Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Hypertension, Complete duplication of the distal phalanges of the hand, Multiple... |
ORPHA:1879 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Buschke-Ollendorff Syndrome |
|
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... |
ORPHA:566943 |
Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Dementia, Increased bone density w... |
OMIM:136300 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... |
ORPHA:2485 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Bilateral coxa valga, Hypertrophic cardiomyopathy |
OMIM:620270 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Small for gestational age |
ORPHA:90050 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinemia, Cognitive impairment |
OMIM:238700 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Increased bone mineral density, Confusion, Depression, Abnormal left ventr... |
ORPHA:36913 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... |
ORPHA:208441 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifica... |
OMIM:215045 |
Pseudohypoparathyroidism Type 1C |
|
Short metatarsal, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the thumb, Short 5th... |
ORPHA:79444 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphol... |
ORPHA:464329 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Broad distal p... |
ORPHA:79443 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal digit morphology, Irritability, Abnormal cortical bo... |
OMIM:300831 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Ck Syndrome |
|
Long toe, Hyperactivity, Aggressive behavior, Long fingers, Irritability, Abnormal circulating ch... |
ORPHA:251383 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... |
OMIM:259700 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... |
ORPHA:99827 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... |
OMIM:620366 |
Lujo Hemorrhagic Fever |
|
Shock, Stiff neck, Confusion, Elevated circulating C-reactive protein concentration, Excessive bl... |
ORPHA:319213 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Tapered finger, Long fingers, Clin... |
OMIM:609425 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Flat acetabular roof, Flattened epiphysis, Hemiatroph... |
ORPHA:163649 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Cortical subperiosteal resorpt... |
ORPHA:94089 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Confusion, Hematemesis, Elevated circulating creatinine concentrat... |
ORPHA:340 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... |
OMIM:261600 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Hypoalbuminemia, Internal hemorrhag... |
ORPHA:99826 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Exudative Vitreoretinopathy 4 |
|
Osteopenia, Vitreous hemorrhage |
OMIM:601813 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Depression, Self-injurious behavior, Comp... |
OMIM:619467 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Vasculitis |
ORPHA:37748 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Mental deterioration, Diaphyseal scler... |
OMIM:618476 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures, Petechiae |
OMIM:611490 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Werner Syndrome |
|
Increased bone mineral density, Telangiectasia of the skin, Lipodystrophy, Myocardial infarction,... |
ORPHA:902 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Coxa vara, Wrist flexion contract... |
ORPHA:800 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... |
ORPHA:1782 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... |
OMIM:224300 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int... |
OMIM:620141 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... |
ORPHA:77297 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Overweight, Generalized osteosclerosis,... |
ORPHA:763 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short fourth metatarsal, Short metacarpal, Aggressive behavior, Short toe, Type E ... |
OMIM:600430 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Obesity, Cone-shaped epiphyse... |
ORPHA:397973 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Vasculitis, Hematochezia, Subconjunctival ... |
OMIM:617718 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Reduced bone mineral density, Long fibula, Cognitive impairment, Abnormal metaph... |
ORPHA:935 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Genu v... |
OMIM:131300 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Anorexia, Osteoarthritis, Osteolysis, Pulmonary arter... |
ORPHA:77259 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Sandal gap, Aggressive behavior, Diminished ability to concentrate, Recurrent hand... |
OMIM:615516 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Irritability, Stillbirth... |
OMIM:259720 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, High iliac wing, Aortic valve stenosis, Osteopetrosis, Large ilia... |
ORPHA:2780 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Small for gestational age, Osteoporosis, Truncal obesity, At... |
ORPHA:73272 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Bowing of the long bones, Camptod... |
ORPHA:90652 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization, Reduced bone mineral den... |
ORPHA:891 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Arachnodactyly, Heart murmur, Pulmonic stenosis, Attention deficit ... |
OMIM:617600 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity... |
OMIM:614613 |
Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density, Enamel hypomineralization, Dental enamel pits |
ORPHA:3352 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur... |
OMIM:615368 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short attention span, Hyperactivity, Decreased body weight, Clinodactyly of the 5th f... |
OMIM:608747 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dent... |
ORPHA:2658 |
Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss... |
ORPHA:2905 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly... |
OMIM:620242 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Progressive neurologic deterioration, Joint stiffness, Aggressive behavior, Asymme... |
