| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis, Hypertension, Complete duplication of the dis... |
ORPHA:1879 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis, Increased bone mineral density, Failure to thrive, Metaphyseal dysplasia, D... |
OMIM:615198 |
| Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... |
ORPHA:166119 |
| Sclerosteosis |
|
Diaphyseal undertubulation, Tall stature, Abnormal cortical bone morphology, Craniofacial hyperos... |
ORPHA:3152 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t... |
ORPHA:564003 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Connective tissue nevi, Osteopoikilosis |
OMIM:166700 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Mueller-Weiss Syndrome |
|
Fragmented, irregular epiphyses, Abnormality of the os naviculare pedis, Knee osteoarthritis, Art... |
ORPHA:566943 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Immune Thrombocytopenia |
|
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... |
ORPHA:3002 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u... |
ORPHA:3416 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... |
OMIM:166740 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Melorheostosis |
|
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, F... |
ORPHA:2485 |
| Smith-Magenis syndrome |
|
Hyperactivity, Brachydactyly, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... |
ORPHA:90650 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Fraxe Intellectual Disability |
|
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Compulsive beh... |
ORPHA:100973 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... |
OMIM:241520 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Bilateral coxa valga, Hypertrophic cardiomyopathy, Obesity, Aggressive behavior |
OMIM:620270 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Diastrophic Dysplasia |
|
Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo... |
ORPHA:628 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Purpura, Pulmonary embolism |
OMIM:612304 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... |
ORPHA:93284 |
| Pseudohypoparathyroidism Type 1B |
|
Irritability, Hypocalcemic seizures, Prolonged QT interval, Diaphyseal sclerosis, Hypocalcemia, I... |
ORPHA:94089 |
| Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Micromelia, Limb undergrowth, Generalized osteosclerosis |
ORPHA:1423 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex... |
OMIM:607634 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Increa... |
OMIM:614856 |
| Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Erlenmeyer flask de... |
ORPHA:210110 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... |
OMIM:600785 |
| Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Flared metaphysis, Squared iliac bones, Micromelia, Advanced tarsal ossification, Gen... |
OMIM:215045 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal metaphysis morphology, Genu valgum, Abnormal metacarpal morphology, Generalized osteoscl... |
ORPHA:53 |
| Pandas |
|
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal bleeding, Epidural hemorrhage, Abnormal femur morphology, F... |
ORPHA:464329 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Small for gestational age |
ORPHA:90050 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... |
ORPHA:2502 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Pathologic fract... |
OMIM:620366 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... |
OMIM:166600 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Osteolysis involving bones o... |
ORPHA:464321 |
| Autoimmune Hypoparathyroidism |
|
Irritability, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Increased bone mineral ... |
ORPHA:36913 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Bowing of the long ... |
OMIM:239000 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Short metacarpal, Short 4th metacarpal, Irritability, Hypocalcemia, Increa... |
ORPHA:79444 |
| Glycine Encephalopathy 1 |
|
Irritability, Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior |
OMIM:605899 |
| Chromosome 3Q29 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Hyperactivity, Tapered finger, Failure to thrive, Long fingers, M... |
OMIM:609425 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Flared metaphysis, Hypocalcemia, Increas... |
OMIM:259700 |
| X-Linked Hypophosphatemia |
|
Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,... |
ORPHA:89936 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Abnormal femoral neck/head morphology, Increased bone mineral density... |
ORPHA:163649 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
| Morm Syndrome |
|
Hyperactivity, Truncal obesity, Aggressive behavior |
ORPHA:75858 |
| Ck Syndrome |
|
Irritability, Abnormal cortical bone morphology, Hyperactivity, Abnormal digit morphology, Slende... |
OMIM:300831 |
| Pseudohypoparathyroidism Type 1A |
|
Reduced bone mineral density, Prolonged QT interval, Hypertension, Short metacarpal, Short 4th me... |
ORPHA:79443 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... |
OMIM:144750 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... |
ORPHA:99827 |
| Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage, Osteopenia |
OMIM:601813 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... |
ORPHA:85184 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Hyperactivity, ... |
ORPHA:3077 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Purpura, Stiff neck, Elevated circulating C-reactive protein concentration, Bradycar... |
ORPHA:319213 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... |
OMIM:250220 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P... |
OMIM:112250 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hematemesis, Agitation, Melena, Petechiae, Capillary leak, Hypertension, Decreased ... |
ORPHA:340 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Osteopetrosis, Recurrent fractures, Increased bone mineral density |
OMIM:611490 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Vasculitis, Arthritis |
ORPHA:37748 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
| Marburg Hemorrhagic Fever |
|
Prolonged prothrombin time, Bradycardia, Hyperammonemia, Pericarditis, Elevated circulating creat... |
ORPHA:99826 |
| Dysosteosclerosis |
|
Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral density, Abnorm... |
ORPHA:1782 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... |
ORPHA:3344 |
| Werner Syndrome |
|
Rocker bottom foot, Congestive heart failure, Lipoatrophy, Chondrocalcinosis, Increased bone mine... |
ORPHA:902 |
| Phenylketonuria |
|
Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Attention d... |
OMIM:261600 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased bone mineral density, Small for gestational age, Coxa valga, Coronal craniosynostosis |
OMIM:616943 |
| Majeed Syndrome |
|
Increased bone mineral density, Cachexia, Synovitis, Failure to thrive, Flexion contracture, Weig... |
ORPHA:77297 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... |
ORPHA:93356 |
| Dysosteosclerosis |
|
Osteopenia, Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation,... |
OMIM:224300 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Cachexia, Abnormally ossified vertebrae, Wrist flexion contracture, J... |
ORPHA:800 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Short finger, Clinodactyly of the 5th finger, Hyperactivity, Depression, 2-3 toe syndactyly, Comp... |
OMIM:619467 |
| Fibular Hemimelia |
|
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... |
ORPHA:93323 |
| Camurati-Engelmann Disease |
|
Genu valgum, Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bo... |
OMIM:131300 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... |
ORPHA:240 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Hyperactivity, Short metacarpal, Stereotypical hand wringing, Short fourth ... |
OMIM:600430 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Obesity, Cone-shaped epiphyses of the toes, ... |
ORPHA:397973 |
| Pycnodysostosis |
|
Short finger, Rhizomelia, Increased bone mineral density, Hypoplastic iliac wing, Osteolytic defe... |
ORPHA:763 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Facial ... |
OMIM:620141 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Vasculitis, Vasculitis in the skin, Failur... |
OMIM:617718 |
| Dysostosis, Stanescu Type |
|
Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology... |
ORPHA:1798 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Enamel hypomineralization, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped... |
OMIM:307800 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight, Clinodactyly of the 5th finger |
OMIM:617306 |
| Lethal Congenital Contracture Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Retinal hemorrhage, Congenital contracture, F... |
OMIM:615368 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Hyperactivity, Short metacarpal, Short phalanx of finger, Obesity, Brachydactyl... |
OMIM:614613 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Abnormal metaphysis morphology, Osteopetrosis, Increased bone mineral density, Large iliac wing, ... |
ORPHA:2780 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Finger clinodactyly, Enamel hypomineralization |
ORPHA:3352 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Vitreous hemorrhage, Reduced bone mineral density, Retinal neovasculariza... |
ORPHA:891 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Inappropriate laughter, Increased skull ossifi... |
OMIM:618476 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... |
ORPHA:90652 |
| Craniometaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Caffey Disease |
|
Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio... |
OMIM:114000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Osteopetrosis, Hip subluxation, Stillbirth, Irritability, Flared metaphysis... |
OMIM:259720 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization |
OMIM:193235 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Genu valgum, Diaphyseal sclerosis, Recurrent fractures, Decr... |
OMIM:259710 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia |
OMIM:617182 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Arachnodactyly, Slender build, Motor s... |
OMIM:617600 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph... |
ORPHA:2658 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Inguinal hernia, Long fibula |
ORPHA:935 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... |
OMIM:300554 |
| Poems Syndrome |
|
Metaphyseal sclerosis, Clubbing of fingers, Sclerosis of hand bone, Pulmonary arterial hypertensi... |
ORPHA:2905 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Abnormality of the medullary cavity of the long bones, Hypocalcemia, ... |
OMIM:127000 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Clinodactyly of the 5th finger, Hyperactivity, Osteoporosis, Failure to thrive, Clinodactyly, Neo... |
ORPHA:73272 |
| Erdheim-Chester Disease |
|
Polydipsia, Congestive heart failure, Abnormal metaphysis morphology, Increased bone mineral dens... |
ORPHA:35687 |
| Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization, Recurrent fractures |
OMIM:133780 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Meta... |
ORPHA:93317 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short finger, Hip subluxation, Epiphyseal stippling, Flared metaphysis, Triangular shaped distal ... |
OMIM:271665 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Retinal hemorrha... |
OMIM:611773 |
| Blomstrand Lethal Chondrodysplasia |
|
Rhizomelia, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Short metacar... |
ORPHA:50945 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Abnormal bleeding, Osteopetrosis, Epistaxis |
OMIM:612840 |
| Raine Syndrome |
|
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Micromeli... |
OMIM:259775 |
| Eales Disease |
|
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit... |
ORPHA:40923 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Short long bone, L... |
ORPHA:239 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Purpura, Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Hypertension, Osteoporo... |
OMIM:219090 |
| Leptospirosis |
|
Anorexia, Hypotension, Retinal hemorrhage, Pericarditis, Arrhythmia, Subconjunctival hemorrhage, ... |
ORPHA:509 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Clinodactyly of the 5th finger, Decreased body weight, Osteopenia |
OMIM:608747 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Increased bo... |
OMIM:119600 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... |
OMIM:610442 |
| 13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Failure to thrive, Obesity, Hip dy... |
ORPHA:412035 |
| Gaucher Disease |
|
Osteopenia, Decreased HDL cholesterol concentration, Abnormal bleeding, Elevated circulating C-re... |
ORPHA:355 |
| Graves Disease |
|
Congestive heart failure, Irritability, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Mucopolysaccharidosis, Type Iiia |
|
Dense calvaria, Inguinal hernia, Hyperactivity, Asymmetric septal hypertrophy, Joint stiffness, U... |
OMIM:252900 |
| Desmosterolosis |
|
Osteopetrosis, Increased bone mineral density, Micromelia, Metatarsus adductus, Failure to thrive |
ORPHA:35107 |
| Atelis Syndrome 2 |
|
Vitreous hemorrhage, Supravalvar pulmonary stenosis, Pulmonic stenosis, Attention deficit hyperac... |
OMIM:620185 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Short palm, Hyperphosphatemia, Short ... |
OMIM:241410 |
| Pycnodysostosis |
|
Increased bone mineral density, Narrow iliac wing, Osteolytic defects of the distal phalanges of ... |
OMIM:265800 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Tall stature, Hyperactivity, Hyperextensibility of the finger joints, Low frustration tolerance, ... |
OMIM:309520 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Irritability, Joint hypermobility, Hyperactivity, Depression, Hypertens... |
ORPHA:449291 |
| Desmosterolosis |
|
Elevated circulating desmosterol concentration, Rhizomelia, Abnormal circulating cholesterol conc... |
OMIM:602398 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Clubbing, Cardiomyopathy, Absence of subcutaneous fat... |
ORPHA:33364 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Rocker bottom foot, Lipoatrophy, Reduced bone mineral density, Hypertension... |
ORPHA:79474 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Decreased body mass ... |
ORPHA:247585 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hammertoe, Tracheomalacia, Decreased body weight, Tricuspid regurgitation, Retinal hemorrhage, Ce... |
OMIM:620371 |
| Retinoblastoma |
|
Hyphema, Subretinal pigment epithelium hemorrhage, Cellulitis, Vitreous hemorrhage |
ORPHA:790 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Inguinal hernia, Slender long bone, Femoral retroversion, Femoral bowing, Tibial bowi... |
OMIM:610915 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, An... |
