| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Isolated Osteopoikilosis |
|
Sclerosis of foot bone, Increased bone mineral density, Abnormal long bone morphology, Sclerotic ... |
ORPHA:166119 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
| Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Generalized osteosclerosis, Hemangioma, Abnormal metaphysis morphology, Hyperos... |
ORPHA:1306 |
| Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... |
OMIM:174500 |
| Melorheostosis |
|
Increased bone mineral density, Skeletal muscle atrophy, Hyperostosis, Failure to thrive, Ectopic... |
ORPHA:2485 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Craniofacial osteosclerosis, Osteolysis, Abnormal metaphysis morphology, Anemia, Abnormal sacroil... |
ORPHA:324964 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Clinod... |
ORPHA:71289 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Ane... |
ORPHA:1802 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... |
OMIM:174200 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... |
ORPHA:3246 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short distal phalanx of finger, Hepatic hemangioma, Triangular shaped distal phalanges of the han... |
ORPHA:73230 |
| Camurati-Engelmann Disease, Type 2 |
|
Skeletal muscle atrophy, Knee flexion contracture, Hyperostosis, Osteopenia, Hip contracture |
OMIM:606631 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
| Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
| Camurati-Engelmann Disease |
|
Abnormality of the humerus, Slender build, Abnormal diaphysis morphology, Cachexia, Abnormal morp... |
ORPHA:1328 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Clubbing, Hyperostosis, Periostosis, Hypoalbuminemia |
OMIM:614441 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Small for gestational age, Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phoc... |
ORPHA:294975 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Punctate palmar hyperkeratosis, Vertebral hyperostosis |
OMIM:106400 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type ... |
OMIM:618858 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Hand polydactyly, Abnormal metaphysis morphology, Abnormal cortical bone... |
ORPHA:2710 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Wahab Syndrome |
|
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... |
OMIM:615170 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-p... |
OMIM:606176 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Facial palsy, Diaphyseal thickenin... |
ORPHA:3416 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... |
ORPHA:3152 |
| Carpenter Syndrome |
|
Craniosynostosis, Polydactyly, Umbilical hernia, Obesity, Finger syndactyly, Syndactyly, Polysple... |
ORPHA:65759 |
| Bardet-Biedl Syndrome 5 |
|
Obesity, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... |
OMIM:616329 |
| Oslam Syndrome |
|
Neoplasm, Anemia, Radioulnar synostosis, Radial deviation of finger, Osteosarcoma, Clinodactyly |
OMIM:165660 |
| Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality... |
ORPHA:2141 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity |
OMIM:615988 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Sickle Cell Anemia |
|
Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Chromosome 2Q35 Duplication Syndrome |
|
3-4 finger syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, S... |
OMIM:185900 |
| Shwachman-Diamond Syndrome 1 |
|
Metaphyseal chondrodysplasia, Small for gestational age, Metaphyseal sclerosis, Acute myeloid leu... |
OMIM:260400 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia, Hyperostosis cra... |
OMIM:231095 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Obesity |
OMIM:615991 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Boomerang Dysplasia |
|
Abnormally ossified vertebrae, Abnormality of the humerus, Aplasia/Hypoplasia of the abdominal wa... |
ORPHA:1263 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... |
OMIM:618167 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of toe, Camptodactyly of finger, Abnormal foot bone ossification, Syndactyly, Fibro... |
OMIM:300244 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Postaxial foot polydactyly, Umbilical hernia, Finger syndactyly, Preaxial foot ... |
ORPHA:380 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly |
ORPHA:846 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Polydactyly, Abnormality of neutrophils, Umbilical hernia,... |
OMIM:169400 |
| Proteus-Like Syndrome |
|
Hemangioma, Exostoses, Hyperostosis, Subcutaneous lipoma, Thymus hyperplasia, Splenomegaly, Shagr... |
ORPHA:2969 |
| Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Aplasia/Hypoplas... |
OMIM:200700 |
| Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Impaired glucose tolerance, Anemia, Diabetes mellitus, Glucose i... |