OMIM:252920 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior,... |
ORPHA:100924 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Recurrent fractures, Retinal neovascularization |
OMIM:133780 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Congestive heart failure, Osteolysis, Weight loss,... |
ORPHA:35687 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Limited kn... |
ORPHA:239 |
Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Congestive heart failure, Weight loss, Irritability, Polyphagia |
OMIM:275000 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Atrioventricu... |
ORPHA:93317 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Subperiosteal bone formatio... |
OMIM:259775 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Epistaxis, Osteopetrosis, Petechiae |
OMIM:612840 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability,... |
ORPHA:449291 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Mental deterioration, Obesity, Preaxial polydactyly, Low frus... |
ORPHA:163681 |
Gaucher Disease |
|
Osteopenia, Abnormal bleeding, Increased bone mineral density, Osteomyelitis, Recurrent fractures... |
ORPHA:355 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Subconjunctival ... |
ORPHA:509 |
Atelis Syndrome 2 |
|
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Attention deficit hyperac... |
OMIM:620185 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Raynaud phenomen... |
OMIM:611773 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Joint stiffness, Motor deterioration, Asymmetric septal hypertrophy, Hernia, Dysph... |
OMIM:252930 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of ... |
OMIM:119600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Aggressive ... |
OMIM:309520 |
Desmosterolosis |
|
Increased bone mineral density, Micromelia, Metatarsus adductus, Osteopetrosis, Failure to thrive |
ORPHA:35107 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr... |
OMIM:610442 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Inguinal hernia, Joint stiffness, Asymmetric septal hypertrophy, Umbilical hernia,... |
OMIM:252900 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypoc... |
OMIM:241410 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Osteolytic defects of the distal phalanges of ... |
OMIM:265800 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... |
ORPHA:33364 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Short palm, Increased ... |
ORPHA:79474 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Psychomotor deterioration, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Subretinal... |
ORPHA:357074 |
Desmosterolosis |
|
Failure to thrive, Rhizomelia, Generalized osteosclerosis, Abnormal circulating cholesterol conce... |
OMIM:602398 |
Incontinentia Pigmenti |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal dental enamel mo... |
ORPHA:464 |
Retinoblastoma |
|
Vitreous hemorrhage, Cellulitis, Hyphema, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventr... |
OMIM:259900 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Small hand, Short foot, Hyperphosphatem... |
ORPHA:2323 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Compulsive... |
ORPHA:904 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Congestive heart failure, Vasculitis, Retinal h... |
ORPHA:33226 |
Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Abnormal circulating protein concentration, Abnormal circulating albumin conce... |
ORPHA:86839 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures, Dementia, Pulm... |
ORPHA:77261 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Osteomyelitis, Autoamputation of digits, Corneal scarring, Emotional lability, Pos... |
OMIM:256800 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Heart block, Generalized osteosclerosis, Raynaud phenomenon, ... |
ORPHA:416 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, F... |
ORPHA:261552 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Osteopetrosis |
ORPHA:3240 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage, Dementia, Cognitive impairment, Dysphagia |
ORPHA:25 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hy... |
OMIM:614653 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Trichinellosis |
|
Confusion, Retinal hemorrhage, Irritability, Dysphagia, Memory impairment |
ORPHA:863 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding |
ORPHA:88 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivity, Broad hallux, ... |
ORPHA:353281 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... |
ORPHA:91500 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
Rift Valley Fever |
|
Abnormal bleeding, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding |
ORPHA:319251 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Osteomyelitis, Short attention span, Fasciitis, Impulsivity, Corneal ... |
ORPHA:642 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Elevated circulating creatine kinase concentration, Osteopetrosis, Hypocalce... |
ORPHA:2785 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Syndactyly, Hyperactivity, Br... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Syndactyly, Hyperactivity, Br... |
ORPHA:353277 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Weight loss, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Cachexia, Retinal hemorrhage, Contractures of the large join... |
ORPHA:191 |
Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Osteomalacia, Left ventricular systolic dysfunction, Failure to thrive... |
ORPHA:51608 |
Cockayne Syndrome Type 3 |
|
Progressive neurologic deterioration, Flexion contracture, Subdural hemorrhage, Retinal hemorrhag... |
ORPHA:90324 |
Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
Incontinentia Pigmenti |
|
Scarring, Retinal hemorrhage |
OMIM:308300 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Pierson Syndrome |
|
Hypertension, Hypoproteinemia, Retinal hemorrhage |
OMIM:609049 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Retinal hemorrhage, Isch... |
OMIM:175780 |
Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |