| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Abnormal cortical bone morphology, Hypertension, Osteopoikilosis, Complete dupl... |
ORPHA:1879 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Failure to thrive, Dense metaphyseal bands,... |
OMIM:615198 |
| Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Keloids, Increased b... |
ORPHA:166119 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Arthritis, Sclerosis of foo... |
ORPHA:564003 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Connective tissue nevi, Osteopoikilosis |
OMIM:166700 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Mueller-Weiss Syndrome |
|
Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibial torsion, Sclerosis of f... |
ORPHA:566943 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... |
ORPHA:3416 |
| Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Dementia, Joint stiff... |
OMIM:136300 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:166740 |
| Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Failure to thrive, Hyperostosis, Atyp... |
ORPHA:2485 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Brachydactyly |
DECIPHER:8 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... |
ORPHA:90650 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Retinopathy Of Prematurity |
|
Small for gestational age, Vitreous hemorrhage |
ORPHA:90050 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Buschke-Ollendorff Syndrome |
|
Flexion contracture, Recurrent fractures, Connective tissue nevi, Cutaneous finger syndactyly, Ar... |
ORPHA:1306 |
| Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Abnormality of limb bone morph... |
ORPHA:2204 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Tapered finger, Small for gestational age, Clinodactyly of th... |
OMIM:609425 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Increased bone minera... |
ORPHA:628 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... |
OMIM:611497 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Wide distal femoral metaph... |
OMIM:614856 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... |
OMIM:607634 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Kaposiform Lymphangiomatosis |
|
Abnormality of the ischium, Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecch... |
ORPHA:464329 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Generalized osteosclerosis, Flared metaphysis, Stillbirth,... |
OMIM:215045 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Retinal Capillary Malformation |
|
Hyphema, Vitreous hemorrhage |
ORPHA:71213 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Clinodactyly of the 5th finger, Agitation, Impulsivity |
ORPHA:100973 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... |
ORPHA:2502 |
| Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Erlenmeyer flask defor... |
ORPHA:210110 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... |
OMIM:166600 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Albers-Schönberg Osteopetrosis |
|
Genu valgum, Osteomyelitis, Recurrent fractures, Arthritis, Abnormal metacarpal morphology, Gener... |
ORPHA:53 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
| Lethal Recessive Chondrodysplasia |
|
Flared elbow metaphyses, Generalized osteosclerosis, Short long bone |
ORPHA:1423 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal cortical bone morphology, Joint hypermobility, Abnor... |
OMIM:300831 |
| Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Ventricular arrhythmia, Abnormal left ventricular function, Prolo... |
ORPHA:36913 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Myocarditis, Stiff neck, Anxiety, Purpura, Ecchymosis, Shock, Dysphagia, Excessive b... |
ORPHA:319213 |
| Pseudohypoparathyroidism Type 1C |
|
Broad distal phalanx of the thumb, Enamel hypoplasia, Short 4th metacarpal, Short 5th metacarpal,... |
ORPHA:79444 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Hip contracture, Cerebral hemorrhage, Osteolysis involvi... |
ORPHA:464321 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Coxa valga, Increased bone mineral density, Flat acetabular roof, Abn... |
ORPHA:163649 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Abnormal aggressive, ... |
ORPHA:3077 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density... |
OMIM:259700 |
| Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage, Osteopenia |
OMIM:601813 |
| X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Sacroiliac joint synovitis, Reduced... |
ORPHA:89936 |
| Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Increased bone mineral density, Reduced bone mineral density, Ectopic ossif... |
ORPHA:79443 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
2-3 toe syndactyly, Hyperactivity, Aggressive behavior, Self-injurious behavior, Short finger, Cl... |
OMIM:619467 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... |
ORPHA:99827 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Joint hypermobility, Long toe, Slender build, Long fingers, I... |
ORPHA:251383 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Broad femoral neck, Coxa valga, Short tubular bones of the hand, Increased bone... |
ORPHA:85184 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Short humerus, Ankylosis, Failure to thrive,... |
OMIM:239000 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Vasculitis, Arthritis |
ORPHA:37748 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures, Petechiae |