OMIM:606069 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
| Hypophosphatemic Rickets |
|
Rickets, Craniofacial osteosclerosis, Hypophosphatemia, Enthesitis, Hyperostosis, Osteomalacia, O... |
ORPHA:437 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... |
ORPHA:3344 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Anemia |
ORPHA:75563 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Obesity, Truncal obes... |
OMIM:615986 |
| Proteus Syndrome |
|
Calvarial hyperostosis, Hip dislocation, Meningioma, Myofibrillar myopathy, Cachexia, Metatarsus ... |
ORPHA:744 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... |
ORPHA:1892 |
| Proteus Syndrome |
|
Calvarial hyperostosis, Hemangioma, Facial hyperostosis, Mandibular hyperostosis, Lipoma, Thin bo... |
OMIM:176920 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Enamel hypoplasia, Hyperostosis, Subperiosteal bone formation, Calcinosis |
OMIM:211900 |
| Wiskott-Aldrich Syndrome |
|
Hypoplasia of the thymus, Lymphoma, Neoplasm, Hemolytic anemia, Anemia, Hyperostosis, Lymphopenia... |
ORPHA:906 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Reticulocytosis, Anemia, Syndactyly, Anemia of inadequate production, Erythroid hyp... |
OMIM:615631 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly, Obesity |
OMIM:615987 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Failure to thrive, Thrombocytopenia, Splenomega... |
OMIM:615285 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... |
OMIM:605289 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Jawad Syndrome |
|
Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finger, 4-5 toe syndactyly,... |
OMIM:251255 |
| Summitt Syndrome |
|
Craniosynostosis, Syndactyly, Obesity |
OMIM:272350 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, Postaxial polydactyly, 2-3 toe syndactyly, Clinodactyly, Obesity |
OMIM:615984 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia |
ORPHA:318 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly |
OMIM:610140 |
| Beta-Thalassemia |
|
Reduced bone mineral density, Anemia, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, A... |
ORPHA:848 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... |
OMIM:259710 |
| Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:133100 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... |
ORPHA:3202 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume, Radioulnar synostosis, Osteosarcom... |
ORPHA:2760 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Postaxial foot polydactyly, Polydactyly, Large for gestational age, Obesity |
OMIM:617119 |
| Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... |
OMIM:183600 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... |
ORPHA:157801 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Diastasis recti, Neonatal hypoglycemia, Small for gestational age, Polydactyly, Hypoglycemia, Dec... |
ORPHA:231140 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... |
ORPHA:2019 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
| Familial Tumoral Calcinosis |
|
Calcification of muscles, Splenomegaly, Hyperostosis, Neoplasm of the skin |
ORPHA:53715 |
| Dominant Beta-Thalassemia |
|
Hepatocellular carcinoma, Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Diabete... |
ORPHA:231226 |
| Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... |
ORPHA:75508 |
| Ivic Syndrome |
|
Pectoralis major hypoplasia, Leukocytosis, Short thumb, Carpal synostosis, Short 1st metacarpal, ... |
OMIM:147750 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Small for gestational age, Reticulocytosis, Hemolytic anemia, Syndactyl... |
OMIM:224120 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short femur, Short humerus, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Reduced bone mineral density, Burkitt lymphoma, Knee flexion contracture, B-cell lymphoma, Ankle ... |
OMIM:620232 |
| X-Linked Hypophosphatemia |
|
Rickets, Abnormal lower-limb metaphysis morphology, Flared iliac wing, Bowing of the legs, Upper ... |
ORPHA:89936 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Acroosteolysis of distal phalanges (feet), Insulin-... |
ORPHA:2457 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Hip dislocation, Limited pronation/supination of forearm, Aplast... |
OMIM:605432 |
| Beta-Thalassemia Intermedia |
|
Hepatocellular carcinoma, Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extrame... |
ORPHA:231222 |
| Beta-Thalassemia Major |
|
Hepatocellular carcinoma, Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, ... |
ORPHA:231214 |
| Sapho Syndrome |
|
Craniofacial osteosclerosis, Osteolysis, Enthesitis, Steatorrhea, Hyperostosis, Abnormal sacroili... |
ORPHA:793 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Metaphyseal cupping, Skeletal muscle atrophy, Irregular capital femoral epiphysis,... |
