| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
| Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
| Isolated Osteopoikilosis |
|
Keloids, Abnormal pelvis bone ossification, Abnormality of femur morphology, Sclerosis of foot bo... |
ORPHA:166119 |
| Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
| Craniodiaphyseal Dysplasia |
|
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis, Diaphyseal dysplasia |
OMIM:218300 |
| Buschke-Ollendorff Syndrome |
|
Cutaneous finger syndactyly, Generalized limb muscle atrophy, Abnormality of epiphysis morphology... |
ORPHA:1306 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
| Melorheostosis |
|
Skeletal muscle atrophy, Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, ... |
ORPHA:2485 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormality of epiphysis morphology, Abnormal sacroiliac joint morphology, Hyperostosis, Weight l... |
ORPHA:324964 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
| Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... |
ORPHA:1802 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... |
ORPHA:71289 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
| Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Dysphagia, Decreas... |
ORPHA:73230 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly |
ORPHA:46532 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Hyperostosis, Epiphyseal streaking, Clinodactyly of the 4th toe, Clinodactyly of the 3rd toe, Den... |
OMIM:604922 |
| Camurati-Engelmann Disease, Type 2 |
|
Skeletal muscle atrophy, Hip contracture, Hyperostosis, Knee flexion contracture, Osteopenia |
OMIM:606631 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia |
OMIM:614441 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Small for gestational age, Atypical scarring of skin, Syndactyly, Upper limb phocome... |
ORPHA:294975 |
| Camurati-Engelmann Disease |
|
Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypoplasia of the radius, Slender build, ... |
ORPHA:1328 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis, Punctate palmar hyperkeratosis |
OMIM:106400 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Bardet-Biedl Syndrome 6 |
|
Obesity, Syndactyly, Polydactyly, Diabetes mellitus |
OMIM:605231 |
| Wahab Syndrome |
|
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... |
OMIM:615170 |
| Oculodentodigital Dysplasia |
|
Short hallux, Toe syndactyly, Madelung deformity, Cranial hyperostosis, Hypoglycemia, Hyperostosi... |
ORPHA:2710 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... |
OMIM:618858 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... |
OMIM:610947 |
| Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Abnormal bon... |
OMIM:300244 |
| Sclerosteosis |
|
Diaphyseal thickening, Facial palsy, Abnormal cortical bone morphology, Finger syndactyly, Curved... |
ORPHA:3152 |
| Hyperostosis Corticalis Generalisata |
|
Diaphyseal thickening, Generalized osteosclerosis, Facial palsy, Abnormal cortical bone morpholog... |
ORPHA:3416 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... |
OMIM:615285 |
| Bardet-Biedl Syndrome 5 |
|
Obesity, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... |
OMIM:606176 |
| Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Obesity, Craniosynostosis, Finger syndactyly, G... |
ORPHA:65759 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Bardet-Biedl Syndrome 11 |
|
Obesity, Polydactyly |
OMIM:615988 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Shwachman-Diamond Syndrome 1 |
|
Proximal femoral metaphyseal irregularity, Irregular ossification at anterior rib ends, Neutropen... |
OMIM:260400 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostosis, Distal symphalangism of han... |
OMIM:185900 |
| Oslam Syndrome |
|
Anemia, Neoplasm, Radial deviation of finger, Osteosarcoma, Clinodactyly, Radioulnar synostosis |
OMIM:165660 |
| Boomerang Dysplasia |
|
Poorly ossified vertebrae, Omphalocele, Abnormality of the ulna, Aplasia/Hypoplasia of the abdomi... |
ORPHA:1263 |
| Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/hypoplasia of the humerus, Omphalocele, Abnormality of femur morphology, Abnormality of t... |
ORPHA:2141 |
| Bardet-Biedl Syndrome 12 |
|
Obesity, Polydactyly |
OMIM:615989 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Diaphyseal dysplasi... |
OMIM:231095 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Bardet-Biedl Syndrome 13 |
|
Obesity, Polydactyly |
OMIM:615990 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
| Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
| Hemochromatosis, Type 4 |
|
Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin saturation, Increas... |
OMIM:606069 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Broad thumb, Congenital diaphragmatic hernia, Craniosynosto... |
ORPHA:380 |
| Pelger-Huet Anomaly |
|
Upper limb undergrowth, Short 3rd metacarpal, Neutropenia, Short 5th metacarpal, Polydactyly, Fai... |
OMIM:169400 |
| Proteus Syndrome |
|
Hallux valgus, Ovarian neoplasm, Thymus hyperplasia, Sirenomelia, Meningioma, Neoplasm of the thy... |
ORPHA:744 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Thin bony cortex, Hemangioma, Lymphangioma, Splenomegaly, Lipoma, Calvar... |
OMIM:176920 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Polydipsia, Polyphagia, Hyperglycemia, Postaxial polydactyly, Truncal obesity, Synda... |
OMIM:615986 |
| Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocy... |
OMIM:615631 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
| Proteus-Like Syndrome |
|
Shagreen patch, Thymus hyperplasia, Hemangioma, Hyperostosis, Splenomegaly, Exostoses, Subcutaneo... |
ORPHA:2969 |
| Hypophosphatemic Rickets |
|
Hypercalcemia, Abnormal lower limb bone morphology, Fibrous dysplasia of the bones, Rickets, Fail... |
ORPHA:437 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Metatarsus adductus, Flat capital femoral epiphysis, Talipes equinovarus, Rh... |
OMIM:601560 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Enamel hypoplasia, Subperiosteal bone formation, Hyperphosphatemia |
OMIM:211900 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, M... |
OMIM:224120 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... |
OMIM:605289 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral ... |
ORPHA:848 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis, Syndactyly |
OMIM:272350 |
| Bardet-Biedl Syndrome 10 |
|
Obesity, Polydactyly |
OMIM:615987 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Obesity, Clinodactyly |
OMIM:615984 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur |
OMIM:600121 |
| Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia |
ORPHA:318 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610140 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... |
OMIM:618167 |
| Split-Hand/Foot Malformation 1 |
|
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... |
OMIM:183600 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... |
ORPHA:157801 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Genu valgum, Hepatosplenomegal... |
OMIM:259710 |
| Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... |
OMIM:250215 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Polyphagia, Large for gestational age, Postaxial foot polydactyly, Obesity |
OMIM:617119 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromic microcytic anemia, Hep... |
ORPHA:231226 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c |
OMIM:610582 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Polydactyly, Small for gestational age, Upper limb asymmetry, Neonatal hypoglycemia... |
ORPHA:231140 |
| Angioosteohypotrophic Syndrome |
|
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Thin bony cortex,... |
ORPHA:75508 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Anisopoikilocytosis, Failure to thrive in infancy, Hypochromic m... |
ORPHA:231214 |
| Familial Tumoral Calcinosis |
|
Neoplasm of the skin, Hyperostosis, Calcification of muscles, Splenomegaly |
ORPHA:53715 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Short clavicles, Loss of subcutaneous adipose tissue in lim... |
OMIM:608612 |
| Overlap Myositis |
|
Dysphagia, Perifascicular muscle fiber atrophy, Leukopenia, Elevated circulating creatine kinase ... |
ORPHA:206572 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphys... |
OMIM:616716 |
| X-Linked Hypophosphatemia |
|
Genu varum, Rickets, Hypophosphatemia, Reduced bone mineral density, Odontodysplasia, Bowing of t... |
ORPHA:89936 |
| Multiple Osteochondromas |
|
Short lower limbs, Abnormal lower limb bone morphology, Femoroacetabular impingement, Chondrosarc... |
ORPHA:321 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... |
OMIM:618849 |
| Ivic Syndrome |
|
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Short 1st metacarpal, Shor... |
OMIM:147750 |
| Sapho Syndrome |
|
Abnormal sacroiliac joint morphology, Hyperostosis, Steatorrhea, Enthesitis, Craniofacial osteosc... |
ORPHA:793 |
| Mandibuloacral Dysplasia |
|
Short clavicles, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resist... |
ORPHA:2457 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... |
ORPHA:231222 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Limited pronation/supination of forearm, Radial bowing, Ulnar bowing, Amegakaryocytic thrombocyto... |
OMIM:605432 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Meningioma, Polydactyly, Leukemia, Hernia, Syndactyly, Nephroblastoma |
OMIM:602501 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Osteosarcoma, Clinodactyly of the 5th finger, Abnormality of n... |
ORPHA:2760 |
| Li-Fraumeni Syndrome |
|
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... |
ORPHA:524 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... |
OMIM:601438 |
| Brachydactyly Type B |
|
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... |
ORPHA:93383 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Failure to thrive, Rhizomelia, Osteopenia, Stippled calcification proximal humeral epiphyses, Fle... |
OMIM:222765 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Myopathy, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Bowing of the legs, Patchy oste... |
OMIM:112250 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Omphalocele, Congenital diaphragmatic hernia, Decreased skull ossification, Synda... |
OMIM:601163 |
| Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... |
OMIM:617927 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Proximal Symphalangism |
|
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... |
ORPHA:3250 |
| Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Talipes equinovarus, Failure to thrive, Microcytic anemia, Flexion contracture, Short toe, HbH he... |
ORPHA:98791 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:2633 |
| Bardet-Biedl Syndrome 4 |
|
Obesity, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Postaxial polydactyly, Failure to thrive, Hypothalamic hamartoma, Radial deviatio... |
OMIM:277170 |
| Hyperostosis Frontalis Interna |
|
Hyperostosis frontalis interna, Diabetes mellitus, Obesity |
OMIM:144800 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... |
OMIM:619598 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... |
OMIM:618620 |
| Caffey Disease |
|
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... |
OMIM:114000 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Gaisböck Syndrome |
|
Hyperproteinemia, Obesity, Increased red blood cell count, Increased circulating renin level, Hyp... |
ORPHA:90041 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... |
ORPHA:2169 |
| Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Genu varum, Neutropenia, Leukemia, Basal cell carcinoma, Abnormal dental en... |
ORPHA:221008 |
| Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Genu varum, Neutropenia, Leukemia, Basal cell carcinoma, Abnormal dental en... |
ORPHA:221016 |
| Czech Dysplasia |
|
Osteochondroma, Flat capital femoral epiphysis, Short metatarsal, Narrow iliac wing, Coxa vara, S... |
OMIM:609162 |
| Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Thyroid carcinoma, Rickets, Fibrous dysplasia of the bones, Increased ci... |
ORPHA:249 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Joint contracture of the hand, Aplas... |
OMIM:113000 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Moebius Syndrome |
|
Dysphagia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Facial diplegia, Congenit... |
OMIM:157900 |
| Sturge-Weber Syndrome |
|
Visceral angiomatosis, Dysphagia, Capillary hemangioma, Hyperostosis |
ORPHA:3205 |
| Caffey Disease |
|
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Cortical... |
ORPHA:1310 |
| Poland Syndrome |
|
Unilateral hypoplasia of pectoralis major muscle, Unilateral absence of pectoralis major muscle, ... |
OMIM:173800 |
| Juvenile Paget Disease |
|
Bowing of the long bones, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabecularization, Cran... |
ORPHA:2801 |
| Holt-Oram Syndrome |
|
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... |
OMIM:142900 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Talipes equinovarus, Small for gestational age, Anemia, Proximal placement o... |
OMIM:615789 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Failure to thrive, Per... |
OMIM:612561 |
| Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Tibial bowing, Abnormality of femur morphology, Fibrous dysplasi... |
ORPHA:352540 |
| Blackfan-Diamond Anemia |
|
Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Osteosarcoma, Reticu... |
ORPHA:124 |
| Hamamy Syndrome |
|
Dysphagia, Tapered finger, Long fingers, Craniosynostosis, Hypochromic anemia, Osteopenia, Down-s... |
OMIM:611174 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Failure to thrive, Anemia, Splenomegaly, Osteopenia, Steatorrhea, Calvarial hyperostosis, Anemia ... |
OMIM:612714 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Genu valgum, Deviation of finger, Coxa vara, Short metacarpal, Short humerus, Deforme... |
