| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... |
ORPHA:755 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis, Dec... |
OMIM:614962 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... |
OMIM:616030 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... |
ORPHA:163976 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Unilateral renal agenesis, Sparse pubic hair, Decreased serum testosterone concent... |
OMIM:308700 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... |
ORPHA:52901 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... |
ORPHA:163971 |
| Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis |
ORPHA:85274 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... |
ORPHA:432 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficie... |
OMIM:308750 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentra... |
OMIM:300869 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Premature Ovarian Failure 2B |
|
Osteoporosis, Female infertility, Premature ovarian insufficiency, Primary amenorrhea |
OMIM:300604 |
| 49,Xxxyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:261534 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, External genital hypoplasia, Micropenis, Obesity |
OMIM:615983 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Obesity, Hypogonadotropic hypogonadism, Polyphagia, Hypopigmentation... |
ORPHA:177910 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... |
OMIM:618086 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:99330 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... |
ORPHA:90796 |
| Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicula... |
ORPHA:453533 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Sparse body hair, Hypogonadism, Decreased testicular size, Cryptorchidism, Tru... |
ORPHA:261483 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... |
OMIM:614840 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... |
OMIM:619761 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Renal cyst, Obesity, Renal insufficiency |
OMIM:615987 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... |
OMIM:614839 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... |
ORPHA:90797 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Inguinal hernia, Male infertility, Bila... |
OMIM:261550 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... |
ORPHA:2232 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... |
ORPHA:398079 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... |
OMIM:614963 |
| Schaaf-Yang Syndrome |
|
Hypogonadism, Failure to thrive in infancy, Obesity, Thick eyebrow, Cryptorchidism, Polyphagia, S... |
OMIM:615547 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, High anterior hairline, Obesity, Polycystic ovaries, Hirsutism, Overgrowt... |
OMIM:616831 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Polyphagia, Obesity |
ORPHA:329249 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Decreased fertility, Low posterior hairline, Abnormal hair quantity, Abnor... |
ORPHA:2233 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr... |
OMIM:620651 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Deafness, Congenital, With Total Albinism |
|
Hypogonadism, Albinism |
OMIM:220900 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Renal cyst |
OMIM:615982 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:98754 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... |
ORPHA:3085 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:98793 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Thick eyebrow, Cryptorchidism |
OMIM:309585 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:177904 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... |
ORPHA:177901 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| 47,Xyy Syndrome |
|
Varicocele, Tall stature, Azoospermia, Cryptorchidism, Reduced social reciprocity, Impulsivity, A... |
ORPHA:8 |
| Temple Syndrome |
|
Precocious puberty, Bifid uvula, Decreased response to growth hormone stimulation test, Obesity, ... |
ORPHA:254516 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Disproportionate tall stature, Obesity, Hypoplasia of the ovary, Oligo... |
OMIM:615300 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Absence of pubertal development, Obesity, Cryptorchidism, Hypogonadotr... |
OMIM:610628 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal insufficiency, O... |
OMIM:615993 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Azoospermia, Obesity, Low posterior hairline, Sparse facial hair, Absent fac... |
ORPHA:2183 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Temperature instability, Xerostomia, Absence of pubertal development, Type II diab... |
ORPHA:398069 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility |
OMIM:615703 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:618117 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility |
OMIM:604931 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Hypoplas... |
ORPHA:3055 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... |
ORPHA:1772 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... |
ORPHA:247768 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Abnormal hair morphology, Tall stature, Attention deficit hyperac... |
ORPHA:3000 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Small scrotum, Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Abnormality of... |
ORPHA:2234 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Spar... |
OMIM:146110 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... |
ORPHA:3109 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Endometriosis, Dysmenorrhea |
OMIM:131200 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... |
OMIM:194072 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
| 48,Xxyy Syndrome |
|
Abnormal dental enamel morphology, Decreased testicular size, Azoospermia, Tall stature, Type II ... |
ORPHA:10 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Thick eyebrow, Cryptorchidism, Truncal obesity |
ORPHA:3459 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Renal hypoplasia, Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperact... |
OMIM:620439 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism |
OMIM:312910 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... |
OMIM:305400 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, P... |
ORPHA:739 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia... |
ORPHA:228402 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... |
OMIM:278850 |
| Mehmo Syndrome |
|
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Aggressive beh... |
OMIM:300148 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| 48,Xyyy Syndrome |
|
Male hypogonadism, Tall stature, Azoospermia, Aggressive behavior, Enamel hypoplasia, High palate... |
ORPHA:99329 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity |
OMIM:618406 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Microphallus, Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Cryptorchidism, Te... |
OMIM:615542 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias |
ORPHA:141333 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism |
ORPHA:2815 |
| Ane Syndrome |
|
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... |
ORPHA:157954 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Nephrolithiasis, Male infertility, Spermatocele |
OMIM:301060 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonadal dysgenesi... |
ORPHA:243 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
| Mehmo Syndrome |
|
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... |
ORPHA:85282 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Bifid uvula, Small for gestational age, Alopecia, Insulin-resistant di... |
ORPHA:2959 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... |
OMIM:300200 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism |
ORPHA:363741 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, L... |
OMIM:606407 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Decreased serum estradiol, Nephrotic syndrome, Streak ovary, ... |
ORPHA:347 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased... |
ORPHA:3464 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia |
ORPHA:397685 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... |
OMIM:275400 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Cryptorchidism |
OMIM:219050 |
| Prader-Willi Syndrome |
|
Small scrotum, Temperature instability, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidi... |
OMIM:176270 |
| Narcolepsy Type 1 |
|
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Restless legs, A... |
ORPHA:2073 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Polycystic Ovary Syndrome 1 |
|
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Obesity And Hypopigmentation |
|
Polyphagia, Obesity |
OMIM:620195 |
| Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... |
OMIM:617442 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... |
OMIM:201100 |
| Bardet-Biedl Syndrome 2 |
|
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Obesity |
OMIM:615981 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Tall stature, Increased serum estradiol, Absent a... |
ORPHA:99429 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo... |
ORPHA:3130 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Hypogonadism, Decreased response to growth hormone stimulation test, Long eyelashes, Cr... |
ORPHA:3363 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Hypogonadism, Generalized hypertrichosis |
ORPHA:1383 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| 48,Xxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Tall stature, Type II diabet... |
ORPHA:96263 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... |
OMIM:241080 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| 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 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| 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 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... |
ORPHA:71526 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis, Hypergonadotropic hypogonadism |
ORPHA:1014 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Pseudobulbar paralysis |
ORPHA:101006 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity, Hypospadias |
OMIM:615985 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Obesity, Cryptorchidism |
OMIM:601794 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| Gordon Holmes Syndrome |
|
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... |
OMIM:212840 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... |
ORPHA:785 |
| Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... |
OMIM:615363 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
| 46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Macroglossia, Umbilical hernia, Hypopituitarism, Decreased response ... |
ORPHA:226307 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Azoospermia, Low posterior hairline, Ambiguous genitalia, Flexion contra... |
ORPHA:261519 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polycystic ovaries, Loss of gluteal subcut... |
ORPHA:280356 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... |
ORPHA:231222 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Hao-Fountain Syndrome |
|
Micropenis, Aggressive behavior, Premature adrenarche, Cryptorchidism |
OMIM:616863 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis |
OMIM:301900 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... |
OMIM:615234 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... |
ORPHA:3202 |
| Sickle Cell Anemia |
|
Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Un... |
ORPHA:232 |
| Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Low posterior hairline, Bicornuate uterus, Ectopic... |
ORPHA:2578 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased testi... |
ORPHA:280679 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Obesity, Aggressive behavior, Self-mutilation |
OMIM:616521 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... |
ORPHA:753 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Abnormal bleeding, Fractures of the long bones, Bruising suscepti... |
ORPHA:464329 |
| Hemochromatosis, Type 1 |
|
Alopecia, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, ... |
OMIM:235200 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypog... |
ORPHA:300373 |
| Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Hydron... |
OMIM:615996 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Kallmann Syndrome |
|
Abnormal morphology of female internal genitalia, Breast hypoplasia, Decreased testicular size, H... |
ORPHA:478 |
| Meningioma |
|
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Urinary incon... |
ORPHA:2495 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Leopard Syndrome 1 |
|
Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bund... |
OMIM:151100 |
| Perrault Syndrome 5 |
|
Gonadal dysgenesis, High palate, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:616138 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Pancreatic hypoplasia, Maturity-onset diabetes of th... |
OMIM:137920 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... |
ORPHA:3002 |
| Wagro Syndrome |
|
Hypoplastic female external genitalia, Decreased testicular size, Obesity, Reduced social recipro... |