OMIM:616716 |
| Fibular Hemimelia |
|
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... |
ORPHA:93323 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Meningioma, Leukemia, Syndactyly, Hernia, Nephroblastoma |
OMIM:602501 |
| Mody |
|
Neonatal hypoglycemia, Overweight, Glycosuria, Diabetic ketoacidosis, Abnormal oral glucose toler... |
ORPHA:552 |
| Multiple Osteochondromas |
|
Femoroacetabular impingement, Rib exostoses, Deformed forearm bones, Abnormal morphology of ulna,... |
ORPHA:321 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:618620 |
| Li-Fraumeni Syndrome |
|
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... |
ORPHA:524 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Osteolysis involving bones of the lower limbs, Syndactyly, Osteolysis involving bo... |
ORPHA:88630 |
| Rothmund-Thomson Syndrome Type 1 |
|
Finger symphalangism, Abnormal trabecular bone morphology, Basal cell carcinoma, Short phalanx of... |
ORPHA:221008 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Calvarial osteosclerosis, Erlenmeyer flask deformity of the femurs, Facial ... |
OMIM:123000 |
| Sturge-Weber Syndrome |
|
Attention deficit hyperactivity disorder, Capillary hemangioma, Visceral angiomatosis, Hyperostos... |
ORPHA:3205 |
| Bardet-Biedl Syndrome 4 |
|
Obesity, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Stenosis of the medullary cavity of the long bones, Myopathy, Metaphyseal striations, Skeletal mu... |
OMIM:112250 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Cellul... |
ORPHA:1310 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Acroosteolysis of distal phalanges (feet), Osteolyt... |
OMIM:608612 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short middle phalanx... |
OMIM:617927 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Hip dysplasia, Anemia, Osteosarcoma, Clinodactyly of the thumb, Obesity, Tapered f... |
OMIM:620072 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased hemoglobin, Failure to thrive, Increased red blood cell mass |
OMIM:263400 |
| Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Flared iliac wing, Radial bowing, Hypo... |
OMIM:607778 |
| Methylcobalamin Deficiency Type Cble |
|
Osteoporosis, Syndactyly, Macrocytic anemia, Failure to thrive, Increased mean corpuscular volume... |
ORPHA:2169 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia, Failure to thrive, Short toe, Talipes equinovarus, Flexion con... |
ORPHA:98791 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Small for gestational age |
OMIM:619278 |
| Van Buchem Disease |
|
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis |
OMIM:239100 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Syndactyly, Omphalocele, Toe syndactyly, Decreased skull ossificati... |
OMIM:601163 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Overweight, Increased circulating renin level, Hyperuricemia, Inc... |
ORPHA:90041 |
| Proximal Symphalangism |
|
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... |
ORPHA:3250 |
| Rothmund-Thomson Syndrome Type 2 |
|
Finger symphalangism, Abnormal trabecular bone morphology, Basal cell carcinoma, Short phalanx of... |
ORPHA:221016 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
| Moebius Syndrome |
|
Clinodactyly, Congenital fibrosis of extraocular muscles, Camptodactyly, Facial diplegia, Syndact... |
OMIM:157900 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Abnormality of the humerus, Cutaneous myxoma, Diabetes mellitus, Increased circulating c... |
ORPHA:249 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Brachydactyly |
OMIM:601438 |
| Czech Dysplasia |
|
Short metatarsal, Short metacarpal, Short femoral neck, Short toe, Narrow iliac wing, Osteochondr... |
OMIM:609162 |
| Juvenile Paget Disease |
|
Hyperuricemia, Osteoporosis, Coarse metaphyseal trabecularization, Cranial hyperostosis, Bowing o... |
ORPHA:2801 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Obesity |
OMIM:615993 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Multiple Synostoses Syndrome 1 |
|
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver... |
OMIM:186500 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Diamond-Blackfan Anemia 6 |
|
Short thumb, Persistence of hemoglobin F, Macrocytic anemia, Failure to thrive, Increased mean co... |
OMIM:612561 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Synd... |
OMIM:113000 |
| Bone Marrow Failure Syndrome 3 |
|
Reduced bone mineral density, Congenital hip dislocation, Hyperactivity, Aplastic anemia, Anemia,... |
OMIM:617052 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius... |
OMIM:142900 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly |
OMIM:605967 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, L... |
OMIM:259720 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Omphalocele,... |
