia, Craniosynostosis, Osteopenia |
OMIM:614732 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemia, ... |
ORPHA:157215 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Parathyroid hyperplasia, Hypophosphatemia, Rickets, Elevated circulating parathyroid hormone leve... |
OMIM:612089 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia |
OMIM:613877 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Flexion contracture, Camptodactyly |
OMIM:604273 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Increased susceptibility to fractures, Anemia, Unossified vertebra... |
OMIM:241500 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... |
ORPHA:139491 |
| Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, White fo... |
ORPHA:895 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... |
ORPHA:71275 |
| Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Recurrent fractures, Neoplasm of the thyr... |
ORPHA:457059 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Autosomal Dominant Hypocalcemia |
|
Irregular hyperpigmentation, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Reduced bone minera... |
ORPHA:428 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Melanocytic ne... |
OMIM:101800 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Hyperbilirubinemia, Jaundice, Conjugated hyperbili... |
ORPHA:3111 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Polyarticular arthritis, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Generalized hypopigmentation |
OMIM:113750 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Calvarial osteosclerosis, Cortical thickening of long bon... |
ORPHA:93325 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... |
OMIM:278000 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Sensorineural hearing impairment, Hypop... |
ORPHA:2885 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone stimulation test, Ec... |
ORPHA:79444 |
| 2P21 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypocalcemia, Hypogonadism |
ORPHA:163693 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
| African Iron Overload |
|
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio... |
ORPHA:139507 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... |
OMIM:145250 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly |
ORPHA:79085 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem... |
OMIM:241530 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... |
OMIM:615947 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone stimulation test, Se... |
ORPHA:79443 |
| Sclerosteosis |
|
Sensorineural hearing impairment, Increased bone mineral density, Craniofacial hyperostosis, Abno... |
ORPHA:3152 |
| Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
| Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Recurrent fractures |
ORPHA:53697 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Albinism-Deafness Syndrome |
|
Patchy hypo- and hyperpigmentation, Piebaldism, Albinism, Congenital sensorineural hearing impair... |
OMIM:300700 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Reduced bone mine... |
ORPHA:848 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephr... |
OMIM:608709 |
| Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
| Hyperparathyroidism, Neonatal Severe |
|
Anemia, Recurrent fractures, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly |
OMIM:239200 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hearing impairment, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Kenny-Caffey Syndrome, Type 1 |
|
Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Congenital hypoparathyroidi... |
OMIM:244460 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Elevated transferrin saturation, Hepatic steatosis, Increased circulating ferritin con... |
OMIM:606069 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Short neck, Abnormal reticulocyte morphology |
ORPHA:2522 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... |
OMIM:615550 |
| Fanconi Renotubular Syndrome 2 |
|
Recurrent fractures, Osteomalacia, Hypophosphatemia, Rickets, Osteopenia |
OMIM:613388 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri... |
OMIM:300554 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Pathologic fracture, Hyp... |
OMIM:259700 |
| Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Acetabular dysplasia, Erythroid hypoplasia |
OMIM:618313 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Pancreatitis |
ORPHA:435651 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia, Hearing impairment |
OMIM:614207 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Infantile Myofibromatosis |
|
Osteolysis, Hypercalcemia, Limitation of joint mobility, Bone cyst |
ORPHA:2591 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage |
OMIM:601709 |
| Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant ... |
OMIM:231200 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:618116 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Osteomalacia, Hypophosphatemia, Rickets, Hypophosphat... |
OMIM:307800 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin pat... |
ORPHA:998 |
| Cranio-Osteoarthropathy |
|
Mottled pigmentation, Arthritis, Abnormal cortical bone morphology, Joint stiffness, Osteoarthritis |
ORPHA:1525 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly |
OMIM:608600 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... |
OMIM:619743 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Secondary hyperp... |
OMIM:277440 |
| Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Osteolysis, Osteosclerosis of the ulna, Hypercalcemia, Scl... |
OMIM:602080 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Thrombocytopenia, Hemolytic anemia, Arthritis |
OMIM:152700 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Camptodactyly, Scoliosis |
OMIM:619751 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Hypokalemia, Hypophosphatemia, Osteomalacia |
OMIM:134600 |
| Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Hyperalaninemia, Hyperprolinemia |
OMIM:615918 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, El... |
OMIM:619386 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Avascular necrosis |
ORPHA:141184 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Enlarged vestibular aqueduct, Congenital posterior o... |
ORPHA:79414 |
| Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Hyperuricemia, Normocytic anemia, Decreased circulating cortis... |
ORPHA:199299 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia, Cra... |
ORPHA:251004 |
| Fibrodysplasia Ossificans Progressiva |
|
Anemia, Ectopic ossification in ligament tissue, Spinal rigidity, Abnormal vertebral morphology, ... |
ORPHA:337 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hyperpituitarism, Osteolysis, Multiple cafe-au-lait spots, Fibrous dysplasia of... |
ORPHA:249 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Hip contracture, Hypophosphatemia, Hypercalcemia, Osteopenia, Pathologi... |
OMIM:156400 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Hypocholeste... |
ORPHA:71 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... |
ORPHA:93315 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Flexion contracture, Arthropathy |
OMIM:612952 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
