| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
| Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
| Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
| Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| 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 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| 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 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
| Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
| Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
| 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 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
| Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
| 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 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
| 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 50 |
|
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
| Isochromosomy Yp |
|
Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia |
ORPHA:98797 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... |
OMIM:618433 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| 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 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 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Varicocele, Azoospermia, Gonadal tissue inappropr... |
ORPHA:98798 |
| 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 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Spermatogenic Failure 77 |
|
Cryptorchidism, Elevated circulating follicle stimulating hormone level, Azoospermia, Multiflagel... |
OMIM:620103 |
| 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 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
| Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility |
OMIM:108420 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
| 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 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia |
ORPHA:48 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... |
OMIM:201250 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing |
OMIM:246570 |
| Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Oligospermia |
OMIM:615703 |
| Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... |
OMIM:200700 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... |
OMIM:118651 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... |
ORPHA:52901 |
| Osebold-Remondini Syndrome |
|
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Mesomelia, Broad finger, ... |
OMIM:112910 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Micromelia, Aplasia/Hyp... |
ORPHA:2098 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... |
OMIM:249700 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
| Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... |
ORPHA:320391 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Male infertility, Short sperm flagella |
OMIM:620197 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Infertility, Azoospermia, Elevated c... |
OMIM:229070 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... |
ORPHA:1972 |
| Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... |
OMIM:127300 |
| Spermatogenic Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:615842 |
| 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 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... |
OMIM:605274 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... |
ORPHA:240 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
| Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... |
ORPHA:2768 |
| Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:301077 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... |
OMIM:135750 |
| Fibular Hemimelia |
|
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... |
ORPHA:93323 |
| Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
| Endove Syndrome, Limb-Only Type |
|
3-4 finger syndactyly, Triangular tibia, Disproportionate shortening of the tibia, Short middle p... |
OMIM:619217 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increased circulating gonadotropin level, Ma... |
ORPHA:8 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... |
OMIM:612447 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Adrenal Hypoplasia, Congenital |
|
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty |
OMIM:300200 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... |
ORPHA:988 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand |
OMIM:228250 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... |
OMIM:614837 |
| Functioning Gonadotropic Adenoma |
|
Pituitary gonadotropic cell adenoma, Decreased female libido, Isosexual precocious puberty, Decre... |
ORPHA:91348 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... |
OMIM:612576 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Hemochromatosis, Type 2A |
|
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism |
OMIM:602390 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... |
ORPHA:93356 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... |
ORPHA:1916 |
| Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... |
ORPHA:2756 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Elevated circu... |
OMIM:228300 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Oligomenorrhea, Hyperpituitarism, Hypogonadism, Increased circulating prolactin concentration, Ne... |
ORPHA:91351 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Azoospermia |
OMIM:614897 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
| Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... |
ORPHA:93322 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... |
OMIM:119100 |
| Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of female internal ... |
ORPHA:754 |
| Acromesomelic Dysplasia 2B |
|
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... |
OMIM:228900 |
| Partial Androgen Insensitivity Syndrome |