ORPHA:100924 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
| 12Q14 Microdeletion Syndrome |
|
Failure to thrive, Clinodactyly of the 5th finger, Osteopoikilosis |
ORPHA:94063 |
| Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Cephalohematoma, Flared metaphysis, Increased bone mineral density, Coarse metaphyseal trabecular... |
OMIM:620558 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Hyperoxaluria, Intermittent claudication, Ra... |
OMIM:259900 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia, Short ... |
ORPHA:2323 |
| Incontinentia Pigmenti |
|
Congestive heart failure, Finger syndactyly, Abnormal dental enamel morphology, Abnormal hand mor... |
ORPHA:464 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypertension, Cerebral ischemia, Pulmonic stenosis, Joi... |
ORPHA:904 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Abnormal circulating albumin concentration, Abnormal circulating protein conce... |
ORPHA:86839 |
| Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Abnormal subcutaneous fat tissue distribution, Inguinal hernia, Subretinal pigment epithelium hem... |
ORPHA:357074 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... |
ORPHA:758 |
| Primary Hyperoxaluria |
|
Heart block, Hyperoxaluria, Cardiomyopathy, Failure to thrive, Intermittent claudication, Raynaud... |
ORPHA:416 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Craniosynostosis, Hy... |
ORPHA:667 |
| Pseudoxanthoma Elasticum |
|
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... |
OMIM:264800 |
| Sclerosteosis 1 |
|
Overgrowth, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tu... |
OMIM:269500 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Adducted thumb, Genu valgum, Right unicoronal synostosis, Long toe, Hallux valgus, Calcaneovalgus... |
ORPHA:261552 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Hyperactivity, Emotional lability, Autoamputa... |
OMIM:256800 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Waldenström Macroglobulinemia |
|
Anorexia, Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gingival bl... |
ORPHA:33226 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Increased susceptibility to fractures, Pulmonary arterial hyperte... |
ORPHA:77261 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Hand clenching, Flexion contract... |
OMIM:614653 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin... |
OMIM:192315 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Fetal Cytomegalovirus Syndrome |
|
Petechiae, Retinal hemorrhage, Conjugated hyperbilirubinemia |
ORPHA:294 |
| Idiopathic Aplastic Anemia |
|
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage |
ORPHA:88 |
| Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures, Femur fracture |
OMIM:612301 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage |
OMIM:177850 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing, Postaxial hand polydactyly, ... |
OMIM:269150 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anorexia, Elevated circulating C-reactive protein concentration, Chorioretinal scar, Weight loss,... |
ORPHA:91500 |
| Rift Valley Fever |
|
Anorexia, Hematemesis, Abnormal bleeding, Melena, Gingival bleeding, Retinal hemorrhage |
ORPHA:319251 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Intraretinal hemorrhage |
ORPHA:411527 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Dysphagia, Retinal hemorrhage |
ORPHA:25 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad distal phalanx of finger, Abnormal fear-induced behavior, Abnormal proximal phalanx morphol... |
ORPHA:353281 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Hypocalcemia, Elevated circulating creatine kinase concentration, Pulmonary arteri... |
ORPHA:2785 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalaninemia, Abnormal circu... |
OMIM:612716 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Weight loss |
OMIM:608710 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Impulsivity, Pulmonic st... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Impulsivity, Pulmonic st... |
ORPHA:353277 |
| Trichinellosis |
|
Irritability, Dysphagia, Retinal hemorrhage |
ORPHA:863 |
| Generalized Arterial Calcification Of Infancy |
|
Irritability, Left ventricular systolic dysfunction, Hypophosphatemic rickets, Fused cervical ver... |
ORPHA:51608 |
| Cockayne Syndrome |
|
Hyperuricemia, Cachexia, Hypertension, Retinal hemorrhage, Congenital contracture, Reduced subcut... |
ORPHA:191 |
| Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Cockayne Syndrome Type 3 |
|
Increased blood pressure, Cardiomyopathy, Retinal hemorrhage, Enamel hypoplasia, Flexion contract... |
ORPHA:90324 |
| Incontinentia Pigmenti |
|
Scarring, Retinal hemorrhage |
OMIM:308300 |
| Pierson Syndrome |
|
Hypoproteinemia, Hypertension, Retinal hemorrhage |
OMIM:609049 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Elevated circulating creatine kinase concentration, ... |
OMIM:175780 |
| Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |
