Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
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 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... |
ORPHA:457050 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Creatine Phosphokinase, Elevated Serum |
|
Increased muscle fatiguability, Elevated circulating creatine kinase concentration, Abnormal musc... |
OMIM:123320 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... |
ORPHA:3416 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency, Pedal edema |
ORPHA:75325 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Facial palsy, Elevated circulating creatine kinase concentration, Decreased activity of mitochond... |
OMIM:616209 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:620235 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness |
OMIM:166700 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip... |
OMIM:619795 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal pelvis bone morph... |
ORPHA:73 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... |
OMIM:614321 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... |
ORPHA:53697 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu... |
OMIM:608423 |
Myopathy, Centronuclear, 4 |
|
Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... |
OMIM:614807 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosi... |
ORPHA:2790 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... |
OMIM:259710 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
Adenosine Monophosphate Deaminase Deficiency |
|
Elevated creatine kinase after exercise, Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im... |
ORPHA:71267 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow... |
OMIM:277440 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow... |
OMIM:264700 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hyporeflexia of lo... |
OMIM:615632 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Psoriasiform dermatitis, Acne, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... |
OMIM:301014 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Increased muscle fatiguability, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Recurrent fractures, Abnormal pe... |
OMIM:610967 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Welander Distal Myopathy |
|
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density, Taurodontia |
OMIM:190320 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1-containing inclu... |
OMIM:616231 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c... |
OMIM:241530 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... |
OMIM:611705 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Decre... |
OMIM:500002 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Ca... |
OMIM:259700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, ... |
ORPHA:289157 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... |
OMIM:618848 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... |
OMIM:136300 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Bone pain, Hyperostosis, A... |
ORPHA:2485 |
Mycetoma |
|
Abnormality of the knee, Recurrent bacterial skin infections, Osteomyelitis, Structural foot defo... |
ORPHA:2583 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... |
ORPHA:2204 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Abnormal muscle fiber morphology, Exercise-induced muscle fatigue, Increase... |
ORPHA:681 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Exe... |
ORPHA:2364 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... |
ORPHA:3035 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... |
OMIM:617974 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Mildly elevated creatine kinase, Fiber type grouping |
OMIM:614369 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long... |
ORPHA:1423 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion contracture, Increased variab... |
OMIM:618484 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... |
OMIM:607634 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... |
OMIM:609524 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... |
ORPHA:86812 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati... |
OMIM:156550 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... |
OMIM:617072 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va... |
OMIM:608940 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica... |
OMIM:259440 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteri... |
ORPHA:166272 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... |
ORPHA:289176 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne... |
OMIM:181400 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620138 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... |
ORPHA:1427 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Periostitis, Osteomyelitis |
ORPHA:2218 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I... |
OMIM:619024 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Congen... |
ORPHA:77297 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Autoamputation of digits, Osteomyelitis, Osteolytic defects of the phalanges of the hand |
OMIM:613115 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... |
OMIM:122860 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Distal amyotroph... |
OMIM:609200 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t... |
ORPHA:85184 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M... |
OMIM:619518 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... |
OMIM:618363 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... |
OMIM:144750 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein conce... |
OMIM:612852 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration |
OMIM:609500 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... |
OMIM:231070 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club... |
ORPHA:1525 |
Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il... |
OMIM:215045 |
Hereditary Continuous Muscle Fiber Activity |
|
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... |
ORPHA:972 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Sapho Syndrome |
|
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
Shox-Related Short Stature |
|
Micrognathia, Genu valgum, Skeletal muscle hypertrophy, Short foot, Tibial bowing, High palate, F... |
ORPHA:314795 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... |
OMIM:223800 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... |
ORPHA:251028 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice... |
OMIM:232800 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus... |
ORPHA:486815 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Mi... |
ORPHA:628 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Thin long bone diaphyses... |
OMIM:616507 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos... |
ORPHA:2314 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobility, Osteoporo... |
ORPHA:2796 |
Schnitzler Syndrome |
|
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Bone pain, Arthritis, Incr... |
ORPHA:37748 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Increased muscle fatiguability, Weakness of facial musculature, Facial palsy |
OMIM:616323 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... |
ORPHA:352470 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:255160 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... |
OMIM:166210 |
Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Limb muscl... |
OMIM:609273 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Micrognathia, Recurrent pneumonia... |
OMIM:618282 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... |
ORPHA:266 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia... |
OMIM:601559 |
Microphthalmia With Limb Anomalies |
|
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... |