OMIM:612469 |
| Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
| Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hydronephrosis, Adrenal hypoplasia, Hypospadias |
ORPHA:85173 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Hypogonadotropic hypogon... |
OMIM:600955 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Failure to thrive |
OMIM:619310 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Tall stature, Obesity, Female ... |
ORPHA:91 |
| Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility |
ORPHA:1445 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder, Obesity |
ORPHA:369873 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Polydipsia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity |
OMIM:615986 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| 49,Xxxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Abnormal dental enamel morph... |
ORPHA:96264 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Failure to thrive, Decreased body weight |
OMIM:620085 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Small scrotum, Hypothermia, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis |
ORPHA:168593 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Hypogonadism, Abnormality of the ureter, Obesity, Cryptorchidism, Hypopl... |
ORPHA:3409 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Decreased testicular size, Cryptorchidism, Aggressive behavior, Delayed puberty, Hy... |
OMIM:300354 |
| Angelman Syndrome |
|
Self-injurious behavior, Precocious puberty in females, Fair hair, Delayed menarche, Inappropriat... |
ORPHA:72 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Morm Syndrome |
|
Micropenis, Aggressive behavior, Hyperactivity, Truncal obesity |
ORPHA:75858 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea |
OMIM:614851 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Polyembryoma |
|
Irregular menstruation, Increased serum serotonin, Fever, Abnormality of the endocrine system, Ab... |
ORPHA:180229 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Increased mean corpuscular volum... |
OMIM:617052 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... |
ORPHA:95513 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Huntington Disease |
|
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... |
ORPHA:399 |
| Kleine-Levin Syndrome |
|
Polydipsia, Fever, Decreased libido, Abnormal eating behavior, Sweet craving, Polyphagia, Repetit... |
ORPHA:33543 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Brittle h... |
ORPHA:202 |
| Cornelia De Lange Syndrome 5 |
|
Highly arched eyebrow, Hypogonadism, Decreased testicular size, Long eyelashes, Cryptorchidism, L... |
OMIM:300882 |
| Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
| Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Ectopic anus, Secondary a... |
ORPHA:1643 |
| Trisomy 18P |
|
High, narrow palate, Highly arched eyebrow, Bilateral cryptorchidism, Polyphagia, Attention defic... |
ORPHA:1715 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidn... |
OMIM:601076 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615269 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Satoyoshi Syndrome |
|
Alopecia, Amenorrhea, Hypoplasia of the uterus, Alopecia universalis |
OMIM:600705 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Umbilical hernia, Tall stature, Labial hypertrophy, Hyperinsulinemia, Reduc... |
OMIM:608594 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s... |
ORPHA:95619 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Thick eyebrow, Cryptorchidism, Camptodact... |
ORPHA:127 |
| Adenohypophysitis |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Umbilical hernia, Tall stature, Labial hypertrophy, Hyperinsulinemia, Decre... |
OMIM:269700 |
| Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:600274 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S... |
ORPHA:848 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased response to ... |
OMIM:300845 |
| Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Cryptorchidism, Renal insufficiency, Displacement of the uret... |
ORPHA:2377 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Temple Syndrome |
|
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Decreased testicular size,... |
OMIM:616222 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Obesity, Aggressive behavior |
ORPHA:261229 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Obesity, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:619737 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Bruxism, Obesity, Wrist flexion contracture, High palate, Macroorchidism, Rest... |
OMIM:300055 |
| Chung-Jansen Syndrome |
|
Obesity, Thick eyebrow, Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity diso... |
OMIM:617991 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... |
ORPHA:3044 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... |
OMIM:612702 |
| Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
| Mccune-Albright Syndrome |
|
Irregular menstruation, Precocious puberty, Renal phosphate wasting, Increased circulating cortis... |
ORPHA:562 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... |
OMIM:608800 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... |
OMIM:617021 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Hypogonadism, Hernia of the abdominal wall, High palate |
ORPHA:3216 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Cleft palate |
ORPHA:1074 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... |
ORPHA:2410 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... |
ORPHA:90795 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Sparse pubic hair, Inguinal hernia, Sparse axilla... |
OMIM:300068 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi... |
ORPHA:752 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Wagr Syndrome |
|
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnorma... |
ORPHA:93111 |
| N Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:2608 |
| Moynahan Syndrome |
|
Hypogonadism, Alopecia, Cachexia, Sparse hair |
ORPHA:2574 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
| H Syndrome |
|
Alopecia, Recurrent fever, Hypertrichosis, Hypogonadism, Decreased testicular size, Azoospermia, ... |
ORPHA:168569 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the liver, Hyp... |
ORPHA:2169 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... |
ORPHA:314478 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Hydrocolpos, Fever, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine c... |
ORPHA:3411 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Frontal balding, Hypogonadism, Decreased testicular size, External genital hypoplasia, Reduced su... |
ORPHA:3041 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Inappropriate laughter, Obesity, Hyperactivity |
ORPHA:411515 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... |
OMIM:154230 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, High palate |
ORPHA:2528 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesity, Central ad... |
ORPHA:54595 |
| Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Obesity, De... |
ORPHA:3138 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... |
OMIM:202150 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, ... |
ORPHA:3306 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... |
OMIM:264600 |
| Trisomy 5P |
|
Hypoplasia of penis, Obesity |
ORPHA:1742 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
| Limb-Mammary Syndrome |
|
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Failure to thrive, Cryptorchidism, Attention deficit hyperactivity disorder, Arthrog... |
ORPHA:250994 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... |
ORPHA:251937 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Failure to thrive, Hypertrichosis, Long eyelashes, Thick eyebrow, Crypto... |
OMIM:618362 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| 46,Xx Sex Reversal 1 |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Tall stature, Azoospermia, ... |
OMIM:400045 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... |
ORPHA:543 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Hypogonadism |
OMIM:615768 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Reduced social reciprocity, Hi... |
ORPHA:254531 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Inguinal hernia, Cryptorchidism |
ORPHA:1568 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Pancytopenia, Hematuria, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Pu... |
ORPHA:99827 |
| Thrombocytopenia 5 |
|
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... |
OMIM:616216 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ... |
ORPHA:95496 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Increased circulating iron concentration, Melena, Increased mean corpuscular v... |
ORPHA:98870 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:620548 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytope... |
OMIM:619151 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure |
ORPHA:46532 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Amenorrhea,... |
OMIM:110100 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79444 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615266 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... |
OMIM:244200 |
| Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge... |
ORPHA:528 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism, Obesity |
OMIM:300238 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia, Absent outer dynein arms |
OMIM:618300 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Obesity, Aggressive behavior, Hyperactivity, Anorexia, Macroorchi... |
ORPHA:3077 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemogl... |
OMIM:618849 |
| Classic Galactosemia |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Decreased fertility in females, Oligome... |
ORPHA:79239 |
| Polydactyly-Myopia Syndrome |
|
Femoral hernia, Inguinal hernia, Cryptorchidism |
ORPHA:2917 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... |
ORPHA:457083 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Sparse pubic hair, Premature graying of hair, Hypogonadism, Renal insufficiency |
OMIM:618681 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis,... |
OMIM:614880 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:609441 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... |
OMIM:275000 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... |
OMIM:614662 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... |
ORPHA:300298 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephr... |
OMIM:616629 |
| Renal Agenesis |
|
Unilateral renal agenesis, Absent vas deferens, Aplasia/hypoplasia of the uterus, Ureteral agenes... |
ORPHA:411709 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, T... |
ORPHA:96184 |
| Cystic Fibrosis |
|
Decreased body mass index, Absent vas deferens, Failure to thrive, Rectal prolapse, Nephrolithias... |
ORPHA:586 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Tall stature, Decreased fertility, W... |
ORPHA:90794 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Flexion contracture, Joint contracture |
OMIM:608540 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Hypogonadism, Abnormal stomach morphology, Renal insufficiency, Crypto... |
ORPHA:281090 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Congenital hypothyroidism, Obesity, Cryptorchidism, Hyperactivity, Red hair, Hypospadi... |
OMIM:614613 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... |
ORPHA:435660 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Frontal balding, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dy... |
OMIM:160900 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Obesity |
ORPHA:171829 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hypogonadism, Decreased testicular size, Obesity, Inguinal hernia, Aggre... |
ORPHA:85293 |
| Megalencephaly |
|
Macroorchidism, Long penis, Truncal obesity |
ORPHA:2477 |
| X-Linked Intellectual Disability, Siderius Type |
|
Low posterior hairline, Decreased testicular size, Cryptorchidism, Synophrys |
ORPHA:85287 |
| Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating... |
OMIM:613313 |
| 8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, High palate, Hypoplasia... |
ORPHA:251066 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcuta... |
OMIM:604367 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Focal pancreati... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276580 |
| 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia, Polyphagia, High palate, Motor stereotypy, Hypos... |
ORPHA:96121 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... |
ORPHA:206484 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate |
OMIM:612370 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Obesity, Cryptorchidism |
OMIM:615633 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Type II diabetes mellitus, Gout, Osteoporosis, Impaired glucose tolerance |
OMIM:610947 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:171706 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism |
ORPHA:85283 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Hirs... |
ORPHA:2795 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... |
OMIM:616425 |
| 2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypogonadism, Long eyelashes, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Microphallus, Bifid scrotum, Abnormal scrotum morphology, Cryptorchidism, Inguinal hernia, Dysmen... |
ORPHA:397590 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... |
OMIM:613673 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal hypoplasia, Umbilical hernia, Obesity, Cryptorchidism, Micropenis, Hypospadias |
ORPHA:171839 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Tach... |
ORPHA:99826 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Highly arched eyebrow, Bruxism, Inappropriate laughter, Long eyelashes, ... |
OMIM:156200 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... |
ORPHA:811 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Fine hair, Decreased testicular size, External genital hypoplasia, Cryptorchidism, ... |
ORPHA:251028 |
| Cofs Syndrome |
|
Hypogonadism, Arthrogryposis multiplex congenita, Camptodactyly of finger |
ORPHA:1466 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... |
ORPHA:199310 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Cryptorchidism, ... |
ORPHA:261250 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Tracheomalacia, Failure to thrive, Persistence of hemoglobin F... |
OMIM:612561 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Sparse eyebrow, Abnormality of the Leydig cells, Disproportionate tall stature, Cryp... |
ORPHA:3063 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Joubert Syndrome 10 |
|
Polyphagia, Frequent temper tantrums, Obesity, Decreased body weight |
OMIM:300804 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Rickets, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, ... |
OMIM:611590 |
| Ring Chromosome 22 Syndrome |
|
Azoospermia, Thick eyebrow, Inappropriate behavior, Protruding tongue |
ORPHA:1446 |
| Cednik Syndrome |
|
Hypogonadism, Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Hypogonadism, Flexion contracture |
OMIM:251240 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... |
ORPHA:90674 |
| Fetal Minoxidil Syndrome |
|
Generalized hirsutism, Cryptorchidism, Umbilical hernia |
ORPHA:1918 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79443 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Large for gestational age, Agitation |
ORPHA:276556 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
| Ziegler-Huang Syndrome |
|
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... |
OMIM:620501 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, P... |
ORPHA:79085 |
| Martsolf Syndrome 2 |
|
Camptodactyly, Hypogonadotropic hypogonadism, Camptodactyly of finger, Decreased body weight |
OMIM:619420 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Increased circul... |
OMIM:158330 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aplasia of the ovary, Impaired neutrophil chemotax... |
ORPHA:79318 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, High palate, Primary amenorrhea |
OMIM:233400 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren... |
OMIM:615989 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased serum estradiol, Decreased testicular size, Hypogonadotropic hypogonadism, Primary amen... |
OMIM:604168 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Volvulus, Abnormality of the uterus, Failure to thrive... |
ORPHA:2970 |
| 15Q24 Microdeletion Syndrome |
|
High anterior hairline, Failure to thrive, Microphallus, Decreased response to growth hormone sti... |
ORPHA:94065 |
| Xp22.13P22.2 Duplication Syndrome |
|
High anterior hairline, Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries, At... |
ORPHA:284180 |
| Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus |
OMIM:605231 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypogonadism, Low urinary cyclic AMP response to ... |
OMIM:103580 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Sparse eyebrow, Anteriorly placed anus, Decreased serum testosterone concentration, ... |
ORPHA:495875 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary amenorrhea, Micropenis, C... |
OMIM:147950 |
| Clark-Baraitser syndrome |
|
Tall stature, Macroorchidism, Exaggerated median tongue furrow, Obesity |
OMIM:300602 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... |
ORPHA:786 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Microphallus, Delayed puberty, Abdominal obesity, Sparse hair, Anterior hypopituitarism |
ORPHA:631 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Abnormali... |
ORPHA:1173 |
| 46,Xx Sex Reversal 4 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... |
OMIM:617480 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Sparse hair, Secondary amenorrhea, Hyper... |
OMIM:268020 |
| Adnp Syndrome |
|
Abnormal temper tantrums, High anterior hairline, Oral-pharyngeal dysphagia, Umbilical hernia, Cr... |
ORPHA:404448 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Loss of glu... |
ORPHA:435651 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Cryptorchidism, Low posterior hairline, Hypogonadotropic hypogonadism, High palate |
ORPHA:1387 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche, Hirsutism |
OMIM:612847 |
| Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, ... |
ORPHA:273 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno... |
OMIM:185000 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Hypogonadism, High palate, Small for gestational age, Cryptorchidism |
ORPHA:85323 |
| Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Obesity |
OMIM:245800 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Hypogonadism, Low anterior hairline, Low posterior hairline, Attention deficit... |
ORPHA:73272 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Congenital Myopathy 9A |
|
Obesity, Cryptorchidism |
OMIM:618822 |
| Lead Poisoning |
|
Chronic kidney disease, Decreased male libido, Abnormality of the menstrual cycle, Decreased circ... |
ORPHA:330015 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Obesity, Cryptorchidism, Hydronephrosis, Micropenis, High palate, Spar... |
OMIM:619185 |
| Carpenter Syndrome |
|
Umbilical hernia, External genital hypoplasia, Obesity, Cryptorchidism, Abnormal reproductive sys... |
ORPHA:65759 |
| Trisomy X |
|
Precocious puberty, Multicystic kidney dysplasia, Tall stature, Attention deficit hyperactivity d... |
ORPHA:3375 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Primary... |
OMIM:617872 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:88637 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... |
OMIM:613839 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Cleft palate, Decreased testicular size |
OMIM:614838 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Microphallus, Cryptorchidism, Truncal obesity, Increased body mass index, Small for gestational age |
OMIM:300957 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Aggressive behavior, Cachexia, Diabetes insipidus, Dysphagia |
ORPHA:97229 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Robinow Syndrome |
|
Webbed penis, Small scrotum, Multicystic kidney dysplasia, High anterior hairline, Umbilical hern... |
ORPHA:97360 |
| Mosaic Trisomy 14 |
|
Failure to thrive, Camptodactyly of finger, Cryptorchidism, Ectopic anus, High palate, Hypoplasia... |
ORPHA:1703 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Enuresis, Inflexible adherence to routines, Failure to thrive in infancy... |
OMIM:613670 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Premature ovarian insufficiency, Obesity |
OMIM:618124 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Obesity, ... |
OMIM:209900 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| 1P36 Deletion Syndrome |
|
Abnormal female external genitalia morphology, Cryptorchidism, Abnormal intestine morphology, Gen... |
ORPHA:1606 |
| Rudiger Syndrome |
|
Ureterovesical stenosis, Inguinal hernia, Ovarian cyst, Micropenis, Flexion contracture, Bicornua... |
OMIM:268650 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity |
ORPHA:293964 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... |
ORPHA:91354 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
| 13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Cryptorchidism, Self-mutilation, Hyp... |
ORPHA:412035 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Absence of pubertal development |
OMIM:615267 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Increased mean corpuscular volume, Horseshoe kidney, Vesicoureteral reflux, Macrocyti... |
OMIM:612562 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Failure to thrive, Cryptorchidism, Micropenis, Hypospadias, Small for gestational age |
OMIM:612626 |
| Weaver Syndrome |
|
Joint contracture of the hand, Fine hair, Umbilical hernia, Cryptorchidism, Inguinal hernia, Over... |
OMIM:277590 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Impotence, Amenorrhea |
OMIM:604250 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k... |
OMIM:136680 |
| Ovarian Dysgenesis 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... |
OMIM:618187 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Hypogonadism, Impotence, Abnormality of endocrine pancreas physiology, Diabetes mellitus |
ORPHA:79230 |
| Silver-Russell Syndrome |
|
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... |
ORPHA:813 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair, Inguinal hernia |
ORPHA:1174 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... |
ORPHA:85450 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Obesity, Vesicoureteral reflux, Cryptorchidism, Pseudohypoparathyroidism, Abnor... |
ORPHA:464288 |
| Camurati-Engelmann Disease, Type 2 |
|
Hypogonadism, Hip contracture, Knee flexion contracture, Delayed puberty, Disproportionate tall s... |
OMIM:606631 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Congenital meg... |
ORPHA:617 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, External genital hypoplasia, Obesity |
OMIM:600151 |
| Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Hypertrichosis, Umbilical hernia, Tall stature, Birth length greater than... |
OMIM:618786 |
| Lig4 Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Cryptorchidism, Low anterior hairline, Amenorrhea, ... |
OMIM:606593 |
| Rin2 Syndrome |
|
Sparse scalp hair, Umbilical hernia, Cryptorchidism, Hirsutism, Premature ovarian insufficiency, ... |
ORPHA:217335 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Nail dystrophy, Oral leukoplakia, Hypogonadism |
OMIM:618165 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
ORPHA:226313 |
| Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... |
ORPHA:99725 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea |
OMIM:264270 |
| Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Hyperactivity |
DECIPHER:39 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Palpitations, L... |
ORPHA:86839 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Self-injurious behavior, Arthrogryposis multiplex congenita, Obesity, Cryptor... |
ORPHA:254346 |
| Non-Syndromic Posterior Hypospadias |
|
Small for gestational age, Urethral diverticulum, Bifid scrotum, Androgen insufficiency, Cryptorc... |
ORPHA:95706 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Maternal diab... |
ORPHA:3157 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... |
ORPHA:325345 |
| Björnstad Syndrome |
|
Hypogonadism, Alopecia, Brittle hair |
ORPHA:123 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Ovarian Dysgenesis 4 |
|
Decreased body weight, Decreased serum estradiol, Elevated circulating follicle stimulating hormo... |
OMIM:616185 |
| Bloom Syndrome |
|
Hypertrichosis, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in fe... |
OMIM:210900 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Small pituitary gland, Alopecia, Central adrenal insufficiency, Reduced subcutaneous adipose tiss... |
OMIM:612079 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
High anterior hairline, Abnormality of nail color, Camptodactyly of finger, Hypogonadism, Abnorma... |
ORPHA:3220 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Failure to thrive, Polydipsia, Goiter, Puberty and gonadal disorders, Increased c... |
ORPHA:525731 |
| Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
| Reni Syndrome |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Adrenal i... |
OMIM:617575 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... |
ORPHA:464321 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Abnormal temper tantrums, Failure to thrive, Hypogonadism, Cryptorchidism, Obsessive-compulsive t... |
ORPHA:500055 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Dysmenorrhea, Myoglobi... |
ORPHA:264580 |
| Majeed Syndrome |
|
Failure to thrive, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Erythroid hyperplasia, A... |
OMIM:609628 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Delayed puberty |
OMIM:615270 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... |
OMIM:609734 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Furrowed tongue, Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Increased body weight, Attention deficit hyperactivity disorder, Impulsivity, Syn... |
ORPHA:589905 |
| Retinitis Pigmentosa 59 |
|
Micropenis, Renal insufficiency, Cryptorchidism, Failure to thrive |
OMIM:613861 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair, Obesity, Penile freckling, Large for gestational age, Overgrowth, High palate, Hydro... |
OMIM:605309 |
| Familial Congenital Mirror Movements |
|
Hypogonadotropic hypogonadism |
ORPHA:238722 |
| Galactokinase Deficiency |
|
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Premature ovarian in... |
ORPHA:79237 |
| Werner Syndrome |
|
Abnormal hair whorl, Chondrocalcinosis, Premature graying of hair, Hypogonadism, Slender build, T... |
ORPHA:902 |
| Tonne-Kalscheuer Syndrome |
|
Self-injurious behavior, Velopharyngeal insufficiency, Fine hair, Decreased testicular size, Cryp... |
OMIM:300978 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amen... |
ORPHA:91351 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ... |
ORPHA:340 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
High, narrow palate, Obesity, Thick eyebrow, Attention deficit hyperactivity disorder, Compulsive... |
ORPHA:444002 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Cryptorchidism, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, J... |
OMIM:615381 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Polycystic ovaries, Dysmenorr... |
ORPHA:79083 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Congenital diaphragmat... |
OMIM:601186 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... |
OMIM:202110 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Type II diabetes m... |
ORPHA:110 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Bilateral cryptorchidism, Obesity, Proteinuria, Micropenis |
OMIM:619471 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration, Urinary urgency |
OMIM:609195 |
| Aromatase Deficiency |
|
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
| Wolfram Syndrome 1 |
|
Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Dysphagia, Testicular atrophy, D... |
OMIM:222300 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, High, narrow palate, High anterior hairline, Failure to thrive, Decreased resp... |
OMIM:615873 |
| Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Umbilical hernia, Obesity, Thick eyebrow, Cryptorchidism, Aggressive beh... |
ORPHA:404443 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypogonadism, Hypopituitarism, Cryptorchidism, Anterior pituitary hy... |
OMIM:615849 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Hypogonadism, Abnormality of the thyroid gland, Dysphagia, Premature ovarian insufficiency, Diabe... |
OMIM:609286 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Bruising susceptibility, Microcytic anemia, Cryptorchidism, Fl... |
ORPHA:98791 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Bifid uvula, Highly arched eyebrow, Insulin-resistant diabetes mellitus, Decreased testicular siz... |
ORPHA:293967 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Small scrotum, Hypogonadism, Low posterior hairline, Abnormal hair pattern, Hypoplasia of penis, ... |
ORPHA:2983 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity disorder, Abdominal obesity,... |
OMIM:301039 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari synd... |
OMIM:127550 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Oliguria, Stiff neck, Lymphopenia, Leukopenia, Shock, Leukocytosis, Renal insufficie... |
ORPHA:319213 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:231393 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, O... |
OMIM:309801 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, Secondary ame... |
OMIM:157640 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Aggressive behavior, Obesity, Hyperactivity |
OMIM:620270 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... |
OMIM:618096 |
| Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemorrhagic ovarian cyst, Decrease... |
ORPHA:335 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, Moderate albuminuria, Hypogonadism, External genital hypoplasia, Obesity, Cryptorc... |
OMIM:614231 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Bloom Syndrome |
|
Neoplasm of the colon, Azoospermia, Stomach cancer, Esophageal neoplasm, Sparse eyelashes, Adipos... |
ORPHA:125 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Fever, Camptodactyly of finger, Decreased respon... |
OMIM:602782 |
| Kleefstra Syndrome 1 |
|
Obesity, Protruding tongue, Cryptorchidism, Compulsive behaviors, Motor stereotypy, Aggressive be... |
OMIM:610253 |
| 8Q22.1 Microdeletion Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Camptodactyly of finger, Hypogonadism, Cryptorchidism, Sub... |
ORPHA:178303 |
| Bardet-Biedl Syndrome 14 |
|
Obesity, Renal insufficiency |
OMIM:615991 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosi... |
ORPHA:2348 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... |
OMIM:300942 |
| Man1B1-Cdg |
|
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Truncal obesity, Lon... |
ORPHA:397941 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Small scrotum, Alopecia, Fine hair, Hypogonadism, Cryptorchidism |
ORPHA:228390 |
| Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:615538 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Splenomegaly, Renal tubular acidosis, Elevated circulat... |
ORPHA:79240 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
3-Methylglutaric aciduria, Inguinal hernia, Cryptorchidism |
OMIM:250951 |
| Omodysplasia 2 |
|
Uterus didelphys, Cryptorchidism, Cleft palate, Dyspareunia, Labial hypoplasia, Micropenis, Hypos... |
OMIM:164745 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Low posterior hairline, High palate, Obesity |
OMIM:300577 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... |
OMIM:616943 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, High palate, Inguinal hernia, Cleft palate |
ORPHA:1135 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Meg... |
OMIM:277410 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Type I diabetes mellitus, Alopecia, Graves disease, Hypogonadism, Abnormality of the thyroid glan... |
ORPHA:3143 |
| Sheehan Syndrome |
|
Central adrenal insufficiency, Decreased serum estradiol, Sparse pubic hair, Breast hypoplasia, O... |
ORPHA:91355 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality |
OMIM:607485 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Sparse pubic hair, Spa... |
OMIM:618419 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Fixated interests, Sparse lateral eyebrow, Failure to thrive, Unilateral cryptorchidism, Recurren... |
OMIM:617788 |
| Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Streak ovary, Cryptorc... |
OMIM:618820 |
| Interstitial Cystitis |
|
Functional abnormality of the bladder, Abnormal vagina morphology, Abnormality of the urethra, Ur... |
ORPHA:37202 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... |
ORPHA:95717 |
| Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis |
ORPHA:90646 |
| Laron Syndrome |
|
Truncal obesity, Hypoplasia of penis, Delayed puberty, Abnormality of the endocrine system |
ORPHA:633 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Bicornuate uterus, Cleft... |
OMIM:615524 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Arthrogryposis multiplex congenita, Vaginal atresia, Hypoplasia of the uterus, ... |
OMIM:616258 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Isolated Hemihyperplasia |
|
Inguinal hernia, Cryptorchidism |
ORPHA:2128 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Ureteral agenesis, Attention deficit hyperactivity disorder, Vaginal atresia, H... |
OMIM:617914 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Highly arched eyebrow, Failure to thrive, Obesity, Vesicoureteral reflux, Renal insufficiency, Cr... |
ORPHA:96147 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Small for gestational age |
ORPHA:90050 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... |
ORPHA:456328 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Weight loss, High palate, Anal atresia, Hypospad... |
ORPHA:84 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Keloids, Pyelonephritis, Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Irregular menstruation, Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroe... |
ORPHA:189427 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Failure to thrive, Increased level of galactitol in urine, Premature... |
OMIM:230400 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, High, narrow palate, Highly arched eyebrow, High anterior hairline, Obesity, ... |
OMIM:619312 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Premature ovarian insufficiency, Female infertility, Failure to thrive |
OMIM:619518 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Vasculitis, Hematochezia, Cellulitis, Failure to thrive, Cervical... |
OMIM:617718 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Hermansky-Pudlak Syndrome 6 |
|
Albinism, Perineal fistula, Endometriosis, Neurogenic bladder, Urinary incontinence, Anal atresia |
OMIM:614075 |
| Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Obesity, Esophageal carcinoma |
ORPHA:99976 |
| N Syndrome |
|
Hypospadias, Cryptorchidism |
OMIM:310465 |
| Acrocallosal Syndrome |
|
Tall stature, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Hypospadias |
ORPHA:36 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Supernumerary nipple, Obesity, Renal insufficienc... |
ORPHA:261494 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:261102 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Hypogonadism |
OMIM:302950 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type I diabetes mellitus, Alopecia, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hy... |
ORPHA:412057 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Hypertension, Lipoatrophy |
ORPHA:79084 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Alopecia, Intestinal malrotation, Decreased testicular size, Cleft soft palate,... |
OMIM:619321 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Hypogonadism, Elbow flexion contracture, Decreased body weight, Lipody... |
OMIM:616200 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoinsulinemia, Large for gestational age, Obesity, Truncal obesity |
OMIM:240900 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri... |
ORPHA:314473 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Metrorrhagia, Weight loss, Anorexi... |
ORPHA:370348 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Nep... |
OMIM:219090 |
| Oslam Syndrome |
|
Radioulnar synostosis, Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hyperbilirubinemia... |
ORPHA:400 |
| Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... |
OMIM:266810 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Castleman Disease |
|
Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficienc... |
ORPHA:160 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Retrograde ejaculation, Nocturia, High palate, Reduced circulating prol... |
OMIM:223360 |
| Alström Syndrome |
|
Chronic kidney disease, Testicular fibrosis, Frontal balding, Decreased circulating T4 concentrat... |
ORPHA:64 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
| 1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cryptorchidism, Hypergonadotropic h... |
ORPHA:250999 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Hepatic steatosis,... |
ORPHA:280365 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypogonadism, Hypoplastic nipples, Sparse hair, Aminoaciduria |
OMIM:273400 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Anal atresia, Hypospadias, Cryptorchidism |
ORPHA:1381 |
| Prader-Willi Syndrome Due To Translocation |
|
Bifid uvula, Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimula... |
ORPHA:177907 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC... |
OMIM:614736 |
| Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries |
OMIM:142330 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringi... |
ORPHA:163681 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Volvulus, Failure to thrive, Villous atrophy, Abnormal small intestine mo... |
ORPHA:95427 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Obesity, Inguinal hernia |
OMIM:300209 |
| Caudal Duplication |
|
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Cryptorchidism, Omphalocele,... |
ORPHA:1756 |
| Tbck-Related Intellectual Disability Syndrome |
|
High, narrow palate, Decreased response to growth hormone stimulation test, Central adrenal insuf... |
ORPHA:488632 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Supernumerary nipple, Inguinal hernia, Cryptorchidism, Attention deficit hype... |
OMIM:619243 |
| Proximal Xq28 Duplication Syndrome |
|
Hernia of the abdominal wall, Hypospadias, Cryptorchidism |
ORPHA:1762 |
| Stt3B-Cdg |
|
Micropenis, Small scrotum, Cryptorchidism, Failure to thrive |
ORPHA:370924 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Highly arched eyebrow, Hypertrichosis, Decreased response to growth hormone stimulation test, Lon... |
OMIM:615866 |
| Alexander Disease |
|
Precocious puberty, Self-injurious behavior, Failure to thrive, Hypothermia, Hypothyroidism, Dysp... |
ORPHA:58 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Small scrotum, Cryptorchidism, Failure to thrive |
OMIM:615597 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi... |
OMIM:615926 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Nail dystrophy, Oral leukoplakia |
OMIM:613987 |
| Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Obesity, Crypt... |
ORPHA:439822 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| 11P15.4 Microduplication Syndrome |
|
Highly arched eyebrow, Obesity, Aggressive behavior, Synophrys |
ORPHA:300305 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... |
ORPHA:293987 |
| Adrenoleukodystrophy |
|
Alopecia, Urinary bladder sphincter dysfunction, Hypogonadism, Primary adrenal insufficiency, Att... |
OMIM:300100 |
| Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... |
ORPHA:97214 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus |
OMIM:608320 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Placental Site Trophoblastic Tumor |
|
Amenorrhea, Metrorrhagia |
ORPHA:99928 |
| Stt3A-Cdg |
|
Micropenis, Small scrotum, Cryptorchidism, Failure to thrive |
ORPHA:370921 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| 46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly, Aplasia of the... |
OMIM:618901 |
| Fg Syndrome 3 |
|
Fine hair, Frontal upsweep of hair, Cryptorchidism, Hyperactivity, Joint contracture, Sparse hair... |
OMIM:300406 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Failure to thrive, Hypogonadism, Crypto... |
ORPHA:96170 |
| Carpenter Syndrome 1 |
|
Precocious puberty, Joint contracture of the hand, Hydroureter, Umbilical hernia, External genita... |
OMIM:201000 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Fever, Abnormal female external genitali... |
ORPHA:90790 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Malakoplakia |
|
Fever, Urinary bladder inflammation, Abnormality of the menstrual cycle, Dysuria, Urinary hesitan... |
ORPHA:556 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Chronic kidney disease, Proximal renal tubular acidosis, Nephrocalcinosis, Uterus didelphys, Sept... |
OMIM:146255 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Self-injurious behavior, Failure to thrive in infancy, Abnormality of the ure... |
ORPHA:819 |
| Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm |
OMIM:308100 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Hypogonadotropic hyp... |
OMIM:616113 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Preeclampsia |
|
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Abnormality of the... |
ORPHA:275555 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Contractures of the large joints, Bilateral cryptorchidism, Decreased response to growth hormone ... |
ORPHA:96179 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Proteinuria, Polyphagia, Delayed puberty, Membranopro... |
ORPHA:251004 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormality of the hairline, Cryptorchidism, Polyphagia, High palate, Ectopic kidney, Dysphagia, ... |
OMIM:607872 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Bifid scrotum, Methemoglobinemia, Male pseudoherm... |
OMIM:250790 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Hypospadias, Cryptorchidism |
OMIM:620135 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Cryptorchidism, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorde... |
ORPHA:251071 |
| Alstrom Syndrome |
|
Irregular menstruation, Nephritis, Alopecia, Insulin-resistant diabetes mellitus, Decreased respo... |
OMIM:203800 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Joint contracture of the hand, Hypogonadism, Decreased testicular size, Cryp... |
OMIM:612513 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of penis, Bifid scrotum, Synophrys |
ORPHA:1295 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Bifid uvula, Failure to thrive, Camptodactyly of finger, Decreased testicula... |
ORPHA:2753 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Lymphopenia, Polycystic ovaries, Telangiecta... |
ORPHA:100 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Autosomal Recessive Amelia |
|
Small scrotum, Hypoplasia of penis, Cryptorchidism |
ORPHA:1027 |
| Premature Ovarian Failure 11 |
|
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... |
ORPHA:1501 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... |
OMIM:119500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Abnormal hair whorl, Horseshoe kidney, Nail dystrophy, Hirsutism, Increa... |
OMIM:300860 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypercalciuria, Adrenal hy... |
OMIM:614732 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Microgastria, Failure to thrive, Horseshoe kidney, Intestinal malro... |
ORPHA:2538 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Unilateral renal agenesis, Elevated circulating parathyroid hormone level... |
OMIM:101800 |
| Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Cryptorchidism |
ORPHA:461 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Hyperinsulinemia, Hypothermia, Retrograde ejaculation, Nocturia |
ORPHA:230 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... |
ORPHA:91347 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Prolonged bleeding following procedure, Hepatic steatosis, Polycystic ovaries, Tubul... |
ORPHA:79259 |
| Marinesco-Sjögren Syndrome |
|
Hypogonadism, External genital hypoplasia |
ORPHA:559 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hypert... |
OMIM:262190 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, ... |
OMIM:618504 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
| Mirage Syndrome |
|
Microphallus, Esophageal stricture, Decreased testicular size, Adrenal insufficiency, Cryptorchid... |
OMIM:617053 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Johnson Neuroectodermal Syndrome |
|
Alopecia, Failure to thrive, Hypogonadism, Absent eyelashes, Absent eyebrow, Sparse hair, Cleft p... |
ORPHA:2316 |
| Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Abnormal circulating lipid concentration, Cardiomyopathy, Generalized lipodys... |
ORPHA:79086 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Malignant hyperthermia, Horizontal eyebrow, Congenital hypothyroidism, Obesity, Synophrys |
ORPHA:352530 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity, Synophrys |
OMIM:300803 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... |
ORPHA:846 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... |
OMIM:615962 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased respons... |
ORPHA:90695 |
| Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Testicular atrophy, ... |
OMIM:300322 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Methylmalonic aciduria, Failure to thrive, Lacticaciduria |
OMIM:245400 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc... |
OMIM:619774 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Proteinuria, Bicornuate uterus, Primary amenorrhea |
OMIM:191830 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Hypothyroidism, Diabetes mellitus, Dysphagia |
ORPHA:98673 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Horseshoe kidney, Cryptorchidism, Ectopic kidney, Small for gestational age, Hy... |
OMIM:227650 |
| Cockayne Syndrome Type 2 |
|
Male hypogonadism, Cryptorchidism, Scarring, Enamel hypoplasia, Flexion contracture |
ORPHA:90322 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Attention deficit hyperactivity disorder, Obsessive-compulsive trait, Hypothyroidism, Cryptorchidism |
OMIM:619908 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Congenital adrenal hyperplasia, Inguinal hernia, Increased serum testostero... |
ORPHA:96181 |
| Acrodysostosis |
|
Irregular menstruation, Abnormal female external genitalia morphology, Cryptorchidism, Hypogonadism |
ORPHA:950 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Alopecia, Highly arched eyebrow, Sparse lateral eyebrow, Dystrophic toenail, Hypog... |
ORPHA:3253 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin... |
OMIM:105650 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the ureter, Cryptorchidism, Urinary incontinence, Anal atresia, Epispadias, Renal ... |
ORPHA:322 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Acute pancreatitis, Increased adipose tissue around the neck, Increased facial adipose tissue, La... |
OMIM:151660 |
| Meningococcal Meningitis |
|
Fever, Renal insufficiency, Hypothermia, Increased circulating procalcitonin concentration, Anorexia |
ORPHA:33475 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Sparse body hair, Supernumerary nipple, Absent eyelashes, Trichodysplasia... |
ORPHA:1809 |
| Sifrim-Hitz-Weiss Syndrome |
|
Bifid uvula, Anteriorly placed anus, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, ... |
OMIM:617159 |
| Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Umbilical hernia, Hypogonadism, Nephrolithiasis, Dysmenorrhea, Amenorrh... |
ORPHA:2067 |
| Autosomal Dominant Omodysplasia |
|
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Bifid scrotum |
ORPHA:93328 |
| Exudative Vitreoretinopathy 4 |
|
Osteopenia, Vitreous hemorrhage |
OMIM:601813 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Motor stereotypy, Aminoaciduria, Self... |
ORPHA:534 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Long eyelashes, Thick eyebrow, Obesity, Lipoma, High palate, Synophrys |
ORPHA:480907 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Self-injurious behavior, Ankyloglossia, Obesity, Frequent temper tantrums, Cryptorchidism, Hirsut... |
OMIM:616078 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Methylmalonic aciduria, Failure to thrive, Hypothermia, 3-Methylglu... |
ORPHA:17 |
| Myotonic Dystrophy 2 |
|
Frontal balding, Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulati... |
OMIM:602668 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Hypospadias, Truncal obesity, Supernumerary nipple |
ORPHA:3224 |
| Renal Nutcracker Syndrome |
|
Varicocele, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval varicose vein, We... |
ORPHA:71273 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Tracheomalacia, Tricuspid regurgitation, Splenic cyst, Cryptorchid... |
OMIM:620371 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... |
ORPHA:231401 |
| Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena... |
OMIM:613390 |
| Myhre Syndrome |
|
Abnormal penis morphology, Precocious puberty, Bifid uvula, Hypogonadism, External genital hypopl... |
ORPHA:2588 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... |
ORPHA:90673 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Inguinal hernia, Hypothyroidism, Tru... |
OMIM:616541 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Isolated Atp Synthase Deficiency |
|
Hypogonadism, Renal hypoplasia, Hypothyroidism, 3-Methylglutaconic aciduria |
ORPHA:254913 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Urinary retention, Hypothermia, Erectile dysfunction, Dysphagia, Flexion... |
ORPHA:99027 |
| Riboflavin Deficiency |
|
Hypothermia, Dicarboxylic aciduria |
OMIM:615026 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Highly arched eyebrow, Anteriorly placed anus, Supernumerary nipple, Obesity, Vesicoureteral refl... |
OMIM:618653 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Oligomenorrhea, Insulin-resistant diabetes mellitus |
OMIM:613877 |
| Diphallia |
|
Penoscrotal transposition, Bifid scrotum, Duplicated colon, Horseshoe kidney, Ectopic scrotum, Di... |
ORPHA:227 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... |
ORPHA:99889 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Sparse eyebrow, Failure to thrive, Fine hair, Supernumerary nipple,... |
ORPHA:261349 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity, Bilateral breast hypoplasia, Primary amenorrhea |
ORPHA:319675 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Hypospadias |
OMIM:619718 |
| Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
| Macs Syndrome |
|
Alopecia, Sparse eyebrow, Umbilical hernia, Cryptorchidism, Decreased body weight, High palate, S... |
OMIM:613075 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Hypogonadism, External genital hypoplasia, Cryptorchidism, Submucous cleft hard pala... |
ORPHA:2250 |
| Rabson-Mendenhall Syndrome |
|
Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced sub... |
ORPHA:769 |
| Lumbar Syndrome |
|
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... |
ORPHA:83628 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cryptorchidism, Inguinal hernia, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary... |
OMIM:603457 |
| Cohen Syndrome |
|
High, narrow palate, Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, Obesity, Lon... |
ORPHA:193 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Small scrotum, Failure to thrive, Camptodactyly of finger, Hypogonadism, Umbilical hernia, Crypto... |
ORPHA:2990 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Distal Deletion 12Q |
|
Obsessive-compulsive trait, Ectopic kidney, Polycystic kidney dysplasia, Duodenal atresia, High, ... |
ORPHA:96149 |
| Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Congenital diaphragmatic hernia, Abnormali... |
ORPHA:139466 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Hypertrichosis, Hypogonadism, Leukonychia, Primary... |
ORPHA:2905 |
| Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Obesity |
OMIM:103200 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hypogonadism, Cholelithiasis, Type II diabetes mellitus |
ORPHA:79095 |
| Chops Syndrome |
|
High, narrow palate, Coarse hair, Horseshoe kidney, Obesity, Long eyelashes, Vesicoureteral reflu... |
OMIM:616368 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadism, Delayed puber... |
ORPHA:2326 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Failure to thrive, Aplasia/Hypoplasia of the thymus, Osteomalacia, Camptodactyly of f... |
ORPHA:2176 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina... |
ORPHA:65681 |
| Rafiq Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Obesity, Broad eyebrow, Aggressive... |
OMIM:614202 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea |
ORPHA:2975 |
| Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Premature graying of hair, Hypogonadism, White forelock, Cryptorchidis... |
OMIM:613266 |
| Martin-Probst Syndrome |
|
Bifid scrotum, Umbilical hernia, Renal insufficiency, Cryptorchidism, Proteinuria, Hypoplastic ni... |
OMIM:300519 |
| Kabuki Syndrome |
|
Precocious puberty, Highly arched eyebrow, Failure to thrive, Sparse lateral eyebrow, Crossed fus... |
ORPHA:2322 |
| Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Duodenal atresia, Hyperg... |
OMIM:300514 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... |
OMIM:102200 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Cryptorchidism, Hydronephrosis, Urethral valve, Enuresis |
OMIM:236730 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Renal hypoplasia, Hypogonadism, Decreased testicular size, Obesity, Vesicoureteral... |
OMIM:309580 |
| Persistent Müllerian Duct Syndrome |
|
Male pseudohermaphroditism, Inguinal hernia, Cryptorchidism |
ORPHA:2856 |
| Alg9-Cdg |
|
Bifid uvula, Hypertrichosis, Villous atrophy, Hydronephrosis, Low posterior hairline, Hypoplastic... |
ORPHA:79328 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Low posterior h... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Low posterior h... |
ORPHA:99228 |
| Monosomy X |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Low posterior h... |
ORPHA:99226 |
| Turner Syndrome |
|
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Low posterior h... |
ORPHA:881 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Obesity, Stereotypical hand wringing, Skin-pickin... |
OMIM:600430 |
| Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Absence of subcutaneous fat, N... |
OMIM:601675 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Small scrotum, Bifid uvula, Fixated interests, Umbilical hernia, Hair-pu... |
OMIM:620330 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Congenital diaphragmatic hernia, Generalized hirsut... |
ORPHA:199 |
| 46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal |
OMIM:614279 |
| Pseudopseudohypoparathyroidism |
|
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612463 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, High anterior hairline, Increased circulating prolactin concentration, Vesico... |
ORPHA:438213 |
| Cimdag Syndrome |
|
Hypogonadism, Cholelithiasis, Lipodystrophy |
OMIM:619273 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia, Inguinal hernia, Joint contracture |
OMIM:614498 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Atrioventricular block, Carpal osteolysis, Osteolysis involving tarsal bones, Increas... |
ORPHA:371428 |
| Clark-Baraitser Syndrome |
|
Aggressive behavior, High palate, Obesity, Hyperactivity |
OMIM:617752 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Angelman Syndrome Due To A Point Mutation |
|
Heat intolerance, Inappropriate laughter, Abnormal eating behavior, Obesity, Protruding tongue, R... |
ORPHA:411511 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormality of the male genitalia, Joint stiffness, Cryptorchidism, Abnormal hemoglobin, Hydronep... |
ORPHA:847 |
| Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Obesity, Elevated circulating parathyroid ... |
OMIM:603233 |
| Ochoa Syndrome |
|
Urethral obstruction, Polydipsia, Vesicoureteral reflux, Cryptorchidism, Renal insufficiency, Hyd... |
ORPHA:2704 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... |
OMIM:274300 |
| Familial Exudative Vitreoretinopathy |
|
Retinal neovascularization, Vitreous hemorrhage, Reduced bone mineral density, Macular telangiect... |
ORPHA:891 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Failure to thrive, Abnormality of the uterus, Duodenal stenos... |
ORPHA:2470 |
| Leptospirosis |
|
Acute kidney injury, Hypotension, Hepatitis, Pulmonary hemorrhage, Hepatomegaly, Arrhythmia, Jaun... |
ORPHA:509 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction, Obesity, Urinary incontinence, Dysphagia, Urinary urgency |
OMIM:604360 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Urinary incontinence, Obesity |
ORPHA:464282 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Fine hair, Abnormal female external genitalia morphology, Attention deficit h... |
ORPHA:2637 |
| Addison Disease |
|
Normocytic anemia, Thymoma, Renal salt wasting, Hypotension, Failure to thrive, Decreased female ... |
ORPHA:85138 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Congenital hypothyroidism, Obesity |
ORPHA:88643 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
| Wilson Disease |
|
Failure to thrive, Abnormality of the menstrual cycle, Increased body weight, Aggressive behavior... |
ORPHA:905 |
| Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
| Fanconi Anemia, Complementation Group E |
|
Horseshoe kidney, Cryptorchidism, Ectopic kidney, Small for gestational age, Hypergonadotropic hy... |
OMIM:600901 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Retinal hemorrhage, Petechiae, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, J... |
ORPHA:294 |
| Microtriplication 11Q24.1 |
|
Bruxism, Long eyelashes, Obesity, Thick eyebrow, Cleft palate, Synophrys |
ORPHA:289522 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Pheochromocytoma, Multiple renal cysts, Hepatic hemangioma, Epididymal cyst, Pancre... |
OMIM:193300 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Central hypothyroidism, Anteriorly placed anus, Umbilical hernia, Failure to th... |
ORPHA:798 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick eyebrow, Low posterior hairline, Thick hair, Truncal obesity, Synophrys |
ORPHA:2429 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... |
ORPHA:95494 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
ORPHA:2298 |
| Baralle-Macken Syndrome |
|
Urinary incontinence, Obesity, High, narrow palate, Hirsutism |
OMIM:619255 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Abnormality of temperatu... |
OMIM:618493 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Bifid scrotum, Abnormal morphology of f... |
ORPHA:887 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Decreased adiponectin level, Lipodystrophy, Decreased serum leptin, Diabe... |
OMIM:615238 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Congenital diaphragmatic hernia, Male pseudohermaph... |
ORPHA:2075 |
| Wolfram Syndrome |
|
Nephropathy, Male hypogonadism, Polydipsia, Hypogonadism, Dysuria, Delayed puberty, Diabetes insi... |
ORPHA:3463 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Rickets, Increased circulating cortisol level, Osteomalacia, Corti... |
ORPHA:249 |
| 2Q37 Microdeletion Syndrome |
|
Highly arched eyebrow, Multicystic kidney dysplasia, Sparse eyebrow, Supernumerary nipple, Umbili... |
ORPHA:1001 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Hyperostosis, Sple... |
ORPHA:2969 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Heat intolerance, Inappropriate laughter, Abnormal eating behavior, Obesity, Protruding tongue, R... |
ORPHA:98794 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Duodenal ulcer, Ce... |
ORPHA:722 |
| Timothy Syndrome |
|
Hypothyroidism, Hypothermia |
OMIM:601005 |
| Immunodeficiency 61 |
|
Attention deficit hyperactivity disorder, Obesity |
OMIM:300310 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Monosomy 13Q34 |
|
Obesity, Horizontal eyebrow, Metrorrhagia |
ORPHA:96168 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
| Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
| N-Acetylglutamate Synthase Deficiency |
|
Aggressive behavior, Hypothermia, Failure to thrive, Anorexia |
OMIM:237310 |
| Caudal Regression Syndrome |
|
Abnormality of the ureter, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Ambiguous ... |
ORPHA:3027 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, An... |
OMIM:618278 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... |
OMIM:618363 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Dentinogenesis imperfecta, Ob... |
OMIM:619269 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive, Umbilical hernia, Hypogonadism, Esophagitis, Inguinal hernia, Abnormality of h... |
ORPHA:79351 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Bifid uvula, Tall stature, Long eyelashes, Obesity, Hyperactivity, Cleft palate |
OMIM:618089 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss, Dyspareunia, Metrorrhagia, Menorrhagia |
ORPHA:168816 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle, Hematuria, Cellulitis, Tall stature |
ORPHA:90308 |
| Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Abnormal testis morph... |
ORPHA:1227 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Glomerulonep... |
ORPHA:99867 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Osteopenia, Unilateral renal agenesis, Fractured rib, Umbilical hernia, Recu... |
OMIM:618188 |
| Mody |
|
Abnormal circulating insulin concentration, Nephropathy, Pancreatic hypoplasia, Insulin-resistant... |
ORPHA:552 |
| Donohue Syndrome |
|
Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Cholestasis, Ovarian cyst... |
OMIM:246200 |
| Ring Chromosome 12 Syndrome |
|
High, narrow palate, Dystrophic toenail, Glandular hypospadias, Breast hypoplasia, Cryptorchidism... |
ORPHA:1439 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Obesity |
OMIM:618725 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia, Failure to thrive, Bile duct proliferation, 3-Methylglutaconic aciduria |
OMIM:618329 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis |
ORPHA:163596 |
| Rothmund-Thomson Syndrome Type 1 |
|
Hypogonadism, Alopecia totalis, Abnormal dental enamel morphology, Sparse or absent eyelashes, Cr... |
ORPHA:221008 |
| Werner Syndrome |
|
Hypogonadism, Diabetes mellitus, Alopecia of scalp |
OMIM:277700 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia, Alopecia totalis, Cholelithiasis, Small for gestational age |
OMIM:618775 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, High palate, Obesity, Umbilical hernia |
ORPHA:1035 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Alopecia, Sparse eyebrow, Annular pancreas, Anteriorly placed anus, Premature graying of hair, Hy... |
OMIM:268400 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Tricuspid regurgitation, Mitral regurgitation, Decreased calvarial ossification... |
OMIM:619879 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Cardiomyopathy, Abnormal left ventricular function, Palpitations, Elevated urinary ... |
ORPHA:892 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced behavior, Intestinal m... |
ORPHA:353281 |
| Fanconi Anemia, Complementation Group C |
|
Horseshoe kidney, Cryptorchidism, Flexion contracture, Ectopic kidney, Small for gestational age,... |
OMIM:227645 |
| Menkes Disease |
|
Alopecia, Sparse hair, Hypothermia, Brittle hair |
OMIM:309400 |
| Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Sparse ... |
ORPHA:79474 |
| Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Highly arched eyebrow, Absent nipple, Male urethral meatus stenosis, Cryptorchidism, Hypoplastic ... |
OMIM:616001 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Organic aciduria, Pica, Obesity, Long eyelashes, Elbow hypertrichosis, Aggressive behavior, High ... |
OMIM:620191 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Type II diabetes mellitus, Enamel hypoplasia, Truncal obesity, Hypospadias, S... |
OMIM:210720 |
| 17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Thick eyebrow, Vesicoureteral reflux, Aggressive behavior, Pineal c... |
ORPHA:529962 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Recurrent fever, Ankyloglossia, Decreased body weight, Hematuria, Tics, High palate, Motor stereo... |
OMIM:619475 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Cryptorchidism, Chordee, Urinary in... |
ORPHA:261552 |
| Aniridia-Absent Patella Syndrome |
|
Inguinal hernia, Cryptorchidism |
ORPHA:1069 |
| Cockayne Syndrome A |
|
Irregular menstruation, Atypical scarring of skin, Dry hair, Failure to thrive, Hypogonadism, Ren... |
OMIM:216400 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage |
OMIM:193235 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Foot acroosteolysis, Hypermobility of interphalangeal joints, Diffuse alveolar hemorrhage, Cigare... |
OMIM:130050 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, High, narrow palate, Bifid uvula, Hypogonadism, Abnormal dental enamel... |
ORPHA:2658 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Anteriorly placed anus, Obesity, Hypothermia, Overweight, Small for gestational age |
ORPHA:26793 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia... |
OMIM:181450 |
| Retinoblastoma |
|
Cellulitis, Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage... |
ORPHA:790 |
| Sotos Syndrome |
|
High, narrow palate, Sparse eyebrow, High anterior hairline, Tall stature, Cryptorchidism, Increa... |
OMIM:117550 |
| Sepsis In Premature Infants |
|
Temperature instability, Oliguria, Fever, Reversible renal failure, Hypothermia, Decreased body w... |
ORPHA:90051 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Umbilical hernia, Obesity, Aggressive behavior, Motor stereot... |
