Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:314560 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:272650 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... |
OMIM:209050 |
Blount Disease |
|
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Blount Disease, Infantile |
|
Abnormality of the proximal tibial epiphysis, Genu varum |
OMIM:188700 |
Blount Disease, Adolescent |
|
Bowing of the legs, Genu varum |
OMIM:259200 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics |
OMIM:300830 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... |
ORPHA:93405 |
Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time |
OMIM:177820 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... |
ORPHA:93356 |
Eiken Syndrome |
|
Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib... |
ORPHA:79106 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... |
OMIM:191440 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Metaphyseal Dysplasia, Spahr Type |
|
Genu valgum, Metaphyseal sclerosis, Short lower limbs, Metaphyseal widening, Metaphyseal dysplasi... |
OMIM:250400 |
Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... |
OMIM:249700 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis |
OMIM:107900 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... |
OMIM:619267 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... |
ORPHA:1972 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... |
OMIM:166740 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... |
OMIM:615888 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... |
OMIM:246570 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... |
OMIM:600785 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... |
OMIM:227270 |
Ulnar Hypoplasia With Mental Retardation |
|
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia |
OMIM:276821 |
Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... |
ORPHA:93388 |
Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... |
OMIM:605274 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna |
ORPHA:1122 |
Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Pacman Dysplasia |
|
Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
Gilles De La Tourette Syndrome |
|
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... |
OMIM:137580 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Caffey Disease |
|
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... |
OMIM:114000 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... |
ORPHA:166016 |
Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... |
OMIM:164900 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... |
ORPHA:1040 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep... |
OMIM:249600 |
Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... |
ORPHA:240 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
Shox-Related Short Stature |
|
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... |
ORPHA:314795 |
Congenital Patella Dislocation |
|
Genu valgum, Aplasia/Hypoplasia of the quadriceps, Limited knee extension, Knee flexion contractu... |
ORPHA:295036 |
Langer Mesomelic Dysplasia |
|
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... |
ORPHA:2632 |
Fibular Hemimelia |
|
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... |
ORPHA:93323 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... |
OMIM:612447 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... |
OMIM:613073 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... |
ORPHA:52056 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... |
OMIM:602111 |
Weismann-Netter Syndrome |
|
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... |
OMIM:112350 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... |
OMIM:156500 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Menorrhagia, Ecchymosis, Epistaxis, Bruising susc... |
OMIM:614201 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... |
ORPHA:75508 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Limited pronation/supination of forearm, Radioulnar synostosis |
OMIM:179300 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... |
ORPHA:2141 |
Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad... |
ORPHA:2249 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:608404 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Excessiv... |
OMIM:273800 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Single transverse palmar crease, Craniosynostosis |
OMIM:218550 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... |
ORPHA:1856 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:2779 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
Mesomelic Limb Shortening And Bowing |
|
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing... |
OMIM:249710 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Genu valgum, Talipes equinovarus, Hip dysplasia, Acetabular dysplasia, Coxa valga |
OMIM:613618 |
Ring Chromosome 4 Syndrome |
|
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... |
ORPHA:1447 |
Glanzmann Thrombasthenia |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... |
ORPHA:849 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
Boomerang Dysplasia |
|
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... |
ORPHA:1263 |
Van Bogaert-Hozay Syndrome |
|
Micrognathia, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand |
OMIM:277150 |
Atelosteogenesis, Type Iii |
|
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... |
OMIM:108721 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... |
ORPHA:1788 |
Factor V Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... |
OMIM:227400 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... |
ORPHA:3035 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... |
OMIM:617974 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... |
OMIM:135750 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... |
ORPHA:93409 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint... |
ORPHA:1570 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
Bernard-Soulier Syndrome |
|
Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Epistaxi... |
OMIM:231200 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... |
OMIM:112450 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... |
ORPHA:1802 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... |
OMIM:250460 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ... |
OMIM:600081 |
Spondyloperipheral Dysplasia |
|
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... |
OMIM:271700 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Corner fracture of metaphysis, Coxa vara, Hypoplasia of the odontoid process, Short femoral neck,... |
OMIM:184255 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... |
OMIM:201170 |
Brachydactyly, Type A1 |
|
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... |
OMIM:112500 |
Asperger Syndrome, Susceptibility To, 1 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:608631 |
Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... |