OMIM:206920 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability, Elevated circulating N,N-dimethylglycine concentration, Elevated ... |
OMIM:605850 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Elevated circulating creat... |
OMIM:600969 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Keratitis, Talipes equinova... |
ORPHA:453510 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability, Elevated circulating creatine kinase concentration |
ORPHA:243343 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Ck Syndrome |
|
Micrognathia, Retrognathia, Malar flattening, Abnormal cortical bone morphology, Abnormal digit m... |
OMIM:300831 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp... |
OMIM:234250 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Mildly ele... |
ORPHA:401768 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti... |
OMIM:610968 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... |
ORPHA:1782 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Tombstone-shaped ... |
OMIM:108721 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Open bite, Decreased skull ossification, Joint hyperflexi... |
ORPHA:2097 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Abnormal circulating creatine kinase concentrati... |
OMIM:615959 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... |
ORPHA:276435 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ... |
OMIM:166220 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
Glass Syndrome |
|
Dental crowding, Facial hypotonia, Anterior tibial bowing, Conical tooth, Micrognathia, Arachnoda... |
OMIM:612313 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Coxa valga, Cleft palate, Flat acetabular roof, Dow... |
ORPHA:163649 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Increased muscle fatiguability, Myopathy |
OMIM:613077 |
Immunodeficiency 27A |
|
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocy... |
OMIM:209950 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... |
ORPHA:140 |
Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat... |
ORPHA:309169 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... |
ORPHA:99013 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor... |
OMIM:616294 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal... |
OMIM:112240 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Large knee, Delayed er... |
OMIM:619269 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... |
OMIM:617069 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat... |
OMIM:224300 |
Hypophosphatasia, Childhood |
|
Elevated plasma pyrophosphate, Craniosynostosis, Premature loss of primary teeth, Carious teeth, ... |
OMIM:241510 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration, Exercise-induced muscle fatigue |
OMIM:245340 |
King-Denborough Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, B... |
OMIM:619542 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Elevated circulating creatine kinase c... |
OMIM:160500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ... |
OMIM:253601 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:613204 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Myop... |
OMIM:602541 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... |
OMIM:619073 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac... |
ORPHA:93315 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Enamel hypoplasia, B... |
OMIM:612463 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long... |
OMIM:619489 |
Metaphyseal Dysplasia, Spahr Type |
|
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... |
OMIM:250400 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Sinusitis, Transient neutropenia, Aplastic anemia, Metaphyseal cho... |
ORPHA:811 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Pes planus, Short metacarpal, Epiphyseal dysplasia, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:617258 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... |
ORPHA:488650 |
Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Increased bone mineral density, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Cryptorchidi... |
ORPHA:169189 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Brachydactyly, Recurrent fractures, Mic... |
OMIM:601812 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Elevated circulating creatine kinase concentration, Ce... |
OMIM:248800 |
Xp21 Deletion Syndrome |
|
Increased muscle fatiguability, Decreased muscle mass, Hypertriglyceridemia, Elevated circulating... |
ORPHA:261476 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... |
ORPHA:2635 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Hyperbilirubinemia, Exercise-induced muscle fatigue |
ORPHA:713 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Pure Mitochondrial Myopathy |
|
Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyotrophy, Shoulder girdl... |
ORPHA:254854 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ... |
ORPHA:1486 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co... |
OMIM:609560 |
Myopathy, Distal, 3 |
|
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Ab... |
ORPHA:281 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Mildly elevated ... |
ORPHA:399086 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV... |
OMIM:300816 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con... |
OMIM:620386 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Facial palsy, Micrognathia, High, narr... |
ORPHA:2780 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... |
OMIM:118651 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... |
ORPHA:1106 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... |
OMIM:131300 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... |
ORPHA:33110 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... |
ORPHA:47 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Dental crowding, Facial palsy, Metaphyseal widening, Cranial hyperostosis,... |
OMIM:123000 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Abnor... |
ORPHA:171445 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Tibial bowing, Hypocal... |
ORPHA:175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Palmoplantar pustulosis, Osteomyelitis, Bone pain |
OMIM:259680 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue |
ORPHA:369847 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Calcinosis, Hypo... |
ORPHA:2909 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Pes pla... |
OMIM:309350 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic... |
ORPHA:83468 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho... |
OMIM:143095 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... |
OMIM:603511 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra... |
ORPHA:1878 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutane... |
OMIM:103580 |
Stormorken Syndrome |
|
Increased muscle fatiguability, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:185070 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... |
ORPHA:2741 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Short 4th ... |
OMIM:619638 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... |
OMIM:300717 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... |
ORPHA:169186 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... |
OMIM:300718 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, Increased... |
ORPHA:443811 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, El... |
ORPHA:26791 |
Neuropathy, Hereditary Sensory, Type Id |
|
Autoamputation of digits, Osteomyelitis, Pes cavus |
OMIM:613708 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... |
OMIM:616924 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... |
OMIM:611615 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Facial palsy, Ragge... |
OMIM:500009 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... |
OMIM:617952 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:616052 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc... |
OMIM:612937 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox... |
ORPHA:2484 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Subperiosteal bone formation, Hypoplasia of the ovary, Osteoscle... |
OMIM:609993 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... |
ORPHA:536467 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Short metacarpal, Radial bowing,... |
OMIM:108720 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Distal amyotroph... |
ORPHA:98911 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Ragged-red muscle fibers, Decreased activity of mitochondrial complex I... |
OMIM:616794 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio... |
OMIM:300559 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Hyperalaninemia, Increased muscle fatiguability, M... |
OMIM:618250 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Elevated circulating creatine kinase concentration, ... |
OMIM:615368 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
Familial Hyperprolactinemia |
|
Osteopenia, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci... |
OMIM:176920 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Cortical subperiosteal res... |
ORPHA:94089 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Hyperphosphatemia, H... |
OMIM:612462 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kin... |
ORPHA:263494 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Bone pai... |
ORPHA:35687 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:610542 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ... |
OMIM:617070 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Calcinosis, Sh... |
ORPHA:221008 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
48,Xyyy Syndrome |
|
Pes planus, Acne, Abnormal foot morphology, Thick lower lip vermilion, Irregularly spaced teeth, ... |
ORPHA:99329 |
Myopathy, Myofibrillar, 2 |
|
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... |
OMIM:608810 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ... |
ORPHA:75840 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
Immunodeficiency 27B |
|
Osteomyelitis, Salmonella osteomyelitis |
OMIM:615978 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, D... |
ORPHA:2410 |
Fanconi-Like Syndrome |
|
Pancytopenia, Osteomyelitis |
OMIM:227850 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Central Core Disease |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Myopathy, Abnorm... |
ORPHA:597 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Sternocleidomastoid amyotrophy, Thenar mu... |
OMIM:256030 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, C... |
ORPHA:221016 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... |
OMIM:609452 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Br... |
ORPHA:1163 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:619566 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Short metacarpal, Short fi... |
ORPHA:79444 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Micromelia, Bowing of the legs,... |
OMIM:610682 |
Endove Syndrome, Limb-Brain Type |
|
Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Triangular tibia, Talar a... |
OMIM:619218 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu... |
OMIM:253250 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased endomys... |
OMIM:620265 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Elevated circulating creatine kinase concent... |
OMIM:255800 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing |
OMIM:126550 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ... |
OMIM:167320 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Ragged-red mu... |
ORPHA:352447 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Pes planus, Foot osteomyelitis, Absent Achilles reflex, Hammertoe, Distal lower limb muscle weakn... |
OMIM:600882 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Pes cavus, Autoamputation of foot |
OMIM:162400 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Bowing of the long bones, Mic... |
OMIM:259775 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Eleva... |
OMIM:607855 |
Immunodeficiency 31C |
|
Osteopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Osteomyeliti... |
OMIM:614162 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon... |
ORPHA:50945 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra... |
ORPHA:666 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Micromelia, ... |
OMIM:612651 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... |
OMIM:619790 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... |
ORPHA:1972 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T... |
OMIM:619574 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Blount Disease, Adolescent |
|
Genu varum, Osteochondritis dissecans, Bowing of the legs |
OMIM:259200 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... |
ORPHA:249 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut... |
OMIM:203550 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
DECIPHER:39 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:613157 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... |
ORPHA:355 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia... |
OMIM:226650 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca... |
OMIM:269300 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivi... |
ORPHA:36913 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Bone pain, Iron deficiency anemia, Hypocalcemia, Hypop... |
ORPHA:89937 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Abnormality of the dentition, Micrognat... |
ORPHA:2323 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Micromelia, Microgna... |
ORPHA:800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers, Decreased activity of mitochondrial complex III |
OMIM:615159 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Delayed skeletal maturation, S... |
ORPHA:93324 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... |
ORPHA:37042 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG level, Morbil... |
ORPHA:228123 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Osteomyelitis |
OMIM:239840 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes... |
ORPHA:352479 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo... |
ORPHA:93351 |
Osteogenesis Imperfecta, Type Xxi |
|
Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Pes val... |
OMIM:619131 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosi... |
ORPHA:1299 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany... |
ORPHA:79443 |
Nail-Patella Syndrome |
|
Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology,... |
ORPHA:2614 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Cryptorchidism, Small ... |
OMIM:241410 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short palm, Short metacarpal, Dental crowding, Avascular ne... |
OMIM:190351 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Decreased activity of mitochondrial complex I, Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Keratitis, Motheaten muscle fibers, Palmoplantar hyperkeratosis, Muscular dystroph... |
OMIM:226670 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo... |
OMIM:259720 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... |
OMIM:259770 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os... |
ORPHA:565 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Abnormal mitochondrial morphology |
ORPHA:275872 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Hepatospleno... |
OMIM:612840 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... |
OMIM:619423 |
Senior-Loken Syndrome |
|
Cone-shaped epiphysis, Premature ovarian insufficiency, Abnormality of bone mineral density |
ORPHA:3156 |
Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability, Hypokalemia |