ORPHA:3329 |
| Poland Syndrome |
|
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Syndactyly, Unilatera... |
OMIM:173800 |
| Werner Syndrome |
|
Reduced bone mineral density, Meningioma, Diabetes mellitus, Osteoporosis, Hypertriglyceridemia, ... |
OMIM:277700 |
| Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Abnormality of fibula morphology, Hypophosphatemia, Carcinoma, Osteosar... |
ORPHA:352540 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Short humerus, Inguinal hernia, Osteopenia, Fail... |
OMIM:222765 |
| Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared i... |
OMIM:112350 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Hip dysplasia, Wide distal femoral metaphysis, Short femur, Short femoral neck, Hy... |
OMIM:619598 |
| Diamond-Blackfan Anemia |
|
Short thumb, Pure red cell aplasia, Reticulocytopenia, Abnormality of the upper limb, Elevated re... |
ORPHA:124 |
| Orofaciodigital Syndrome Viii |
|
Hamartoma, Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Calvarial hyperostosis, Steatorrhea, Anemia of inadequate production, Osteopenia, Failure to thri... |
OMIM:612714 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Osteolysis, Abnormal long bone morphology, EMG: myopathic abnormalities, ... |
ORPHA:52430 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Short distal phalanx of finger, Anisopoikilocytosis, Small for gestational age, Proximal placemen... |
OMIM:615789 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Limited elbow extension, Camptodactyly, Hyposegmentation of neutrophil nuclei, Metaphyseal cuppin... |
OMIM:618019 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Metaphyseal widening, Diabetes mellitus, Slender long bon... |
OMIM:617253 |
| Caffey Disease |
|
Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin... |
OMIM:114000 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Shoulder dislo... |
OMIM:171480 |
| Shwachman-Diamond Syndrome |
|
Metaphyseal chondrodysplasia, Diabetes mellitus, Macrocytic anemia, Proximal femoral epiphysiolys... |
ORPHA:811 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Leukopenia, Anemia, Neutropenia, Short metacarpal, Reticulocytopenia, Myelodysplas... |
ORPHA:508542 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Postaxial hand polydactyly, Ap... |
ORPHA:2491 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... |
OMIM:184253 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Clubbing of fingers, Partial duplication of thumb phalanx, Short middle phalanx of t... |
OMIM:617926 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Deviation of finger, Short humerus, Short metacarpal, Deformed humeral heads, Brachydactyly, Genu... |
ORPHA:2831 |
| Acheiropodia |
|
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... |
ORPHA:931 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Polydactyly, Mesoaxial polydactyly, Short fourth metatarsal, Obesity,... |
OMIM:615994 |
| Diamond-Blackfan Anemia 1 |
|
Short thumb, Reticulocytopenia, Macrocytic anemia, Basal cell carcinoma, Hypoplasia of the radius... |
OMIM:105650 |
| Nephronophthisis 15 |
|
Polydactyly, Obesity |
OMIM:614845 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty... |
ORPHA:93322 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Broad thum... |
ORPHA:3320 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short humerus, Hip dislocation, Dislocated radial head, Hypoplastic scapulae, Flared metaphysis, ... |
OMIM:602471 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Thymoma |
|
Neoplasm of the thyroid gland, Neoplasia of the pleura, Neoplasm, Aplastic anemia, Pure red cell ... |
ORPHA:99867 |
| Al-Gazali-Bakalinova Syndrome |
|
Inguinal hernia, Polydactyly, Flattened epiphysis, Tapered finger, Clinodactyly, Epiphyseal dyspl... |
OMIM:607131 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Inguinal hernia, Polydactyly, Ectrodactyly, Syndactyly, Attention defi... |
ORPHA:397590 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Umbilical hernia, Syndactyly, Failure to thrive, Thrombocytopenia, Large for gestational ... |
OMIM:614520 |
| Laurin-Sandrow Syndrome |
|
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas... |
ORPHA:2378 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Abnormality of the wr... |
ORPHA:2878 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... |
OMIM:151623 |
| Poems Syndrome |
|
Hemangioma, Sclerosis of foot bone, Lymphoproliferative disorder, Sclerosis of hand bone, Metaphy... |
ORPHA:2905 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bilateral talipes equinovarus, Wrist flexion contracture, Osteop... |
OMIM:609465 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight,... |
ORPHA:2298 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Flat acetabular roof... |
