| Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
| Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
| Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
| Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
| Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
| Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
| Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility |
OMIM:617442 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
| Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Insulin-Like Growth Factor I Deficiency |
|
Decreased body weight, Hyperactivity, Osteopenia, Micrognathia, Clinodactyly, Radial deviation of... |
OMIM:608747 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr... |
OMIM:612310 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... |
ORPHA:2098 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... |
ORPHA:399805 |
| Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
| Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
| Pyknoachondrogenesis |
|
Stillbirth, Increased bone mineral density |
OMIM:265880 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology, Generalized osteosclerosis, Abnormal cortical bone... |
ORPHA:2790 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Aplasia of the ovary, Primary amenorrhea |
OMIM:614324 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
| Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis |
ORPHA:3268 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
| Slc35A2-Cdg |
|
Talipes equinovarus, Craniosynostosis, Osteopenia, Camptodactyly of finger, Short tibia, Aplasia/... |
ORPHA:356961 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Gout, Osteoporosis, Impaired glucose tolerance, Diabetes mellitus |
OMIM:610947 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... |
ORPHA:166016 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
| Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
| Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... |
OMIM:251230 |
| Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Lon... |
ORPHA:2635 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis |
ORPHA:1513 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short ... |
OMIM:607143 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofaci... |
OMIM:122860 |
| Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... |
OMIM:601560 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Osteopenia, Primary amenorrhea, Impaired glucose tolerance |
OMIM:615363 |
| Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
| Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Decreased skull ossification, A... |
ORPHA:2097 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Talipes equinovarus, Small hand, Short foot, Hip dislocation |
OMIM:300434 |
| Caffey Disease |
|
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
| Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Missing ribs, Short thorax, L... |
ORPHA:1801 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Pectus excavatum, Dentinogenesis imperfecta, Decreased calvarial ossificatio... |
OMIM:259440 |
| Achondrogenesis Type 1B |
|
Narrow chest, Abnormal rib morphology, Femoral hernia, Short thorax, Umbilical hernia, Abnormal e... |
ORPHA:93298 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
| Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short femur, Mi... |
ORPHA:1988 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Atelosteogenesis Type Iii |
|
Laryngotracheomalacia, Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Mic... |
ORPHA:56305 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Clinodactyly of the 5th finger, Hyperactivity, Small for gestational age, Micr... |
ORPHA:73272 |
| Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Toe syndactyly, Camptodactyly |
OMIM:258865 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... |
OMIM:609945 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
| Classic Galactosemia |
|
Reduced bone mineral density, Oligomenorrhea, Primary amenorrhea, Osteoporosis, Abnormal erythroc... |
ORPHA:79239 |
| Ck Syndrome |
|
Slender build, Hyperactivity, Micrognathia, Abnormal digit morphology, Joint hypermobility, Abnor... |
OMIM:300831 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Male hypogonadism, Superior rib anomalies |
OMIM:307500 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... |
OMIM:307800 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
| Omodysplasia 1 |
|
Limited knee flexion/extension, Limited knee flexion, Increased fibular diameter, Micrognathia, S... |
OMIM:258315 |
| Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
| Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Femoral hernia, Short thorax, Umbilica... |
ORPHA:93299 |
| Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Osteopenia, Thin ribs, Short ribs |
OMIM:618188 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Omphalocele, Decreased skull... |
ORPHA:93267 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
| Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... |
ORPHA:198 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
| Aromatase Deficiency |
|
Delayed epiphyseal ossification, Female infertility, Eunuchoid habitus, Hypergonadotropic hypogon... |
ORPHA:91 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Hypergonadotrop... |
OMIM:609441 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Limited elbow extension, Hyperosto... |
OMIM:604922 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Splenomegaly, Micrognathia, Abnormal... |
ORPHA:3035 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Rib fusion, Contracture of the proximal interphalan... |
OMIM:609813 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:264700 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Reduced bone mineral density, Camptodactyly of finger, Abnormal ... |
ORPHA:1488 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obesity, Lateral clavicle ... |
OMIM:615633 |
| Axial Spondylometaphyseal Dysplasia |
|
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, D... |
ORPHA:168549 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Diabetes mellitus, ... |
OMIM:614613 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnormal rib morpholo... |
ORPHA:93351 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
| Mosaic Trisomy 14 |
|
Narrow chest, Failure to thrive, Camptodactyly of finger, Abnormal rib morphology |
ORPHA:1703 |
| Faciocardiomelic Dysplasia, Lethal |
|
Small for gestational age, Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia o... |
OMIM:227270 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... |
ORPHA:2772 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Premature ovari... |
OMIM:110100 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormal rib morphology, Hypogonadism, Obesity, Decreased fertility |
ORPHA:2234 |
| Hypophosphatasia |
|
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Failure to thrive i... |
ORPHA:436 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs |
OMIM:617405 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Decreased calvaria... |
OMIM:617925 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Rib fusion, Abnormal rib morphology, Missing ribs, Short thorax, Block vertebrae, Vertebral fusion |
OMIM:613686 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Cone-shap... |
ORPHA:397973 |
| Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Abnormality of the ankles, Hypoplasia of the capital femoral epiphysis, Abnor... |
ORPHA:239 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Thin ribs, Small for gestational age, Bell-shaped thorax, Absent ossificatio... |
OMIM:166210 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Recurrent fractures, Abnormal cortical bone morphology, Limitation of jo... |
ORPHA:1486 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed ossification of carp... |
OMIM:600002 |
| Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:300009 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... |
OMIM:602196 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
| Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... |
ORPHA:474 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal rib morphology |
ORPHA:1354 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T... |
ORPHA:99429 |
| Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
| Diastrophic Dysplasia |
|
Joint stiffness, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of f... |
ORPHA:628 |
| Metatropic Dysplasia |
|
Narrow chest, Flexion contracture, Short ribs, Clavicular pseudarthrosis, Flaring of rib cage, Ar... |
OMIM:156530 |
| Melnick-Needles Syndrome |
|
Narrow chest, Short clavicles, Osteolytic defects of the phalanges of the hand, Abnormal rib morp... |
ORPHA:2484 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Abnormal rib morphology, Osteopenia, Failure to thrive in infancy, Camptodactyly |
OMIM:611209 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Decreased body weight, Arthrogryposis multiplex congenita, Craniosynostosis |
OMIM:618265 |
| Achondrogenesis, Type Ia |
|
Narrow chest, Short clavicles, Short ribs, Barrel-shaped chest, Broad clavicles, Bell-shaped thor... |
OMIM:200600 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
| Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Thin ribs, Thin bony cortex, Joint laxity, Umbilical hernia, Joint hypermobi... |
OMIM:617952 |
| 47,Xyy Syndrome |
|
Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Azoospermia, Cryptorchidism,... |
