| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... |
ORPHA:564003 |
| Mueller-Weiss Syndrome |
|
Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Tibial torsion, Positional... |
ORPHA:566943 |
| Sclerosteosis |
|
Optic atrophy, Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand,... |
ORPHA:3152 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Optic atrophy from cranial nerve compression, Increased bone mine... |
OMIM:239100 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... |
OMIM:112910 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands |
OMIM:615198 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| Buschke-Ollendorff Syndrome |
|
Lower limb asymmetry, Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu... |
ORPHA:1972 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... |
ORPHA:1879 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone density with cystic changes, Rod-cone dystrophy, Osteoporosis, In... |
OMIM:136300 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... |
ORPHA:3416 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... |
ORPHA:206484 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... |
OMIM:611497 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... |
ORPHA:79106 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Increased susceptibi... |
ORPHA:210110 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Short t... |
ORPHA:90650 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Papill... |
OMIM:122860 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... |
ORPHA:1423 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal limb bone morphology, Limb undergrowth, Abnormal cortica... |
ORPHA:2204 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Hip Dysplasia, Beukes Type |
|
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Hypopigmentation of the fundus, Micrognathia, Delayed ... |
ORPHA:163649 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Papilledema, Osteopetrosis, Increased bone mineral density |
OMIM:620366 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... |
OMIM:607634 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... |
ORPHA:231736 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, ... |
OMIM:215045 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
| Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morph... |
ORPHA:53 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... |
OMIM:300510 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Angioid streaks of the fundus, Retinopathy, Retinal d... |
OMIM:239000 |
| Melorheostosis |
|
Lower limb asymmetry, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthr... |
ORPHA:2485 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... |
ORPHA:93284 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Increased bone mineral density, Osteopetrosis, Optic disc pallor, Recurrent fractures |
OMIM:611490 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal epiphysis morphology, Microme... |
ORPHA:628 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... |
OMIM:166600 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... |
OMIM:201170 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Dysosteosclerosis |
|
Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte... |
ORPHA:1782 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
| Dysosteosclerosis |
|
Short diaphyses, Optic atrophy, Osteopenia, Broad femoral neck, Absent paranasal sinuses, Flared ... |
OMIM:224300 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho... |
ORPHA:1106 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Flared metaphysis, Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetros... |
OMIM:259700 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Neona... |
OMIM:251230 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... |
OMIM:144750 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... |
ORPHA:356961 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... |
ORPHA:3130 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... |
OMIM:620076 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... |
ORPHA:85184 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Retinal deta... |
OMIM:607143 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... |
OMIM:601559 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Diaphyseal dysplasia, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Ovarian Dysgenesis 10 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Hypoplasia of the ovary, Elevated c... |
OMIM:619834 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Osteogenesis Imperfecta, Type Xiii |
|
Wide distal femoral metaphysis, Recurrent fractures, Femoral bowing, Wide pubic symphysis, Joint ... |
OMIM:614856 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Genu valgum, Osteop... |
OMIM:259710 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... |
OMIM:114000 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Premature Ovarian Failure 8 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:615723 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea |
ORPHA:247768 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... |
ORPHA:2378 |
| Premature Ovarian Failure 21 |
|
Precocious puberty in females, Streak ovary, Elevated circulating follicle stimulating hormone le... |
OMIM:620311 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... |
OMIM:268305 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Micrognathia, Clinodactyly of the 5th finger, Coloboma, Osteopetrosis, Increased bone mineral den... |
OMIM:617306 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Neonatal death, Fibula... |
OMIM:227270 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... |
ORPHA:56305 |
| X-Linked Hypophosphatemia |
|
Flattening of the talar dome, Upper limb metaphyseal widening, Shortening of the talar neck, Limi... |
ORPHA:89936 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation ... |
ORPHA:91348 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Osteomalacia, Ricket... |
ORPHA:289176 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... |
OMIM:165550 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... |
OMIM:119800 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... |
OMIM:616300 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... |
ORPHA:2634 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Pes cavus, Increased bone mineral density, Coxa valga |
OMIM:616943 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Osteopetrosis |
OMIM:615085 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Optic nerve compression, Genu valgum, Cortical thickening of long bone d... |
OMIM:131300 |
| Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem... |
OMIM:258315 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Optic disc coloboma, Retina... |
OMIM:608940 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... |
ORPHA:90797 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Small hand, Rhizomelia, Lower limb asymmetry, Acromelia, Short finger, ... |
ORPHA:763 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Dumbbe... |
OMIM:156550 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries |
ORPHA:90301 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis |
ORPHA:37748 |
| Kenny-Caffey Syndrome, Type 2 |
|
Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Papilledem... |
OMIM:127000 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology |
ORPHA:1522 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypop... |
OMIM:164900 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... |
OMIM:307800 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Stillbirth, Cranial hyperostosis, Flared metaphysis, Micrognathia, Osteopetrosis, ... |
OMIM:259720 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Short thumb, Camptodactyly of finger, Carpal synostosis, Preaxial pol... |
ORPHA:90652 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... |
OMIM:300554 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Micrognathia, Osteope... |
ORPHA:2780 |
| Werner Syndrome |
|
Small hand, Joint stiffness, Abnormality of retinal pigmentation, Osteoporosis, Rocker bottom foo... |
ORPHA:902 |
| Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... |
OMIM:120200 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Decreased calvarial ossifica... |
OMIM:617925 |
| Dysostosis, Stanescu Type |
|
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ... |
ORPHA:1798 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased s... |
OMIM:618476 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... |
ORPHA:50945 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis,... |
ORPHA:94089 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... |
ORPHA:96334 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Mesomelia, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly,... |
OMIM:263520 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... |
ORPHA:3320 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... |
OMIM:119600 |
| Oculo-Palato-Cerebral Syndrome |
|
Small hand, Joint hypermobility, Retinal detachment, Remnants of the hyaloid vascular system, Sho... |
ORPHA:2714 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Majeed Syndrome |
|
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... |
ORPHA:77297 |
| Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Choroidal neovascularization, Retinal crystals, Pathologic fracture, Retinopathy, ... |
OMIM:259900 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Optic nerve compression, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia |
ORPHA:1237 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... |
OMIM:603671 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph... |
ORPHA:198 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Talipes equinovarus, Short tibia, Short femur |
OMIM:620306 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Finger clinodactyly |
ORPHA:3352 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Neonatal death, Talipes, Talipes equinovarus, Aplas... |
OMIM:108720 |
| Pycnodysostosis |
|
Aplastic clavicle, Micrognathia, Absent frontal sinuses, Brachydactyly, Narrow iliac wing, Increa... |
OMIM:265800 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon... |
ORPHA:3035 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... |
OMIM:600002 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ... |
ORPHA:2658 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... |
ORPHA:79444 |
| Schwartz-Jampel Syndrome |
|
Micrognathia, Genu valgum, Hip contracture, Bowing of the long bones, Talipes equinovarus, Pes pl... |
ORPHA:800 |
| Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Metaphyseal sclerosis, P... |
ORPHA:2905 |
| Pseudohypoparathyroidism Type 1A |
|
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica... |
ORPHA:79443 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... |
ORPHA:1788 |
| Desmosterolosis |
|
Micromelia, Micrognathia, Talipes, Osteopetrosis, Metatarsus adductus, Increased bone mineral den... |
ORPHA:35107 |
| Raine Syndrome |
|
Micromelia, Long hallux, Micrognathia, Neonatal death, Bowing of the long bones, Subperiosteal bo... |
OMIM:259775 |
| Trichothiodystrophy |
|
Osteopenia, Macular degeneration, Multiple joint contractures, Retinal degeneration, Clubbing, Cr... |
ORPHA:33364 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... |
OMIM:300009 |
| Boomerang Dysplasia |
|
Absent radius, Fibular aplasia, Hypoplastic iliac body, Neonatal death |
OMIM:112310 |
| Orofaciodigital Syndrome X |
|
Finger aplasia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand polydactyly |
OMIM:165590 |
| Fibrochondrogenesis 1 |
|
Hypoplastic ischia, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Rhizomelia, ... |
OMIM:228520 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Small hand, Micrognathia, Short foot, Short palm |
OMIM:241410 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... |
OMIM:208500 |
| Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... |
ORPHA:91495 |
| Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... |
OMIM:164745 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ... |
OMIM:610915 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Femur fracture, Oste... |
OMIM:612301 |
| Sclerosteosis 1 |
|
Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondar... |
OMIM:269500 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Kyphomelic Dysplasia |
|
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... |
OMIM:211350 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Micrognathia, Abnormal... |
ORPHA:79474 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Micrognathia... |
ORPHA:140 |
| Primary Hyperoxaluria |
|
Optic atrophy, Choroidal neovascularization, Retinopathy, Generalized osteosclerosis, Optic disc ... |
ORPHA:416 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... |
ORPHA:958 |
| Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... |
OMIM:618150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Adducted thumb, Remnants of the hyaloid vascular system, Retinal dysplasia, O... |
OMIM:614643 |
| 12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia |
ORPHA:94063 |
| Erdheim-Chester Disease |
|
Abnormal epiphysis morphology, Osteomyelitis, Increased bone mineral density, Abnormal metaphysis... |
ORPHA:35687 |
| Gaucher Disease |
|
Osteopenia, Abnormal macular morphology, Cherry red spot of the macula, Osteolysis, Osteomyelitis... |
ORPHA:355 |
| Sanjad-Sakati Syndrome |
|
Short foot, Patchy osteosclerosis, Small hand, Micrognathia |
ORPHA:2323 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
| Desmosterolosis |
|
Joint contracture of the hand, Rhizomelia, Micrognathia, Generalized osteosclerosis, Bilateral ta... |
OMIM:602398 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Micrognathia... |
OMIM:200980 |
| Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... |
ORPHA:2879 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis |
OMIM:209900 |
| Mesomelia-Synostoses Syndrome |
|
Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Progressive forearm bowing,... |
OMIM:600383 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp... |
OMIM:620558 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Optic nerve compression, Abnormal metaphysis morphology, Bowing of... |
ORPHA:667 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... |
OMIM:114290 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Vitreoretinopathy, Pathologic fracture, Increased susceptibility to fractures, Tibial... |
OMIM:259770 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... |
ORPHA:3144 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus,... |
OMIM:236680 |
| Pierson Syndrome |
|
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... |
OMIM:609049 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia |
ORPHA:1827 |
| Atelis Syndrome 2 |
|
Clinodactyly, Micrognathia, Vitreous hemorrhage, Pes planus, Remnants of the hyaloid vascular system |
OMIM:620185 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... |
OMIM:304120 |
| Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... |
OMIM:218330 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Abno... |
ORPHA:95699 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... |
OMIM:269150 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis |
ORPHA:77261 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Hand clenching, Sandal gap, Broad hallux, Contracture of the proxim... |
OMIM:300166 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Micrognathia, Retinal atrophy, Osteopetrosis, Abnormal retinal morphology, Recurre... |
ORPHA:2785 |
| Williams Syndrome |
|
Synostosis of joints, Osteopenia, Abnormal pelvic girdle bone morphology, Abnormality of the ankl... |
ORPHA:904 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalacia, Sclerosis of skull ba... |
OMIM:300373 |
| Charge Syndrome |
|
Iris coloboma, Bifid femur, Short thumb, Retinal coloboma, Micrognathia, Down-sloping shoulders, ... |
OMIM:214800 |
| Neuroocular Syndrome 1 |
|
Genu recurvatum, Prominent fingertip pads, Tibial torsion, Hypoplasia of the fovea, Tapered finge... |
OMIM:619539 |
| Full Nf2-Related Schwannomatosis |
|
Epiretinal membrane, Abnormal optic nerve morphology, Retinal hamartoma, Remnants of the hyaloid ... |
ORPHA:637 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Camptodactyly of finger, Preaxial... |
ORPHA:2753 |
| Kinsship Syndrome |
|
Osteopenia, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislocated rad... |
OMIM:619297 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... |
ORPHA:99413 |
| Turner Syndrome |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... |
ORPHA:99228 |
| Monosomy X |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... |
ORPHA:99226 |
| Norrie Disease |
|
Optic atrophy, Abnormal vitreous humor morphology, Abnormal retinal vascular morphology, Retinal ... |
ORPHA:649 |
| Holoprosencephaly 2 |
|
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
| Breast Cancer |
|
|
OMIM:114480 |
