Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Spermatogenic Failure 65 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619712 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 56 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619515 |
Spermatogenic Failure 50 |
|
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... |
ORPHA:529970 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... |
OMIM:301059 |
Spermatogenic Failure 58 |
|
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 54 |
|
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... |
OMIM:619379 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 39 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... |
OMIM:618643 |
Spermatogenic Failure 7 |
|
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:620196 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... |
OMIM:619177 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
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 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism,... |
ORPHA:261529 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... |
OMIM:618433 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Arthrogryposis, Distal, Type 11 |
|
Camptodactyly, Limited pronation/supination of forearm, Calcaneovalgus deformity, Rocker bottom f... |
OMIM:620019 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Cryptorchidism, Premature ovarian insufficiency, Micropenis, Smal... |
ORPHA:1916 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... |
OMIM:614840 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Osebold-Remondini Syndrome |
|
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia... |
OMIM:112910 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia |
ORPHA:48 |
Vertical Talus, Congenital |
|
Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot |
OMIM:192950 |
Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... |
ORPHA:983 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... |
ORPHA:52901 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Cryptorchidism, Abnormal morphology of... |
ORPHA:754 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... |
OMIM:146110 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... |
OMIM:228300 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... |
ORPHA:320391 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... |
ORPHA:753 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp... |
ORPHA:752 |
Tarsal-Carpal Coalition Syndrome |
|
Short finger, Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, ... |
OMIM:186570 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Dec... |
OMIM:308700 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:301077 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... |
ORPHA:99429 |
Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Decreased circulating follicle... |
OMIM:308750 |
Smith-Mccort Dysplasia 2 |
|
Broad metatarsal, Limited elbow extension, Flattened epiphysis, Short metatarsal, Flat acetabular... |
OMIM:615222 |
Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
Congenital Vertical Talus |
|
Achilles tendon contracture, Rocker bottom foot, Equinus calcaneus, Distal arthrogryposis |
ORPHA:178382 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
Arthrogryposis, Distal, Type 1A |
|
Camptodactyly, Congenital hip dislocation, Calcaneovalgus deformity, Overlapping toe, Absent dist... |
OMIM:108120 |
Proximal Symphalangism |
|
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... |
ORPHA:3250 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal ilium morphology, Abnormal humeral diaphysis morphology, Pr... |
ORPHA:83468 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... |
OMIM:611377 |
Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Male infertility, Short sperm flagella |
OMIM:620197 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... |
ORPHA:8 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Disproportionate short-trunk short stature, Reduced sperm motility, Short stature |
OMIM:602271 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Hip dislocation, Abnormality of the fifth metatarsal bone, Latera... |
OMIM:311300 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Decreased testicular size, Premature ovarian insufficiency, Primary amen... |
OMIM:612885 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
46,Xy Sex Reversal 1 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male,... |
OMIM:400044 |
Aromatase Deficiency |
|
Cryptorchidism, Eunuchoid habitus, Primary amenorrhea, Obesity, Hypergonadotropic hypogonadism, F... |
ORPHA:91 |
Fatco Syndrome |
|
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... |
ORPHA:2492 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... |
ORPHA:2639 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Absent phalangeal crease, Distal arthrogry... |
OMIM:601680 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Short stature, Hypogonadism, Growth delay |
OMIM:618165 |
Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Ciliary Dyskinesia, Primary, 12 |
|
Immotile sperm, Reduced sperm motility, Short stature, Abnormal central microtubular pair morphol... |
OMIM:612650 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Classic Galactosemia |
|
Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,... |
ORPHA:79239 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Short stature, Abnormal central microtubular pair morphology of respirato... |
OMIM:612649 |
Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia... |
ORPHA:2756 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Perineal hypospadias, Fused labia minora, Micropenis, Ambiguous genitalia, Gonadoblastoma, Epispa... |
ORPHA:325345 |
Acrootoocular Syndrome |
|
Short finger, Grayish enamel, Small for gestational age, Small thenar eminence, Decreased palmar ... |
ORPHA:2980 |
Symphalangism, Proximal, 1A |
|
Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, Metacarpophala... |
OMIM:185800 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity, Arthrogryposis multiplex congenita |
OMIM:162370 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... |
ORPHA:1772 |
Three M Syndrome 3 |
|
Small for gestational age, Hip dysplasia, Slender long bone, Prominent calcaneus, Decreased body ... |
OMIM:614205 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Dyggve-Melchior-Clausen Disease |
|
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... |
OMIM:223800 |
Lead Poisoning |
|
Abnormal sperm morphology, Delayed puberty, Small for gestational age, Reduced sperm motility, De... |
ORPHA:330015 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy, Growth delay |
OMIM:613987 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 15 |
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Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... |
ORPHA:457395 |
Tarsal Coalition |
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Tarsal synostosis |
OMIM:186850 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypogonadotropic hypogo... |
ORPHA:465508 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Metaphyseal chondrodysplasia, Short palm, Abnormality of the calcaneus, Hypoplastic iliac wing, S... |
ORPHA:163966 |
Ciliary Dyskinesia, Primary, 22 |
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Infertility, Reduced sperm motility, Absent inner and outer dynein arms |
OMIM:615444 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
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Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Enthesitis, Finger... |
ORPHA:85438 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
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Camptodactyly, Inguinal hernia, Calcaneovalgus deformity, Umbilical hernia, Knee flexion contract... |
OMIM:616266 |
Aarskog-Scott Syndrome |
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Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... |
OMIM:305400 |
Mesomelic Dysplasia, Kantaputra Type |
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Carpal synostosis, Tarsal synostosis, Radial bowing |
OMIM:156232 |
Ciliary Dyskinesia, Primary, 9 |
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Absent outer dynein arms, Male infertility |
OMIM:612444 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
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Calcaneovalgus deformity, Atrophic scars, Inguinal hernia |
OMIM:225320 |
Woodhouse-Sakati Syndrome |
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Delayed puberty, Decreased testicular size, Premature ovarian insufficiency, Micropenis, Hypogona... |
ORPHA:3464 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligosper... |
ORPHA:85450 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Small for gestational age, Congenital hip dislocation, Calcaneovalgus deformity, Rocker bottom fo... |
ORPHA:3078 |
Wolfram Syndrome 1 |
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Testicular atrophy, Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Growth delay |
OMIM:222300 |
Weaver Syndrome |
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Inguinal hernia, Calcaneovalgus deformity, Broad thumb, Single transverse palmar crease, Large ha... |
OMIM:277590 |
Carney Complex |
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Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... |
ORPHA:1359 |
Renal Cysts And Diabetes Syndrome |
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Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Atretic vas ... |
OMIM:137920 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Reduced sperm motility |
OMIM:615434 |
Fanconi Anemia, Complementation Group A |
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Small for gestational age, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Male in... |
OMIM:227650 |
Three M Syndrome 2 |
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Small for gestational age, Slender long bone, Scapular winging, Prominent calcaneus, Short 5th fi... |
OMIM:612921 |
46,Xx Sex Reversal 2 |
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Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... |
OMIM:278850 |
Silver-Russell Syndrome |
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Abnormal appendicular skeleton morphology, Obesity, Failure to thrive in infancy, Cachexia, Abnor... |
ORPHA:813 |
X-Linked Intellectual Disability, Hedera Type |
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Calcaneovalgus deformity, Hyporeflexia of upper limbs, Obesity |
ORPHA:93952 |
Ciliary Dyskinesia, Primary, 5 |
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Reduced sperm motility |
OMIM:608647 |
Larsen-Like Syndrome |
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Clinodactyly of the 5th finger, Radial deviation of the 4th finger, Bipartite calcaneus, Talipes ... |
OMIM:608545 |
Ciliary Dyskinesia, Primary, 19 |
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Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... |
OMIM:157640 |
Diphallia |
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Rectoperineal fistula, Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Bifid ... |
ORPHA:227 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Inguinal hernia, Hip dislocation, Hallux valgus, Ventral hernia, Umbilical hernia, Widened atroph... |
ORPHA:536532 |
Primary Ciliary Dyskinesia |
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Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Arthrogryposis, Distal, Type 5D |
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Camptodactyly, Congenital hip dislocation, Calcaneovalgus deformity, Adducted thumb, Limited elbo... |
OMIM:615065 |
Tibial Hemimelia |
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Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty... |
ORPHA:93322 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Reduced progressive sperm motility |
OMIM:619608 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Short stature |
OMIM:300322 |
Acitretin/Etretinate Embryopathy |
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Abnormality of the calcaneus, Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/hypo... |
ORPHA:40366 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pheochromocytoma, Paraganglioma, Papillary cystadenoma of the epididymi... |
OMIM:193300 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
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Absent phalangeal crease, Inguinal hernia, Hallux valgus, Calcaneovalgus deformity, Recurrent sho... |
ORPHA:230851 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Bilateral talipes equinovarus, Abnormal hip bone morphology, Slender finger, Broad thumb, Promine... |
ORPHA:251028 |
Ataxia-Telangiectasia |
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Hypoplasia of the thymus, Delayed puberty, Diabetes mellitus, Short stature, Failure to thrive, F... |
OMIM:208900 |
Bloom Syndrome |
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Premature ovarian insufficiency, Small for gestational age, Severe postnatal growth retardation, ... |
ORPHA:125 |
Chromosome 2P16.1-P15 Deletion Syndrome |
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Camptodactyly, Calcaneovalgus deformity, Metatarsus adductus, Arachnodactyly, Joint contracture o... |
OMIM:612513 |
Autosomal Dominant Polycystic Kidney Disease |
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Pituitary growth hormone cell adenoma, Reduced sperm motility, Pancreatic cysts |
ORPHA:730 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Short tibia, Epiphyseal stippling, Interphalangeal joint contracture of finger, Single transverse... |
ORPHA:96334 |
Larsen Syndrome |
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Elbow dislocation, Hip dislocation, Spatulate thumbs, Multiple carpal ossification centers, Short... |
OMIM:150250 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Prominent calcaneus, Congenital foot contractures |
ORPHA:565624 |
Ciliary Dyskinesia, Primary, 1 |
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Absent outer dynein arms, Male infertility |
OMIM:244400 |
Von Hippel-Lindau Disease |
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Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm of the pancreas, P... |
ORPHA:892 |
Mitochondrial Trifunctional Protein Deficiency |
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Equinus calcaneus, Failure to thrive in infancy |
ORPHA:746 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Short stature, Hypospadias |
ORPHA:3063 |
Kid Syndrome |
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Coxa valga, Knee flexion contracture, Patellar hypoplasia, Failure to thrive, Palmoplantar kerato... |
ORPHA:477 |
Noonan Syndrome 1 |
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Cryptorchidism, Hypogonadism, Failure to thrive in infancy, Short stature, Male infertility, Post... |
OMIM:163950 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Calcaneovalgus deformity, Abnormality of the palmar creases, Long fingers, Tapered finger |
ORPHA:521445 |
Floating-Harbor Syndrome |
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Cryptorchidism, Short stature, Varicocele, Glandular hypospadias, Epididymal cyst, Hypospadias |
OMIM:136140 |
Floating-Harbor Syndrome |
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Small for gestational age, Cryptorchidism, Short stature, Varicocele, Epididymal cyst, Growth del... |
ORPHA:2044 |
Cystinosis, Nephropathic |
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Delayed puberty, Diabetes mellitus, Failure to thrive in infancy, Short stature, Growth delay, Ma... |
OMIM:219800 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Equinus calcaneus, 2-3 toe syndactyly, Progressive flexion contractures, Bilateral talipes equino... |
ORPHA:522077 |
Steinert Myotonic Dystrophy |
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Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... |
ORPHA:273 |
Marfan Syndrome |
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Limited elbow extension, Camptodactyly, Incisional hernia, Arachnodactyly, Reduced subcutaneous a... |
OMIM:154700 |
Neu-Laxova Syndrome 1 |
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Camptodactyly, Yellow subcutaneous tissue covered by thin, scaly skin, Calcaneovalgus deformity, ... |
OMIM:256520 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Small for gestational age, Slender build, Calcaneovalgus deformity, Prominent fingertip pads, Ara... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Small for gestational age, Slender build, Calcaneovalgus deformity, Prominent fingertip pads, Ara... |
ORPHA:363958 |
Cystic Fibrosis |
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Male infertility, Failure to thrive |
OMIM:219700 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Camptodactyly, Hallux valgus, Calcaneovalgus deformity, Ulnar deviation of the hand, Syndactyly, ... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Camptodactyly, Hallux valgus, Calcaneovalgus deformity, Ulnar deviation of the hand, Syndactyly, ... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Camptodactyly, Hallux valgus, Calcaneovalgus deformity, Ulnar deviation of the hand, Syndactyly, ... |
ORPHA:261552 |