Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... |
ORPHA:2779 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
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Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... |
OMIM:259270 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Polyphagia |
ORPHA:71529 |
Macrosomia Adiposa Congenita |
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Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Bardet-Biedl Syndrome 22 |
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Polydactyly, Polyphagia, Large for gestational age, Postaxial foot polydactyly, Obesity |
OMIM:617119 |
Kleine-Levin Hibernation Syndrome |
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Polyphagia |
OMIM:148840 |
Coxopodopatellar Syndrome |
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Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Aplasia/Hypopl... |
ORPHA:1509 |
Distal Arthrogryposis Type 1 |
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Adducted thumb, Rocker bottom foot, Ulnar deviation of finger, Overlapping fingers, Camptodactyly... |
ORPHA:1146 |
Body Mass Index Quantitative Trait Locus 20 |
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Obesity, Polyphagia |
OMIM:618406 |
Obesity, Hyperphagia, And Developmental Delay |
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Obesity, Polyphagia |
OMIM:613886 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Polyphagia, Small hand, Abnormality of ulnar metaphysis, Short foot, Obesity |
ORPHA:177910 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Obesity, Polyphagia |
ORPHA:329249 |
Obesity Due To Prohormone Convertase I Deficiency |
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Increased adipose tissue, Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Increased adipose tissue, Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity |
ORPHA:71526 |
Bardet-Biedl Syndrome 9 |
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Polydactyly, Polyphagia, Postaxial polydactyly, Polydipsia, Truncal obesity, Syndactyly, Postaxia... |
OMIM:615986 |
Leptin Deficiency Or Dysfunction |
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Obesity, Abnormal eating behavior, Polyphagia |
OMIM:614962 |
Hypochondroplasia |
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Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short long bone, Bra... |
OMIM:146000 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Metaphyseal irregularity, ... |
OMIM:250460 |
Ghosal Hematodiaphyseal Dysplasia |
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Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... |
ORPHA:1802 |
Renal Glucosuria |
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Polyphagia, Polydipsia |
OMIM:233100 |
Schaaf-Yang Syndrome |
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Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Polyphagia, Small hand, Arthrog... |
OMIM:615547 |
Type 1 Diabetes Mellitus |
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Polyphagia, Polydipsia |
OMIM:222100 |
Temple Syndrome |
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Small for gestational age, Polyphagia, Small hand, Short foot, Obesity, Clinodactyly of the 5th f... |
ORPHA:254516 |
Hypotonia-Cystinuria Syndrome |
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Failure to thrive, Polyphagia |
ORPHA:163690 |
Obesity Due To Sim1 Deficiency |
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Obesity, Polyphagia |
ORPHA:369873 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Obesity, Polyphagia |
OMIM:609734 |
Leptin Receptor Deficiency |
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Obesity, Abnormal eating behavior, Polyphagia |
OMIM:614963 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, Abnormality of pelvic girdle bone mo... |
ORPHA:2370 |
6Q16 Microdeletion Syndrome |
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Obesity, Polyphagia, Tapered finger |
ORPHA:171829 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Abnormal pelvis bone morphology, Obesity |
ORPHA:2206 |
Pick Disease Of Brain |
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Polyphagia |
OMIM:172700 |
2Q23.1 Microdeletion Syndrome |
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Polyphagia, Sandal gap, Hip dysplasia, Short palm, Clinodactyly of the 5th finger |
ORPHA:228402 |
Frontotemporal Dementia |
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Polyphagia |
OMIM:600274 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Ulnar deviation of finger, Truncal obesity, Camptodactyly of finger, Abnormality of pelvic girdle... |