ORPHA:8 |
| Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Short metacarpal, I... |
OMIM:610915 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Distal symphalangis... |
OMIM:210720 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Small for gestational age, Osteopenia,... |
OMIM:616229 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Pectus carinatum, Abnormal rib morphology, Limitation of joint mob... |
ORPHA:3068 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Short ribs, Multiple rib fractures, Osteopenia, Small for gestational age, T... |
OMIM:616897 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Broad ribs, Flaring... |
OMIM:612852 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... |
ORPHA:289157 |
| Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
ORPHA:2345 |
| Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Metaphyseal dysplasia, Hyperactivity, Reduced bone mineral density, Micrognath... |
OMIM:617052 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
| Renpenning Syndrome |
|
Sprengel anomaly, Joint stiffness, Pectus excavatum, Cachexia, Abnormal rib morphology |
ORPHA:3242 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... |
OMIM:263520 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Craniosynostosis |
OMIM:218550 |
| Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
| Seckel Syndrome 1 |
|
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... |
OMIM:210600 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Short ribs, Elbow flexion contracture, Knee flexion contracture, Arthrogryposis ... |
ORPHA:1145 |
| Mucopolysaccharidosis Type 4 |
|
Reduced bone mineral density, Pectus carinatum, Grayish enamel, Abnormal rib morphology, Hernia, ... |
ORPHA:582 |
| Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Hyperactivity, Inguinal hernia, Splenomegaly, Dense calvaria, Umbilical hernia |
OMIM:252900 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Thin ribs, Thin clavicles, Calvarial osteosclerosis, ... |
ORPHA:93324 |
| Becker Nevus Syndrome |
|
Rib fusion, Pectus excavatum, Lipoatrophy, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Clinodactyly of the 5th finger, Hyperactivity, Inguinal hernia, Small hand, Cachexia, Camptodacty... |
ORPHA:85293 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal rib morphology, Posterior rib fusion, Short thorax, Missing ribs |
ORPHA:1797 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Dentinogenesis imperfecta, Thin ribs, Decreased calvarial ossification, Seve... |
OMIM:259420 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Azoospermia |
ORPHA:2578 |
| Thoracolaryngopelvic Dysplasia |
|
Slender build, Irregular chondrocostal junctions, Short ribs, Bell-shaped thorax, Horizontal ribs |
OMIM:187760 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Short ribs, Thin ribs, Decreased cranial base ossification |
OMIM:151210 |
| Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
| Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Dentinogenesis imperfecta, Thin ribs, Coronal craniosynostosis, Osteopenia, Lam... |
OMIM:616294 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs |
OMIM:200610 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Thin clavicles, Calvarial osteosclerosis, Decreased skull ossification |
OMIM:244460 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Enamel hypoplasia |
ORPHA:2643 |
| Dysosteosclerosis |
|
Narrow chest, Sclerosis of skull base, Short sternum, Short ribs, Osteopenia, Clavicular sclerosi... |
OMIM:224300 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
| White Forelock With Malformations |
|
Sprengel anomaly, Joint hyperflexibility, Abnormal rib morphology |
ORPHA:2475 |
| Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Bell-shaped thorax, Abnormal rib morphology, H... |
ORPHA:2021 |
| Osteogenesis Imperfecta, Type X |
|
Narrow chest, Dentinogenesis imperfecta, Thin ribs, Generalized joint laxity, Inguinal hernia, Os... |
OMIM:613848 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Fused cervical vertebrae, Pectus excavatum, Abnormal rib morphology |
ORPHA:2522 |
| Fibrochondrogenesis 1 |
|
Short palm, Clinodactyly of the 5th finger, Joint contracture of the hand, Narrow greater sciatic... |
OMIM:228520 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Decreased skull ossification, Thin ribs |
OMIM:300863 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Holt-Oram Syndrome |
|
Sprengel anomaly, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down-sloping s... |
ORPHA:392 |
| Prune Belly Syndrome |
|
Abnormal rib morphology, Failure to thrive, Pectus excavatum, Decreased fertility |
ORPHA:2970 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology, Camptodactyly of finger, Synostosis of carpal bones, Tarsal synostosis |
ORPHA:1836 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
| Antley-Bixler Syndrome |
|
Narrow chest, Recurrent fractures, Joint stiffness, Elbow ankylosis, Craniosynostosis, Camptodact... |
ORPHA:83 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib fusion, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of finger, Abnormal r... |
ORPHA:2311 |
| X-Linked Hypophosphatemia |
|
Cellulitis, Craniosynostosis, Reduced bone mineral density, Rachitic rosary, Arthritis, Vertebral... |
ORPHA:89936 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Barrel-shaped chest, 11 pairs of ribs, Fractured rib, Thora... |
OMIM:215140 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Azoospermia, Abnormal rib morphology |
OMIM:601076 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Obesity, Abnormal dental enamel morphology, Abnormal rib morphology |
ORPHA:2180 |
| Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary ... |
ORPHA:958 |
| 3M Syndrome |
|
Enlarged thorax, Thin ribs, Horizontal ribs, Short thorax, Scapular winging, Joint hyperflexibili... |
ORPHA:2616 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad ribs, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Bowing of limbs due to multiple fractures, Thin ribs, Joint hypermobility |
OMIM:615220 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Hyperactivity, Arachnodactyly, Pes planus, Attention deficit hyperactivity disorde... |
OMIM:617600 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Horizontal ribs, Omphalocele, Thoracic hypoplasia, Lateral clavicle hook |
OMIM:617895 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs |
OMIM:173800 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Fibrous dysplasia of the bones, Osteomalacia, Thin bony cortex, Abn... |
ORPHA:249 |
| Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Failure to thrive, Increased bone mineral density, Flared iliac wing, Abnormal... |
ORPHA:90652 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Hyperactivity, Dense calvaria, Splenomegaly |
OMIM:252920 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Narrow chest, Abnormal bone ossification, Thin ribs, Abnormal thorax morphology, Generalized bone... |
ORPHA:73230 |
| Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture of... |
OMIM:260660 |
| Mucopolysaccharidosis, Type Iiic |
|
Joint stiffness, Hyperactivity, Splenomegaly, Dense calvaria, Hernia |
OMIM:252930 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Irregular menstruation, Broad clavicles, Facial palsy second... |
OMIM:269500 |
| Nestor-Guillermo Progeria Syndrome |
|
Joint stiffness, Failure to thrive, Lipoatrophy, Flexion contracture, Thin ribs, Osteoporosis, Li... |
OMIM:614008 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Joint hyperflexibility, Missing ribs |
ORPHA:2759 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Abnormal bone ossification, Eunuchoid habitus, Thin ribs, Osteopenia, Loss of t... |
ORPHA:2463 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowin... |
OMIM:114290 |
| Cleidocranial Dysplasia |
|
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Osteoporosis, Abnorma... |
ORPHA:1452 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short thumb... |
OMIM:227650 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... |
ORPHA:1788 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Oligo... |
ORPHA:572333 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pectus excavatum, Minimal subcutaneous fat, Joint contracture of the hand, Thin ribs, Craniosynos... |
OMIM:182212 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal rib morphology, Hernia of the abdominal wall, Pectus carinatum |
ORPHA:3082 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Coat hanger sign of ribs, Large for gestational age, Umbilical hernia,... |
ORPHA:254534 |
| Mucopolysaccharidosis, Type Ivb |
|
Prominent sternum, Inguinal hernia, Osteoporosis, Grayish enamel, Flaring of rib cage, Joint laxity |
OMIM:253010 |
| Sprengel Deformity |
|
Sprengel anomaly, Rib segmentation abnormalities |
OMIM:184400 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Split foot, Hypoplasia of the radius, Micrognathia, Hand polydac... |
OMIM:200980 |
| Holzgreve Syndrome |
|
Abnormal rib morphology, Joint stiffness, Abnormally ossified vertebrae |
ORPHA:2167 |
| Pyknoachondrogenesis |
|
Sclerosis of skull base, Enlarged thorax, Short ribs, Poorly ossified vertebrae, Horizontal ribs,... |
ORPHA:3003 |
| Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... |
OMIM:211350 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Rib fusion, Vertebral fusion |
OMIM:277300 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Flexion contracture, Increased connective tissue, Abnormal thorax morphology, Arthrogr... |
ORPHA:171430 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling |
OMIM:609616 |
| Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Congenital contracture, Flexion contracture, Small for gestational age |
OMIM:615368 |
| Mucopolysaccharidosis, Type Iva |
|
Prominent sternum, Inguinal hernia, Osteoporosis, Pectus carinatum, Grayish enamel, Flaring of ri... |
OMIM:253000 |
| Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Carpal synostosis, Craniosynostosis, Increased density of long b... |
OMIM:305620 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion contracture, Inguinal... |
ORPHA:254528 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Decreased body weight, Flexion contracture |
OMIM:614833 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossification, Apla... |
OMIM:276820 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Chordee, Failure to thrive, Proximal symphalangism of hands, Inguinal hernia, Hyperextensibility ... |
OMIM:151050 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Enlarged thorax, Female infertility, Pectus excavatum, Short sternum, Reduced bone mineral densit... |
ORPHA:99413 |
| Turner Syndrome |
|
Enlarged thorax, Female infertility, Pectus excavatum, Short sternum, Reduced bone mineral densit... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Enlarged thorax, Female infertility, Pectus excavatum, Short sternum, Reduced bone mineral densit... |
ORPHA:99228 |
| Monosomy X |
|
Enlarged thorax, Female infertility, Pectus excavatum, Short sternum, Reduced bone mineral densit... |
ORPHA:99226 |
| Bloom Syndrome |
|
Abdominal obesity, Abnormal proportion of CD8-positive T cells, Small for gestational age, Microg... |
ORPHA:125 |
| Occipital Horn Syndrome |
|
Narrow chest, Short clavicles, Pectus excavatum, Hiatus hernia, Osteoporosis, Limited elbow exten... |
OMIM:304150 |
| Campomelia, Cumming Type |
|
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae |
ORPHA:1318 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal vertebral se... |
OMIM:118100 |
| Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
| Trisomy 13 |
|
Narrow chest, Hernia, Abnormal rib morphology |
ORPHA:3378 |
| Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing |
OMIM:113470 |
| Acromelic Frontonasal Dysplasia |
|
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Midline central nervous system lipomas, Pat... |
ORPHA:1827 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Horizontal ribs, Inguinal hernia, Bell-shaped thorax |
OMIM:614857 |
| Poland Syndrome |
|
Sprengel anomaly, Abnormal sternum morphology, Asymmetry of the thorax, Congenital diaphragmatic ... |
ORPHA:2911 |
| Schneckenbecken Dysplasia |
|
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... |
ORPHA:3144 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... |
ORPHA:760 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Abnormal rib morphology, Missing ribs, Increased suscepti... |
ORPHA:2769 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs |
ORPHA:2519 |
| Trisomy 1Q |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Abnormal rib morphology, Short thorax, ... |
ORPHA:261344 |
| Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... |
OMIM:208500 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Prominent sternum, Thin ribs, Flexion contracture, Anterior rib cupping, Thoracic kyphosis |
OMIM:300232 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Decreased skull ossification, Thin ribs |
OMIM:602361 |
| Cartilage-Hair Hypoplasia |
|
Narrow chest, Failure to thrive, Abnormal bone ossification, Abnormally ossified vertebrae, Pectu... |
ORPHA:175 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Sclerosis of skull base, Broad ribs |
OMIM:269300 |
| Schwartz-Jampel Syndrome |
|
Sprengel anomaly, Joint stiffness, Hip contracture, Pectus excavatum, Decreased body weight, Incr... |
ORPHA:800 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae |
ORPHA:3301 |
| Juberg-Hayward Syndrome |
|
Abnormal rib morphology, Radioulnar synostosis |
ORPHA:2319 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Long clavicles, Flexion contracture, Inguinal hernia, Bell-shaped thorax, Omphalocele |
OMIM:608149 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Cachexia |
ORPHA:93941 |
| Meier-Gorlin Syndrome 1 |
|
Failure to thrive, Joint contracture of the hand, Flexion contracture, Abnormal rib cage morpholo... |
OMIM:224690 |
| Cenani-Lenz Syndrome |
|
Synostosis of carpal bones, Synostosis of joints, Abnormal rib morphology, Radioulnar synostosis,... |
ORPHA:3258 |
| Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Short toe, Inguinal hernia, Short ribs, Short humerus, Brachydact... |
|