ORPHA:93384 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Genu valgum, Flat capital femoral epiphysis, Genu varum |
OMIM:608361 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
ORPHA:93396 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Lower limb undergrowth, Forearm undergrowth |
OMIM:218650 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... |
OMIM:607078 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... |
OMIM:300554 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... |
OMIM:307800 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... |
OMIM:609324 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Talipes, Clinodacty... |
ORPHA:2557 |
Boomerang Dysplasia |
|
Absent radius, Fibular aplasia, Hypoplastic iliac body |
OMIM:112310 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
Radial Hemimelia |
|
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... |
ORPHA:93321 |
Wahab Syndrome |
|
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... |
OMIM:615170 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... |
ORPHA:85165 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia |
OMIM:165590 |
Acrodysostosis |
|
Abnormal femur morphology, Short metacarpal, Hypogonadism, Cone-shaped epiphysis, Coxa valga, Gen... |
ORPHA:950 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... |
OMIM:611263 |
Parastremmatic Dwarfism |
|
Genu valgum, Bowing of the long bones |
OMIM:168400 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
Prothrombin Deficiency, Congenital |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... |
OMIM:613679 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Short low... |
ORPHA:2501 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding |
OMIM:173420 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... |
ORPHA:2256 |
Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... |
OMIM:206920 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... |
ORPHA:53697 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Irregular epiphyses, Small epiphyses, Tibial torsion, Knee osteoarthritis, Flattened knee epiphys... |
OMIM:600204 |
Brachydactyly, Type A1, B |
|
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... |
OMIM:607004 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Menorrhagia, Joint hem... |
OMIM:277480 |
Otoonychoperoneal Syndrome |
|
Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Knee flexion contra... |
OMIM:259780 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... |
OMIM:601438 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... |
ORPHA:2878 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c... |
OMIM:618395 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... |
OMIM:617719 |
Omodysplasia 2 |
|
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... |
OMIM:164745 |
Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... |
OMIM:617642 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... |
ORPHA:174 |
Otospondylomegaepiphyseal Dysplasia |
|
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... |
ORPHA:1427 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... |
OMIM:241530 |
Metacarpal 4-5 Fusion |
|
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... |
OMIM:309630 |
Mueller-Weiss Syndrome |
|
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Abnormality of the... |
ORPHA:566943 |
Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Finger aplasia, Micrognathia, Abn... |
ORPHA:3104 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short long bone, Upper-limb metaphyseal... |
OMIM:618728 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... |
OMIM:176240 |
Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... |
OMIM:600002 |
Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
Kyphomelic Dysplasia |
|
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... |
OMIM:211350 |
Acrorenal Syndrome |
|
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla... |
ORPHA:971 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... |
OMIM:613091 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... |
ORPHA:1275 |
Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... |
OMIM:108720 |
Kniest Dysplasia |
|
Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Tibial bowing,... |
OMIM:156550 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under... |
ORPHA:453510 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... |
ORPHA:2502 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Flat capital femoral epiphysis, Double-layered patella, Short metacarpal, Hypoplasia of the femor... |
OMIM:226900 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... |
ORPHA:2491 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... |
ORPHA:1837 |
Saul-Wilson Syndrome |
|
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... |
OMIM:618150 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Familial Anetoderma |
|
Abnormal tibia morphology, Generalized joint hypermobility |
ORPHA:228277 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... |
OMIM:147750 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... |
OMIM:602418 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ... |
OMIM:264700 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger aplasia, Absent thumb, Radioulnar synost... |
OMIM:614900 |
Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... |
ORPHA:93387 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
Dent Disease 1 |
|
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ... |
OMIM:300009 |
Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ... |
OMIM:277440 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr... |
ORPHA:1952 |
Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia |
OMIM:620448 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Micrognathia, Broad hall... |
OMIM:212780 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Limitation ... |
ORPHA:93308 |
Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
Thalidomide Embryopathy |
|
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... |
ORPHA:3312 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... |
ORPHA:166002 |
Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal |
OMIM:112410 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
ORPHA:357175 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Limited pronation/supination of forearm, Madelung deformity, Radial bowing |
DECIPHER:58 |
Osteogenesis Imperfecta, Type Ii |
|
Absent ossification of calvaria, Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone ... |
OMIM:166210 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence |
OMIM:179270 |
Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... |
OMIM:186500 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short 4th metacarpal, Type E brachydactyly, Short metatarsal |
OMIM:113301 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Slender long bone, Femoral retroversion, Tibial bowing, Femoral bowing, Short metacar... |
OMIM:610915 |
Adams-Oliver Syndrome 3 |
|