|
Perineal hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Ambiguous genit... |
ORPHA:90797 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 12 |
|
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... |
OMIM:612650 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... |
ORPHA:85170 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodactyly, Fibular... |
OMIM:201170 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Cough, Decreased nasal nitric oxide, Bronchiectasis, Male infertil... |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous ge... |
ORPHA:261519 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Acheiropodia |
|
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... |
ORPHA:931 |
| Fatco Syndrome |
|
Absent hand, Abnormality of fibula morphology, Respiratory insufficiency, Finger syndactyly, Abno... |
ORPHA:2492 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... |
OMIM:113310 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
| 48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulating hormone level,... |
ORPHA:251510 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Micrognathia,... |
OMIM:258860 |
| Lead Poisoning |
|
Abnormal sperm morphology, Decreased male libido, Decreased female libido, Infertility, Abnormali... |
ORPHA:330015 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... |
OMIM:400045 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Short toe, ... |
ORPHA:79106 |
| Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Oligospermia, Hypogonadism |
OMIM:602668 |
| 46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... |
OMIM:278850 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Azoospermia, Decreased response to growth hormone stimulation test, Decreased testicular size, Hy... |
ORPHA:280679 |
| Ring Chromosome 21 Syndrome |
|
Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Azoospermia, Small scr... |
OMIM:308700 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Oligomenorrhea, Adrenal hyperplasia, Ambiguous genitalia, Infertility, Female pseudohermaphroditi... |
ORPHA:786 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Bo... |
ORPHA:3344 |
| Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Hip dislocation, Absent radius, Laryngotracheomalacia, Respiratory in... |
ORPHA:56305 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... |
ORPHA:85188 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Primary amenorrhe... |
ORPHA:432 |
| 49,Xyyyy Syndrome |
|
Decreased testicular size, External genital hypoplasia, Abnormality of the testis size, Azoosperm... |
ORPHA:99330 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Chronic sinusitis, Cough, Chronic rhinitis, Decreased nasal nitric... |
OMIM:612444 |
| Acromesomelic Dysplasia 3 |
|
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L... |
OMIM:609441 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal long bone morphology, Polydactyly, Short tibia, Micromelia, Respiratory failure, Cone-sh... |
ORPHA:1505 |
| Stuve-Wiedemann Syndrome 1 |
|
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... |
OMIM:601559 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... |
ORPHA:166016 |
| Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
| Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, Short tibia, Toe syndactyly, Recurrent aspiration pneumonia |
OMIM:258865 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility, Absent inner and outer dynein arms |
OMIM:615444 |
| Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Prima... |
ORPHA:99429 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia |
ORPHA:85450 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hip dislocation, Short thumb, Proximal placement of thumb, Tibial deviation of toes, Short tibia,... |
OMIM:268305 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Fibular hypoplasia, Hypoplasia... |
ORPHA:2634 |
| Laurin-Sandrow Syndrome |
|
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Aplasia/Hypoplasia of the thumb... |
ORPHA:2378 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea |
OMIM:235200 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short ribs, Rhizomelia, Short tibia, Short femur, Respiratory distress, Recurrent ... |
OMIM:607143 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Micromelia, Humerora... |
OMIM:251230 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Short tibia, Toe syndactyly, Broad thumb, Tibial bowing, Foot oligodactyly, Post... |
ORPHA:1106 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Abnormal long bone morphology, Short tibia, Coxa valga, Metatarsus adduc... |
ORPHA:356961 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Congenital adrenal hyperplasia, Decreased testicular size, Cryptorchidism, Penoscrotal hypospadia... |
ORPHA:90791 |
| Gapo Syndrome |
|
Dysmenorrhea, Oligospermia, Amenorrhea, Hypogonadism |
ORPHA:2067 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short thumb, Hypoplasia of the radius, Talipes, Short 5th finger, Hypoplasia of the ulna, Microgn... |
OMIM:227270 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Delayed epip... |
OMIM:600785 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Short lower limbs, Short ribs, Short tibia, Hypoplastic acetabulae, Ulnar b... |
OMIM:620076 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Ulnar bowing, Coxa vara, Flared... |
OMIM:602111 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Elevated circulating luteinizing hormone level, Micropenis, Prima... |
ORPHA:90793 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
| Grant Syndrome |
|
Down-sloping shoulders, Tibial bowing, Micrognathia |
OMIM:138930 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial foot polydactyly, Mirr... |
OMIM:119800 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Rhizomelia, Short tibia, Short... |
OMIM:616300 |
| Classic Galactosemia |
|
Oligomenorrhea, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, ... |