OMIM:617102 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Lipoma, Cranial hyperostosis, Sandal gap, Nephroblastoma, Splenomegaly |
OMIM:612918 |
| Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Hyperuricemia, Diabetes mellitus, Osteoporosis, Hypercholesterole... |
ORPHA:77296 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:1505 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Ulnar deviation of t... |
OMIM:620076 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Osteopetrosis, Cr... |
OMIM:259730 |
| Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Short humerus, Increased bone mineral density, Hyperuricemia, Lateral femoral bowing, Hydroxyprol... |
OMIM:239000 |
| Roberts Syndrome |
|
Proximal placement of thumb, Abnormality of the upper limb, Hypoplasia of the radius, Bilateral s... |
ORPHA:3103 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hip dysplasia, Postaxial polydactyly, Enamel hypoplasia, Elevated circulating creatine kinase con... |
OMIM:614576 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Hamartoma of ... |
OMIM:258860 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Osteolysis, Fractures of the long bones, Osteosarcoma |
OMIM:167250 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Hamartoma, Finger syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Camptodactyly of toe, Camptodactyly, Broad femoral metaphyses, Osteochondroma, Arachnodactyly |
OMIM:610474 |
| Legius Syndrome |
|
Acute monocytic leukemia, Optic nerve glioma, Polydactyly, Lisch nodules, Vestibular schwannoma, ... |
ORPHA:137605 |
| Hurler Syndrome |
|
Calvarial hyperostosis, Macroglossia, Hepatosplenomegaly, Inguinal hernia, Metaphyseal widening, ... |
OMIM:607014 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,... |
OMIM:135750 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Failure to thrive in infancy, Finger syndactyly, Clinodactyly, Decreased body weight... |
ORPHA:313781 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Obesity, Short long bone, Postaxial polydactyly |
OMIM:615633 |
| Lead Poisoning |
|
Increased LDL cholesterol concentration, Small for gestational age, Anemia, Attention deficit hyp... |
ORPHA:330015 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bilateral talipes equinovarus, Hypoplastic scapulae, Short clavicles, Bowed humerus, Congenital d... |
OMIM:618022 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Polydactyly, Obesity |
OMIM:616629 |
| Limb-Mammary Syndrome |
|
Camptodactyly, Hallux valgus, Syndactyly, Joint contracture of the hand, Split hand, Split foot |
OMIM:603543 |
| Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia... |
ORPHA:2756 |
| Atypical Werner Syndrome |
|
Hip dysplasia, Generalized lipodystrophy, Meningioma, Diabetes mellitus, Fasting hyperinsulinemia... |
ORPHA:79474 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Umbilical hernia, Persistence of hemoglobin F, Overweight |
OMIM:619769 |
| Joubert Syndrome 18 |
|
Camptodactyly, Postaxial polydactyly, Trident pelvis, Talipes equinovarus, Bowing of the long bones |
OMIM:614815 |
| Osteogenesis Imperfecta, Type Xvii |
|
Reduced bone mineral density, Hip dislocation, Thin metacarpal cortices, Thin long bone diaphyses... |
OMIM:616507 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity, Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... |
OMIM:246570 |
| Poland Syndrome |
|
Absent hand, Abnormality of the humerus, Diabetes mellitus, Finger symphalangism, Abnormality of ... |
ORPHA:2911 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive |
ORPHA:423479 |
| 3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Proximal placement of thumb, O... |
ORPHA:435638 |
| Laurence-Moon Syndrome |
|
Abnormality of the hand, Polydactyly, Obesity |
OMIM:245800 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Polydactyly |
OMIM:616910 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Single transverse palmar crease, Preaxial polydactyly, Postaxial polydactyly, Ulnar bowing, Hypop... |
OMIM:617866 |
| Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Osteoporosis, Neoplasm, Osteosarcoma |
OMIM:601811 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Postaxial polydactyl... |
OMIM:613091 |
| Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Short 5th metacarpal, Brachydactyly, Hyperostosis frontalis interna, Polyphagia... |
ORPHA:79443 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Single transverse palmar crease, Elevated 8(9)-cholestenol, Congenital hip dislocation, Absent to... |
OMIM:308050 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cranial hyperostosis, Overweight, Hip dysplasia, Single transverse palmar crease |
ORPHA:457240 |
| Rabson-Mendenhall Syndrome |
|
Macroglossia, Fasting hypoglycemia, Impaired glucose tolerance, Polydactyly, Postprandial hypergl... |
ORPHA:769 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Macroglossia, Anemia, Abnormal hemoglobin, Brachydactyly, Talipes equinovarus, Flexion contractur... |