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... |
OMIM:614814 |
Osteogenesis Imperfecta, Type Iii |
|
Slender long bone, Tibial bowing, Multiple prenatal fractures, Decreased calvarial ossification, ... |
OMIM:259420 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... |
OMIM:602471 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Limited elbow extension, Clinodactyly of the 5th finger, Ulnar bowing, Flared metaphysis, Slender... |
OMIM:210720 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder |
OMIM:617863 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... |
OMIM:132400 |
Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Persistent bleedin... |
OMIM:614076 |
Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
Gnathodiaphyseal Dysplasia |
|
Diaphyseal cortical sclerosis, Osteopenia, Bowing of the long bones, Osteomyelitis, Increased sus... |
OMIM:166260 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt... |
OMIM:271650 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger |
OMIM:313350 |
Talo-Patello-Scaphoid Osteolysis |
|
Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae |
ORPHA:50809 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
OMIM:615162 |
Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
Campomelic Dysplasia |
|
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo... |
ORPHA:140 |
W Syndrome |
|
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Camptodactyly, Metatarsus adductus, Radial bow... |
ORPHA:2804 |
Hip Dysplasia, Beukes Type |
|
Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A... |
ORPHA:2114 |
Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
Fatco Syndrome |
|
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... |
ORPHA:2492 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... |
OMIM:155100 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Shortening of... |
OMIM:619135 |
Seckel Syndrome 1 |
|
Clinodactyly of the 5th finger, Talipes, Sandal gap, Cone-shaped epiphyses of the phalanges of th... |
OMIM:210600 |
Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
Mesomelia-Synostoses Syndrome |
|
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... |
OMIM:600383 |
Pseudopseudohypoparathyroidism |
|
Short 4th metacarpal, Short metatarsal, Brachydactyly, Short distal phalanx of the 3rd finger, Sh... |
ORPHA:79445 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... |
OMIM:608940 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic... |
ORPHA:246 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin... |
OMIM:228520 |
Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Genu valgum, Reduced bone mineral density, Broad femoral head, Shallow acetabular fos... |
OMIM:620639 |
Heart-Hand Syndrome Type 2 |
|
Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of the wrist, Abnormal metacarpal... |
ORPHA:1350 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... |
OMIM:617604 |
Oncogenic Osteomalacia |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Tibial bowing, A... |
ORPHA:352540 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... |
ORPHA:1278 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Irregular epiphyses, Abnormal femur morphology, Genu valgum, Abnormal femoral ... |
ORPHA:1822 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... |
OMIM:619598 |
Exostoses, Multiple, Type Ii |
|
Genu valgum, Protuberances at ends of long bones, Short metacarpal, Madelung-like forearm deformi... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Genu valgum, Protuberances at ends of long bones, Short metacarpal, Madelung-like forearm deformi... |
OMIM:133700 |
Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Short long... |
ORPHA:1106 |
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 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Lower limb undergrowth, Secondary amenorrhea, Brachydactyly |
OMIM:612847 |
Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... |
ORPHA:2633 |
Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... |
ORPHA:3144 |
Hemophilia B |
|
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... |
ORPHA:98879 |
Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
Pseudoachondroplasia |
|
Short long bone, Increased laxity of ankles, Flat acetabular roof, Hypoplastic pelvis, Joint stif... |
ORPHA:750 |
Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Cubitus v... |
ORPHA:1836 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... |
ORPHA:56305 |
Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... |
OMIM:251230 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... |
ORPHA:93351 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... |
ORPHA:958 |
Epiphyseal Dysplasia, Baumann Type |
|
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... |
OMIM:610797 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Mic... |
OMIM:613848 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... |
OMIM:184253 |
3M Syndrome |
|
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... |
ORPHA:2616 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... |
ORPHA:3258 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... |
OMIM:208500 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Flared metaphysis, Metaphyseal cupping, Bowing of the legs, Genu varum |
OMIM:619073 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista... |
OMIM:193400 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:185050 |
Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... |
ORPHA:2378 |
Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Enlargement of the wrists... |
ORPHA:289176 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... |
ORPHA:83468 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Increased susceptibility to fractures, Abnormal bone ossification, Genu valgum, Reduced bone mine... |
ORPHA:93315 |
Phocomelia, Schinzel Type |
|
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... |
ORPHA:2879 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:139090 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Bowing of the legs, Limb undergrowth, Limited elbow extension |
ORPHA:156728 |
Spermatogenic Failure 25 |
|
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617960 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... |
OMIM:620076 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Orofaciodigital Syndrome Iv |
|
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... |
OMIM:258860 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:188025 |
Nievergelt Syndrome |
|
Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis,... |
OMIM:163400 |
Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... |
OMIM:601559 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619528 |
Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Aplasia ... |
ORPHA:1352 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
Osteochondritis Dissecans |
|
Limited elbow extension, Abnormal tibia morphology, Limitation of joint mobility, Decreased hip a... |
ORPHA:2764 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, O... |