ORPHA:79239 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... |
OMIM:609945 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Oligospermia, Breast hypoplasia |
OMIM:614813 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Short ribs, Postaxia... |
OMIM:613091 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Decreased res... |
OMIM:300845 |
| Shox-Related Short Stature |
|
Forearm undergrowth, Lower limb undergrowth, Micrognathia, Short foot, Genu valgum, Ulnar radial ... |
ORPHA:314795 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral cryptorchidism, Male in... |
ORPHA:1772 |
| Femoral-Facial Syndrome |
|
Abnormality of fibula morphology, Hip dysplasia, Micrognathia, Preaxial foot polydactyly, Short f... |
ORPHA:1988 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short finger, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal widening, Rhizomelia, S... |
OMIM:608940 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Hypogonadism |
ORPHA:300298 |
| Aromatase Deficiency |
|
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Male infe... |
ORPHA:91 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Shoulder dislo... |
OMIM:171480 |
| Orofaciodigital Syndrome Type 2 |
|
Hand polydactyly, Y-shaped metacarpals, Tachypnea, Limb undergrowth, Polysyndactyly of hallux, Sh... |
ORPHA:2751 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Small pituitary gland, Hypergon... |
ORPHA:2232 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Micrognath... |
ORPHA:3320 |
| Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Mesomelia, Radial bowing, Fibular hypoplasia, Lateral humeral condyle aplasia |
OMIM:164900 |
| Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
| Acromelic Frontonasal Dysostosis |
|
Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, Patellar hypoplasia, Preaxial foot po... |
OMIM:603671 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Omodysplasia 1 |
|
Short humerus, Anterolateral radial head dislocation, Rhizomelia, Short tibia, Micrognathia, Hypo... |
OMIM:258315 |
| 8P11.2 Deletion Syndrome |
|
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Azoospermia, Hypogonadotropic hypogonadism |
ORPHA:251066 |
| Carney Complex |
|
Testicular adrenal rest tumor, Elevated circulating growth hormone concentration, Abnormal morpho... |
ORPHA:1359 |
| Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Cryptorchidism, Leydig cell neoplasia, Azoospermia, Precocious pub... |
ORPHA:361 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Epiphyseal stippling, Interphalangeal joint contracture of finger, Respiratory failu... |
ORPHA:96334 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly, Coalescence of tarsal bones |
OMIM:165590 |
| Bloom Syndrome |
|
Azoospermia, Premature ovarian insufficiency, Oligospermia, Male infertility |
ORPHA:125 |
| Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... |
OMIM:206920 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, Increased size of the clitoris, Cryptorchidism, Micropenis, Ambiguous genita... |
ORPHA:95699 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Short tibia, Short long bone, Fibular hy... |
OMIM:617925 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Short ribs, Postaxial polysyndactyly of foot, Disproportionate shorteni... |
OMIM:263520 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Abnormal pelvic girdle bone morphology, Microretrognathia, Radioulnar synostos... |
ORPHA:1788 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Hypoplasia of the uterus, Epididymal cyst, Atretic vas deferens, Bicornuat... |
OMIM:137920 |
| Eiken Syndrome |
|
Broad metatarsal, Clinodactyly, Flattened epiphysis, Long thumb, Flat acetabular roof, Delayed os... |
OMIM:600002 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia |
ORPHA:228123 |
| Omodysplasia 2 |
|
Short humerus, Dyspareunia, Dislocated radial head, Broad femoral neck, Micrognathia, Fibular hyp... |
OMIM:164745 |
| Atelosteogenesis, Type I |
|
Clubbing, Rhizomelia, Short metatarsal, Knee dislocation, Fibular aplasia, Multinucleated giant c... |
OMIM:108720 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Reduced sperm motility, Pancreatic cysts |
ORPHA:730 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing |
OMIM:114000 |
| Diphallia |
|
Rectoperineal fistula, Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Bifid ... |
ORPHA:227 |
| Muscular Dystrophy, Duchenne Type |
|
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Knee flexion co... |
OMIM:310200 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Short metatars... |
OMIM:618150 |
| Boomerang Dysplasia |
|
Fibular aplasia, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
| Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... |
OMIM:211350 |
| Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogonadism, Hypoplasia ... |
ORPHA:3464 |
| Acro-Renal-Mandibular Syndrome |
|
Hip dislocation, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypoplasia of... |
ORPHA:958 |
| Campomelic Dysplasia |
|
Tracheomalacia, Hip dislocation, Hypoplastic inferior ilia, Respiratory insufficiency, Bowing of ... |
ORPHA:140 |
| Bloom Syndrome |
|
Azoospermia, Decreased fertility in females, Cryptorchidism |
OMIM:210900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Breathing dysregulation, Hypoventilation |
OMIM:618232 |
| Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Aplasia/Hypoplasia of the mandible, Femoral bowing, Fibular bowing,... |
ORPHA:85165 |
| Fibrochondrogenesis 1 |
|
Camptodactyly, Short ribs, Posterior vertebral hypoplasia, Rhizomelia, Hypoplastic scapulae, Broa... |
OMIM:228520 |
| Tetrasomy 9P |
|
Polymicrogyria, Cryptorchidism, Micropenis, Infertility, Pachygyria, Absent gallbladder, Lissence... |
ORPHA:3310 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epididymis, Epididymal c... |
OMIM:193300 |
| Occipital Horn Syndrome |
|