OMIM:611490 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety... |
OMIM:261600 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis, Diaphyseal dysplasia |
OMIM:231095 |
| Dysosteosclerosis |
|
Recurrent fractures, Increased bone mineral density, Coarse metaphyseal trabecularization, Cranio... |
ORPHA:1782 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Increased bone density with cystic changes, Increased bone mineral density, Di... |
ORPHA:94089 |
| Werner Syndrome |
|
Chondrocalcinosis, Small hand, Increased bone mineral density, Congestive heart failure, Hyperten... |
ORPHA:902 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn... |
ORPHA:3344 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... |
OMIM:250220 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Mental deterioration, Personality disorder |
ORPHA:2382 |
| Dysosteosclerosis |
|
Short diaphyses, Increased susceptibility to fractures, Short sternum, Broad femoral neck, Sclero... |
OMIM:224300 |
| Landau-Kleffner Syndrome |
|
Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional lability, Im... |
ORPHA:98818 |
| Majeed Syndrome |
|
Increased susceptibility to fractures, Metaphyseal irregularity, Flexion contracture, Osteomyelit... |
ORPHA:77297 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Cognitive impairment, Inguinal hernia, Long fibula, Abnormal metaphysis morphology, Reduced bone ... |
ORPHA:935 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Decreased body weight, Petechiae, Intracranial hemorrhage, Agitation, Internal hemor... |
ORPHA:340 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Tall stature, Anxiety |
OMIM:300979 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... |
OMIM:619827 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short phalanx of finger, Short toe, Hyperactivity, Aggressive behavior, Self-injurious behavior, ... |
OMIM:600430 |
| Camurati-Engelmann Disease |
|
Genu valgum, Increased bone mineral density, Reduced subcutaneous adipose tissue, Cortical thicke... |
OMIM:131300 |
| Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Decreased body weight, Coxa valga, Increased bone m... |
ORPHA:800 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Obesity |
OMIM:301013 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cognitive impairment, Erlenmeyer flask deformity of the femurs, Increased skull ossification, Dia... |
OMIM:618476 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior, Clinodactyly, Sandal gap, Anxiety, Obesity |
OMIM:617752 |
| Pycnodysostosis |
|
Hypoplastic iliac wing, Increased susceptibility to fractures, Enamel hypoplasia, Small hand, Cor... |
ORPHA:763 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Facial telangiectasia, Contracture of the proximal interphala... |
OMIM:620141 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Genu varum, Coxa vara, Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral ... |
ORPHA:289176 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Abnormal metaphysis morphology, Large iliac wing, Increased bone mineral density, Coarse metaphys... |
ORPHA:2780 |
| Familial Exudative Vitreoretinopathy |
|
Retinal neovascularization, Macular telangiectasia, Vitreous hemorrhage, Reduced bone mineral den... |
ORPHA:891 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hallux valgus, Obesity, Cone-shaped epiphyses of the 2nd toe, Cone-shaped epiphyse... |
ORPHA:397973 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Abnormal epiphysis morph... |
ORPHA:240 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density, Brachydactyly, Abnormal m... |
ORPHA:1798 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Finger clinodactyly, Enamel hypomineralization |
ORPHA:3352 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Short thumb, Increased bone mineral density, Synostosis of carpal bones,... |
ORPHA:90652 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Arachnodactyly, Heart murmur, Attention deficit hyperactivity disorder, Anxiety, S... |
OMIM:617600 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Happy demeanor, Inappropriate laughter, Polyphagia, Obesity |
ORPHA:411515 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Posterior retinal neovascularization, Vitreous hemorrhage |
OMIM:193235 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Genu valgum, Osteomyelitis, Recurrent fractures, Decreased osteoclast count, Diaphyseal sclerosis... |
OMIM:259710 |
| Craniometaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Juvenile Huntington Disease |
|
Hyperactivity, Weight loss, Dementia, Depression, Irritability |
ORPHA:248111 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Hyperactivity, Advanced ossification of carpal bones, Short metacarpal, ... |
OMIM:614613 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Abnormal... |
ORPHA:2658 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Aggressive behavior, Hypovolemia, Petechiae, Arthritis, Abnormal bleeding, Bruising ... |
ORPHA:99826 |
| 16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Hyperactivity, Tapered finger, Hallux valgus, Short 5th finger, Brachydactyly... |
ORPHA:485405 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hip subluxation, Increased bone mineral density, Irritability, Decreased osteoclast count, Flared... |
OMIM:259720 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... |
OMIM:114000 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Metaphyseal sclerosis, Weight loss, Sclerosis of foot bone, Club... |