OMIM:611489 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta, Palmoplantar cutis laxa |
OMIM:229200 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... |
OMIM:300219 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:353 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Rhabdomyolysi... |
ORPHA:79102 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... |
OMIM:620249 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Hyperpho... |
OMIM:211900 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumonia, Anemia, D... |
OMIM:612301 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Limb pain, Pathologic fracture, Osteomyelitis |
ORPHA:36386 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... |
ORPHA:668 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... |
OMIM:615578 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Osteomyelitis |
OMIM:614116 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Septic art... |
ORPHA:449280 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyly of finger, Increa... |
OMIM:614399 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Miyoshi Muscular Dystrophy 3 |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ... |
OMIM:613319 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... |
OMIM:259730 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ... |
OMIM:620099 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Osteomyelitis, Myositis, Maculopapular exanthema, Pneumonia,... |
ORPHA:228119 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Genu valgum, Decreased testicular size |
OMIM:614880 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Calf... |
OMIM:611307 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:2141 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape... |
OMIM:611174 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Bone pain, Ost... |
OMIM:602080 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Pustule, Hyperkalemia, Atopic dermatitis, Increased circulating reni... |
ORPHA:171876 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentration... |
ORPHA:157215 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase |
ORPHA:663 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Cryptococcosis |
|
Osteomyelitis, Lymphoid leukemia, Pneumonia, Peritonitis, Osteolysis, Prostatitis |
ORPHA:1546 |
Desmosterolosis |
|
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Patent du... |
ORPHA:35107 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, Upper l... |
ORPHA:263297 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Bone pain, Genu valgum, Hyp... |
ORPHA:93160 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fibers, Hyp... |
OMIM:618416 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Generalized w... |
ORPHA:353327 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Osteopoikilosis, Downturned corners of mouth, Thin vermili... |
ORPHA:94063 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Streak ovar... |
ORPHA:798 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi... |
ORPHA:313855 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth... |
OMIM:608654 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract... |
OMIM:146300 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum |
OMIM:613312 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Hyporeflexia of lower limbs, Autoamputation of digits, Osteomyelitis, Distal lower limb muscle we... |
OMIM:613640 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Joint hypermobility, Joint stiffness, Tracheobronchomalacia, Pierre-Robin sequen... |
OMIM:619184 |
Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf... |
ORPHA:90291 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra... |
ORPHA:477774 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Thin upper lip vermilion, Pes planus, Exaggerated cupid's bow, Tapered finger, Cryp... |
OMIM:619293 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:261102 |
Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Patent ductus arteriosus, Gingival fibromat... |
OMIM:602398 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Elevated circulating creatine kinase concentration, Facial palsy, Ragged-red muscle fibers, Decre... |
OMIM:615084 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Pes planus, Dental crowding, Selective tooth agenesis, Abnormal finger flexion c... |
OMIM:210600 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... |
ORPHA:3206 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Dental malocclusion, 2-3 fin... |
OMIM:269500 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Osteoma... |
ORPHA:1652 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Metaphysea... |
OMIM:618476 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
OMIM:613327 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia... |
OMIM:212780 |
Werner Syndrome |
|
Skeletal muscle atrophy, Increased bone mineral density, Rocker bottom foot, Joint stiffness, Ost... |
ORPHA:902 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... |
ORPHA:2710 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology |
OMIM:300438 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia |
OMIM:619063 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... |
OMIM:613561 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Rhizomelia, Wide anterior fontanel, Irregular menstruation, Tibial bowing, Femoral... |
OMIM:616482 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:171719 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hypercalcemia, Abnormality of the dentition, Clinodactyly, Oligodontia, Sh... |
ORPHA:557003 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Atopic dermatitis, Hypochromic microcytic anemia, O... |
ORPHA:3240 |
Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, EMG: myopathic abnormalitie... |
ORPHA:57 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler... |
ORPHA:2905 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
Seckel Syndrome 5 |
|
Pes planus, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, Hi... |
OMIM:613823 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614100 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
Kenny-Caffey Syndrome, Type 1 |
|
Short palm, Carious teeth, Small hand, Short foot, Slender long bone, Hypocalcemia, Hypomagnesemi... |
OMIM:244460 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal iron deposi... |
OMIM:255125 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Lower limb hypertonia, Abnormal activity of mitochondrial respiratory c... |
OMIM:610246 |
Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... |
ORPHA:33364 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Thrombocytopenia, Delayed skeletal maturation, Sple... |
ORPHA:77261 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Elevated circulatin... |
OMIM:617114 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Wide anterior fontanel, Hyperbilirubinemia, Elevated circulating lo... |
OMIM:614886 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis |
OMIM:618541 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypopl... |
OMIM:612731 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious... |
ORPHA:2552 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Thin bony cortex, Decreased muscl... |
OMIM:309583 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233710 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating c... |
ORPHA:610 |
Scarf Syndrome |
|
Diastasis recti, Craniosynostosis, Cryptorchidism, Joint hyperflexibility, Short sternum, Long ph... |
ORPHA:3134 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5 finger syndactyly, Hi... |
OMIM:164200 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno... |
OMIM:601163 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler... |
OMIM:617994 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short metacarpal, Overlapping to... |
OMIM:616723 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Tubulointerstitial nephritis, High palate, Widely spaced teeth, Hypocalcemia... |
OMIM:218330 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Eczema, Micrognathia, Cryptorchidism, Oral ulc... |
OMIM:617052 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233690 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema... |
ORPHA:667 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou... |
ORPHA:582 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta... |
ORPHA:93352 |
Listeriosis |
|
Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv... |
ORPHA:533 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Flexion contracture of finger, Osteomyelitis, Camptodactyly |
ORPHA:88628 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79405 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Thrombocytopenia, S... |
ORPHA:781 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity... |
OMIM:249420 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Osteoporosis, Rickets, Thyroiditis, Recurrent aphthous stomatitis, Hypocalcemia, Infertil... |
OMIM:212750 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Joint laxity, Syndactyly, Microgn... |
OMIM:151050 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir... |
ORPHA:119 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Hepatitis, Palmoplantar hyperkeratosis, Thick vermilion border, Enamel hypoplasia |
ORPHA:363523 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79406 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra... |
OMIM:613662 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia |
OMIM:226700 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Abnormality of the mitochondrion |
ORPHA:91130 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Mitochondrial swelling |
OMIM:615595 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Everted lower lip vermilion, Thick... |
OMIM:619980 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:98855 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic mucoc... |
OMIM:116920 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Thin vermilion border, Macroorchidism, Malar flattening, Ename... |
ORPHA:139474 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased ... |
ORPHA:178148 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis |
OMIM:615328 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis |
ORPHA:139578 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Abnorm... |
ORPHA:2563 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Cryptorchidism, Flexion contracture, Uv... |
ORPHA:90322 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Decreased activity of mitochondrial complex II, Le... |
OMIM:252011 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Flexion contr... |
OMIM:254090 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Acrocallosal Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb |
ORPHA:36 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Congenital diaphragmatic hernia |
OMIM:615524 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79411 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Cryptor... |
OMIM:175700 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Skin rash, Allergic rhinitis, Carious teeth, Calvarial hyperostosis |
OMIM:612714 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Hand muscle w... |
ORPHA:254886 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Bone pain, Pathologic fracture |
OMIM:259900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:306400 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... |
ORPHA:2919 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Thin bony co... |
OMIM:230600 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Short humerus, Abnormal mitochondrial shape, Sho... |
ORPHA:17 |
Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Patent ductus arteriosus, Narrow pa... |
OMIM:277600 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia, Abnormal thumb morphology, Metatarsus adductus, Spina... |
ORPHA:500095 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... |
OMIM:166300 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... |
ORPHA:1328 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... |
ORPHA:399096 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Swelling of proximal int... |
ORPHA:69087 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Palmoplantar keratoderma, Oral mucosal blisters |
ORPHA:79402 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, I... |
OMIM:241500 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Mitten deformity, Enamel... |
ORPHA:251393 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Postaxial polydactyly, Patent ductus arterios... |
OMIM:614576 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm |
OMIM:612650 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:98853 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Autoamputation of digits, Osteomyelitis |
OMIM:256800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Dental crowding, Down-sloping shoulders, Micrognathia, Joint stiffness, C... |
OMIM:248370 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Barth Syndrome |
|
Talipes equinovarus, Skeletal myopathy, Abnormal mitochondrial morphology |
OMIM:302060 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Reduced bone mineral density, Fing... |
ORPHA:79474 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Wrist ... |
ORPHA:1826 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Exercise-induced muscle fatigue |
ORPHA:1330 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... |
ORPHA:83 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... |
OMIM:618727 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:309000 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Decreased activity o... |
OMIM:616239 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:620240 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis, Bone pain, Abnormal dental pulp m... |
ORPHA:416 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm |
OMIM:242670 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Scarf Syndrome |
|
Diastasis recti, Cryptorchidism, Short sternum, Lambdoidal craniosynostosis, Long philtrum, Coron... |
OMIM:312830 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Abnormality of the dentition, Car... |
ORPHA:93 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthritis, Inflammation of the... |
ORPHA:29207 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Eczema, Allergic rhinitis, Patent ductus arteriosus, 2-3 toe synda... |
OMIM:618162 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Exercise-induced muscle fatigue, Increased blood u... |
ORPHA:230 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Short Stature-Micrognathia Syndrome |
|
Joint laxity, Rhizomelia, Micrognathia, Bowing of the legs, Coxa valga, Metaphyseal widening, Cry... |
OMIM:617164 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Reduced sperm motility |
OMIM:615500 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficien... |
OMIM:129400 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Micrognathia, Tarsal sy... |
ORPHA:2756 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... |
ORPHA:324604 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:1166 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Patent ductus art... |
OMIM:608328 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Keratitis, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Enamel hypoplas... |
OMIM:612843 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Micrognath... |
ORPHA:2785 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility |
OMIM:612649 |
Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... |
ORPHA:91 |
Dystonia-Aphonia Syndrome |
|
Macroglossia, Abnormal mitochondrial shape |
ORPHA:412217 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Micrognathia, Dental malocclusion, Localized hypoplas... |
ORPHA:73223 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Ragged... |
OMIM:258450 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Ab... |
OMIM:256840 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri... |
ORPHA:93325 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... |
ORPHA:31202 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P... |
ORPHA:31204 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Absent frontal sinuses, Cryptorchidism, Patent ductus art... |
OMIM:102500 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Bowing of the legs, Secondary amenorrhea, Lower limb undergrowth, Brachydactyly |
OMIM:612847 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Scapular winging, Short metacarpal, Block vertebrae, Tarsal synostosis, Bowed h... |
OMIM:272460 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Glomerulonephritis, Recurrent skin in... |
ORPHA:79408 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Abnormal foot morphology, Taurodontia, High palate, Widely spaced teeth, Enamel hyp... |
OMIM:618205 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Delayed skeletal maturation, Small hand, Spina bifida occulta, Short foot, Retrognath... |
ORPHA:488434 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly... |
ORPHA:935 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Congenital diaphragmatic hernia |
OMIM:300887 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... |
ORPHA:90321 |
Scleroderma, Familial Progressive |
|
Calcinosis, Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Abnormal circulating creatine kinase concentration, Limb-girdle muscular dystrophy, Mus... |
ORPHA:369840 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1520 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Microdontia, Clinod... |
ORPHA:904 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Recurrent skin infections, Craniosynostosis, Oral mucosal blisters,... |
ORPHA:79396 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Increased circulating ferritin concentration, Decreased activity of mitochondri... |
OMIM:600462 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Flexion contracture, Humeroradial synostosis, F... |
OMIM:207410 |
Spondyloocular Syndrome |
|
Osteopenia, Pes planus, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Unilateral cry... |
OMIM:605822 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Abn... |
OMIM:200600 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79409 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Micrognathia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism,... |
ORPHA:1865 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Sandal gap, Joint hypermobility, Carious teeth, Small hand, 2-3 toe sy... |
OMIM:619229 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,... |
OMIM:100800 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79410 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Painless fractures due to injury, Abnormality of lower limb jo... |
ORPHA:642 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Enamel hypoplasia, Elevated maternal serum alpha-fetoprotein,... |
OMIM:226730 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Broad femoral neck, Thick lower lip vermilion, Broad ischia, D... |
OMIM:619727 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of... |
OMIM:271665 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Tapered finger, Small hand, 2-3 toe syndactyly, Macroorchidism |
ORPHA:284180 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm |
OMIM:613808 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Congenital diaphragmatic hernia, Cryptorchidism, Broad thumb, Brachyda... |
OMIM:300978 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly... |
OMIM:258860 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Macroorchidism, Malar flat... |
OMIM:618874 |
Schisis Association |
|
Congenital diaphragmatic hernia, Micromelia |
ORPHA:63862 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy |
ORPHA:31 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Osteomyelitis, Genu valgum, Talipes equinovarus, Hyperbilirubinemia, Otitis media, ... |
OMIM:619475 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Delayed eruption of primary teeth, Carious teeth, Cryptor... |
OMIM:216400 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Painless fractures due to injury, Autoamputation of digits, Osteomyelitis leading to amputation d... |
OMIM:256810 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... |
OMIM:618022 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Inflammation of the large i... |
ORPHA:70591 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Palmoplantar keratoderma, Hypodontia |
OMIM:616029 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Micrognathi... |
ORPHA:56305 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo... |
OMIM:618188 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility |
OMIM:615444 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ... |
OMIM:616866 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th... |
ORPHA:1120 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... |
ORPHA:2751 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp... |
OMIM:620193 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Hypoplas... |
ORPHA:3144 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Conjunctivitis, Narrow mouth, Enamel hypoplasia, Mitt... |
OMIM:226600 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Mus... |
OMIM:182250 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal... |
ORPHA:198 |
13Q12.3 Microdeletion Syndrome |
|
Cryptorchidism, Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Cryptorc... |
ORPHA:94065 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:159400 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... |
ORPHA:2363 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2143 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Abnormal fing... |
ORPHA:79404 |
Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:370079 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morp... |
ORPHA:3068 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Chronic active hepatiti... |
OMIM:240300 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Cryptorchidism, Abnormal fibula morphology, Abnormal femur morphology, Congenital diaphragmatic h... |
ORPHA:2063 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Dental crowding, Micrognathia, Hypoplasia of the ma... |
OMIM:180849 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Metaphyseal widening, Flexion contracture, Congenital diaphragmatic hernia, Ulnar deviation of th... |
OMIM:263210 |
Non-Syndromic Posterior Hypospadias |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:95706 |
Cooper-Jabs Syndrome |
|
Proximal placement of thumb, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alpha-fetoprotein concentration, Decreased activity of mitochondrial complex... |
OMIM:614924 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:139466 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Lower limb amyotrophy, L... |
OMIM:300257 |
Achondroplasia |
|
Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Wide a... |
ORPHA:15 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Talipes equinovarus, Congenital diaphragmatic hernia |
ORPHA:250999 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Zaki Syndrome |
|
Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Patent ductus arteriosus, Ectrodac... |
OMIM:619648 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Cleft lip, Preaxial polyda... |
OMIM:617925 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Abnormality of the dentition, Wide mouth, Enamel hypoplasia, Bifid uvula |
OMIM:615802 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Hypoalbuminemia, Premature loss of teeth, Pes cavus, Enamel hypo... |
OMIM:610965 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Pneumonia, Bowing of the legs, Hypop... |
ORPHA:1855 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Delayed skeletal maturation, Rickets, Reduced bone minera... |
OMIM:613658 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
ORPHA:2847 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomeli... |
OMIM:276820 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of... |
ORPHA:1647 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr... |
OMIM:618733 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptor... |
ORPHA:261344 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia |
OMIM:606164 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, 2-3 finger syndactyly, Clubbing of toes, S... |
ORPHA:2437 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Congenital diaphragmatic hernia, Brachydactyly |
ORPHA:2075 |
Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Myopathy, Hyperbilirubinemia, Increased varia... |
OMIM:611881 |
Intellectual Disability-Strabismus Syndrome |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Cryptorchidism, Achilles tendon contracture,... |
ORPHA:363528 |
Polymyositis |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology |
ORPHA:732 |
Meier-Gorlin Syndrome 7 |
|
Joint laxity, 2-4 finger syndactyly, Craniosynostosis, Sagittal craniosynostosis, Bowing of the l... |
OMIM:617063 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Small hand,... |
ORPHA:1001 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate, Femoral bowing, ... |
OMIM:616462 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized lim... |
ORPHA:98908 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1692 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase... |
OMIM:613154 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... |
OMIM:149730 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Abnormal dental morphology, Delayed eruption of primary teeth, Carious t... |
ORPHA:191 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sclerosing cholangitis, Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Congenital diaphragmatic hernia, Cryptorchidism, 3-4 finger cutaneous syndactyly, Tal... |
OMIM:612530 |
Emanuel Syndrome |
|
Torticollis, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Joint con... |
OMIM:609029 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat... |
OMIM:619503 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Cryptorchidism, Finger syndactyly, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:2311 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1915 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Brachydactyly, Median cleft lip, Hypoplastic scapulae, Hamartoma of tongue, Bowing o... |
OMIM:269860 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Congenital diaphragmatic hernia, Tapered finge... |
ORPHA:251071 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:2470 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Split hand, Hypoplasi... |
ORPHA:958 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Enamel hypoplasia, Psoriasiform dermatitis, Enterocolitis |
OMIM:243150 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... |
ORPHA:330015 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia |
OMIM:615919 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Distal amy... |
OMIM:164310 |
Fumarase Deficiency |
|
Mitochondrial swelling, Decreased fumarate hydratase activity, Hyperbilirubinemia |
OMIM:606812 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Cryptorchidism, Camptodactyly, Clino... |
OMIM:617602 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia, Increased muscle lipid conten... |
ORPHA:565612 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:2409 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Multiple joint contractures, Arachnodactyly, Rocker bottom foot, Congenital diaphragm... |
OMIM:265000 |
Seckel Syndrome 9 |
|
Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:616777 |
Native American Myopathy |
|
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Congenital co... |
ORPHA:168572 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Emanuel Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Multiple joint contractures, Congenital diaphragmatic h... |
ORPHA:96170 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:219100 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Congenital diaphragmatic hernia, Broad d... |
OMIM:245600 |
Axial Mesodermal Dysplasia Spectrum |
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Congenital diaphragmatic hernia |
ORPHA:1834 |
Donnai-Barrow Syndrome |
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Diaphragmatic eventration, Congenital diaphragmatic hernia |
OMIM:222448 |
Vacterl/Vater Association |
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Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Cryptorchidism, Ap... |
ORPHA:887 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Proximal 16P11.2 Microdeletion Syndrome |
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Hand polydactyly, Congenital diaphragmatic hernia |
ORPHA:261197 |
Pentalogy Of Cantrell |
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Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Congenital diaphragmatic... |
ORPHA:1335 |
Halperin-Birk Syndrome |
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Flexion contracture, Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:618651 |
White-Sutton Syndrome |
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Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Broad thumb, Brachyd... |
OMIM:616364 |
Thoracoabdominal Syndrome |
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Patent ductus arteriosus, Congenital diaphragmatic hernia |
OMIM:313850 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Congenital diaphragmatic hernia |
OMIM:611812 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Urinary bladder inflammation, Enamel hypoplasia, Recurrent skin infections, Oral mucosal blisters |
ORPHA:79403 |
Craniofrontonasal Syndrome |
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Toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Cryptorchidism, Clinodactyly of th... |
OMIM:304110 |
Oligomeganephronia |
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Elevated circulating creatinine concentration, Congenital diaphragmatic hernia |
ORPHA:2260 |
Congenital Disorder Of Glycosylation, Type Iim |
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Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
Chromosome 15Q25 Deletion Syndrome |
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Long fingers, Cryptorchidism, Congenital diaphragmatic hernia |
OMIM:614294 |
Focal Dermal Hypoplasia |
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Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Diastasis recti, Congenital diaphragm... |
ORPHA:2092 |
Acrofacial Dysostosis 1, Nager Type |
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Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Co... |
OMIM:154400 |
Thakker-Donnai Syndrome |
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Congenital diaphragmatic hernia |
ORPHA:1780 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Toe syndactyly, Congenital diaphragmatic hernia, Split hand, Elbow flexio... |
OMIM:200980 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Hydrocele testis, Patent ductus arteriosus, Congenital diaphragmatic hernia, Short distal phalanx... |
OMIM:614080 |
Cockayne Syndrome Type 3 |
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Skeletal muscle atrophy, Carious teeth, Flexion contracture, Keratoconjunctivitis sicca, Enamel h... |
ORPHA:90324 |
Fryns Syndrome |
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Clinodactyly of the 5th finger, Cryptorchidism, Congenital diaphragmatic hernia, Short distal pha... |
ORPHA:2059 |
Microphthalmia, Syndromic 9 |
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Patent ductus arteriosus, Cryptorchidism, Diaphragmatic eventration, Congenital diaphragmatic hernia |
OMIM:601186 |
Mycophenolate Mofetil Embryopathy |
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Foot polydactyly, Congenital diaphragmatic hernia, Short palm |
ORPHA:268249 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
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Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Arterial Tortuosity Syndrome |
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Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:208050 |
Perlman Syndrome |
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Cryptorchidism, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
OMIM:267000 |
Denys-Drash Syndrome |
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Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:194080 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Preaxial polydactyly, Congenital diaphragmatic hernia, Micromelia |
OMIM:616546 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, 2-3 toe cutaneous synd... |
OMIM:618454 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Abnormality of Krebs cycle metabolism, Hyperalaninemia, Low plasma citrulline, Ragged-red muscle ... |
ORPHA:255210 |
Aymé-Gripp Syndrome |
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Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Cryptorchidism, Patent ductu... |
ORPHA:1272 |
White-Sutton Syndrome |
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Facial hypotonia, Congenital diaphragmatic hernia |
ORPHA:468678 |
Pallister-Killian Syndrome |
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Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Congenital d... |
OMIM:601803 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Congenital diaph... |
ORPHA:2911 |
Knobloch Syndrome 2 |
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Patent ductus arteriosus, Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Cornelia De Lange Syndrome 1 |
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Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, Cryptorchidism, Hypopla... |
OMIM:122470 |
Trisomy 18 |
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Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Postaxial hand polydact... |
ORPHA:3380 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large hands, Abno... |
ORPHA:97685 |
Meacham Syndrome |
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Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:3097 |
Branchiooculofacial Syndrome |
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Facial palsy, Proximal placement of thumb, Cleft upper lip, Micrognathia, Abnormality of the dent... |
OMIM:113620 |
Distal Deletion 15Q |
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Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, 2-3 toe cutaneous synd... |
ORPHA:1596 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Rhizomelia, Congenital diaphragmatic hernia, Proximal placement of thumb, Cryp... |
ORPHA:818 |
Simpson-Golabi-Behmel Syndrome |
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Finger syndactyly, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:373 |
Iniencephaly |
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Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo... |
ORPHA:63259 |
7Q11.23 Microduplication Syndrome |
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Long fingers, Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:96121 |
Autosomal Dominant Polycystic Kidney Disease |
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Reduced sperm motility |
ORPHA:730 |
Diets-Jongmans Syndrome |
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Cryptorchidism, Congenital diaphragmatic hernia |
OMIM:618846 |
Monosomy 9P |
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Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormality of the tarsal bones, Cr... |
ORPHA:261112 |
Holoprosencephaly |
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Hyponatremia, Congenital diaphragmatic hernia, Cryptorchidism, Hand polydactyly, Brachydactyly |
ORPHA:2162 |
Limb Body Wall Complex |
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Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasi... |
ORPHA:2369 |
Opitz Gbbb Syndrome |
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Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:2745 |
Kabuki Syndrome |
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Congenital diaphragmatic hernia, Cryptorchidism, Small hand, Short middle phalanx of finger, Shor... |
ORPHA:2322 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Small hand, Sh... |
OMIM:301044 |
Mullegama-Klein-Martinez Syndrome |
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Clinodactyly of the 5th finger, Polydactyly, Facial palsy, Congenital diaphragmatic hernia |
OMIM:301022 |
Wolf-Hirschhorn Syndrome |
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Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, Cryptorchidism, Short thumb, Split... |
ORPHA:280 |
Pagod Syndrome |
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Abnormal testis morphology, Congenital diaphragmatic hernia |
ORPHA:991 |
C Syndrome |
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Toe syndactyly, Congenital diaphragmatic hernia, Micromelia, Cryptorchidism, Aplasia/Hypoplasia o... |
ORPHA:1308 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Congenital diaphragmatic hernia |
OMIM:309801 |
Hydrolethalus Syndrome 1 |
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Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... |
OMIM:236680 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Cryptorchidism, Congenital diaphragmatic hernia |
OMIM:617641 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614437 |
Tetraamelia Syndrome 1 |
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Congenital diaphragmatic hernia |
OMIM:273395 |
Beckwith-Wiedemann Syndrome |
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Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Elevated circulating alpha-fe... |
ORPHA:116 |
Cardiospondylocarpofacial Syndrome |
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Tarsal synostosis, Congenital diaphragmatic hernia, Short foot, Carpal synostosis, Decreased test... |
OMIM:157800 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
OMIM:600001 |
Coffin-Siris Syndrome 1 |
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Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasi... |
OMIM:135900 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Broad toe, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Postaxial polydact... |
OMIM:312870 |
Cardiac-Urogenital Syndrome |
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Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:618280 |
Cornelia De Lange Syndrome |
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Toe syndactyly, Abnormal morphology of ulna, Congenital diaphragmatic hernia, Micromelia, Proxima... |
ORPHA:199 |
Witteveen-Kolk Syndrome |
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Toe syndactyly, Overlapping toe, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Prox... |
OMIM:613406 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal testis morphology, Congenital diaphragmatic hernia |
ORPHA:2556 |
Renal Cysts And Diabetes Syndrome |
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Reduced sperm motility |
OMIM:137920 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:2255 |
Carney Complex |
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Sertoli cell neoplasm, Testicular neoplasm, Testicular adrenal rest tumor, Oligozoospermia, Decre... |
ORPHA:1359 |