Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
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 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia |
OMIM:615703 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin ... |
ORPHA:8 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Holoprosencephaly |
OMIM:300706 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... |
OMIM:615751 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia |
ORPHA:35710 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Increased ... |
ORPHA:90791 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Diabetes insipidus, Polyuria, Megacystis |
OMIM:304800 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Nephrogenic diabetes insipidus, Functional abnormality of the b... |
ORPHA:223 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt... |
OMIM:614736 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Lacticaciduria, Hyperammonemia, Hy... |
ORPHA:3008 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... |
ORPHA:330015 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... |
ORPHA:556037 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... |
ORPHA:97362 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration |
OMIM:615508 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... |
ORPHA:556030 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Mirage Syndrome |
|
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Hy... |
OMIM:617053 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... |
OMIM:610600 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Hartsfield Syndrome |
|
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insipidus |
OMIM:615465 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... |
OMIM:264350 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Decreased circ... |
OMIM:203400 |
Central Diabetes Insipidus |
|
Hyponatremia, Diabetes insipidus, Nocturia |
ORPHA:178029 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... |
ORPHA:95512 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
Primary Ciliary Dyskinesia |
|
Male infertility, Hydrocephalus, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto... |
OMIM:604317 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent tonsillitis, Hyper... |
ORPHA:171876 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... |
ORPHA:90790 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... |
ORPHA:2470 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism |
OMIM:613730 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... |
OMIM:619381 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism |
ORPHA:363741 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... |
OMIM:613845 |
Cofs Syndrome |
|
Microphthalmia, Hypogonadism |
ORPHA:1466 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside leve... |
OMIM:608688 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... |
ORPHA:79273 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:85138 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Pierpont Syndrome |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:602342 |
Snakebite Envenomation |
|
Hyponatremia, Hypopituitarism, Acute kidney injury |
ORPHA:449285 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, External genital hypoplasia, Cryptorchidism |
OMIM:600118 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:487825 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, ... |
ORPHA:85284 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Optic nerve hypoplasia |
OMIM:620157 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... |
ORPHA:2239 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone ma... |
ORPHA:549 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... |
ORPHA:199296 |
Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
OMIM:603553 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthalmia, Enlarged kidney |
OMIM:613885 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... |
OMIM:618183 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insuffi... |
ORPHA:199299 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism |
OMIM:601349 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
Whipple Disease |
|
Hyponatremia, Splenomegaly, Mediastinal lymphadenopathy, Erectile dysfunction, Hypothyroidism |
ORPHA:3452 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased urinary porphobilinogen, In... |
ORPHA:100924 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... |
OMIM:617913 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d... |
ORPHA:1667 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Joubert Syndrome 37 |
|
Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis, Hydronephrosis |
OMIM:619185 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Familial Hypoaldosteronism |
|
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Renal insufficiency,... |
ORPHA:95409 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia |
OMIM:120433 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... |
ORPHA:31824 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen |
OMIM:602361 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Microphthalmia, Micropenis, Decreased testicular size |
ORPHA:335 |
Congenital Toxoplasmosis |
|
Microphthalmia, Lymphadenopathy |
ORPHA:858 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... |
ORPHA:79473 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Trisomy 13 |
|
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Abnormality of the ureter, Apl... |
ORPHA:3378 |
Cat-Eye Syndrome |
|
Microphthalmia, Hydronephrosis |
ORPHA:195 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Anophthalmia, Diabetes mellitus, Proteinuria, Abnormality of t... |
ORPHA:2162 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia |
OMIM:614813 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Hydroureter |
ORPHA:2547 |
Cholera |
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Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Alg12-Cdg |
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Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Hypoalbu... |
ORPHA:79324 |
Developmental And Epileptic Encephalopathy 1 |
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Microphthalmia, Micropenis |
OMIM:308350 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Facial Clefting, Oblique, 1 |
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Microphthalmia |