OMIM:301066 |
| Down Syndrome |
|
Narrow palate, Macroglossia, Umbilical hernia, Obesity, Type II diabetes mellitus, Protruding ton... |
ORPHA:870 |
| Summitt Syndrome |
|
Tall stature, Obesity, Camptodactyly of finger |
ORPHA:3210 |
| Say-Barber-Miller Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Hypogonadism, Elbow flexion contracture, Abnormality of th... |
ORPHA:3132 |
| Sarcoidosis |
|
Nephrocalcinosis, Alopecia, Fever, Diabetes insipidus, Parotitis, Enlargement of parotid gland, R... |
ORPHA:797 |
| Eales Disease |
|
Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic stroke, Vit... |
ORPHA:40923 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal hemorrhage, Elevated circulating creatine kinase concentration, Hema... |
OMIM:611773 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity, Synophrys |
OMIM:613192 |
| Townes-Brocks Syndrome 2 |
|
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Subdural hemorrhage, Elevated circulating creatine kinase concentration, ... |
OMIM:615368 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal temper tantrums, Cholelithiasis, Azoospermia, Cachexia, Delayed puberty, Gastric ulcer, ... |
ORPHA:2072 |
| Insulin-Like Growth Factor I, Resistance To |
|
Highly arched eyebrow, Thick eyebrow, Reduced subcutaneous adipose tissue, Agitation, Decreased b... |
OMIM:270450 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Horseshoe kidney, Cryptorchidism, Attention deficit hyperactivity disorder, Tra... |
OMIM:227646 |
| Oeis Complex |
|
Hydroureter, Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitali... |
OMIM:258040 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Hypercalciuria, Male infertility |
ORPHA:2239 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
High palate, Truncal obesity |
ORPHA:85280 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Sparse pubic ... |
OMIM:604292 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Hamartoma of tongue, Cryptorchidism |
ORPHA:1338 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Tracheomalacia, Bifid scrotum, Cryptorchidism, Congeni... |
OMIM:618280 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t... |
ORPHA:64739 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility |
OMIM:614874 |
| Bardet-Biedl Syndrome 21 |
|
Horseshoe kidney, Obesity, Overweight |
OMIM:617406 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Hypogonadism |
OMIM:610651 |
| Primrose Syndrome |
|
Sparse body hair, Cryptorchidism, Hip contracture, Absent axillary hair, Tics, High palate, Restl... |
OMIM:259050 |
| Williams Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Overfriendliness, Polycystic ovaries, Abnormal social ... |
ORPHA:904 |
| Xeroderma Pigmentosum |
|
Aminoaciduria, Alopecia, Failure to thrive, Fever, Hypogonadism, Decreased testicular size, Crypt... |
ORPHA:910 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Reduce... |
ORPHA:261197 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... |
ORPHA:2237 |
| Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptor... |
ORPHA:2473 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Sparse eyebrow, Highly... |
OMIM:614527 |
| White-Kernohan Syndrome |
|
Hydroureter, Horizontal eyebrow, Anteriorly placed anus, Horseshoe kidney, Obesity, Long eyelashe... |
OMIM:619426 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity, Hyperactivity |
ORPHA:397973 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Aplasia of the uterus, Thrombocytopenia, Fused cervical vertebrae |
ORPHA:3320 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tall stature, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy |
OMIM:618430 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight, Bulimia |
OMIM:614651 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Ketonuria, Fever, Hypothermia, Weight loss, Anorexia |
ORPHA:20 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Uterine neoplasm, Bile duct polyp, Abnormality of the ureter, Ovarian cyst, ... |
OMIM:175200 |
| Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization, Recurrent fractures |
OMIM:133780 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity, Stage 1 chronic kidney disease |
OMIM:618821 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Intestinal fistula, Umbilical hernia, Congenital hypothyroidism, Cr... |
ORPHA:709 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Umbilical hernia, Cryptorchidism, Hydronephrosis, Shawl scrotum, Hypochromic micr... |
OMIM:301040 |
| Cystinosis, Nephropathic |
|
Hematuria, Weight loss, Dysphagia, Male infertility, Aminoaciduria, Generalized aminoaciduria, Ma... |
OMIM:219800 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Tall stature, Cryptorchidism, Congenital diaphragmatic hernia, Abnormal pancreas mor... |
ORPHA:116 |
| Alkaptonuria |
|
Aminoaciduria, Aortic valve stenosis, Elevated urinary homogentisic acid, Joint stiffness, Dark u... |
ORPHA:56 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility |
ORPHA:244 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
OMIM:218700 |
| Idiopathic Aplastic Anemia |
|
Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Ecch... |
ORPHA:88 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Volvulus, Heat intolerance, Horseshoe kidney, Pyelonephritis, Vesico... |
OMIM:301111 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Bifid uvula, Failure to thrive, Obesity, Congenital diaphragmatic hernia... |
OMIM:616364 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Anal atresia,... |
OMIM:129900 |
| Wolfram Syndrome 2 |
|
Peptic ulcer, Neurogenic bladder, Oligomenorrhea, Primary amenorrhea, Diabetes insipidus, Diabete... |
OMIM:604928 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... |
OMIM:615954 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, High, narrow palate, Nephrocalcinosis, Obesity, Renal cyst, Hypercalciuria, H... |
ORPHA:369837 |
| Neu-Laxova Syndrome |
|
Bifid uvula, Hypogonadism, Abnormal hair morphology, External genital hypoplasia, Submucous cleft... |
ORPHA:2671 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congest... |
ORPHA:33226 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Truncal obesity, Anterior pituitary hypopl... |
OMIM:618160 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hirsutism, Hypothyroidism, Abnormality of the endocrin... |
ORPHA:77296 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Diabetes mellitus, Abdominal obesity |
OMIM:615980 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Shawl scrotum, Di... |
ORPHA:261265 |
| Digeorge Syndrome |
|
Ovarian cyst, High palate, High, narrow palate, Cholelithiasis, Parathyroid hypoplasia, Obesity, ... |
OMIM:188400 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Abnormal hair morphology, Hypoplasia of the thymus, Delayed puberty, Abnormal ... |
OMIM:208900 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Obesity, Type II diabetes mellitus, Inguinal hernia |
ORPHA:3191 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Fliedner-Zweier Syndrome |
|
Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hydron... |
OMIM:620511 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Obesity, Vesicoureteral reflux, Low anterior hairline, Proteinuria, Agang... |
ORPHA:261222 |
| Primary Familial Polycythemia |
|
Epistaxis, Abnormal bleeding, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Fraser-Like Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst |
OMIM:229230 |
| Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Esophageal atresia, Anterior pituitary hypoplasia,... |
OMIM:206900 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Multiple lipomas, Telangiectasia of the skin, Ovarian serous... |
ORPHA:276280 |
| Short Syndrome |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Inguinal hernia, Ovarian cyst, ... |
OMIM:269880 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Block vertebrae, Inguinal hernia, Aplasia of the vagina, Hydronephrosi... |
OMIM:271520 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g... |
ORPHA:991 |
| 22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Hypoparathyroidism, Anal atresia, Polycystic kidney dysplasia, Hypospadias, Chole... |
ORPHA:567 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Fine hair, Long eyelashes, Obesity, Overgrowth, Aggressive behavior, Narrow palate, Synophrys |
OMIM:620250 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis, Failure to thrive, Persistence of hemoglobin F, Exocrine pancreatic insufficien... |
OMIM:260400 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hypogonadism, Hip contracture, Flexion contracture, Synophrys |
ORPHA:3042 |
| Cowden Syndrome 1 |
|
Varicocele, Subcutaneous lipoma, Goiter, Lymphopenia, Ovarian carcinoma, Ovarian cyst, Hydrocele ... |
OMIM:158350 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Failure t... |
OMIM:256040 |
| Meacham Syndrome |
|
Abnormal vagina morphology, Hydrometrocolpos, Horseshoe kidney, Crossed fused renal ectopia, Cryp... |
ORPHA:3097 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Nail dystrophy, Cryptorchidism, Premature graying of hair |
OMIM:620365 |
| Peters-Plus Syndrome |
|
Renal hypoplasia, Facial hypertrichosis, Anteriorly placed anus, Umbilical hernia, Cryptorchidism... |
OMIM:261540 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology, Ileus, Aganglio... |
ORPHA:163746 |
| Elliptocytosis 3 |
|
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... |
OMIM:617948 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity |
OMIM:301013 |
| Atelis Syndrome 2 |
|
Vitreous hemorrhage, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis |
OMIM:620185 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Cryptorchidism, High palate, Motor stereotypy, Hypospadias, Self-injurious behavior, Keloids, Obe... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Cryptorchidism, High palate, Motor stereotypy, Hypospadias, Self-injurious behavior, Keloids, Obe... |
ORPHA:353277 |
| Somatomammotropinoma |
|
Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom... |
ORPHA:314769 |
| Rubinstein-Taybi Syndrome 1 |
|
Facial hypertrichosis, Frontal upsweep of hair, Cryptorchidism, Low posterior hairline, High pala... |
OMIM:180849 |
| Carpenter Syndrome 2 |
|
High, narrow palate, Narrow palate, Sparse eyebrow, Highly arched eyebrow, Bilateral cryptorchidi... |
OMIM:614976 |
| 6Q Terminal Deletion Syndrome |
|
High, narrow palate, Highly arched eyebrow, Failure to thrive, Obesity, Phimosis, Low anterior ha... |
ORPHA:75857 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... |
OMIM:614083 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Facial hypertrichosis, Failure to thrive, Abnormality of the hairline, Obesity, High palate |
OMIM:610543 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Varicocele, Nephrocalcinosis, Abnormal temper tantrums, Celiac disease, Stage... |
ORPHA:2044 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
High, narrow palate, Failure to thrive, Heat intolerance, Obesity, Thick eyebrow, Abnormality of ... |
ORPHA:369950 |
| Noonan Syndrome 1 |
|
High, narrow palate, Hypogonadism, Failure to thrive in infancy, Cryptorchidism, Low posterior ha... |
OMIM:163950 |
| Cowden Syndrome 6 |
|
Varicocele, Subcutaneous lipoma, Goiter, Ovarian cyst, Hydrocele testis |
OMIM:615109 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Aggressive behavior, Obesity |
OMIM:619056 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight, Hyperactivity, Dysphagia, Enuresis |
ORPHA:589821 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Hypothermia, Renal tubular dysfunction, Hematuria, Gastritis, Decreased urin... |
ORPHA:31826 |
| Myhre Syndrome |
|
Fine hair, Obesity, Thick eyebrow, Cryptorchidism, Camptodactyly, Sparse hair, Small for gestatio... |
OMIM:139210 |
| Cowden Syndrome 5 |
|
Subcutaneous lipoma, Hydrocele testis, Ovarian cyst, Goiter |
OMIM:615108 |
| Baller-Gerold Syndrome |
|
Bifid uvula, Anteriorly placed anus, Perineal fistula, High palate, Anal atresia, Rectovaginal fi... |
OMIM:218600 |
| Angelman Syndrome |
|
Fair hair, Obesity, Protruding tongue, Hyperactivity, Macroglossia, Paroxysmal bursts of laughter |
OMIM:105830 |
| Norrie Disease |
|
Self-injurious behavior, Uterine rupture, Failure to thrive, Cryptorchidism, Motor stereotypy, Ca... |
ORPHA:649 |
| Juvenile Xanthogranuloma |
|
Myeloproliferative disorder, Hyphema |
ORPHA:158000 |
| Leprechaunism |
|
Clitoral hypertrophy, Long penis, Nephrocalcinosis, Failure to thrive, Overgrowth of external gen... |
ORPHA:508 |
| Cohen Syndrome |
|
High, narrow palate, Decreased response to growth hormone stimulation test, Thick eyebrow, Childh... |
OMIM:216550 |
| Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Failure to thrive, Abnormality of the ut... |
ORPHA:201 |
| Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Oliguria, Hypothermia, Dicarboxylic aciduria |
ORPHA:159 |
| Camurati-Engelmann Disease |
|
Urinary retention, Hypogonadism, Slender build, Abnormal subcutaneous fat tissue distribution, Ca... |
ORPHA:1328 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, ... |
OMIM:615830 |
| Witteveen-Kolk Syndrome |
|
High, narrow palate, High anterior hairline, Microphallus, Male urethral meatus stenosis, Decreas... |
OMIM:613406 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Obesity, Nephronophthisis |