ORPHA:2905 |
| Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Anxiety, Impulsivity, Abnormal eating behavior |
ORPHA:101039 |
| Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Aggressive behavior, Finger joint hypermobility, Hip dysplasia, Clinodactyly of th... |
OMIM:301069 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Vasculitis in the skin, Failure to thrive, Subconjunctival hemorrhage, Hematochezia, ... |
OMIM:617718 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Increased bone mineral density, Bruising susceptibility, Osteoly... |
ORPHA:77259 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Asymmetric septal hypertrophy, Dense calvaria, Progressive ne... |
OMIM:252920 |
| Exudative Vitreoretinopathy 1 |
|
Retinal neovascularization, Vitreous hemorrhage, Recurrent fractures |
OMIM:133780 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Congestive heart failure, Polyphagia, Irritability |
OMIM:275000 |
| Eales Disease |
|
Vitreous hemorrhage, Ischemic stroke, Transient ischemic attack, Peripheral retinal neovasculariz... |
ORPHA:40923 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Sandal gap, Self-mutilation |
OMIM:615516 |
| 2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Hip dysplasia, Clinodactyl... |
ORPHA:228402 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Osteopetrosis, Abnormal bleeding, Petechiae |
OMIM:612840 |
| 19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Hip subluxation, Hyperactivity, Self-injurious behavior, Hip dys... |
ORPHA:447980 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Weight loss, Increased bone mineral density, Congestive heart failure, Osteolysis,... |
ORPHA:35687 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Knee flexion contracture, Short phalanx of finger, Hip subluxation, Triangular shaped distal phal... |
OMIM:271665 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Iliac crest serration, Myocarditis, Short metacarpal, Atrioventricular block, Metaphyseal chondro... |
ORPHA:93317 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Hip dysplasia, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, ... |
ORPHA:412035 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Self-injurious behavior, Finger syndactyly, Clinodactyly of the 5th finger, Aortic... |
ORPHA:254346 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic iliac wing, Increased susceptibility to fractures, Enamel hypoplasia, Aplastic clavic... |
OMIM:119600 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Clinodactyly, Clinodactyly of the 5th finger, Failure t... |
ORPHA:73272 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Metaphyseal ... |
OMIM:610442 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Flexion contracture, Aggressive behavior, Hyperextensibility of the finger joints,... |
OMIM:309520 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
| Raine Syndrome |
|
Enamel hypoplasia, Increased bone mineral density, Long hallux, Subperiosteal bone formation, Bra... |
OMIM:259775 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Flexion contracture, Small for gestational age, Subdural hemorrhage, Congenit... |
OMIM:615368 |
| Blomstrand Lethal Chondrodysplasia |
|
Metaphyseal cupping, Aplastic clavicle, Short metacarpal, Increased bone mineral density, Synosto... |
ORPHA:50945 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Hernia, Motor deterioration, Asymmetric septal hypertrophy, Dense calvaria, Dyspha... |
OMIM:252930 |
| Insulin-Like Growth Factor I Deficiency |
|
Clinodactyly of the 5th finger, Hyperactivity, Decreased body weight, Osteopenia |
OMIM:608747 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hyperactivity, Aggressive behavior, Short foot, Small hand, Toe syndacty... |
ORPHA:85293 |
| Pycnodysostosis |
|
Aplastic clavicle, Increased bone mineral density, Narrow iliac wing, Osteolytic defects of the d... |
OMIM:265800 |
| Vitreoretinochoroidopathy |
|
Retinal neovascularization, Vitreous hemorrhage |
OMIM:193220 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Failure to thrive, Metatarsus adductus |
ORPHA:35107 |
| Gaucher Disease |
|
Pulmonary arterial hypertension, Osteomyelitis, Recurrent fractures, Increased bone mineral densi... |
ORPHA:355 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Vasculi... |
OMIM:192315 |
| Trichothiodystrophy |
|
Enamel hypoplasia, Absence of subcutaneous fat, Multiple joint contractures, Increased bone miner... |
ORPHA:33364 |
| Dyggve-Melchior-Clausen Disease |
|
Iliac crest serration, Hyperactivity, Hypoplastic acetabulae, Genu valgum, Coxa vara, Broad femor... |
ORPHA:239 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Joint laxity, Hypertension, Attentio... |
ORPHA:449291 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Sinus tachycardia, Congestive heart failure, Emotional lability, Hypertension, Fai... |
ORPHA:525731 |
| Retinoblastoma |
|
Hyphema, Vitreous hemorrhage, Subretinal pigment epithelium hemorrhage, Cellulitis |
ORPHA:790 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Preaxial polydactyly, Skin-picking, Mental deterioration, Low... |
ORPHA:163681 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Asymmetric septal hypertrophy, Dense calvaria, Inguinal hernia, Joint stiffness, U... |
OMIM:252900 |
| Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
| Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Rocker bottom foot, Decreased body weight, Lipoa... |
ORPHA:79474 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Cognitive impairment, Dementia, Attention deficit hyperactivi... |
ORPHA:43 |
| Incontinentia Pigmenti |
|
Camptodactyly of finger, Retinal hemorrhage, Pulmonary arterial hypertension, Cognitive impairmen... |
ORPHA:464 |
| 12Q14 Microdeletion Syndrome |
|
Failure to thrive, Clinodactyly of the 5th finger, Osteopoikilosis |
ORPHA:94063 |
| Sclerosteosis 1 |
|
Cognitive impairment, Facial palsy secondary to cranial hyperostosis, 2-3 finger syndactyly, Scle... |
OMIM:269500 |
| Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density, Small for gestational age, Abnorm... |
OMIM:127000 |
| Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Generalized joint laxity, Abnormal subcutaneous fat tissue distribution, Psychomotor deterioratio... |
ORPHA:357074 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Increased bone mineral de... |
ORPHA:77261 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Patchy osteosclerosis, Short foot, Small hand |
OMIM:241410 |
| Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Retinal hemorrhage, Multiple lipomas, Restrictive cardiomyopathy, Angina pe... |
ORPHA:758 |
| Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Subconjunctival ... |
ORPHA:509 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
| Williams Syndrome |
|
Sudden cardiac death, Hallux valgus, Increased bone mineral density, Supravalvular aortic stenosi... |
ORPHA:904 |
| Hyperoxaluria, Primary, Type I |
|
Arterial occlusion, Increased bone mineral density, Intermittent claudication, Raynaud phenomenon... |
OMIM:259900 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Genu valgum, Flexion contracture, Arachnodactyly, Hallux valgus, Hyphema, Long hallux, Camptodact... |
ORPHA:261552 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... |
OMIM:264800 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Osteomyelitis, Corneal scarring, Emotional lability, Self-mutilation, Postural hyp... |
OMIM:256800 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon |
OMIM:611773 |
| Sanjad-Sakati Syndrome |
|
Short foot, Patchy osteosclerosis, Small hand, Abnormal dental enamel morphology |
ORPHA:2323 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Cognitive impairment, Dementia, Subdural hemorrhage, Dysphagia |
ORPHA:25 |
| Primary Hyperoxaluria |
|
Recurrent fractures, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Generaliz... |
ORPHA:416 |
| Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Purpura, Congestive heart failure, Epistaxis, Gingival bleeding, Gastrointest... |
ORPHA:33226 |
| Desmosterolosis |
|
Failure to thrive, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contract... |
OMIM:602398 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Bowing of the long bones, Recurrent fractures, Bruising suscepti... |
ORPHA:667 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis |
OMIM:259730 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Idiopathic Aplastic Anemia |
|
Epistaxis, Retinal hemorrhage, Gingival bleeding, Ecchymosis |
ORPHA:88 |
| Phacoanaphylactic Uveitis |
|
Retinal arteritis, Hyphema |
ORPHA:209959 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage |
OMIM:177850 |
| Trichinellosis |
|
Retinal hemorrhage, Apathy, Dysphagia, Irritability, Memory impairment |
ORPHA:863 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short sternum, Wide distal femoral metaphysis, Short 1st metacarpal, Increased density of long bo... |
OMIM:269150 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Flexion contracture, Limited hip extension, Corneal scarring, Hypertension, B... |
OMIM:614653 |
| Mucopolysaccharidosis Type 2 |
|
Cardiomyopathy, Flexion contracture of digit, Contractures of the large joints, Aggressive behavi... |
ORPHA:580 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Intraretinal hemorrhage |
ORPHA:411527 |
| Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Abnormal bleeding, Palpitations |
ORPHA:86839 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad hallux, Aggressive behavior, Avascular necrosis of the capital femoral epiphysis, Obesity, ... |
ORPHA:353281 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Septic arthritis, Hyperactivity, Abnormal e... |
ORPHA:642 |
| Legius Syndrome |
|
Polydactyly, Hyperactivity, Multiple lipomas, Cognitive impairment, Paroxysmal atrial tachycardia... |
ORPHA:137605 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss |
OMIM:608710 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Enamel hypoplasia, Flexion contracture, Cognitive impairment, Subdural hemorr... |
ORPHA:90324 |
| Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Stippled calcification of the shoulder, Oste... |
ORPHA:51608 |
| Rift Valley Fever |
|
Retinal hemorrhage, Abnormal bleeding, Gingival bleeding, Hematemesis, Melena |
ORPHA:319251 |
| Cockayne Syndrome |
|
Retinal hemorrhage, Enamel hypoplasia, Contractures of the large joints, Cognitive impairment, Re... |
ORPHA:191 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Failure to thrive, Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
| Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Chorioretinal scar, Vitreous hemorrhage, Weight loss |
ORPHA:91500 |
| Incontinentia Pigmenti |
|
Retinal hemorrhage, Scarring |
OMIM:308300 |
| Pierson Syndrome |
|
Retinal hemorrhage, Hypertension |
OMIM:609049 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Corneal neovascularization |
OMIM:175780 |