ORPHA:2831 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Short humerus, Split hand, Abnormality of the wrist, Postaxial hand pol... |
ORPHA:2491 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Small for gestational age |
OMIM:619278 |
| Orofaciodigital Syndrome Viii |
|
Hamartoma, Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Myelodysplasia, Leukopenia, Panniculitis, Anemia, Rhizomelic arm ... |
ORPHA:508542 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Abnormality of long b... |
ORPHA:52430 |
| Bardet-Biedl Syndrome 19 |
|
Obesity, Polydactyly |
OMIM:615996 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndac... |
ORPHA:3329 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Shwachman-Diamond Syndrome |
|
Neutropenia, Leukemia, Metaphyseal irregularity, Steatorrhea, Diabetes mellitus, Pancytopenia, My... |
ORPHA:811 |
| Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... |
OMIM:112350 |
| Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Sandal gap, Splenomegaly, Lipoma, Cranial hyperostosis |
OMIM:612918 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... |
OMIM:617102 |
| Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
| Thymoma |
|
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Neoplasia of the pleura... |
ORPHA:99867 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia |
OMIM:612528 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Polydipsia, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... |
ORPHA:2878 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral synostosis, Dislocated radi... |
OMIM:602471 |
| Omodysplasia 2 |
|
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... |
OMIM:164745 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Partial duplication of thumb phalanx, Central Y-shaped metacarpal, Clubbing of finge... |
OMIM:617926 |
| Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... |
ORPHA:2378 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... |
ORPHA:3320 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Hypoplasia of prox... |
OMIM:184253 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
| Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypotriglyce... |
ORPHA:2298 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Reduced bone mineral density, Syndactyly, Abnormal pelvis bone morphol... |
ORPHA:1505 |
| Poems Syndrome |
|
Thrombocytosis, Sclerosis of foot bone, Lymphoproliferative disorder, Polycythemia, Hemangioma, W... |
ORPHA:2905 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Failure to thrive, Anemia, Large for gestational age, Syndactyly, Thrombocytopenia, ... |
OMIM:614520 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
| Seckel Syndrome 10 |
|
Cone-shaped epiphysis, Insulin resistance, Metaphyseal widening, Glucose intolerance, Impaired gl... |
OMIM:617253 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Craniosynostosis, Syndactyly, Coronal craniosynostosis, Sagitt... |
OMIM:614188 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Mesomelic... |
ORPHA:2756 |
| Joubert Syndrome 18 |
|
Polydactyly, Camptodactyly |
OMIM:614815 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Talipes equinovarus, Macroglos... |
OMIM:141750 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Nephronophthisis 15 |
|
Obesity, Polydactyly |
OMIM:614845 |
| Roberts Syndrome |
|
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... |
ORPHA:3103 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma, Joint contracture of the hand, Arachnodactyly, Broad femoral metaphyses, Camptoda... |
OMIM:610474 |
| Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperostosis frontalis interna, Diabetes melli... |
ORPHA:77296 |
| Al-Gazali Syndrome |
|
Failure to thrive, Broad distal phalanx of finger, Osteopenia, Wrist flexion contracture, Proxima... |
OMIM:609465 |
| Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, Long fingers, Overlapping fingers, Overlapping toe |
OMIM:300960 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia, Polydactyly, Small for gestational age, Short 5th finger, Syndactyly, Clinodactyly ... |
ORPHA:397590 |
| Acromelic Frontonasal Dysostosis |
|
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly, Lipoma |
OMIM:603671 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Elevated circulating creatine kinase concentration, Failure to thrive, Spl... |
OMIM:614576 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Preaxial polydactyly, Hamartoma, Finger syndactyly |
ORPHA:64754 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:222800 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteosarcoma, Osteolysis |
OMIM:167250 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... |
OMIM:135750 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... |
OMIM:259730 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Enamel hypoplasia, Pr... |
OMIM:129540 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Talipes equinovarus, Tapered f... |
OMIM:301040 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Split hand, Syndactyly, Camptodactyly, Split foot |
OMIM:603543 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... |
OMIM:246570 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomelia, Hypoplasia of the ... |
OMIM:607143 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Postaxial polydactyly, Short finger, Foot polydactyly, Brach... |
OMIM:258860 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar... |
OMIM:617866 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... |
OMIM:274000 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndactyly, Short metac... |
OMIM:605282 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Short long bone, Brachydactyly, Postaxial polydactyly |
OMIM:615633 |
| Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Polydactyly, Talipes equinovarus |
OMIM:613885 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Biemond Syndrome Type 2 |
|
Obesity, Preaxial polydactyly |
ORPHA:141333 |
| 20P13 Microdeletion Syndrome |
|
Failure to thrive in infancy, Polydactyly, Finger syndactyly, Decreased body weight, Clinodactyly... |
ORPHA:313781 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Talipes equinovarus, Macroglossia, Anemia, Abnormal hemoglobin, Flexion contracture, Clinodactyly... |
ORPHA:847 |
| Prader-Willi Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Type II diabetes mellitus, Polyphagia, Narro... |
OMIM:176270 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Bardet-Biedl Syndrome 8 |
|
Obesity, Polydactyly |
OMIM:615985 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial polydactyly |
OMIM:617127 |
| Poland Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Finge... |
ORPHA:2911 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tarsal stippling, Elevated 8(9)-cholestenol, Polydactyly, Postaxial polydactyly, Epiphyseal stipp... |
OMIM:302960 |
| Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Flared metaphysis... |
OMIM:211350 |
| Mullegama-Klein-Martinez Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Polydactyly |
OMIM:301022 |
| Premature Aging Syndrome, Okamoto Type |
|
Osteosarcoma, Osteoporosis, Diabetes mellitus, Neoplasm |
OMIM:601811 |
| Atypical Werner Syndrome |
|
Ovarian neoplasm, Neoplasm of the skin, Meningioma, Insulin-resistant diabetes mellitus, Neoplasm... |
ORPHA:79474 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
| Curry-Jones Syndrome |
|
Cutaneous finger syndactyly, Broad thumb, Craniosynostosis, Syndactyly, Duplication of thumb phal... |
OMIM:601707 |
| Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Glucose intolerance, Impaired glucose tolerance, Joint contracture of the hand, Elevate... |
OMIM:208910 |
| Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Polydactyly, Polydipsia, Insulin resistance, Insulin-resistant diabetes mel... |
ORPHA:769 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing of the long bones, Syndactyly, M... |
OMIM:614091 |
| Pseudohypoparathyroidism Type 1A |
|
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Reduced bone mineral density, Incr... |
ORPHA:79443 |
| Bloom Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Leukemia, Lymphoma, Syndactyly, Squamous ce... |
OMIM:210900 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Micromelia, Brachydacty... |
OMIM:617895 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Postaxial polydactyly, Tapered finger, Congenital pseudoarthrosis of the... |
ORPHA:435638 |
| Hurler Syndrome |
|
Short clavicles, Diaphyseal thickening, Hypoplasia of the femoral head, Hernia, Inguinal hernia, ... |
OMIM:607014 |
| Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Postaxial polydactyly |
OMIM:618955 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly |
OMIM:114150 |
| Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cranial hyperostosis, Overweight, Hip dysplasia, Single transverse palmar crease |
ORPHA:457240 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
| Oculodentodigital Dysplasia |
|
Vertebral hyperostosis, Cubitus valgus, Short middle phalanx of the 5th finger, 3-4 toe syndactyl... |
OMIM:164200 |
| Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Triphalangeal thumb, My... |
OMIM:105650 |
| Acro-Renal-Ocular Syndrome |
|
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Aplasi... |