ORPHA:847 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation of the hand, Po... |
OMIM:614175 |
| Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Increased bone mineral density, Inguinal hernia, Abnormal metaphysis morphology,... |
ORPHA:2658 |
| Suleiman-El-Hattab Syndrome |
|
Inguinal hernia, Polydactyly, Failure to thrive, Single transverse palmar crease, Clinodactyly, B... |
OMIM:618950 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Small for gestational age, Neonatal epiphyseal stippling, Short metatarsa... |
OMIM:101800 |
| Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Obesity, Postaxial polydactyly |
OMIM:600151 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Finger... |
OMIM:612576 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, HbH hemoglobin, Umbilical hernia, Coxa valga, Tapered finger, Radial deviation of f... |
OMIM:301040 |
| Camptobrachydactyly |
|
Hand polydactyly, Syndactyly, Short toe, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Omodysplasia 2 |
|
Short humerus, Glabellar hemangioma, Dislocated radial head, Broad femoral neck, Limited elbow fl... |
OMIM:164745 |
| Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Ulnar bowing, Sho... |
OMIM:211350 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small for gestational age, Short tibia, Failure to thrive, Short femur, Hypocalcem... |
OMIM:607143 |
| Bloom Syndrome |
|
Small for gestational age, Hand polydactyly, Leukemia, Syndactyly, Type II diabetes mellitus, Lym... |
OMIM:210900 |
| Orofaciodigital Syndrome Vi |
|
Failure to thrive, Postaxial polydactyly, Mesoaxial hand polydactyly, Preaxial foot polydactyly, ... |
OMIM:277170 |
| Duane-Radial Ray Syndrome |
|
Short humerus, Small thenar eminence, Absent radius, Short thumb, Preaxial polydactyly, Absent th... |
OMIM:607323 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Short thumb, Preaxial polydactyly, Synos... |
ORPHA:90652 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Obesity |
OMIM:613464 |
| Oculodentodigital Dysplasia |
|
Hip dislocation, Joint contracture of the 5th finger, Enamel hypoplasia, Vertebral hyperostosis, ... |
OMIM:164200 |
| Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Cavernous hemangioma, Umbilical hernia, Syndactyly, Right ventricular hypertroph... |
OMIM:616028 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Polydactyly, Postaxial polydactyly, Flat acetabular roof, Bowing ... |
OMIM:614091 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Acro-Renal-Ocular Syndrome |
|
Short humerus, Radial club hand, Short thumb, Finger syndactyly, Short distal phalanx of the thum... |
ORPHA:959 |
| Tolchin-Le Caignec Syndrome |
|
Diastasis recti, Cardiac rhabdomyoma, Umbilical hernia, Attention deficit hyperactivity disorder,... |
OMIM:618971 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Postaxial polydactyly, Corneal scarring, Neutropenia, Lymphopenia, Failure to thrive, Dys... |
OMIM:618460 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
| Atelosteogenesis, Type I |
|
Short finger, Elbow dislocation, Short humerus, Club-shaped proximal femur, Clubbing, Short metat... |
OMIM:108720 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip dislocation, Short thumb, Shoulder flexion contracture, Bowed humerus, Single transverse palm... |
OMIM:210710 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Pseudoaminopterin Syndrome |
|
Patchy reduction of bone mineral density, Clinodactyly of the 5th toe, Inguinal hernia, Short thu... |
ORPHA:221120 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Short 1st metacarpal, Short palm, Elbow dislocation |
ORPHA:93328 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Left ventricular hypertrophy, Diabetes mellitu... |
OMIM:209900 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Limited elbow extension, Inguinal hernia, Capitate-hamate fusion, Short met... |
OMIM:272460 |
| Alstrom Syndrome |
|
Hyperostosis frontalis interna, Hyperuricemia, Truncal obesity, Abnormality of the hand, Hyperins... |
OMIM:203800 |
| Alpha-Mannosidosis, Infantile Form |
|
Craniosynostosis, Macroglossia, Hepatosplenomegaly, Osteolysis, Bilateral coxa valga, Bilateral t... |
ORPHA:309282 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Inguinal hernia, Hip dislocation, Mesoaxial polydactyly, Toe syndactyly, Broad thum... |
ORPHA:672 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus |
OMIM:613885 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Syndactyly, Failure to thrive, Short long bone, Acet... |
OMIM:615503 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Postaxial hand polydactyly, Polydactyly, Bowing of the long bones |
OMIM:603194 |
| Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Palmar pits, Cardiac fibroma, Polydactyly, Odontogenic keratocysts of the... |
OMIM:109400 |
| Choanal Atresia |
|
Craniosynostosis, Choking episodes, Polydactyly |
ORPHA:137914 |
| Monosomy 9Q22.3 |
|
Palmar pits, Cardiac fibroma, Medulloblastoma, Polydactyly, Hyperactivity, Odontogenic keratocyst... |
ORPHA:77301 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
2-4 toe syndactyly, Osteoma, Rib exostoses, Inguinal hernia, Avascular necrosis of the capital fe... |
OMIM:150230 |
| Hyperostosis Cranialis Interna |
|
Calvarial hyperostosis, Facial palsy, Osteosclerosis of the base of the skull, Hyperostosis crani... |
OMIM:144755 |
| Orofaciodigital Syndrome Type 6 |
|
Hand polydactyly, Preaxial polydactyly, Mesoaxial polydactyly, Syndactyly, Finger clinodactyly, F... |
ORPHA:2754 |
| Cono-Spondylar Dysplasia |
|
Short humerus, Short lower limbs, Failure to thrive, Cone-shaped epiphyses of the phalanges of th... |
ORPHA:420794 |
| Ulnar-Mammary Syndrome |
|
Inguinal hernia, Short 5th finger, Hypoplasia of the radius, Short 5th toe, Aplasia of the 4th me... |
OMIM:181450 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Hip dysplasia, Polydactyly |
ORPHA:531151 |
| Adnp Syndrome |
|
Polyphagia, Inguinal hernia, Polydactyly, Umbilical hernia, Abnormal finger morphology, Abnormal ... |
ORPHA:404448 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Rhabdomyolysis, Short humerus, Polydactyly, Methylmalonic acidemia, Skeletal muscle atrophy, Fail... |
ORPHA:17 |
| Degcags Syndrome |
|
Short thumb, Polydactyly, Abnormal spleen morphology, Toe syndactyly, Preaxial hand polydactyly, ... |
OMIM:619488 |
| Occipital Horn Syndrome |
|
Limited elbow extension, Short humerus, Exostoses, Osteoporosis, Pelvic bone exostoses, Coxa valg... |
OMIM:304150 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
| Cranioectodermal Dysplasia 1 |
|
Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Inguinal he... |
OMIM:218330 |
| Septooptic Dysplasia |
|
Short finger, Polydactyly |
OMIM:182230 |
| Codas Syndrome |
|
Short humerus, Congenital hip dislocation, Proximal placement of thumb, Delayed ossification of c... |
OMIM:600373 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Baller-Gerold Syndrome |
|
Bowing of the long bones, Osteosarcoma, Failure to thrive in infancy, Aplasia/Hypoplasia of the t... |
ORPHA:1225 |
| Melnick-Needles Syndrome |
|
Limited elbow extension, Short distal phalanx of finger, Short humerus, Hip dislocation, Coxa val... |
OMIM:309350 |
| Acromelic Frontonasal Dysostosis |
|
Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, Patellar hypoplasia, Preaxial foot po... |
OMIM:603671 |
| Atelosteogenesis Type Iii |
|
Club-shaped distal femur, Ulnar deviation of the wrist, Abnormality of the humerus, Hip dislocati... |
ORPHA:56305 |
| Rubinstein-Taybi Syndrome 1 |
|
Hepatic hemangioma, Short thumb, Polydactyly, Truncal obesity, Broad thumb, Flared iliac wing, Si... |
OMIM:180849 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Short tibia, Unicoronal synost... |
OMIM:616300 |
| Tarp Syndrome |
|
Hand polydactyly, Extramedullary hematopoiesis, Hypoplasia of proximal radius, Postaxial polydact... |
ORPHA:2886 |
| Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Umbilical hernia, Inguinal hernia, Polydactyly |
ORPHA:93400 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly,... |
OMIM:619471 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Short long bone, Bowed humerus, Flexion contracture, Brachydactyly |
OMIM:619479 |
| Rhombencephalosynapsis |
|
Complete duplication of thumb phalanx, Finger syndactyly, Short phalanx of finger, Polydactyly |
ORPHA:59315 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Hand polydactyly, Absent radius, Proximal placement of thumb |
OMIM:314390 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Syndactyly, Decreased calvarial ossification, ... |
OMIM:619879 |
| Miller-Dieker Lissencephaly Syndrome |
|
Camptodactyly, Inguinal hernia, Polydactyly, Deep palmar crease, Omphalocele, Failure to thrive, ... |
OMIM:247200 |
| Femoral-Facial Syndrome |
|
Short humerus, Short fifth metatarsal, Inguinal hernia, Maternal diabetes, Short fourth metatarsa... |
OMIM:134780 |
| Catel-Manzke Syndrome |
|
Short humerus, Camptodactyly, Inguinal hernia, Umbilical hernia, Short metacarpal, Short femur, H... |
OMIM:616145 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Small for gestational age, Congenital hip dislocation, Short thumb, Osteosarcoma, Osteoporosis, F... |
OMIM:268400 |
| Duodenal Neuroendocrine Tumor |
|
Insulinoma, Paraganglioma, Increased hematocrit, Iron deficiency anemia, Intestinal carcinoid, Zo... |
ORPHA:100076 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polyphagia, Short lower limbs, Hyperactivity, Polydactyly, Obesity, Truncal obesity, Attention de... |
OMIM:615873 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Short humerus, Flexion contracture, Hypoplastic ilia, Small for gestati... |
