Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Irritability |
OMIM:240800 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Wolfram-Like Syndrome |
|
Glucose intolerance, Progressive cerebellar ataxia, Depression, Anxiety, Diabetes mellitus, Centr... |
ORPHA:411590 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... |
ORPHA:1505 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... |
OMIM:607143 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Progressive cerebellar ataxia, Hepatomegaly |
ORPHA:67046 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Micrognathia, Cryptorchidism |
ORPHA:2849 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Slc35A2-Cdg |
|
Inability to walk, Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the ex... |
ORPHA:356961 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Micrognathia, Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Mater... |
ORPHA:1988 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... |
OMIM:251230 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Anxiety |
OMIM:615962 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Abnormality of the hallux, Ataxia, Exocrine pancreatic insufficiency, Hepatomegaly, Ulnar deviati... |
ORPHA:456312 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Lethargy, Irritability |
ORPHA:2089 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Hypoglycem... |
ORPHA:369 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Emotional lability, Anxiety, Falls, Difficulty walking, Diabetes mellitus |
ORPHA:3198 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Atelosteogenesis Type Iii |
|
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Aceruloplasminemia |
|
Akinesia, Apathy, Ataxia, Abnormal pancreas morphology, Limb ataxia, Gait ataxia, Elevated hepati... |
ORPHA:48818 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... |
OMIM:167800 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Elevated circulating follicle stimulating horm... |
OMIM:609441 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Pancreatic fibrosis, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand ... |
OMIM:263520 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Jaundice, Short rib... |
OMIM:208500 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hypoglycemia, Decreased carnitine level in liver, Impaired gluconeogenesis, Recurre... |
OMIM:212140 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Omodysplasia 1 |
|
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... |
OMIM:258315 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Lethargy, Hepatomegaly, Irritability |
OMIM:229700 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... |
ORPHA:96334 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... |
OMIM:231100 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ataxia, Talipes equinovarus, Hepatomegaly, Dysmetria, Pancreatic fibrosis, Abnormal foot morpholo... |
OMIM:616263 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... |
OMIM:617925 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Acetabular spurs, Postaxial polydactyly, Short ribs, Femoral bowing, Preaxial polydactyly, Pancre... |
OMIM:615503 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Gait imbalance, Overlapping toe, Ataxia, Clinodactyly of the 5th finger, Microretrognathia, Inabi... |
ORPHA:488642 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ... |
OMIM:613027 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Irritability, Hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, Lethargy |
OMIM:212138 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Ataxia, Pancreatitis, Lethargy |
OMIM:248600 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
Feingold Syndrome |
|
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Deviation of the 2nd finger, Brac... |
ORPHA:1305 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... |
OMIM:260370 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Jaundice, Lethargy |
OMIM:616483 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Type II diabetes mellitus, Hypoinsulinemia, Pes cavus, Hypoglycemia, Decreased testicular... |
ORPHA:453533 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Hepatic steatosis, Hepatomegaly, Lethargy |
OMIM:201450 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Metaphyseal irregularity, 2-3 toe syndactyly, Irregular epiphyses, Brachydactyl... |
OMIM:618162 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus |
ORPHA:676 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Polysplenia, Pancreatic cysts, Bowing of the long bones |
OMIM:211890 |
Pancreatic And Cerebellar Agenesis |
|
Overlapping fingers, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Hyperglycemia |
OMIM:609069 |
Distal Monosomy 12Q |
|
Annular pancreas, Overlapping toe, Pituitary adenoma, Clinodactyly of the 5th finger, 2-3 toe syn... |
ORPHA:96149 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Occipital Horn Syndrome |
|
Coxa vara, Large iliac wing, Coxa valga, Jaundice, Aplasia/hypoplasia of the humerus, Abnormality... |
ORPHA:198 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Fibular aplasia |
OMIM:218550 |
Bohring-Opitz Syndrome |
|
Overlapping toe, Short toe, Dislocated radial head, Deep plantar creases, Supernumerary nipple, M... |
OMIM:605039 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... |
ORPHA:1788 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
Acro-Renal-Mandibular Syndrome |
|
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... |
ORPHA:958 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing |
OMIM:113470 |
Fibrochondrogenesis 1 |
|
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... |
OMIM:228520 |
Shwachman-Diamond Syndrome 2 |
|
Metaphyseal irregularity, Exocrine pancreatic insufficiency, Hepatomegaly, Metaphyseal widening, ... |
OMIM:617941 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
Acromelic Frontonasal Dysplasia |
|
Talipes equinovarus, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Hypopituitarism, Patellar h... |
ORPHA:1827 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Hypoglyc... |
OMIM:232220 |
Feingold Syndrome 1 |
|
Annular pancreas, Short toe, 2-3 toe syndactyly, Micrognathia, Accessory spleen, Aplasia/Hypoplas... |
OMIM:164280 |
Kyphomelic Dysplasia |
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Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... |
OMIM:211350 |
Acrorenal-Mandibular Syndrome |
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Absent nipple, Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary ... |