OMIM:600251 |
Oculogastrointestinal Neurodevelopmental Syndrome |
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Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Microphthalmia |
OMIM:614830 |
Cataract 9, Multiple Types |
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Microphthalmia |
OMIM:604219 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hydronephrosis |
OMIM:618494 |
Herpes Simplex Virus Encephalitis |
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Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Seckel Syndrome 2 |
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Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Warburg Micro Syndrome 4 |
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Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:615663 |
Generalized Pustular Psoriasis |
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Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... |
ORPHA:247353 |
Congenital Varicella Syndrome |
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Microphthalmia |
ORPHA:291 |
Microphthalmia, Isolated 5 |
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Microphthalmia |
OMIM:611040 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Ambiguous genitalia, Microphthalmia |
ORPHA:93267 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Microphthalmia |
OMIM:615771 |
Microphthalmia, Syndromic 5 |
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Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... |
OMIM:610125 |
Autosomal Recessive Primary Microcephaly |
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Short stature, Microcephaly, Growth delay, Hypoplasia of the frontal lobes, Pachygyria, Agenesis ... |
ORPHA:2512 |
Bloom Syndrome |
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Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia |
ORPHA:125 |
Joubert Syndrome 22 |
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Microphthalmia, Renal hypoplasia |
OMIM:615665 |
Microphthalmia, Syndromic 13 |
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Microphthalmia |
OMIM:300915 |
Bartter Syndrome Type 4 |
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Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
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Microphthalmia |
OMIM:610023 |
Moebius Syndrome |
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Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:157900 |
Craniotelencephalic Dysplasia |
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Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613155 |
Rabin-Pappas Syndrome |
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Hyponatremia, Optic nerve hypoplasia |
OMIM:620155 |
Fanconi Anemia, Complementation Group J |
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Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
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Microphthalmia |
OMIM:267760 |
Lissencephaly 8 |
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Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Neurooculocardiogenitourinary Syndrome |
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Bilateral cryptorchidism, Microphthalmia |
OMIM:618652 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
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Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism |
ORPHA:228390 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:77298 |
Congenital Rubella Syndrome |
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Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia, Type I diabetes mellitus |
ORPHA:290 |
Cerebrooculofacioskeletal Syndrome 1 |
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Microphthalmia, Cryptorchidism |
OMIM:214150 |
Fanconi Anemia, Complementation Group G |
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Microphthalmia |
OMIM:614082 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Hematuria, Microphthalmia |
ORPHA:1473 |
Microcephaly 20, Primary, Autosomal Recessive |
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Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Microphtha... |
OMIM:617914 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Fanconi Anemia, Complementation Group A |
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Male infertility, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Cryptorchidism, Pr... |
OMIM:227650 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Fused labia majora, Bifid scrotum, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Cerebrooculofacioskeletal Syndrome 2 |
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Microphthalmia, Micropenis, Small scrotum |
OMIM:610756 |
Shigellosis |
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Hyponatremia, Hemolytic-uremic syndrome, Urethritis, Abnormal blood ion concentration, Splenic ab... |
ORPHA:810 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... |
OMIM:602450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:615181 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Hypersplenism, Hyp... |
ORPHA:275761 |
Craniotelencephalic Dysplasia |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Absent outer dynein arms, Communicating hydrocephalus |
OMIM:244400 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:600776 |
Fanconi Anemia, Complementation Group I |
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Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Renal hypoplasia, ... |
OMIM:609053 |
Acute Intermittent Porphyria |
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Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr... |
ORPHA:79276 |
Rere-Related Neurodevelopmental Syndrome |
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Vesicoureteral reflux, Microphthalmia, Hypospadias, Cryptorchidism |
ORPHA:494344 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Microphthalmia |
ORPHA:324416 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Isosexual precocious puberty |
ORPHA:2788 |
Hydrolethalus |
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Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Warburg Micro Syndrome 3 |
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Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:614222 |
Fanconi Anemia, Complementation Group E |
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Hypergonadotropic hypogonadism, Short stature, Microcephaly, Cryptorchidism, Prolonged G2 phase o... |