Down-sloping shoulders, Pes planus, Hip dislocation, Hip dysplasia, Abnormality of fibula morphol... |
ORPHA:198 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Upper airway obs... |
ORPHA:1827 |
| Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Foot oligodactyly, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia invo... |
ORPHA:2879 |
| Postpoliomyelitis Syndrome |
|
Respiratory insufficiency, Hypoventilation |
ORPHA:2942 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Pes planus, Stridor, Hypoventilation, Apnea |
OMIM:617143 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hand polydactyly, Early ossification of capital femoral epiphyses, Respiratory insufficiency, Sho... |
OMIM:208500 |
| Perry Syndrome |
|
Respiratory insufficiency, Respiratory arrest, Hypoventilation, Central hypoventilation |
OMIM:168605 |
| Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Hip dislocation, Shortening of all phalanges of fingers,... |
OMIM:114290 |
| Acrorenal-Mandibular Syndrome |
|
Hand polydactyly, Hip dislocation, Missing ribs, Hypoplastic scapulae, Foot polydactyly, Microgna... |
OMIM:200980 |
| Prader-Willi Syndrome |
|
Oligomenorrhea, Hip dysplasia, Primary amenorrhea, Syndactyly, Hypoventilation, Infertility, Slee... |
OMIM:176270 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Patellar dislocation, Carpal synostosis, Fibular aplasia, Broad thu... |
OMIM:274000 |
| Mesomelia-Synostoses Syndrome |
|
Distal femoral bowing, Short metatarsal, Tarsometatarsal synostosis, Carpometacarpal synostosis, ... |
OMIM:600383 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Aspiration pneumonia, Polydactyly, Hypoventilation, Apnea, Respiratory distress, Recurrent pneumo... |
ORPHA:314655 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Hypoplastic vertebral bodies, Dumbb... |
ORPHA:3144 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Hip dislocation, Distal lower limb muscle weakness, Absent patella... |
ORPHA:70 |
| Bethlem Myopathy |
|
Camptodactyly of finger, Reduced maximal expiratory pressure, Hypoventilation, Achilles tendon co... |
ORPHA:610 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Finger joint hypermobility, Hypoventilation, Sleep apnea, Recurrent pneumonia, Hip contracture, G... |
OMIM:618493 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypercapnia, Hypoxemia, Hypoventilation, Central hypoventilation, Apnea, Nocturnal hypoventilation |
OMIM:209880 |
| Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormality of the knee, Respirat... |
ORPHA:98915 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of metatarsal bones, Hip dislocati... |
OMIM:276820 |
| Hydrolethalus Syndrome 1 |
|
Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper limb undergrowth, Micrognathi... |
OMIM:236680 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Adrenal pheochromocytoma, Papillary cyst... |
ORPHA:892 |
| Otopalatodigital Syndrome, Type Ii |
|
Short thumb, Short metatarsal, Rocker bottom foot, Toe syndactyly, Broad thumb, Short hallux, Res... |
OMIM:304120 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Overlapping fingers |
OMIM:606056 |
| Cystic Fibrosis |
|
Chronic sinusitis, Decreased forced expiratory flow 25-75%, Reduced forced expiratory volume in o... |
OMIM:219700 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation, Micrognathia |
OMIM:620155 |
| Mogs-Cdg |
|
Respiratory distress, Apnea, Hypoventilation, Overlapping fingers |
ORPHA:79330 |
| Floating-Harbor Syndrome |
|
Cryptorchidism, Varicocele, Glandular hypospadias, Epididymal cyst, Hypospadias |
OMIM:136140 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Hip dysplasia, Respiratory insufficiency, Pes cavus, Pes valgus, Hypoventilation, Abnormal foot m... |
ORPHA:99949 |
| Osteopathia Striata With Cranial Sclerosis |
|
Osteopathia striata, Camptodactyly, Tracheomalacia, Paranasal sinus hypoplasia, Flexion contractu... |
OMIM:300373 |
| Noonan Syndrome 1 |
|
Cryptorchidism, Male infertility, Hypogonadism, Hypospadias |
OMIM:163950 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the mandible, Finger syndactyly, Micro... |
ORPHA:2753 |
| Kinsship Syndrome |
|
Hip dislocation, Polydactyly, Dislocated radial head, Coxa valga, Mesomelia, Micrognathia, Pes pl... |
OMIM:619297 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Aspiration, Pulmonary arterial hypertension, Respiratory insufficiency, Intercostal muscle weakne... |
ORPHA:258 |
| Cranioectodermal Dysplasia 1 |
|
Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Flattened e... |
OMIM:218330 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Abnormal forearm bone morphology, Phocomelia, Short ribs, Hypoplasia of the radius... |
ORPHA:3404 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Male infertility |
OMIM:219800 |
| Floating-Harbor Syndrome |
|
Cryptorchidism, Varicocele, Epididymal cyst, Hypospadias, Precocious puberty |
ORPHA:2044 |
| Alström Syndrome |
|
Decreased testicular size, Micropenis, Polycystic ovaries, Precocious puberty in females, Testicu... |
ORPHA:64 |
| Charge Syndrome |
|
Down-sloping shoulders, Hand polydactyly, Absent radius, Absent tibia, Bilateral talipes equinova... |
OMIM:214800 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Aspiration pneumonia, Hypopnea, Restrictive ventilatory defect, Hypoventilation, Apnea |
OMIM:619482 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Tracheomalacia, Hypoplasia of proximal rad... |
ORPHA:444077 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cardiorespiratory arrest, Hypoventilation, Central hypoventilation, Obstructive sleep apnea, Asth... |
ORPHA:293987 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation |
OMIM:203700 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Hypoventilation, Recurrent pneumonia, Respiratory failure, Micrognathia |
ORPHA:731 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Aspiration pneumonia, Hip dysplasia, Central sleep apnea, Hypoventilation, Apnea, Obstructive sle... |
ORPHA:438213 |
