Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Hypoglycemia, Leucine-Induced |
|
Irritability, Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia |
OMIM:240800 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypo... |
ORPHA:276580 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Agitation, Pancreatic islet-cell hyperplasia, Fasting hy... |
ORPHA:276608 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycemia, Hyperinsu... |
ORPHA:276575 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Hypoglycemia, Sandal gap, Cryptorchidism, Hypoplasia of t... |
OMIM:607143 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Perlman Syndrome |
|
Hepatomegaly, Micrognathia, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology |
ORPHA:2849 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Inability to walk, Abnormal long bone m... |
ORPHA:356961 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Irritability, Athetosis, Gait disturbance, Loss of ambulation |
OMIM:618241 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Coxa vara, Abnormal fibula morpholo... |
ORPHA:1988 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Irritability, Glycosuria, Postprandial hyperglycemia, Lethargy |
ORPHA:2089 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Ataxia, Congenital hip dislocation, Proximal placement of thumb,... |
ORPHA:456312 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... |
OMIM:620076 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi... |
OMIM:602111 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Attention deficit hyperactivity disorder |
OMIM:620211 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating... |
OMIM:609441 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... |
OMIM:208500 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Irritability, Lethargy, Hypoglycemia |
OMIM:229700 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Aceruloplasminemia |
|
Diabetes mellitus, Ataxia, Akinesia, Abnormal pancreas morphology, Limb ataxia, Gait ataxia, Hepa... |
ORPHA:48818 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Proximal placement of thumb, Ulnar ... |
OMIM:616263 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... |
OMIM:258315 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Hepatoblastoma, Small proximal tibial epiphy... |
ORPHA:96334 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Ataxia, Overlapping toe, Rocker bottom foot, Tapered finger, ... |
ORPHA:488642 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ... |
OMIM:617925 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous ... |
OMIM:206920 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Irritability, Lethargy, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:212138 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Maple Syrup Urine Disease |
|
Lethargy, Ataxia, Pancreatitis, Hypoglycemia |
OMIM:248600 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... |
OMIM:613027 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, D... |
ORPHA:100924 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Abnormality of the spleen, Deviation of the 2nd fing... |
ORPHA:1305 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Jaundice, Hypoglycemia |
OMIM:616483 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Short palm, Large iliac wing, Aplastic clavicle, Hepatitis, Abnormal pu... |
ORPHA:198 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Broad hallux, Maturity-onset diabete... |
ORPHA:96149 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, 2-3 toe syndactyly, Delayed pubic bone ossification, Knee flexion contracture, Irregu... |
OMIM:618162 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypoplastic distal humeri, Rhizo... |
OMIM:164745 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Supernumerary nipple, Micrognathia, Tapered finger, Mesomelic/rhizom... |
OMIM:605039 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Pancreatic fibrosis, Anorexia, Macronodular cirrhosis, Type I diabetes mellitus, Le... |
OMIM:557000 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Hyperactivity, Congenital hip dislocation, Micrognathia, Pancreatic steato... |
OMIM:617052 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Exocrine pancreatic insufficiency, Metaphyseal widening, Hyperechogenic pancreas, M... |
OMIM:617941 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... |
ORPHA:1827 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Fibular aplasia |
OMIM:218550 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Overlapping fingers, Hyperglycemia, Pancreatic hypoplasia, Pancr... |
OMIM:609069 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hepatocellular carcinoma, Pancreat... |
OMIM:232220 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missin... |
OMIM:200980 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas... |
ORPHA:93111 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Campomelia, Cumming Type |
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Hepatomegaly, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormality of the pancreas... |
ORPHA:1318 |
Matthew-Wood Syndrome |
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Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Trisomy 8P |
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Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Cr... |
ORPHA:264450 |
Pearson Syndrome |
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Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g... |
ORPHA:699 |
Fanconi Anemia, Complementation Group D2 |
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Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxial hand polydactyly, Partial dupl... |
OMIM:227646 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hepatic fibrosis, Poly... |
OMIM:200995 |
Jacobsen Syndrome |
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Broad hallux phalanx, Finger syndactyly, Pes planus, Toe syndactyly, Talipes, Missing ribs, Crypt... |
ORPHA:2308 |
Campomelic Dysplasia |
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11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Cholangitis, Micrognathia, Short metatarsal, Hepatic fibrosis, Clinodactyly of the 5th finger, Sh... |
OMIM:266920 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Rothmund-Thomson Syndrome, Type 2 |
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Congenital hip dislocation, Micrognathia, Cryptorchidism, Short thumb, Small hand, Short foot, Ta... |
OMIM:268400 |
Meckel Syndrome |
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Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Talipes, Micrognathia, Asplenia,... |
ORPHA:564 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Camptodactyly of finger, Lower limb asymmetry, Abnormality of the spleen, Crypt... |
ORPHA:1606 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, ... |
OMIM:610199 |
Campomelic Dysplasia |
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Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Feingold Syndrome 1 |
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Accessory spleen, Micrognathia, Asplenia, Short thumb, Short toe, 4-5 toe syndactyly, 2-3 toe syn... |
OMIM:164280 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En... |
ORPHA:449432 |
Meckel Syndrome, Type 7 |
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Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Postax... |
OMIM:267010 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Hypoglycemia, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohyp... |
ORPHA:116 |
Schinzel-Giedion Syndrome |
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Streak ovary, Overlapping toe, Micrognathia, Hypoplastic pubic bone, Tibial bowing, Radioulnar sy... |
ORPHA:798 |
17Q12 Microdeletion Syndrome |
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Cryptorchidism, Diabetes mellitus, Pancreatic aplasia |
ORPHA:261265 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Syndactyly, Micrognathia, Cryptorchidism, Hip dysplasia, Attention deficit hyperactivity disorder... |
OMIM:616975 |
Cranioectodermal Dysplasia 1 |
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Hepatomegaly, Brachydactyly, Broad toe, Rhizomelia, Short humerus, Malformation of the hepatic du... |
OMIM:218330 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Neonatal insulin-dependent ... |
ORPHA:556955 |
Charge Syndrome |
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Hypoparathyroidism, Hypoplasia of the ulna, Decreased response to growth hormone stimulation test... |
OMIM:214800 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Fryns Syndrome |
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Microretrognathia, Ectopic pancreatic tissue, Rocker bottom foot, Proximal placement of thumb, Cr... |
OMIM:229850 |
Jacobsen Syndrome |
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Micrognathia, Missing ribs, Cryptorchidism, Clinodactyly of the 5th finger, Annular pancreas, Bra... |
OMIM:147791 |
Bohring-Opitz Syndrome |
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Micrognathia, Inability to walk, Metacarpophalangeal joint contracture, Cholelithiasis, Annular p... |
ORPHA:97297 |
Kinsship Syndrome |
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Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, Polydactyly, ... |
OMIM:619297 |
Orofaciodigital Syndrome Type 4 |
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Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Mi... |
ORPHA:2753 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Broad hallux, Impulsivity, Aggressive behavior, Avascular necrosis of the capital ... |
ORPHA:353281 |
Congenital Alveolar Capillary Dysplasia |
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Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Br... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Br... |
ORPHA:353277 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Biliary hyperplasia, Congenit... |
ORPHA:731 |
Ulbright-Hodes Syndrome |
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Short humerus, Short metacarpal, Maternal diabetes, Micrognathia, Cryptorchidism, Humeroradial sy... |
ORPHA:3404 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Annular pancreas, Micrognathia |
OMIM:265380 |
Osteoporosis |
|
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OMIM:166710 |