Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Polyphagia, Obesity |
OMIM:618406 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Polydactyly, Polyphagia |
OMIM:617119 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology, Polyphagia |
ORPHA:177910 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71526 |
Obesity And Hypopigmentation |
|
Polyphagia, Obesity |
OMIM:620195 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... |
OMIM:615986 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Sandal gap, Abnormal repetitive mannerisms, Self-injurious behavior, Hip dysplasia... |
ORPHA:228402 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Rocker bottom foot, Impulsivity, Tapered finger, Flexion contractur... |
OMIM:615547 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior |
OMIM:614963 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Temple Syndrome |
|
Small for gestational age, Small hand, Obesity, Short foot, Clinodactyly of the 5th finger, Polyp... |
ORPHA:254516 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums, Tapered finger |
ORPHA:171829 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Reduced bone ... |
ORPHA:1508 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Agitation, Polyphagia, Large for gestational age |
ORPHA:324575 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic girdle bone ... |
ORPHA:2928 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ... |
OMIM:123000 |
Luscan-Lumish Syndrome |
|
Obesity, Polyphagia, Advanced ossification of carpal bones, Aggressive behavior |
OMIM:616831 |
Man1B1-Cdg |
|
Clinodactyly of the 5th finger, Truncal obesity, Polyphagia, 2-3 toe syndactyly |
ORPHA:397941 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Restlessness, Broad hallux, Aggressive behavior, Slender finger, Small hand, Tibial b... |
ORPHA:251028 |
Weaver Syndrome |
|
Inguinal hernia, Short fourth metatarsal, Toe clinodactyly, Overlapping toe, Coxa valga, Hypoplas... |
OMIM:277590 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Short toe, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:429 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis, Small hand, Obesity, Short foot, Hip dysplasia, Abdominal obesity, Skin... |
ORPHA:398079 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Failure to thrive, Small for gestational age, Bulimia, Osteoporosis, Small hand, Obes... |
ORPHA:98793 |
Trisomy 18P |
|
Abnormal finger morphology, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Failure to thrive, Small for gestational age, Bulimia, Osteoporosis, Small hand, Obes... |
ORPHA:177904 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Impulsivity, Flexion contracture, Osteoporosis, Small hand, Increased body weight, Sh... |
ORPHA:398069 |
Léri-Weill Dyschondrosteosis |
|
Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tibial bowing, ... |
ORPHA:240 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Failure to thrive, Small for gestational age, Bulimia, Osteoporosis, Small hand, Obes... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small for gestational age, Bulimia, Osteoporosis, Small hand, Obesity, Short foot, Se... |
ORPHA:98754 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short palm, Sandal gap, Aggressive behavior, Short foot, Self-injurious behavior, Hip dysplasia, ... |
OMIM:156200 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Failure to thrive in infancy, Acromicria, Osteoporosis, Small hand, Obesi... |
OMIM:176270 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Enamel hypomineralization, Ricket... |
OMIM:307800 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Ante... |
OMIM:610967 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
OMIM:606407 |
Jeune Syndrome |
|
Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped epiphysis, Ab... |
ORPHA:474 |
Osteopetrosis, Autosomal Dominant 2 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Fractures of the long bones, ... |
OMIM:166600 |
Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Abnormal pelvic girdle bone morphology, A... |
ORPHA:2097 |
Adnp Syndrome |
|
Inguinal hernia, Broad hallux, Sandal gap, Aggressive behavior, Oral-pharyngeal dysphagia, Abnorm... |
ORPHA:404448 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... |
ORPHA:72 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Craniosynostosis, Polydipsia, Failure to thrive, Polyphagia |
ORPHA:525731 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metatarsal, Obesi... |
ORPHA:79444 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Lower limb undergr... |
OMIM:157900 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnormal pelvic gir... |
OMIM:256050 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal metaphy... |
ORPHA:1803 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Abnormal dental enamel morphology, Craniosynostosis, Obesity |
ORPHA:251004 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, S... |
ORPHA:79443 |
Insulinoma |
|
Polyphagia, Increased body weight |
ORPHA:97279 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormal pel... |
ORPHA:1133 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Obesity |
ORPHA:66628 |
Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Abdominal obesity, Attention def... |
ORPHA:739 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Obesity |
ORPHA:179494 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodystrophy, Reduced intraabd... |
OMIM:608594 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Flexion contracture, Epiphyseal stippling, Abnormal p... |
OMIM:222765 |
Helsmoortel-Van Der Aa Syndrome |
|
Prominent fingertip pads, Hyperactivity, Sandal gap, Broad hallux, Tapered finger, Abnormal repet... |
OMIM:615873 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Absent ossification of calvaria... |
OMIM:166210 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodystrophy, Reduced intraabd... |
OMIM:269700 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal dental enamel morphology, Down-sloping shoulders, Tapered finger, ... |
ORPHA:1452 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Anorexia, ... |
ORPHA:1328 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Increased skull ossification, Abnormal shoulder morphology, A... |
ORPHA:1422 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... |
ORPHA:1788 |
Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Sandal gap, Aggressive behavior, Hair-pulling, Long fingers, Polyphagia, Cutaneous s... |
OMIM:620330 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Abnormal repetitive mannerisms, Obesity, Short foot, Self-injurious beha... |
ORPHA:1606 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Metatarsus adductus, Obesity, Dysphagia, Short foot... |
OMIM:607872 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphag... |
ORPHA:293987 |
Craniopharyngioma |
|
Polyphagia, Obesity |
ORPHA:54595 |
X-Linked Acrogigantism |
|
Polyphagia |
ORPHA:300373 |
Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology, Inguinal hernia |
OMIM:600057 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop... |
ORPHA:1112 |
Alström Syndrome |
|
Dorsocervical fat pad, Short toe, Obesity, Truncal obesity, Hyperostosis frontalis interna, Short... |
ORPHA:64 |