ORPHA:289157 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Decreased fertility, Abnormal metacarpal morphology, Hypogonadism |
ORPHA:2233 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Neonatal death, Finger aplasia |
OMIM:276822 |
Omodysplasia 1 |
|
Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ... |
OMIM:258315 |
Acromesomelic Dysplasia 1 |
|
Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep... |
OMIM:602875 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity |
OMIM:617113 |
Spermatogenic Failure 63 |
|
Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... |
OMIM:608728 |
Coloboma Of Macula And Skeletal Anomalies |
|
Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Recurrent patella... |
OMIM:216800 |
Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... |
ORPHA:2741 |
Thoracomelic Dysplasia |
|
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... |
ORPHA:1803 |
Orofaciodigital Syndrome Vi |
|
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... |
OMIM:277170 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Spermatogenic Failure 30 |
|
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia |
OMIM:618110 |
Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... |
OMIM:301101 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing |
OMIM:156232 |
Hypochondroplasia |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal pelvic girdle bone morphology... |
ORPHA:429 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
Spermatogenic Failure 50 |
|
Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia |
ORPHA:1646 |
Aase-Smith Syndrome |
|
Abnormal hip bone morphology, Slender finger, Joint stiffness, Camptodactyly of finger, Aplasia/H... |
ORPHA:916 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Tibial bowing, Femoral bowing, Osteoporosis,... |
OMIM:231070 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U... |
OMIM:616300 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... |
ORPHA:93307 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment... |
OMIM:200980 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot p... |
OMIM:119800 |
Jackson-Weiss Syndrome |
|
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... |
OMIM:123150 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Absent thumb, Forearm undergrowth |
OMIM:602200 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Endocrine-Cerebroosteodysplasia |
|
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Single transverse palmar crea... |
OMIM:612651 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures |
OMIM:615066 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density, Decreased fibular diameter, Arachnodactyly, Long finger... |
OMIM:619489 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly |
OMIM:258865 |
Kuskokwim Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the patella, Talipes, Aplasia/Hypoplasia of the radius |
ORPHA:1149 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... |
ORPHA:968 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon... |
OMIM:143095 |
Brachydactyly, Type E1 |
|
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly |
OMIM:113300 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... |
ORPHA:166277 |
Congenital Factor Ii Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... |
ORPHA:325 |
Smith-Mccort Dysplasia 2 |
|
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... |
OMIM:615222 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Multiple prenatal fractures, Joint hypermobility, Bowing of the legs, Rec... |
OMIM:301014 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior |
OMIM:301107 |
Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci... |
OMIM:114290 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis laxa, Irregular menstrua... |
OMIM:616482 |
Slc35A2-Cdg |
|
Osteopenia, Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equi... |
ORPHA:356961 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia |
OMIM:234500 |
Cranio-Osteoarthropathy |
|
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Joi... |
ORPHA:1525 |
Satoyoshi Syndrome |
|
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... |
OMIM:600705 |
Cartilage-Hair Hypoplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal bone ossification, Limited e... |
ORPHA:175 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Increased susceptibility to fractures, Generalized joint hypermobility, Osteopenia, Clinodactyly ... |
ORPHA:251028 |
Van Den Ende-Gupta Syndrome |
|
Narrow foot, Dislocated radial head, Femoral bowing, Short ribs, Arachnodactyly, Slender metacarp... |
OMIM:600920 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Pes planus, Short 5th metacarpal |
OMIM:619638 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
Juberg-Hayward Syndrome |
|
Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Ab... |
ORPHA:2319 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Epistaxis, Prolonged bleeding time |
OMIM:314050 |
Cousin Syndrome |
|
Fibular aplasia, Rhizomelia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Disloca... |
OMIM:260660 |
Dysspondyloenchondromatosis |
|
Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Metaphyseal enchon... |
ORPHA:85198 |
Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
Melnick-Needles Syndrome |
|
Limited elbow extension, Stillbirth, Genu valgum, Osteolytic defects of the phalanges of the hand... |
OMIM:309350 |
Jackson-Weiss Syndrome |
|
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S... |
ORPHA:1540 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Congenital hip disloc... |
OMIM:263750 |
Ruvalcaba Syndrome |
|
Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalan... |
OMIM:180870 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... |
ORPHA:959 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... |
ORPHA:440354 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Absent thumb, Brachydactyly, Cran... |
ORPHA:96097 |
Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Prolonged bleeding time, Abnormal bleeding, Pulmonary hemorrhage |
ORPHA:238459 |
Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... |
OMIM:607323 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short thumb, Short metacarpal, Abnormal metacarpal morphology, Duplication of the distal phalanx ... |
ORPHA:973 |
Hypochondroplasia |
|
Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie... |
OMIM:146000 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Pseudoachondroplasia |
|
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... |
OMIM:177170 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... |
OMIM:304120 |
Fanconi Anemia, Complementation Group U |
|
Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra... |
OMIM:617247 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Premature Aging Syndrome, Penttinen Type |
|
Slender long bone, Recurrent fractures, Tibial bowing, Osteolytic defects of the distal phalanges... |
OMIM:601812 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... |
OMIM:614078 |
Fanconi Anemia, Complementation Group O |
|
Hypoplasia of the radius, Proximal placement of thumb, Neonatal death, Absent thumb, Short thumb,... |
OMIM:613390 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... |
OMIM:617925 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... |
OMIM:603546 |
Osteogenesis Imperfecta, Type Xxi |
|
Bowing of the arm, Coxa vara, Osteoporosis, Joint hypermobility, Pes planus, Bowing of the legs, ... |
OMIM:619131 |
Multiple Osteochondromas |
|
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... |
ORPHA:321 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... |
OMIM:147891 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... |
ORPHA:2831 |
Congenital Factor Vii Deficiency |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... |
ORPHA:327 |
Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior |
OMIM:605899 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t... |
OMIM:607143 |
Auriculoosteodysplasia |
|
Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the radius, Hip d... |
ORPHA:114 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Factor X Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... |
OMIM:227600 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of the ulna, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Aplasia of the 5... |
OMIM:181450 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ... |
OMIM:184705 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Pes cavus, Cubitus valgus, Short metatarsal, Genu recurvatum, Short metacarpal, Broad metacarpals... |
OMIM:151200 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor... |
OMIM:218330 |
Hypophosphatasia, Childhood |
|
Bowing of the legs |
OMIM:241510 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... |
OMIM:250220 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
Synostoses, Tarsal, Carpal, And Digital |
|
Tarsal synostosis, Short metacarpal, Carpal synostosis, Metacarpophalangeal synostosis, Aplasia/H... |
OMIM:186400 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Osteosarcoma |
|
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Pathologic fracture, Abno... |
ORPHA:668 |
Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... |
ORPHA:1988 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Purpura, Impaired platelet aggregation, Petechiae, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:601399 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Osteopenia, Lambdoidal craniosynostosis, Osteoporosis, Ankle clonus |
OMIM:615398 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... |
ORPHA:93314 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... |
ORPHA:2839 |
Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... |
ORPHA:90652 |
Kinsship Syndrome |
|
Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Single transverse palmar cre... |
OMIM:619297 |
Progressive Pseudorheumatoid Dysplasia |
|
Abnormal foot morphology, Enlarged metacarpophalangeal joints, Enlarged interphalangeal joints, E... |
OMIM:208230 |
Fanconi Anemia, Complementation Group W |
|
Hypoplasia of the radius, Abnormal radial ray morphology, Absent thumb |
OMIM:617784 |
Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa... |
OMIM:142900 |
Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... |
OMIM:300373 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
Desbuquois Dysplasia 1 |
|
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Triangul... |
OMIM:251450 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Hypermobility of interphalangeal joints, Bowing of the l... |
OMIM:613849 |
Congenital Factor X Deficiency |
|
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... |
ORPHA:328 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Glass Syndrome |
|
Anterior tibial bowing, Camptodactyly, Arachnodactyly, Micrognathia, Talipes equinovarus |
OMIM:612313 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... |
OMIM:605282 |
Achondrogenesis, Type Ia |
|
Hypoplasia of the radius, Hypoplastic sacrum, Stillbirth, Talipes equinovarus, Severe limb shorte... |
OMIM:200600 |
Otopalatodigital Syndrome, Type I |
|
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... |
OMIM:311300 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... |
OMIM:618433 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... |
OMIM:617102 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth |
OMIM:613124 |
Myh9-Related Disease |
|
Bruising susceptibility, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menorrhagia |
ORPHA:182050 |
Mesomelia-Synostoses Syndrome |
|
Abnormal femur morphology, Joint stiffness, Mesomelia, Abnormality of the hand, Abnormal tibia mo... |
ORPHA:2496 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria |
OMIM:618090 |
Ivic Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Joint stiffness, Short... |
ORPHA:2307 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder |
OMIM:617028 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Radial bowing, Lim... |
OMIM:605432 |
Bruck Syndrome 2 |
|
Osteopenia, Femoral bowing, Elbow flexion contracture, Flexion contracture, Knee flexion contract... |
OMIM:609220 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ... |
ORPHA:3186 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Short first metatarsal, Single transverse palmar crease, Short distal phalanx of toe, Brachydacty... |
OMIM:601957 |
Osteogenesis Imperfecta, Type Vi |
|
Coxa vara, Protrusio acetabuli, Joint hypermobility, Bowing of the legs, Recurrent fractures, Bow... |
OMIM:613982 |
Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Menorrhagia, Epistaxis, Bruising susceptibility, Prolo... |
OMIM:614074 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
Rothmund-Thomson Syndrome |
|
Hypoplasia of the ulna, Osteopenia, Reduced bone mineral density, Metaphyseal striations, Aplasia... |
ORPHA:2909 |
Ulnar-Mammary Syndrome |
|
Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,... |
ORPHA:3138 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Genu valgum, Arthralgia of the hip, Abnormality of the epiphyses of the feet, Premature osteoarth... |
ORPHA:93311 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndac... |
OMIM:617895 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... |
OMIM:268310 |
Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi... |
ORPHA:85166 |
Alagille Syndrome |
|
Short distal phalanx of finger, Micrognathia, Clinodactyly of the 5th finger, Hypoplasia of the ulna |
ORPHA:52 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Femoral bowing, Recurrent fractures, Osteoporosis |
OMIM:126550 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal thumb morphology, Long foot, Tibial bowing, Abnormal femoral torsion, Camptodactyly, Met... |
ORPHA:500095 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Pathologic fracture, Tibial bowing, Osteoporosis, Metaphyseal widening, Joint hypermo... |
OMIM:259770 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metatarsal, Short ... |
OMIM:190351 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho... |
OMIM:250420 |
Acromesomelic Dysplasia 4 |
|
Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ... |
OMIM:619636 |
Satoyoshi Syndrome |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the wrist, Abnormal hip... |
ORPHA:3130 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Metaphyseal chond... |
ORPHA:93317 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Short tibia, Talipes equinovarus |
OMIM:620306 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:612463 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... |
OMIM:185800 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Fibular overgrowth, Generalized bone demineralization, Flared metaphysis, Delayed epiphyseal ossi... |
ORPHA:93352 |
Nager Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abnormality of th... |
ORPHA:245 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia, Motor stereotypy, Aggressive behavior |
OMIM:609425 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short 1st metacarpal, Wide distal femoral metaphysis, Single transverse palmar crease, Tibial bow... |
OMIM:269150 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb |
OMIM:179280 |
Combined Deficiency Of Factor V And Factor Viii |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... |
ORPHA:35909 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... |
ORPHA:96334 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormal bleeding, Bruising susceptibility |
ORPHA:3318 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... |
ORPHA:85167 |
Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619949 |
Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap |
OMIM:612916 |
Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... |
OMIM:618718 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Oligodactyly, Ectrodactyly |
ORPHA:3016 |
Dyschondrosteosis-Nephritis Syndrome |
|
Madelung deformity, Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing |
ORPHA:1765 |
Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Bowing of the legs |
OMIM:219250 |
Paget Disease Of Bone 2, Early-Onset |
|
Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones... |
OMIM:602080 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Narrow greater sciatic notch, Flared metaphysis, Delayed epiphyseal ossification, Short ribs, Cen... |
OMIM:602557 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P... |
OMIM:112250 |
Czech Dysplasia |
|
Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Short metacarpal, Coxa vara,... |
OMIM:609162 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... |
OMIM:218600 |
Atelosteogenesis Type Ii |
|
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, E... |
ORPHA:56304 |
Achondroplasia |
|
Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel... |
ORPHA:15 |
Osteogenesis Imperfecta, Type Xviii |
|
Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Micrognathia, Joint hypermobi... |
OMIM:617952 |
Anauxetic Dysplasia 3 |
|
Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping, Femoral bowing... |
OMIM:618853 |
Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... |
ORPHA:2751 |
Hand-Foot-Genital Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... |
OMIM:140000 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Genu valgum, Osteoporosis |
OMIM:614880 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:615541 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced ossification... |
OMIM:614613 |
Congenital Syphilis |
|
Periostitis, Tibial bowing, Synovitis |
ORPHA:499009 |
X-Linked Hypophosphatemia |
|
Rickets, Genu valgum, Reduced bone mineral density, Vertebral hyperostosis, Craniosynostosis, Gen... |
ORPHA:89936 |
Gand Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Fanconi Anemia |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ... |
ORPHA:84 |
Achondroplasia |
|
Narrow greater sciatic notch, Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysi... |
OMIM:100800 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Limited elbow extension, Short 4th metacarpal, Genu valgum, Rhizomelia, Knee flexion contracture,... |
OMIM:618019 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Ulbright-Hodes Syndrome |
|
Hypoplasia of the radius, Fibular aplasia, Short ribs, Short metacarpal, Humeroradial synostosis,... |
ORPHA:3404 |
Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Fibular hypoplasia, Hip subluxation, Micrognathia, Hypoplasia of proximal radius, Brachydactyly, ... |
ORPHA:444077 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification o... |
OMIM:620099 |
Occipital Horn Syndrome |
|
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... |
ORPHA:198 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Spermatogenic Failure 2 |
|
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia |
OMIM:108420 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl... |
OMIM:271665 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... |
OMIM:263520 |
Fanconi Anemia, Complementation Group P |
|
Hypoplasia of the radius, Micrognathia, Absent thumb, Short thumb |
OMIM:613951 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Bruising susceptibility, Intracranial hemorrhage |
ORPHA:3226 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... |
ORPHA:1307 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... |
ORPHA:457395 |
Roberts Syndrome |
|
Bilateral single transverse palmar creases, Hypoplasia of the radius, Radial deviation of finger,... |
ORPHA:3103 |
Phenylketonuria |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Self-mutilation, A... |
OMIM:261600 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone,... |
OMIM:151210 |
Klippel-Trénaunay Syndrome |
|
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage |
ORPHA:90308 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Abnormal foot morphology, Genu valgum, Reduced bone mineral density, Smal... |
ORPHA:94068 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior |
OMIM:620023 |
Schwartz-Jampel Syndrome, Type 1 |
|
Abnormal femoral epiphysis morphology, Flexion contracture of toe, Talipes equinovarus, Shoulder ... |
OMIM:255800 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Short clavicles, Abnormality of the lower limb, Steep acetabular roof, Hypoplastic is... |
ORPHA:313855 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Polyphagia, Inappropriate laughter, Ataxia |
ORPHA:411515 |
Hand-Foot-Genital Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... |
ORPHA:2438 |
Marinesco-Sjogren Syndrome |
|
Cubitus valgus, Short metatarsal, Short metacarpal, Hypergonadotropic hypogonadism, Pes planus, C... |
OMIM:248800 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, Prolonged bleedi... |
OMIM:203300 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dysphagia, Aggressive behavior |
ORPHA:500180 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shuffling gait, Aggres... |
ORPHA:3077 |
Trichorhinophalangeal Syndrome Type 1 |
|
Clinodactyly of the 5th finger, Short metatarsal, Short metacarpal, Camptodactyly of finger, Micr... |
ORPHA:77258 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
Schinzel-Giedion Syndrome |
|
Hypoplastic pubic bone, Tibial bowing, Camptodactyly, Micrognathia, Radioulnar synostosis, Short ... |
ORPHA:798 |
Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Thanatophoric Dysplasia, Type I |
|
Short greater sciatic notch, Flared metaphysis, Short long bone, Femoral bowing, Bowing of the lo... |
OMIM:187600 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, F... |
OMIM:616723 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... |
OMIM:617866 |
Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Disloc... |
OMIM:614856 |
Pde4D Haploinsufficiency Syndrome |
|
Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa... |
ORPHA:439822 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Hypophosphatasia, Infantile |
|
Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Micromelia, Decreased c... |
OMIM:241500 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Short long bone, Femoral bowing, Short ribs, Acetabular spurs, Postaxial po... |
OMIM:615503 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Reduced bone mineral density, Hypophosphatemic rickets, Osteomalacia, Pathologic fracture, Bowing... |
ORPHA:157215 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... |
OMIM:610442 |
Radio-Renal Syndrome |
|
Hypoplasia of the radius, Micromelia, Short palm, Micrognathia, Brachydactyly, Abnormality of the... |
ORPHA:3015 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... |
ORPHA:1860 |
Roifman-Chitayat Syndrome |
|
Cone-shaped epiphysis, Short metatarsal, Short metacarpal |
OMIM:613328 |
Hemophilia B |
|
Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... |
OMIM:306900 |
Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Absent thumb, Short thumb, Short 1st metacarpal |
OMIM:609053 |
Pseudohypoparathyroidism, Type Ia |
|
Short finger, Short metatarsal, Short metacarpal, Short toe, Brachydactyly, Hypogonadism |
OMIM:103580 |
Tarp Syndrome |
|
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease... |
OMIM:311900 |
Spermatogenic Failure 77 |
|
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia |
OMIM:620103 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Epistaxis |
OMIM:610842 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
Roberts-Sc Phocomelia Syndrome |
|
Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thumb, Syndactyly, A... |
OMIM:268300 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... |
OMIM:149730 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, 2-3 toe syndactyly, Broad femoral neck, Micrognathia, Large hands, Metaphyseal wideni... |
OMIM:617164 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Clubbing of fingers, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplastic ilia, Micro... |
ORPHA:1865 |
Atelosteogenesis Type I |
|
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Short long... |
ORPHA:1190 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Hypoplastic sacrum, Rhizomelia, Short metatarsal, Oligozoospermia, Short metacarpal, Short foot, ... |
OMIM:614813 |
Acromelic Frontonasal Dysostosis |
|
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... |
OMIM:603671 |
Acrofacial Dysostosis 1, Nager Type |
|
Limited elbow extension, Hypoplasia of the radius, Radial deviation of finger, Triphalangeal thum... |
OMIM:154400 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Femoral bowing, Hip dysplasia, Joint hypermobility, Finger joint hypermobility, Recur... |
OMIM:166200 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Osteogenesis Imperfecta, Type Iv |
|
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Bowing of... |
OMIM:166220 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Femoral bowing, Camptodactyly, Hum... |
OMIM:207410 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... |
ORPHA:1826 |
Hermansky-Pudlak Syndrome 6 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Ecchym... |
OMIM:614075 |
Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Pseudohypoparathyroidism, Type Ic |
|
Hypogonadism, Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:612462 |
Osteoglophonic Dysplasia |
|
Broad metacarpals, Rhizomelia, Short metatarsal, Broad palm, Short metacarpal, Broad metatarsal, ... |
OMIM:166250 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... |
OMIM:277450 |
Holzgreve Syndrome |
|
Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2167 |
Hydrolethalus Syndrome 1 |
|
Stillbirth, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux,... |
OMIM:236680 |
Wiskott-Aldrich Syndrome |
|
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Abnormal platelet function, Gingival blee... |
ORPHA:906 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive beh... |
OMIM:610042 |
Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:570 |
Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
Fanconi Anemia, Complementation Group N |
|
Hypoplasia of the radius, Absent thumb, Short thumb |
OMIM:610832 |
Fanconi Anemia, Complementation Group F |
|
Hypoplasia of the radius, Short thumb, Absent thumb, 2-3 finger syndactyly |
OMIM:603467 |
Mixed Connective Tissue Disease |
|
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura |
ORPHA:809 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... |
OMIM:170390 |
Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus |
ORPHA:1827 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... |
OMIM:101800 |
Alagille Syndrome 1 |
|
Short distal phalanx of finger, Hypoplasia of the ulna |
OMIM:118450 |
Aromatase Deficiency |
|
Male infertility, Genu valgum, Delayed epiphyseal ossification, Hypergonadotropic hypogonadism, F... |
ORPHA:91 |
Spermatogenic Failure 14 |
|
Male infertility, Round spermatid arrest, Azoospermia |
OMIM:615842 |
Charge Syndrome |
|
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Hand polyd... |
OMIM:214800 |
Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Absence of the sacrum |
ORPHA:3169 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy |
OMIM:617600 |
Dent Disease |
|
Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, A... |
ORPHA:1652 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
Congenital Fibrinogen Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Abnormal u... |
ORPHA:335 |
Camurati-Engelmann Disease |
|
Genu valgum, Abnormal diaphysis morphology, Abnormal femur morphology, Abnormal tibia morphology,... |
ORPHA:1328 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Oligozoospermia |
ORPHA:3000 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Complete duplication of thumb phalanx, Absent t... |
OMIM:227650 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Mosaic Trisomy 16 |
|
Single transverse palmar crease, Short thumb, Short forearm, Syndactyly, Short femoral neck, Clin... |
ORPHA:1708 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Tarp Syndrome |
|
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Postaxial polydactyly, Sh... |
ORPHA:2886 |
47,Xyy Syndrome |
|
Male infertility, Finger clinodactyly, Oligozoospermia, Azoospermia |
ORPHA:8 |
Cornelia De Lange Syndrome 1 |
|
Limited elbow extension, Hypoplasia of the radius, Clinodactyly of the 5th finger, Proximal place... |
OMIM:122470 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Male infertility, Oligozoospermia |
ORPHA:48 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation |
OMIM:608233 |
Duane Retraction Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu... |
ORPHA:233 |
Vacterl With Hydrocephalus |
|
Hypoplasia of the radius, Micrognathia, Absence of the sacrum, Hip dislocation |
ORPHA:3412 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Rhizomelia, Crumpled long bones, Femoral retroversion, Micromelia, Coxa vara, Multipl... |
OMIM:610682 |
Spermatogenic Failure 13 |
|
Male infertility, Azoospermia |
OMIM:615841 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Hypoplasia of the radius, Toe syndactyly, Clinodactyly of the 5th finger |
ORPHA:140952 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Acquired Von Willebrand Syndrome |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Menorrhagia, Joint hemorrhage, E... |
ORPHA:99147 |
Short-Rib Thoracic Dysplasia 12 |
|
Short finger, Short long bone, Short ribs, Short palm, Broad foot, Limb undergrowth, Short toe, B... |
OMIM:269860 |
Ring Chromosome Y Syndrome |
|
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... |
ORPHA:261529 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Macular purpura, Intracranial hemorrhage, Internal hemorrhage |
ORPHA:49566 |
Primary Ciliary Dyskinesia |
|
Male infertility, Clubbing, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Diamond-Blackfan Anemia 1 |
|
Hypoplasia of the radius, Triphalangeal thumb, Hypoplastic coccygeal vertebrae, 11 pairs of ribs,... |
OMIM:105650 |
Vater/Vacterl Association |
|
Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Syndactyly, Short thumb, Rad... |
OMIM:192350 |
Spondyloenchondrodysplasia |
|
Hypoplastic ilia, Limb undergrowth, Metaphyseal dysplasia, Short distal phalanx of finger, Bowing... |
ORPHA:1855 |
Wiskott-Aldrich Syndrome |
|
Hematemesis, Purpura, Melena, Petechiae, Gingival bleeding, Epistaxis, Prolonged bleeding time |
OMIM:301000 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... |
ORPHA:2753 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
Lacrimoauriculodentodigital Syndrome |
|
Hypoplasia of the radius, Abnormal thumb morphology, Finger syndactyly, Abnormal digit morphology... |
ORPHA:2363 |
Meier-Gorlin Syndrome 7 |
|
Joint hypermobility, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3 toe syndactyl... |
OMIM:617063 |
Cog8-Cdg |
|
Prolonged prothrombin time, Spontaneous hematomas |
ORPHA:95428 |
Thauvin-Robinet-Faivre Syndrome |
|
Long foot, Long hallux, Large hands, Pes planus, Bowing of the legs, Pedal edema |
OMIM:617107 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation |
ORPHA:424 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Short 4th metacarpal, Male infertility, Cubitus valgus, Short metatarsal, Azoospermia, Micrognath... |
ORPHA:1772 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Prolonged prothrombin time, Hematochezia |
OMIM:214950 |
Relapsing Fever |
|
Prolonged prothrombin time, Abnormal bleeding, Epistaxis |
ORPHA:91547 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia |
OMIM:620047 |
Hepatoportal Sclerosis |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:64743 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility |
ORPHA:287 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time |
OMIM:614300 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time |
OMIM:613070 |
Sialuria |
|
Prolonged prothrombin time |
ORPHA:3166 |
Infantile Liver Failure Syndrome 3 |
|
Prolonged prothrombin time |
OMIM:618641 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time |
OMIM:618280 |
Cystic Fibrosis |
|
Male infertility, Clubbing of fingers |
OMIM:219700 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Prolonged prothrombin time, Hematochezia |
OMIM:613812 |
Monosomy 13Q34 |
|
Prolonged prothrombin time, Epistaxis, Hematochezia |
ORPHA:96168 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Cerebellar hemorrhage |
ORPHA:99901 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time |
ORPHA:367 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time |
ORPHA:79303 |
3-Methylglutaconic Aciduria, Type Viib |
|
Prolonged prothrombin time, Abnormal bleeding |
OMIM:616271 |
Cystinosis, Nephropathic |
|
Male infertility, Metaphyseal widening, Genu valgum, Male hypogonadism |
OMIM:219800 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time |
ORPHA:88618 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Prolonged prothrombin time |
OMIM:267700 |
Noonan Syndrome 1 |
|
Male infertility, Radial deviation of finger, Cubitus valgus, Micrognathia, Hypogonadism, Brachyd... |
OMIM:163950 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged prothrombin time |
ORPHA:71212 |
Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage |
ORPHA:244242 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Intraventricular hemorrhage |
OMIM:619055 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Prolonged prothrombin time |
OMIM:618329 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Prolonged prothrombin time |
OMIM:603553 |
Celiac Disease, Susceptibility To, 1 |
|
Prolonged prothrombin time |
OMIM:212750 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Prolonged prothrombin time |
OMIM:212065 |
Congenital Disorder Of Glycosylation, Type It |
|
Prolonged prothrombin time |
OMIM:614921 |
Alg12-Cdg |
|
Prolonged prothrombin time |
ORPHA:79324 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Prolonged prothrombin time |
ORPHA:20 |
Kasabach-Merritt Phenomenon |
|
Prolonged prothrombin time, Petechiae, Purpura |
ORPHA:2330 |
Shwachman-Diamond Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:617941 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Isolated Biliary Atresia |
|
Prolonged prothrombin time |
ORPHA:30391 |
Abetalipoproteinemia |
|
Prolonged prothrombin time, Abnormal bleeding |
ORPHA:14 |
Tyrosinemia, Type I |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena |
OMIM:276700 |
Marburg Hemorrhagic Fever |
|
Prolonged prothrombin time, Abnormal bleeding, Petechiae, Internal hemorrhage, Subconjunctival he... |
ORPHA:99826 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Prolonged prothrombin time |
ORPHA:404454 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Prolonged prothrombin time |
ORPHA:309854 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:247598 |
Acute Liver Failure |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Intracranial hemorrha... |
ORPHA:90062 |
Yellow Fever |
|
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Internal hemorrhage, Excessive bleedi... |
ORPHA:99829 |
Primary Sclerosing Cholangitis |
|
Prolonged prothrombin time |
ORPHA:171 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Prolonged prothrombin time, Bleeding with minor or no trauma |
OMIM:619525 |