OMIM:264090 |
| Cranioectodermal Dysplasia 2 |
|
Craniosynostosis, Inguinal hernia, Polydactyly, Left ventricular hypertrophy, Syndactyly, Polyspl... |
OMIM:613610 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity |
OMIM:615989 |
| Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Camptodactyly of finger, Asplenia, Postaxial polydactyly, Accessory s... |
OMIM:249000 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Slender long bone, Osteopenia, Hypoplastic pelvis, Thin bony cortex, Large for gesta... |
OMIM:612731 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Small for gestational age, Hallux valgus, Hyperactivity, Polydactyly, Failure to thrive, Toe synd... |
ORPHA:464306 |
| Carpenter Syndrome 2 |
|
Craniosynostosis, Camptodactyly, Hitchhiker thumb, Preaxial polydactyly, Postaxial polydactyly, D... |
OMIM:614976 |
| Kinsship Syndrome |
|
Hip dislocation, Polydactyly, Dislocated radial head, Coxa valga, Osteopenia, Failure to thrive, ... |
OMIM:619297 |
| Mend Syndrome |
|
Hyperactivity, Polydactyly, Overlapping toe, Failure to thrive, Long fingers, 2-3 toe syndactyly,... |
OMIM:300960 |
| Roberts-Sc Phocomelia Syndrome |
|
Brachydactyly, Knee flexion contracture, Midface capillary hemangioma, Accessory spleen, Aplasia ... |
OMIM:268300 |
| Baller-Gerold Syndrome |
|
Oligodactyly, Bicoronal synostosis, Aplasia of metacarpal bones, Aphalangy of the hands, Carpal s... |
OMIM:218600 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Syndactyly, Enamel hypoplasia, Short 2nd toe, Hamartoma of tongue, Hypothalamic hama... |
OMIM:311200 |
| Retinoblastoma |
|
Lymphoma, Melanoma, Ewing sarcoma, Glioma, Leukemia, Pineoblastoma, Leiomyosarcoma, Cellulitis, O... |
ORPHA:790 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Slender build, Hip dysplasia, Thin long bone diaphyses, Long fingers, Li... |
ORPHA:3455 |
| Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Overweight, Postaxial polydactyly |
OMIM:619562 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short distal phalanx of finger, Inguinal hernia, Short greater sciatic notch, Polysplenia, Broad ... |
OMIM:312870 |
| Omodysplasia 1 |
|
Hemangioma, Limited elbow extension, Anterolateral radial head dislocation, Short humerus, Umbili... |
OMIM:258315 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Attention deficit hyperactivity disorder, Failure to thrive, Facial palsy, Congenita... |
OMIM:301022 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Cranial hyperostosis |
OMIM:601345 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Short clavicles, Splenomegaly, Short long bone, Postaxial hand polydactyly... |
OMIM:617088 |
| Retinitis Pigmentosa 74 |
|
Polydactyly, Obesity |
OMIM:616562 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Small for gestational age, Inguinal hernia, Hallux valgus, Polydactyly, Failure to thrive in infa... |
ORPHA:268261 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hip dysplasia, Polydactyly, Widened distal phalanges, Avascular necrosis of the capital femoral e... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hip dysplasia, Polydactyly, Widened distal phalanges, Avascular necrosis of the capital femoral e... |
ORPHA:353277 |
| Loeys-Dietz Syndrome 2 |
|
Craniosynostosis, Camptodactyly, Inguinal hernia, Postaxial polydactyly, Umbilical hernia, Osteop... |
OMIM:610168 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short femur, Short humerus, Dysphagia, Tapered finger |
OMIM:618367 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Polydactyly, Postaxial polydactyly, Syndactyly, Conjugated hyperbilirubinemia, O... |
OMIM:619534 |
| Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Elbow flexion contracture, Calcaneal epiphyseal stippl... |
OMIM:117650 |
| Retinoblastoma |
|
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Osteosarcoma, Retinoblastoma |
OMIM:180200 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Maternal diabetes, Abnormal forearm bone morphology, Phocomelia, Hypoplasia of the... |
ORPHA:3404 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Finger syndactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Short mi... |
OMIM:607932 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Small thenar eminence, Absent radius, Short thumb, Preaxial polydactyly, R... |
OMIM:149730 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Osteopenia, Abnormal digit morphology, Osteoporosis of vertebrae, Hypoglycemia |
ORPHA:95494 |
| Neurocardiofaciodigital Syndrome |
|
Small for gestational age, Syndactyly, Polydactyly, Failure to thrive |
OMIM:619869 |
| Okamoto Syndrome |
|
Omphalocele, Hip dysplasia, Polydactyly, Splenomegaly |
ORPHA:2729 |
| Alström Syndrome |
|
Short finger, Hyperostosis frontalis interna, Hepatosplenomegaly, Dorsocervical fat pad, Polyphag... |
ORPHA:64 |