ORPHA:959 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Tarsal synostosis, Omphalocele, Failure to thrive, Bowing of the long bones, Syn... |
ORPHA:90652 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Broad palm, Small for gestational age, Epiphyseal stippling, Short metatarsal, Dislocated radial ... |
OMIM:101800 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Osteopetrosis, Symphalangism affecting the phalanges of the hand, Aplastic clavi... |
ORPHA:2658 |
| Atelosteogenesis, Type I |
|
Fibular aplasia, Tibial bowing, Radial bowing, Distal tapering femur, Talipes equinovarus, Club-s... |
OMIM:108720 |
| Adams-Oliver Syndrome 5 |
|
Cavernous hemangioma, Right ventricular hypertrophy, Inguinal hernia, Splenomegaly, Hypersplenism... |
OMIM:616028 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Absent knee epiphyses, Short humerus, Femoral bowing, Short femur, Elbow flexion... |
OMIM:210710 |
| Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... |
ORPHA:330015 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Hypoplastic scapulae, Congenital diaphragmatic hernia, Absent thumb, Bowed humer... |
OMIM:618022 |
| Mohr Syndrome |
|
Bilateral postaxial polydactyly, Metaphyseal irregularity, Partial duplication of the phalanges o... |
OMIM:252100 |
| Joubert Syndrome 20 |
|
Syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Legius Syndrome |
|
Non-small cell lung carcinoma, Ovarian neoplasm, Polydactyly, Vestibular Schwannoma, Desmoid tumo... |
ORPHA:137605 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short 1st metacarpal, Short palm, Short humerus, Elbow dislocation |
ORPHA:93328 |
| Bardet-Biedl Syndrome 3 |
|
Obesity, Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Failure to thrive, Clinodactyly, Inguinal hernia, Brachydactyly, Single transverse p... |
OMIM:618950 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial polydactyly, Insulin resistance, Truncal obesity, Foot polydactyly, Radial deviation of... |
OMIM:209900 |
| Duane-Radial Ray Syndrome |
|
Aplasia of metacarpal bones, Triphalangeal thumb, Facial palsy, Pectoralis hypoplasia, Hypoplasia... |
OMIM:607323 |
| Joubert Syndrome 15 |
|
Polydactyly |
OMIM:614464 |
| Hydrolethalus Syndrome 2 |
|
Preaxial polydactyly, Postaxial polydactyly |
OMIM:614120 |
| Werner Syndrome |
|
Osteosarcoma, Osteoporosis, Meningioma, Diabetes mellitus |
OMIM:277700 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
| Pseudoaminopterin Syndrome |
|
Asplenia, Postaxial polydactyly, Limited elbow movement, Clinodactyly of the 5th toe, Synostosis ... |
ORPHA:221120 |
| Pallister-Hall Syndrome |
|
Distal arthrogryposis, Polydactyly affecting the 4th finger, Broad toe, Mesoaxial polydactyly, Sh... |
ORPHA:672 |
| Basal Cell Nevus Syndrome |
|
Cardiac rhabdomyoma, Rhabdomyoma, Odontogenic keratocysts of the jaw, Irregular ossification of h... |
OMIM:109400 |
| Senior-Loken Syndrome 9 |
|
Obesity, Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Cranioectodermal Dysplasia 1 |
|
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Osteoporosis, Clinodactyly, Hypo... |
OMIM:218330 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Postaxial polydactyly, Failure to thrive, Preaxial polydactyly, Brachydactyly, Syndactyly, Femora... |
OMIM:615503 |
| Tarp Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Failure to thrive, Hypoplasia of the radius, Short st... |
OMIM:311900 |
| Hyperostosis Cranialis Interna |
|
Calvarial hyperostosis, Hyperostosis cranialis interna, Osteosclerosis of the base of the skull, ... |
OMIM:144755 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hand polydactyly, Short humerus, Proximal placement of thumb, Absent radius |
OMIM:314390 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Tarsal synostosis, Talipes equinovarus, Capitate-hamate fusion, Epiphyseal dysplasia, Coxa vara, ... |
OMIM:272460 |
| Cono-Spondylar Dysplasia |
|
Short lower limbs, Failure to thrive, Short 4th toe, Epiphyseal dysplasia, Short humerus, Brachyd... |
ORPHA:420794 |
| Endocrine-Cerebroosteodysplasia |
|
Polydactyly, Ulnar deviation of the hand or of fingers of the hand, Postaxial polydactyly, Ulnar ... |
OMIM:612651 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Truncal obesity, Hy... |
OMIM:203800 |
| Alpha-Mannosidosis, Infantile Form |
|
Cortical thickening of long bone diaphyses, Myopathy, Bilateral coxa valga, Macroglossia, Hypopla... |
ORPHA:309282 |
| Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Cardiac rhabdomyoma, Arachnodactyly, Diastasis recti, Clinodactyly of the 5th fin... |
OMIM:618971 |
| Degcags Syndrome |
|
Talipes equinovarus, Choking episodes, Hepatosplenomegaly, Syndactyly, Pancytopenia, Oral-pharyng... |
