| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Polyphagia, Obesity |
OMIM:618406 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Obesity And Hypopigmentation |
|
Polyphagia, Obesity |
OMIM:620195 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
| Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior |
OMIM:614963 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71526 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity |
ORPHA:177910 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact... |
OMIM:615547 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Agitation, Small for gestational age, Polyphagia, Large for gestational age |
ORPHA:324575 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
| Temple Syndrome |
|
Polyphagia, Small for gestational age, Obesity |
ORPHA:254516 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276575 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... |
ORPHA:77297 |
| Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
| Luscan-Lumish Syndrome |
|
Polyphagia, Advanced ossification of carpal bones, Aggressive behavior, Obesity |
OMIM:616831 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia, Joint hypermobility |
ORPHA:397941 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Anorexia, Osteoarthritis, Osteolysis, Pathologic frac... |
ORPHA:77259 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
OMIM:606407 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Failure... |
OMIM:239000 |
| Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small for gestational age, Bulimia, Osteoporosis, Obesity, Self-injurious behavior, O... |
ORPHA:98793 |
| Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small for gestational age, Bulimia, Osteoporosis, Obesity, Self-injurious behavior, O... |
ORPHA:177904 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small for gestational age, Bulimia, Osteoporosis, Obesity, Self-injurious behavior, O... |
ORPHA:177901 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Craniosynostosis, Polydipsia, Failure to thrive, Polyphagia |
ORPHA:525731 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis, Obesity, Abdominal obesity, Abnormal temper tantrums, Skin-picking, Fai... |
ORPHA:398079 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Impulsivity, Flexion contracture, Osteoporosis, Increased body weight, Abdominal obes... |
ORPHA:398069 |
| Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... |
ORPHA:72 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small for gestational age, Bulimia, Osteoporosis, Obesity, Self-injurious behavior, A... |
ORPHA:98754 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Recurrent fractures, Craniosynostosis, Obesity |
ORPHA:251004 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... |
ORPHA:763 |
| Insulinoma |
|
Polyphagia, Increased body weight |
ORPHA:97279 |
| Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Restlessness, Aggressive behavior, Generalized joint laxity, Increased susceptibility... |
ORPHA:251028 |
| Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Obesity |
ORPHA:66628 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Obesity |
ORPHA:179494 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, I... |
OMIM:618476 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
| Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness |
ORPHA:902 |
| Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Weight loss, Sclerosis of skull base, Acrocyanosis |
ORPHA:2905 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Prader-Willi Syndrome |
|
Osteopenia, Failure to thrive in infancy, Osteoporosis, Obesity, Self-injurious behavior, Abdomin... |
OMIM:176270 |
| Desmosterolosis |
|
Increased bone mineral density, Failure to thrive, Osteopetrosis |
ORPHA:35107 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Polydipsia |
ORPHA:35687 |
| Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Abdominal obesity, Attention def... |
ORPHA:739 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
| Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density, Polyphagia, Obesity |
ORPHA:79444 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int... |
ORPHA:79443 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Craniosynostosis, Aggressive behavior, Polyphagia, Obesity, Self-in... |
ORPHA:96121 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca... |
ORPHA:90652 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
| Adnp Syndrome |
|
Joint laxity, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Compulsive behavio... |
ORPHA:404448 |
| Weaver Syndrome |
|
Polyphagia, Camptodactyly, Limited knee extension, Joint contracture of the hand, Limited elbow e... |
OMIM:277590 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Acrocyanosis |
OMIM:259900 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis |
ORPHA:33364 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones |
OMIM:127000 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Hyperactivity, Abnormal repetitive mannerisms, Obesity, Bruxism, Dysphagia, Truncal... |
OMIM:615873 |
| Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
| Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation |
OMIM:259775 |
| Desmosterolosis |
|
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... |
OMIM:602398 |
| Craniopharyngioma |
|
Polyphagia, Obesity, Increased susceptibility to fractures |
ORPHA:54595 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Acrocyanosis, Recurrent fractures |
ORPHA:416 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia... |
ORPHA:293987 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior... |
OMIM:620330 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| X-Linked Acrogigantism |
|
Polyphagia |
ORPHA:300373 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Joint stiffness, Polyphagia, Obesity, Self-injurious behavior, Dysphagia... |
ORPHA:1606 |
| Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Failure to thrive in infancy, Joint sti... |
ORPHA:904 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cystic angiomatosis of bone, Polyphagia |
OMIM:608594 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Cystic angiomatosis of bone, Polyphagia |
OMIM:269700 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Obesity, Dysphagia, Camptodactyly, Polyphagia, Self... |
OMIM:607872 |
| Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Failure to thrive, Recurrent fractures |
ORPHA:2785 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ... |
OMIM:269150 |
| Alström Syndrome |
|
Truncal obesity, Hyperostosis frontalis interna, Polyphagia, Obesity |
ORPHA:64 |