ORPHA:2928 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Bowing of the long bones, Arachnodactyly, Sandal gap, Abnormality of pelvic girdle bone morpholog... |
ORPHA:2725 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
Graves Disease, Susceptibility To, 1 |
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Weight loss, Polyphagia |
OMIM:275000 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Obesity, Polyphagia |
ORPHA:411515 |
Weismann-Netter Syndrome |
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Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Huntington Disease |
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Polyphagia, Decreased body mass index, Weight loss, Choking episodes, Oral-pharyngeal dysphagia |
ORPHA:399 |
Hypochondroplasia |
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Genu varum, Abnormality of femur morphology, Bowing of the long bones, Abnormality of the metaphy... |
ORPHA:429 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Polyphagia, Small for gestational age, Large for gestational age |
ORPHA:324575 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Polyphagia, Large for gestational age |
ORPHA:276556 |
Léri-Weill Dyschondrosteosis |
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Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Polyphagia, Large for gestational age |
ORPHA:276575 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Hip dislocation, Short me... |
ORPHA:968 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Polyphagia, Large for gestational age |
ORPHA:276580 |
Cebalid Syndrome |
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Congenital diaphragmatic hernia, Polyphagia |
OMIM:618774 |
Man1B1-Cdg |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Polyphagia, Truncal obesity |
ORPHA:397941 |
Jeune Syndrome |
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Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... |
ORPHA:474 |
Endosteal Hyperostosis, Autosomal Dominant |
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Metatarsal diaphyseal endosteal sclerosis, Abnormality of pelvic girdle bone morphology, Thickene... |
OMIM:144750 |
Hypotonia-Cystinuria Syndrome |
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Failure to thrive, Polyphagia |
OMIM:606407 |
Coxoauricular Syndrome |
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Abnormality of pelvic girdle bone morphology, Hip dislocation, Abnormality of femur morphology |
ORPHA:1508 |
Trisomy 18P |
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Polyphagia, Abnormality of finger |
ORPHA:1715 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Abnormality of pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
Thoracomelic Dysplasia |
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Diaphyseal thickening, Abnormality of the metaphysis, Genu valgum, Abnormality of fibula morpholo... |
ORPHA:1803 |
Atelosteogenesis, Type Ii |
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Short middle phalanx of finger, Short greater sciatic notch, Bifid humerus, Hitchhiker thumb, San... |
OMIM:256050 |
Chromosome 22Q13 Duplication Syndrome |
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Polyphagia |
OMIM:615538 |
Luscan-Lumish Syndrome |
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Obesity, Advanced ossification of carpal bones, Polyphagia |
OMIM:616831 |
Prader-Willi Syndrome |
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Failure to thrive in infancy, Polyphagia, Small hand, Acromicria, Genu valgum, Radial deviation o... |
OMIM:176270 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Tibial bowing, Polyphagia, Prominent calcaneus, Small hand, Slender finger, Short foot, Broad hal... |
ORPHA:251028 |
Moebius Syndrome |
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Dysphagia, Lower limb undergrowth, Arthrogryposis multiplex congenita, Aplasia/Hypoplasia involvi... |
OMIM:157900 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Short foot, Small hand, Polyphagia, Sandal gap |
OMIM:156200 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Failure to thrive, Stippled calcification proximal humeral epiphyses, Flexion contracture, Short ... |
OMIM:222765 |
Insulinoma |
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Polyphagia, Increased body weight |
ORPHA:97279 |
Femoral-Facial Syndrome |
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Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Abnormality of pelvic girdle bone mor... |
ORPHA:1988 |
Sim1-Related Prader-Willi-Like Syndrome |
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Polyphagia, Failure to thrive, Small hand, Short foot, Hip dysplasia, Abdominal obesity, Obesity |
ORPHA:398079 |
Pycnodysostosis |