OMIM:619488 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Klippel-Trenaunay-Weber Syndrome |
|
Hand oligodactyly, Hemangioma, Lymphangioma, Macrodactyly, Syndactyly, Hand polydactyly |
OMIM:149000 |
| Codas Syndrome |
|
Omphalocele, Metaphyseal dysplasia, Proximal placement of thumb, Congenital hip dislocation, Genu... |
OMIM:600373 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
| Choanal Atresia |
|
Choking episodes, Craniosynostosis, Polydactyly |
ORPHA:137914 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Hip dysplasia, Polydactyly |
ORPHA:531151 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Prominent deltoid tuberosities, Short clavicles, Rhizomelia, Amelogenesis imperfecta, Short humer... |
OMIM:610319 |
| Melnick-Needles Syndrome |
|
Omphalocele, Tibial bowing, Short clavicles, Hypoplastic scapulae, Talipes equinovarus, Failure t... |
OMIM:309350 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the patella, Failure to thrive in infancy, Hand oligodactyly, Aplasia/Hypop... |
ORPHA:1225 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Ragged-red muscle fibers, Methylmalonic acidemia, Hypoglycemia, Polydactyly, Skeletal muscle atro... |
ORPHA:17 |
| Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
| Orofaciodigital Syndrome Type 6 |
|
Hamartoma of tongue, Failure to thrive, Hypothalamic hamartoma, Mesoaxial polydactyly, Foot polyd... |
ORPHA:2754 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly |
OMIM:607361 |
| Atelosteogenesis Type Iii |
|
Fibular aplasia, Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Absent hum... |
ORPHA:56305 |
| Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Polyphagia, Abnormality of toe, Inguinal hernia, Abnormality of ... |
ORPHA:404448 |
| Joubert Syndrome 17 |
|
Syndactyly, Polydactyly |
OMIM:614615 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Dysphagia, Rocker bottom foot, Postaxial polydactyly, Failure to thrive, Long fingers, Hypomimic ... |
OMIM:617527 |
| Tarp Syndrome |
|
Rocker bottom foot, Talipes equinovarus, Postaxial polydactyly, Failure to thrive, Finger syndact... |
ORPHA:2886 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Meier-Gorlin Syndrome 7 |
|
2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Bowing of the legs, Craniosynostosis, Club... |
OMIM:617063 |
| Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Polydactyly, Rhabdomyosarcoma, Palmar pits, Basal cell carcin... |
ORPHA:77301 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Postaxial polydactyly, Hypercholesterolemia, Postaxial hand polydactyly, Obes... |
OMIM:619471 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Rhizomelia, Craniosynostosis, Hyperbilirubinemia, Clinodactyly, Splenomegaly, Left v... |
OMIM:613610 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Genu valgum, Postaxial polydactyly |
OMIM:619142 |
| Wiedemann-Rautenstrauch Syndrome |
|
Dysphagia, Failure to thrive, Large hands, Long fingers, Absence of subcutaneous fat, Reduced sub... |
OMIM:264090 |
| Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Polydactyly, Umbilical hernia, Inguinal hernia |
ORPHA:93400 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Bowed humerus, Trident pelvis, Short long bone, Short humerus, Brachydactyly |
OMIM:619479 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Polydactyly, Failure to thrive, Joint contracture of the hand, Camptodactyly, Clinod... |
OMIM:247200 |
| Rhombencephalosynapsis |
|
Complete duplication of thumb phalanx, Short phalanx of finger, Polydactyly, Finger syndactyly |
ORPHA:59315 |
| Baller-Gerold Syndrome |
|
Aplasia of metacarpal bones, Lambdoidal craniosynostosis, Carpal bone aplasia, Aplasia/Hypoplasia... |
OMIM:218600 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Maternal diabetes, Talipes equinovarus, Hypoplastic acetabulae, Short fifth metat... |
OMIM:134780 |
| Tukel Syndrome |
|
Carpal bone aplasia, Carpal synostosis, Syndactyly, Postaxial oligodactyly, Congenital fibrosis o... |
OMIM:609428 |
| Khan-Khan-Katsanis Syndrome |
|
Dysphagia, Postaxial polydactyly, Corneal scarring, Failure to thrive, Flexion contracture, Clino... |
OMIM:618460 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Talipes equinovarus, Small for gestational age, Osteoporosis, Small hand, Congenital hip dislocat... |
OMIM:268400 |
| Ulnar-Mammary Syndrome |
|
Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of the ulna, Obesity... |
OMIM:181450 |
| Duodenal Neuroendocrine Tumor |
|
Iron deficiency anemia, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, Increased h... |
ORPHA:100076 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Occipital Horn Syndrome |
|
