| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysp... |
ORPHA:71289 |
| Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb... |
ORPHA:3319 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Neurofibromatosis Type 6 |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... |
OMIM:232700 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
| 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 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| 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, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... |
OMIM:618883 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal metaphysis morphology, Macular hyperpigmented dermopathy, White forelock, Coarse metaphy... |
ORPHA:2779 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Poikilocytosis, ... |
OMIM:615631 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... |
OMIM:203330 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Hyp... |
OMIM:617994 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... |
ORPHA:94090 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Fanconi Anemia, Complementation Group T |
|
Duplication of thumb phalanx, Pancytopenia, Anemia, Thrombocytopenia, Short thumb |
OMIM:616435 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thumb, Micrognathia, Ulnar deviation o... |
OMIM:194350 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia |
OMIM:166990 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
| Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia |
OMIM:223340 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Bone cyst, Hypercalcemia |
ORPHA:2668 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Splenomegaly, Abnormal form of the vertebral bodies, Abnormality... |
ORPHA:1802 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
| Waardenburg Syndrome, Type 2F |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... |
OMIM:619947 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Limited pronation/supination of forearm, Overlapping fingers, Congenital thrombocytopenia, Radiou... |
OMIM:616738 |
| Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Gout, Hypercholesterolemia |
OMIM:610947 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ... |
ORPHA:94089 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... |
OMIM:146200 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... |
OMIM:603233 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... |
OMIM:603471 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Ermine Phenotype |
|
Sensorineural hearing impairment, Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, ... |
OMIM:227010 |
| Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment, White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hyperphosphatemia, Parathyroid agene... |
ORPHA:2239 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... |
OMIM:249700 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Rickets |
ORPHA:89937 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... |
ORPHA:2760 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Hypocalcemic tetany,... |
ORPHA:36913 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany... |
OMIM:612462 |
| Adamantinoma |
|
Hypercalcemia, Pathologic fracture |
ORPHA:55881 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Splenomegaly, ... |
OMIM:300635 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Congenital hypoparathyroidis... |
OMIM:241410 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Splenomegaly, Anisocytosis, Syndactyly, Schistocytosis, Hemolyti... |
OMIM:224120 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany... |
OMIM:103580 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Calciphylaxis |
|
Secondary hyperparathyroidism, Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
| Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
| Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Congenital hypoparathyroidism, Hypocalc... |
ORPHA:93324 |
| Hypophosphatasia |
|
Recurrent fractures, Anemia, Hypercalcemia, Craniosynostosis |
ORPHA:436 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hypocalcemia, Incre... |
OMIM:601198 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets |
OMIM:193100 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... |
ORPHA:209902 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Osteomalacia, Rickets |
OMIM:146350 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circulating parathyroid ... |
ORPHA:99879 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... |
ORPHA:337 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperuricemia, H... |
OMIM:306000 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Avascular necrosis, Osteomyelitis, Leukocytosis, Hypochromic a... |
ORPHA:232 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bone pain, Splenomegaly, Osteopenia, Hypersplenism, Anemia, Thrombocytopenia, Erlenmeyer flask de... |
OMIM:610539 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Eczema, Hepatic failure |
OMIM:177000 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
| Hyperostosis Corticalis Generalisata |
|
Sensorineural hearing impairment, Generalized osteosclerosis, Abnormal cortical bone morphology, ... |
ORPHA:3416 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Ankle clonus, Pancytopenia, Neutropenia, Anemi... |
OMIM:159550 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Osteomalacia, Abnormal bone struc... |
ORPHA:93160 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:94086 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis |
ORPHA:209919 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Forsythe-Wakeling Syndrome |
|
Delayed skeletal maturation, Thrombocytopenia, Osteoporosis |
OMIM:613606 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... |
OMIM:179800 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Leukopenia, Diaphyseal dysplasia, Refractory anemia, Thrombocytop... |
OMIM:231095 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Flexion contracture, Anisocytosis, Micrognathia, Camptodactyly, Rocker bottom foot |
OMIM:604273 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
| Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
| Waardenburg Syndrome, Type 4B |
|
Sensorineural hearing impairment, Blue irides, White eyebrow, White eyelashes, Heterochromia irid... |
OMIM:613265 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Skin rash, Splenomega... |
OMIM:603552 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Th... |
OMIM:619795 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:615883 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... |
OMIM:605274 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Adducted thumb |
OMIM:601815 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Elevated hepatic transaminase,... |
OMIM:214900 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosp... |
ORPHA:289157 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, White forelock, Patchy hypo- and hyperpigmentation, Nume... |
OMIM:601706 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
| Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypocalcemia, Congenital hypoparathyroidism, Patchy osteosclerosis, External ... |
ORPHA:2323 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Hypocalcemia, Increased bone mineral density, Hyperphosphatemia, Transient hy... |
OMIM:127000 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Sensorineural hearing impairment, Recurrent fractures, Increased bone mineral density, Osteopenia... |
OMIM:239000 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
| Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cort... |
ORPHA:2790 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
| Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:69077 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Hypophosphatemia, Rickets |
OMIM:613388 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Sclerotic ... |
OMIM:611490 |
| Albers-Schönberg Osteopetrosis |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr... |
ORPHA:53 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Splenomegaly, Hepatosplenomegaly, Recurren... |
OMIM:613101 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation |
OMIM:211900 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Limited pronatio... |
OMIM:605432 |
| Stuve-Wiedemann Syndrome 2 |
|
Scoliosis, Camptodactyly, Bowing of the long bones, Thrombocytopenia, Short long bone |
OMIM:619751 |
| Waardenburg Syndrome, Type 2A |
|
Sensorineural hearing impairment, Numerous pigmented freckles, Partial albinism, White eyebrow, A... |
OMIM:193510 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Increased C-peptide level |
OMIM:615238 |
| Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused ... |
OMIM:618469 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Hearing impairment, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hyper... |
OMIM:612089 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... |
OMIM:607616 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Radial deviation of finger, Micrognathia, Thrombocytopenia, Clinodactyly |
OMIM:188025 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Pathologi... |
ORPHA:157215 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Steatorrhea, Hepatic ... |
OMIM:278000 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... |
OMIM:613027 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification, Increased susc... |
OMIM:241500 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatic steatosis |
OMIM:615595 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Blue irides, Ca... |
OMIM:101800 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Hypopigmentation of hair, Hearing impairment, Heterochromia iri... |
ORPHA:895 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Joint laxity, Diaphyse... |
OMIM:614727 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Irregular hyperpigmentation, Reduced bone mineral density, Hyperpho... |
ORPHA:428 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Micrognathia, Short nec... |
ORPHA:2522 |
| Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyp... |
ORPHA:457059 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... |
ORPHA:3202 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypop... |
ORPHA:2885 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Triphalangeal thumb, Normochromic anemia, Reticulocytopenia, Elevated red cell... |
OMIM:615550 |
| Hyperlipoproteinemia, Type Id |
|
Colitis, Pancreatitis, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly, Decreased HDL cholestero... |
OMIM:615947 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Increased bone mineral density, Reduced circulating prolactin concentration, Decrea... |
ORPHA:79444 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia, Low-set, posteriorly rotated ears, Hypogonadism |
ORPHA:163693 |
| Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Abnormal circulating follicle-stimulating hormone con... |
ORPHA:93325 |
| Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Missing ribs, Block vertebrae... |
OMIM:613686 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Hypophosphatemia, T... |
OMIM:600081 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... |
OMIM:259710 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Osteomalacia, Rickets, Hypokalemia |
OMIM:134600 |
| Tibial Hemimelia |
|
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Sclerosteosis |
|
Sensorineural hearing impairment, Abnormal cortical bone morphology, Increased bone mineral densi... |
ORPHA:3152 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Thrombocytopenia, Leukopenia, Rhizomelia |
OMIM:618116 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... |
OMIM:145250 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia, Polyarticular arthritis |
OMIM:616744 |
| Pseudohypoparathyroidism Type 1A |
|
Sensorineural hearing impairment, Hypocalcemia, Increased bone mineral density, Reduced circulati... |
ORPHA:79443 |
| African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Hepatic st... |
OMIM:606069 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Albinism-Deafness Syndrome |
|
Congenital sensorineural hearing impairment, Patchy hypo- and hyperpigmentation, Partial albinism... |
OMIM:300700 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Calvarial osteosclerosis, Decreased ... |
OMIM:244460 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:435651 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Tracheomalacia, Persistence of hemoglobin F, Micrognathia, Mac... |
OMIM:612561 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hearing impairment, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pat... |
OMIM:259700 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion, Short long bone, Sacral dimple |
OMIM:618845 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
| Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures, Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Anemia, Throm... |
ORPHA:848 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Micrognathia, Vertebral fusion |
OMIM:221950 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hearing impairment, Hyperphosphatemia |
OMIM:614207 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... |
ORPHA:370010 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal os... |
OMIM:264700 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Blount Disease |
|
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly |
OMIM:608600 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
| Hypotrichosis 8 |
|
Sparse scalp hair, Fair hair, Woolly hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
| Dysspondyloenchondromatosis |
|
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
| Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Leukocytosis, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
| Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of... |
ORPHA:2307 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... |
OMIM:619743 |