OMIM:200980 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
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Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
Hydrolethalus Syndrome 1 |
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Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
Campomelia, Cumming Type |
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Hepatomegaly, Brachydactyly, Micromelia, Abnormality of the pancreas, Bowing of the long bones, C... |
ORPHA:1318 |
Matthew-Wood Syndrome |
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Annular pancreas, Abnormal spleen morphology, Cryptorchidism, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Trisomy 8P |
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Annular pancreas, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th finger, Crypto... |
ORPHA:264450 |
Jacobsen Syndrome |
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Annular pancreas, Long hallux, Short toe, Toe clinodactyly, Broad hallux phalanx, Pes planus, Tal... |
ORPHA:2308 |
Pearson Marrow-Pancreas Syndrome |
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Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic fibrosis, Type I diabetes mellitus, M... |
OMIM:557000 |
Schneckenbecken Dysplasia |
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Hypoplastic vertebral bodies, Cryptorchidism, Short ribs, Increased fibular diameter, Hypoplastic... |
ORPHA:3144 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Igg4-Related Thyroid Disease |
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Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... |
ORPHA:64744 |
Campomelic Dysplasia |
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Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... |
ORPHA:140 |
Renal Dysplasia-Limb Defects Syndrome |
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Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... |
OMIM:266910 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hepatic fibrosis, Poly... |
OMIM:200995 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... |
OMIM:276820 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Cone-shaped epiphyses of the phalanges of the hand, Ataxia, Hepatomegaly, Hypoplasia of the capit... |
OMIM:266920 |
Meckel Syndrome |
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Micrognathia, Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Postaxial hand ... |
ORPHA:564 |
Rothmund-Thomson Syndrome, Type 2 |
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Annular pancreas, Talipes equinovarus, Cryptorchidism, Small hand, Micrognathia, Congenital hip d... |
OMIM:268400 |
Pearson Syndrome |
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Hypoparathyroidism, Ataxia, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response t... |
ORPHA:699 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Happy demeanor, Metacarpophalangeal joint contracture, Inability to walk, Annular... |
ORPHA:97297 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Absent thumb, Partial duplication of thumb phalanx, Absent radius, Short thumb,... |
OMIM:227646 |
Campomelic Dysplasia |
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Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... |
OMIM:114290 |
Igg4-Related Submandibular Gland Disease |
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Abnormal pancreas morphology, Sialadenitis, Abnormal salivary gland morphology, Abnormality of th... |
ORPHA:449432 |
Senior-Loken Syndrome 8 |
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Pancreatic cysts, Polydactyly, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Diabe... |
ORPHA:93111 |
Meckel Syndrome, Type 7 |
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Hepatosplenomegaly, Cholestasis, Postaxial foot polydactyly, Portal hypertension, Bile duct proli... |
OMIM:267010 |
1P36 Deletion Syndrome |
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Annular pancreas, Clinodactyly of the 5th finger, Self-injurious behavior, Camptodactyly of finge... |
ORPHA:1606 |
Beckwith-Wiedemann Syndrome |
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Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... |
ORPHA:116 |
Cranioectodermal Dysplasia 1 |
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Short distal phalanx of finger, Short toe, Hepatomegaly, Short ribs, Short humerus, Brachydactyly... |
OMIM:218330 |
Visceral Steatosis, Congenital |
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Hypoglycemia, Hepatic steatosis, Jaundice, Lethargy |
OMIM:228100 |
Jacobsen Syndrome |
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Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Missing ribs, Cryp... |
OMIM:147791 |
Orofaciodigital Syndrome Type 4 |
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Aplasia/Hypoplasia of the tibia, Finger syndactyly, Absent testis, Micrognathia, Preaxial hand po... |
ORPHA:2753 |
Charge Syndrome |
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Hypoparathyroidism, Absent tibia, Decreased response to growth hormone stimulation test, Bilatera... |
OMIM:214800 |
17Q12 Microdeletion Syndrome |
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Pancreatic aplasia, Cryptorchidism, Diabetes mellitus |
ORPHA:261265 |
Schinzel-Giedion Syndrome |
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Short distal phalanx of finger, Overlapping toe, Tibial bowing, Annular pancreas, Hepatoblastoma,... |
ORPHA:798 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Absent gallbladder, Aplasia/Hyp... |
ORPHA:556955 |
Fryns Syndrome |
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Short distal phalanx of finger, Microretrognathia, Prominent fingertip pads, Ectopic pancreatic t... |
OMIM:229850 |
Congenital Alveolar Capillary Dysplasia |
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Annular pancreas, Absent gallbladder, Asplenia |
ORPHA:210122 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Cryptorchidism, Hip d... |
OMIM:616975 |
Camptodactyly Syndrome, Guadalajara, Type I |
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Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... |
OMIM:211910 |
Ulbright-Hodes Syndrome |
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Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs,... |
ORPHA:3404 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Annular pancreas, Micrognathia, Asplenia |
OMIM:265380 |
Osteoporosis |
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OMIM:166710 |