OMIM:615630 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Hypothermia, Failure to thrive |
OMIM:251880 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Unexplained fevers, Atypical scarring of skin, Recurrent fever, Fasciitis... |
ORPHA:642 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Fever, Hypothermia, Proteinuria, Myoglobinuria, Urinary incontinence, Dyspha... |
ORPHA:94093 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Enuresis nocturna, Obesity, Recurrent hand flapping, Submucous cleft hard palate, Aggressive beha... |
OMIM:619680 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased respo... |
ORPHA:293978 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Aminoaciduria, Chorioretinal scar, Beta 2-microglobulinuria, Sterile pyuria, E... |
ORPHA:91500 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Failure to thrive, Hypothermia, Lacticaciduria, Dysphagia |
ORPHA:255210 |
| Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Renal insufficiency, Hypothermia, Glossitis... |
ORPHA:79282 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Obesity, Thick eyebrow, Decreased body weight, Stereotypical hand wringing, Amelogenesis imperfec... |
OMIM:619229 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus, Supernumerary nipple |
ORPHA:1521 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Decreased response to growth hormone stimulation test, Horseshoe kidney, O... |
ORPHA:444077 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Failure to thrive, Abnormality of the ureter, Aganglionic megacolon, H... |
ORPHA:3339 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, High palate, Obesity |
ORPHA:2180 |
| Cockayne Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Congenital contracture, Contractures of the large jo... |
ORPHA:191 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... |
ORPHA:3455 |
| Occipital Horn Syndrome |
|
High, narrow palate, Atypical scarring of skin, Coarse hair, Keloids, Esophagitis, Inguinal herni... |
ORPHA:198 |
| Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity, Thick eyebrow, Compulsive behaviors, High palate, Synophrys |
OMIM:618443 |
| Phocomelia, Schinzel Type |
|
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... |
ORPHA:2879 |
| Adiposis Dolorosa |
|
Sparse pubic hair, Xerostomia, Obesity, Sparse axillary hair, Hypothyroidism |
ORPHA:36397 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Incontinentia Pigmenti |
|
Camptodactyly of finger, Supernumerary nipple, Congestive heart failure, Umbilical hernia, Cerebr... |
ORPHA:464 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... |
ORPHA:2241 |
| Beckwith-Wiedemann Syndrome |
|
Macroglossia, Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Adrenoc... |
OMIM:130650 |
| Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Hydronephrosis, Agangli... |
OMIM:236700 |
| Menkes Disease |
|
Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Hypothermia, Her... |
ORPHA:565 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus, Omphalocele |
ORPHA:2736 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Truncal obesity |
OMIM:620639 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Sparse eyebrow, Umbilical hernia, Obesity, Vesicoure... |
OMIM:620654 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Bruising susceptibilit... |
ORPHA:758 |
| Floating-Harbor Syndrome |
|
Varicocele, Nephrocalcinosis, Umbilical hernia, Glandular hypospadias, Long eyelashes, Cryptorchi... |
OMIM:136140 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... |
ORPHA:98855 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Prolonged bleeding following circumcision, Carpal synostosis, Horseshoe kidney, Hepatosplenomegal... |
OMIM:274000 |
| Ring Chromosome 7 Syndrome |
|
Bifid uvula, Highly arched eyebrow, Hypogonadism, Median cleft palate, Low anterior hairline, Hyd... |
ORPHA:1449 |
| Shox-Related Short Stature |
|
High palate, Obesity |
ORPHA:314795 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Clitoral hypertrophy, Failure to thrive, Abnormal dental enamel morpho... |
ORPHA:2556 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Ventral herni... |
ORPHA:468678 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... |
ORPHA:98853 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Obesity, Thick eyebrow |
ORPHA:85325 |
| Acquired Methemoglobinemia |
|
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia |
ORPHA:464453 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Inguinal hernia, Aplasia of the vagina, Joint hypermobility, Aplasia o... |
ORPHA:457284 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Bifid uvula, Multicystic kidney dysplasia, Hydroureter, Failure to thr... |
ORPHA:2461 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Failure to thrive, Subretinal pigment epithelium hemorrhage, Abnormal circulating apolipoprotein ... |
ORPHA:357074 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Overweight, Diabetes mellitus, Obesity |
ORPHA:69663 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Abnormal bleeding, Uterine rupture, Bruising susceptibility, Camptodac... |
ORPHA:60030 |
| Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, High, narrow palate, Alopecia, Camptodactyly of finger, Umbilical hern... |
ORPHA:3107 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Bifid scrotum, Shawl scrotum, Hypospadias, Epispadias |
ORPHA:2211 |
| Chromosome 3Q29 Duplication Syndrome |
|
Low posterior hairline, Obesity |
OMIM:611936 |
| Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Anal stenosis, Bifid scrotum, Sma... |
OMIM:107480 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cryptorchidism, Shawl scrotum, Micropenis, Hypospadias, Cleft palate |
OMIM:600460 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Micronodular cirrhosis, Punctate vasculitis skin lesions, Hematuria,... |
OMIM:192315 |
| Williams-Beuren Syndrome |
|
Premature graying of hair, Obsessive-compulsive trait, Celiac disease, Rectal prolapse, Failure t... |
OMIM:194050 |
| Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Temperature instability, Tongue thrusting |
OMIM:608643 |
| Momo Syndrome |
|
Tall stature, Obesity, Large for gestational age, Overgrowth, High palate |
ORPHA:2563 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Accessory spleen, Failure to thrive, Cryptorchidism, Biliary tract abnormalit... |
OMIM:194190 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Umbilical hernia, Persistence of hemoglobin F, Hiatus hernia, Overweight, Increased size of nasop... |
OMIM:619769 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity, Achilles tendon contracture |
OMIM:615418 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Self-injurious behavior, Obesity, Thick eyebrow, Hirsutism, Aggressive behavior, Attention defici... |
ORPHA:466950 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Joint hypermobility, Persistence of hemoglobin F |
OMIM:617101 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Cryptorchidism, Hydronephro... |
ORPHA:49 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus, Obesity |
ORPHA:563 |
| Rift Valley Fever |
|
Gingival bleeding, Abnormal bleeding, Hepatitis, Retinal hemorrhage, Hematuria, Hematemesis, Thro... |
ORPHA:319251 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgenesis, Omphaloce... |
OMIM:236680 |
| Wiedemann-Rautenstrauch Syndrome |
|
Lipoatrophy, Sparse eyebrow, Long penis, Alopecia, Failure to thrive, Alopecia of scalp, Cryptorc... |
OMIM:264090 |
| Generalized Pustular Psoriasis |
|
Fever, Obesity, Renal insufficiency, Geographic tongue, Overweight |
ORPHA:247353 |
| Incontinentia Pigmenti |
|
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplastic nipples, Eosin... |
OMIM:308300 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Cryptorchidism, Congenital diaphragmatic h... |
OMIM:135900 |
| African Trypanosomiasis |
|
Alopecia, Abnormality of the menstrual cycle, Renal insufficiency, Abnormality of circulating cor... |
ORPHA:3385 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Urinary incontinence, Unilateral renal hypoplasia, Ureteropelvic junction ... |
ORPHA:2729 |
| Phacoanaphylactic Uveitis |
|
Retinal arteritis, Hyphema |
ORPHA:209959 |
| Pallister-Killian Syndrome |
|
Small scrotum, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Sparse eyel... |
OMIM:601803 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Subdural hemorrhage,... |
ORPHA:90324 |
| Momo Syndrome |
|
Overgrowth, High palate, Obesity |
OMIM:157980 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Inflammation of the large intestine, Fever, Abnormality of the menstrual cycle, Hypo... |
ORPHA:906 |
| Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Overgrowth, Obesity, Highly arched eyebrow |
OMIM:620155 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Cholesterol gallstones, Obesity |
ORPHA:209902 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Elbow flexion contracture, Cryptorchidism, Humeroradial synostosis, Decreased calv... |
OMIM:276820 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Long eyelashes, Obesity, Broad lateral eyebrow |
OMIM:608624 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Uterine rupture, Bruising susceptibility, Cigarette-paper scars, Umbilical her... |
ORPHA:286 |
| 1P21.3 Microdeletion Syndrome |
|
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior,... |
ORPHA:293948 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Self-injurious behavior, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:466943 |
| Neu-Laxova Syndrome 1 |
|
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Cryptorchi... |
OMIM:256520 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Trichiasis, Xerostomia, Aty... |
ORPHA:95455 |
| Achondroplasia |
|
Obesity |
ORPHA:15 |
| 3Q29 Microduplication Syndrome |
|
Obesity, Camptodactyly of toe, Ectopic anus, High palate, Cleft palate |
ORPHA:251038 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst |
ORPHA:454840 |
| Retinoblastoma |
|
Pinealoma, Vitreous hemorrhage, Leukemia |
OMIM:180200 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Type II diabetes mellitus |
OMIM:618620 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Thyrotoxic Periodic Paralysis |
|
Graves disease, Urinary retention, Obesity, Decreased urinary potassium, Weight loss, Hyperthyroi... |
ORPHA:79102 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
| Generalized Arterial Calcification Of Infancy |
|
Nephrocalcinosis, Osteomalacia, Failure to thrive in infancy, Cortical nephrocalcinosis, Medullar... |
ORPHA:51608 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Renal artery stenosis, Pituitary ... |
ORPHA:1435 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Limited hip ... |
OMIM:614653 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Renal hypoplasia, Failure to thrive, Obesity, Pseudohypoparathyroidism, Frontal hirsutism, High p... |
OMIM:617157 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Clitoral hypertrophy, Renal hypoplasia, Enlarged labia minora, Cryptor... |
ORPHA:3404 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Obesity, Overweight, Dysphagia |
ORPHA:2822 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Weight loss, Granulomatosis, Retinal hemorrhage, Localized pulmonary... |
OMIM:608710 |
| Diamond-Blackfan Anemia 21 |
|
Coarse hair, Horizontal eyebrow, Obesity, Widow's peak, Synophrys |
OMIM:620072 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Dysbetalipoproteinemia |
|
Obesity, Hypothyroidism, Diabetes mellitus |
ORPHA:412 |
| Desbuquois Dysplasia 2 |
|
Bifid uvula, Synophrys, Cleft palate, Truncal obesity |
OMIM:615777 |
| Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Hepatic cysts, Ovarian cyst, Proteinuria, Hypertension, Enamel hypoplasia, Panc... |
OMIM:311200 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Intraretinal hemorrhage |
ORPHA:411527 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
| Xylt1-Cdg |
|
Truncal obesity, Hirsutism, Cleft palate, Synophrys |
ORPHA:370930 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
| Cystic Fibrosis |
|
Failure to thrive, Meconium ileus, Ileus, Hypercalciuria, Steatorrhea, Rectal prolapse, Male infe... |
OMIM:219700 |
| Congenital Analbuminemia |
|
Obesity, Lipodystrophy, Small for gestational age |
ORPHA:86816 |
| Monosomy 22Q13.3 |
|
Umbilical hernia, Bruxism, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Long eyelash... |
ORPHA:48652 |
| Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Inguinal hernia |
OMIM:614947 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Failure to thrive, Fine hair, Oroticaciduria, Stage 5 chronic kidn... |
OMIM:222700 |
| Pierson Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Hypertension, Diffuse mesangial sclerosis, Retinal h... |
OMIM:609049 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Truncal obesity, Abdominal obesity |
OMIM:615812 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Flexion contracture, Truncal obesity |
OMIM:301072 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Bifid uvula, Highly arched eyebrow, Frontal balding, Failure to thrive, ... |
OMIM:612474 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Elevated circulating creatine kinase concentration, ... |
OMIM:175780 |
| Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
| Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Obesity |
ORPHA:70591 |
| Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |