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Abnormality of pelvic girdle bone morphology, Osteolytic defects of the distal phalanges of the h... |
OMIM:265800 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralization, Metaphyseal irregul... |
OMIM:307800 |
Obesity Due To Congenital Leptin Deficiency |
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Obesity, Polyphagia |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Obesity, Polyphagia |
ORPHA:179494 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Small hand, Short foot, Hip dy... |
ORPHA:98754 |
Magel2-Related Prader-Willi-Like Syndrome |
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Polyphagia, Failure to thrive, Small hand, Short foot, Hip dysplasia, Abdominal obesity, Flexion ... |
ORPHA:398069 |
Pediatric-Onset Graves Disease |
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Failure to thrive, Polydipsia, Polyphagia |
ORPHA:525731 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Small hand, Short foot, Hip dy... |
ORPHA:98793 |
Secondary Short Bowel Syndrome |
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Failure to thrive, Weight loss, Polyphagia |
ORPHA:95427 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Small hand, Short foot, Hip dy... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Small hand, Short foot, Hip dy... |
ORPHA:177901 |
Osteogenesis Imperfecta, Type V |
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Abnormality of pelvic girdle bone morphology, Anterior radial head dislocation, Dentinogenesis im... |
OMIM:610967 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Obesity, Abnormal dental enamel morphology, Polyphagia |
ORPHA:251004 |
Adnp Syndrome |
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2-3 toe syndactyly, Polydactyly, Polyphagia, Abnormality of toe, Inguinal hernia, Abnormality of ... |
ORPHA:404448 |
Pseudohypoparathyroidism Type 1C |
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Short 3rd metacarpal, Short 5th metacarpal, Polyphagia, Short metatarsal, Short fifth metatarsal,... |
ORPHA:79444 |
Verloove Vanhorick-Brubakk Syndrome |
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Tarsal synostosis, Abnormality of femur morphology, Finger syndactyly, Abnormality of pelvic gird... |
ORPHA:3429 |
Prader-Willi-Like Syndrome |
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Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Small hand, Short foot, Hip dy... |
ORPHA:398073 |
Aredyld Syndrome |
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Cachexia, Abnormal dental enamel morphology, Lipoatrophy, Abnormality of pelvic girdle bone morph... |
ORPHA:1133 |
Osteopetrosis, Autosomal Dominant 1 |
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Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones |
OMIM:607634 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
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Metaphyseal widening, Abnormality of pelvic girdle bone morphology, Club-shaped distal femur, Erl... |
OMIM:123000 |
Grant Syndrome |
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Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone morphology, Bowing of the lon... |
ORPHA:2097 |
Chromosome Xq26.3 Duplication Syndrome |
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Polyphagia |
OMIM:300942 |
Prader-Willi Syndrome |
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Polyphagia, Failure to thrive, Small hand, Short foot, Hip dysplasia, Abdominal obesity |
ORPHA:739 |
Codas Syndrome |
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Abnormality of epiphysis morphology, Abnormal dental enamel morphology, Congenital hip dislocatio... |
ORPHA:1458 |
Pseudohypoparathyroidism Type 1A |
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Short 3rd metacarpal, Short 5th metacarpal, Polyphagia, Short metatarsal, Short fifth metatarsal,... |
ORPHA:79443 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Polyphagia, Reduced intrathoracic adipose tissue, Lipodystrophy, Reduced subcutaneous adipose tis... |
OMIM:608594 |
Angelman Syndrome |
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Obesity, Dysphagia, Polyphagia |
ORPHA:72 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Polyphagia, Reduced intrathoracic adipose tissue, Lipodystrophy, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Osteogenesis Imperfecta, Type Ii |
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Tibial bowing, Broad long bones, Small for gestational age, Crumpled long bones, Abnormality of p... |
OMIM:166210 |
7Q11.23 Microduplication Syndrome |
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Polyphagia, Long fingers, Congenital diaphragmatic hernia, Obesity, Inguinal hernia |
ORPHA:96121 |