OMIM:600901 |
Baraitser-Winter Syndrome 1 |
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Microphthalmia, Micropenis, Cryptorchidism |
OMIM:243310 |
Chédiak-Higashi Syndrome |
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Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
ORPHA:167 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Renal insufficiency, Hypersplenism, Splenomegaly, Biliary hyperplasia, Pancreatic c... |
ORPHA:731 |
Multiple Benign Circumferential Skin Creases On Limbs |
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Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
Marden-Walker Syndrome |
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Hypospadias, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis |
OMIM:248700 |
Microphthalmia With Brain And Digit Anomalies |
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Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:139471 |
Necrotizing Enterocolitis |
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Hyponatremia |
ORPHA:391673 |
Fanconi Anemia, Complementation Group C |
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Hypergonadotropic hypogonadism, Short stature, Microcephaly, Cryptorchidism, Prolonged G2 phase o... |
OMIM:227645 |
Infant Botulism |
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Hyponatremia |
ORPHA:178478 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Microphthalmia |
OMIM:619694 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Microphthalmia |
OMIM:251270 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Microphthalmia |
ORPHA:2728 |
Micro Syndrome |
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Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Delayed puber... |
ORPHA:2510 |
Ring Chromosome 10 Syndrome |
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Microphthalmia, Hypocalcemia |
ORPHA:1438 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated ... |
OMIM:614105 |
Fanconi Anemia, Complementation Group F |
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Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasia, Micropha... |
OMIM:603467 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Microphthalmia |
OMIM:602501 |
Fanconi Anemia, Complementation Group D2 |
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Hypergonadotropic hypogonadism, Short stature, Microcephaly, Cryptorchidism, Patent ductus arteri... |
OMIM:227646 |
Congenital Primary Aphakia |
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Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Temtamy Syndrome |
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Microphthalmia |
ORPHA:1777 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Microphthalmia, Hypoalbuminemia |
OMIM:618805 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Microphthalmia |
OMIM:300887 |
Warburg Micro Syndrome 2 |
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Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis |
OMIM:614225 |
Microphthalmia, Syndromic 11 |
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Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Subaortic Stenosis-Short Stature Syndrome |
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Microphthalmia, Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:3191 |
Walker-Warburg Syndrome |
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Hypoplasia of penis, Anophthalmia, Cryptorchidism, Abnormal circulating creatine kinase concentra... |
ORPHA:899 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Japanese Encephalitis |
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Hyponatremia, Inappropriate antidiuretic hormone secretion |
ORPHA:79139 |
Mosaic Trisomy 9 |
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Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple renal c... |
ORPHA:99776 |
Papillorenal Syndrome |
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Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... |
OMIM:120330 |
Tetraamelia-Multiple Malformations Syndrome |
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Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia |
ORPHA:3301 |
Liver Disease, Severe Congenital |
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Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla... |
OMIM:619991 |
Baraitser-Winter Syndrome 2 |
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Microphthalmia |
OMIM:614583 |
Tetrasomy 9P |
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Absent gallbladder, Cryptorchidism, Hydrocephalus, Oligozoospermia, Lissencephaly, Infertility, M... |
ORPHA:3310 |
Coccidioidomycosis |
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Abnormality of the endocrine system, Abnormality of the male genitalia, Hydrocephalus, Abnormal s... |
ORPHA:228123 |
Hartsfield Syndrome |
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Microphthalmia |
ORPHA:2117 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Renal hypoplasia, ... |
OMIM:601186 |
Pallister-Hall Syndrome |
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Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased response to grow... |
OMIM:146510 |
Encephalocraniocutaneous Lipomatosis |
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Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Microphthalmia, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Trichothiodystrophy 3, Photosensitive |
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Bilateral cryptorchidism, Microphthalmia |
OMIM:616395 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:611561 |
Familial Dysautonomia |
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Hyponatremia, Renal insufficiency |
ORPHA:1764 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism |
ORPHA:404440 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Renal hypoplasia |
OMIM:618914 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injur... |
ORPHA:544482 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility |
ORPHA:730 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Kapur-Toriello Syndrome |
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Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism |
OMIM:244300 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Microphthalmia, Micropenis |
OMIM:264480 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|