Bladder carcinoma, Short clavicles, Capitate-hamate fusion, Osteoporosis, Genu valgum, Pelvic bon... |
OMIM:304150 |
| Faciocardiomelic Syndrome |
|
Thin bony cortex, Polydactyly, Large for gestational age, Osteopenia, Slender long bone, Hypoplas... |
OMIM:612731 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Postaxial polydactyly, Rhizomelia, Preaxial polydactyly, Unicoronal synostosis, Flat... |
OMIM:616300 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Hypothalamic hamartoma, Abnormality of toe, Radial deviation of finger, Enamel hypop... |
OMIM:311200 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Hamartoma of tongue, Postaxial polydactyly, Fibular hypoplasia,... |
OMIM:617925 |
| Cranioectodermal Dysplasia 3 |
|
Postaxial polydactyly, Sandal gap, Syndactyly, Sagittal craniosynostosis, Brachydactyly |
OMIM:614099 |
| Omodysplasia 1 |
|
Limited elbow flexion, Hemangioma, Rhizomelia, Fibular hypoplasia, Increased fibular diameter, Hy... |
OMIM:258315 |
| Kinsship Syndrome |
|
Polydactyly, Failure to thrive, Fibular hypoplasia, Dislocated radial head, Osteopenia, Hip dislo... |
OMIM:619297 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Polydactyly, Small for gestational age, Failure to thrive, Arachno... |
ORPHA:464306 |
| Nephronophthisis 13 |
|
Polydactyly |
OMIM:614377 |
| Rubinstein-Taybi Syndrome 1 |
|
Keloids, Radial deviation of thumb terminal phalanx, Leukemia, Capillary hemangioma, Syndactyly, ... |
OMIM:180849 |
| Retinoblastoma |
|
Rhabdomyosarcoma, Leukemia, Leiomyosarcoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Retinoblastoma... |
ORPHA:790 |
| Wiedemann-Rautenstrauch Syndrome |
|
2-3 toe syndactyly, Limb hypertonia, Skeletal muscle hypertrophy, Slender build, Lipoatrophy, Cam... |
ORPHA:3455 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short greater sciatic notch, Talipes equinovarus, Broad toe, Splenomegaly, Diastasis recti, 2-3 f... |
OMIM:312870 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Congenital diaphragmatic hernia, Aplastic clavicle, Preaxial polydactyly, ... |
OMIM:616546 |
| Carpenter Syndrome 2 |
|
Cutaneous finger syndactyly, Talipes equinovarus, Aplasia of the middle phalanx of the hand, Post... |
OMIM:614976 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Cranial hyperostosis |
OMIM:601345 |
| Joubert Syndrome 39 |
|
Overweight, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Dysphagia, Short 5th toe, Failure to thrive in infancy, Polydactyly, Small for ges... |
ORPHA:268261 |
| Loeys-Dietz Syndrome 2 |
|
Talipes equinovarus, Postaxial polydactyly, Osteoporosis, Craniosynostosis, Arachnodactyly, Joint... |
OMIM:610168 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Calcaneal epiphyseal stippling, Short humerus, Clinodactyly of the 5t... |
OMIM:117650 |
| Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas |
|
Osteochondroma |
OMIM:127820 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Polydactyly, Postaxial polydactyly, Failure to thrive, Elevated circulating creatinine concentrat... |
OMIM:619534 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Postaxial polydactyly, Facial hypotonia, Hip dysplasia, Broad hallux, Clinodactyly of the 5th fin... |
ORPHA:457284 |
| Ulbright-Hodes Syndrome |
|
Fibular aplasia, Maternal diabetes, Abnormal forearm bone morphology, Talipes equinovarus, Phocom... |
ORPHA:3404 |
| Retinoblastoma |
|
Leukemia, Lymphoma, Osteosarcoma, Pinealoma, Retinoblastoma, Ewing sarcoma |
OMIM:180200 |
| Microphthalmia, Syndromic 6 |
|
Toe syndactyly, Abnormality of the hand, Short middle phalanx of finger, Single transverse palmar... |
OMIM:607932 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Keloids, Meningioma, Polydactyly, Adducted thumb, Corneal scarring, Obesity, Avascular necrosis o... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Keloids, Meningioma, Polydactyly, Adducted thumb, Corneal scarring, Obesity, Avascular necrosis o... |
ORPHA:353277 |
| Lacrimoauriculodentodigital Syndrome |
|
Radial deviation of the 3rd finger, Absent proximal phalanx of thumb, Hypoplasia of the radius, A... |
OMIM:149730 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypoglycemia, Polydactyly, Osteopenia, Abnormal digit morphology, Osteoporosis of vertebrae |
ORPHA:95494 |
| Vater/Vacterl Association |
|
Triphalangeal thumb, Failure to thrive, Hypoplasia of the radius, Absent radius, Preaxial polydac... |
OMIM:192350 |
| Okamoto Syndrome |
|
Omphalocele, Hip dysplasia, Polydactyly, Splenomegaly |
ORPHA:2729 |
| Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
| Alström Syndrome |
|
Type II diabetes mellitus, Polyphagia, Insulin resistance, Short finger, Hyperlipidemia, Dorsocer... |
ORPHA:64 |