Acrofacial Dysostosis, RodrÃguez Type |
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Hand oligodactyly, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Finger syndactyly, Aplas... |
ORPHA:1788 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Polyphagia |
OMIM:607485 |
Gangliocytoma |
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Polyphagia |
ORPHA:251937 |
Osteopetrosis, Autosomal Dominant 2 |
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Fractures of the long bones, Abnormality of pelvic girdle bone morphology |
OMIM:166600 |
Cleidocranial Dysplasia |
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Short clavicles, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysis morphology, Hypop... |
ORPHA:1452 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
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Broad long bones, Short metacarpal, Abnormality of pelvic girdle bone morphology, Short phalanx o... |
ORPHA:1422 |
Harrod Syndrome |
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Failure to thrive, Abnormality of pelvic girdle bone morphology, Arachnodactyly, Abnormal shoulde... |
ORPHA:2115 |
Paget Disease Of Bone 2, Early-Onset |
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Fractures of the long bones, Bowing of the long bones, Abnormality of pelvic girdle bone morphology |
OMIM:602080 |
1P36 Deletion Syndrome |
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Dysphagia, Polyphagia, Failure to thrive, Foot polydactyly, Short foot, Hip dysplasia, Camptodact... |
ORPHA:1606 |
Meier-Gorlin Syndrome 1 |
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Cutaneous finger syndactyly, Absent glenoid fossa, Genu varum, Aplasia/Hypoplasia of the patella,... |
OMIM:224690 |
Isolated Epispadias |
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Abnormality of pelvic girdle bone morphology |
ORPHA:93928 |
Craniopharyngioma |
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Obesity, Polyphagia |
ORPHA:54595 |
X-Linked Acrogigantism |
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Polyphagia |
ORPHA:300373 |
Bladder Exstrophy And Epispadias Complex |
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Abnormality of pelvic girdle bone morphology, Inguinal hernia |
OMIM:600057 |
Camurati-Engelmann Disease |
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Cortical thickening of long bone diaphyses, Abnormal diaphysis morphology, Abnormality of the uln... |
ORPHA:1328 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Failure to thrive, St... |
OMIM:302960 |
Spastic Paraplegia 9A, Autosomal Dominant |
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Abnormality of pelvic girdle bone morphology, Hiatus hernia, Carpal bone hypoplasia |
OMIM:601162 |
Cartilage-Hair Hypoplasia |
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Metaphyseal dysplasia, Metaphyseal widening, Short palm, Femoral bowing, Abnormality of pelvic gi... |
OMIM:250250 |
Intellectual Disability, Buenos-Aires Type |
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Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:3079 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obesity, Polydipsia, Polyphagia, Brachydactyly |
ORPHA:293987 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Diaphyseal thickening, Tibial bowing, Abnormality of epiphysis morphology,... |
ORPHA:175 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/Hypoplasia of the phalan... |
ORPHA:1112 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Metatarsus adductus, Dysphagia, Polyphagia, Short 5th finger, Short foot, Hip dysplasia, Camptoda... |
OMIM:607872 |
Sclerosteosis 1 |
|
Deviation of finger, Abnormality of pelvic girdle bone morphology, 2-3 finger syndactyly, Cortica... |
OMIM:269500 |
Early-Onset Schizophrenia |
|
Polyphagia |
ORPHA:96369 |
Spondylocarpotarsal Synostosis Syndrome |
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Tarsal synostosis, Capitate-hamate fusion, Epiphyseal dysplasia, Coxa vara, Carpal synostosis, Sh... |
OMIM:272460 |
Ellis Van Creveld Syndrome |
|
Capitate-hamate fusion, Failure to thrive, Synostosis of carpal bones, Genu valgum, Foot polydact... |
ORPHA:289 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Abnormality of pelvic girdle bone morphology, Growth arrest lines |
OMIM:102700 |
Fetal Akinesia Deformation Sequence 1 |
|
Rocker bottom foot, Small for gestational age, Arthrogryposis multiplex congenita, Slender long b... |
OMIM:208150 |
Saethre-Chotzen Syndrome |
|
Absent first metatarsal, Toe syndactyly, Hallux valgus, Partial duplication of the distal phalanx... |
OMIM:101400 |
Alström Syndrome |
|
Polyphagia, Short finger, Dorsocervical fat pad, Truncal obesity, Short toe, Obesity |
ORPHA:64 |