Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... |
ORPHA:1646 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Perrault Syndrome 3 |
|
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... |
OMIM:614129 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... |
ORPHA:432 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... |
OMIM:619177 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... |
OMIM:618841 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Short stature, Secondary ame... |
ORPHA:243 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Satoyoshi Syndrome |
|
Short stature, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Neph... |
ORPHA:3130 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, Ab... |
OMIM:194072 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Short stature, Absence of secondary sex characteristics, Anterior hypopituit... |
ORPHA:2235 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... |
ORPHA:347 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Bardet-Biedl Syndrome |
|
Hypogonadism, Short stature, Hypoplasia of penis, Hypoplasia of the ovary, Cryptorchidism, Obesity |
ORPHA:110 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... |
ORPHA:2232 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance |
ORPHA:140941 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Insulin resistance, Hepatic steatosis, Oligo... |
OMIM:615703 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... |
ORPHA:79084 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young |
OMIM:609812 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... |
ORPHA:1916 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Oligomenorrhea, Maternal diabetes, Insuli... |
OMIM:604367 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance |
OMIM:614662 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia |
ORPHA:181393 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation |
OMIM:616113 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Insulin resistance, Insulin-resistant diabetes mellitus, Oligomenorrhea |
OMIM:613877 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... |
ORPHA:552 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Prima... |
OMIM:612526 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Micropenis, Postnat... |
OMIM:300067 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Decreased serum testosterone concentration... |
OMIM:273250 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Short stature, Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hy... |
ORPHA:1643 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin resistance, Polycystic ovaries, Insulin-resistant diabetes m... |
ORPHA:90301 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... |
ORPHA:572333 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Leopard Syndrome 1 |
|
Aplasia of the ovary, Short stature, Hypoplasia of the ovary, Hypospadias, Delayed puberty, Crypt... |
OMIM:151100 |
Familial Renal Glucosuria |
|
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia |
ORPHA:69076 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Insulin-resistant diab... |
ORPHA:79085 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Decreased testicular size, Hypoplasia of the ovary, Intrauterine growth retardatio... |
OMIM:619321 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus |
OMIM:608996 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Gray matter heterotopia, Polymicrogyria, Hypospadias, Gonadal dysgenesi... |
OMIM:618820 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Abnormality of the hypothala... |
ORPHA:2183 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... |
ORPHA:8 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Cirrhosis, Secondary amenorrhea, Oligomenorrhea, Maternal diabetes, Insulin r... |
ORPHA:79083 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus |
ORPHA:2578 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Miscarriage, Enlarged uterus |
ORPHA:99927 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Short stature, Abnormality of the ovary, Hypoplasia of the ut... |
ORPHA:247768 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary... |
OMIM:617690 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... |
ORPHA:754 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:619737 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Erectile dysfunction, Diabe... |
ORPHA:465508 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia |
ORPHA:2089 |
Donohue Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Pancreatic islet-cel... |
OMIM:246200 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Diabetes mellitus, Insulin resistance |
OMIM:615980 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Biliary cirrhosis, Fasting hypoglycemia, Enlarged polycystic ovaries, Enlarged ... |
ORPHA:2298 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Polycy... |
ORPHA:90970 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Insulin resistance |
OMIM:617885 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Hypoplastic nipples, Rhizomelia, Bicornuate uterus |
ORPHA:79328 |
Mccune-Albright Syndrome |
|
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... |
ORPHA:562 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Irregular menstruation |
OMIM:615986 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Pol... |
ORPHA:2348 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Hepatic steatosis, Diabetes mellitus, Male hypogonadism, Hepatomegaly, Crypto... |
OMIM:615381 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Lead Poisoning |
|
Small for gestational age, Decreased female libido, Infertility, Decreased circulating osteocalci... |
ORPHA:330015 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Cryptorchidism |
OMIM:175700 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Macronodular adrenal hyperplasia |
OMIM:615954 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Lipe-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Insulin-resistant diab... |
ORPHA:435660 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypopituitarism, Glucose intolerance |
OMIM:144600 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic... |
ORPHA:528 |
Spondylometaphyseal Dysplasia, Axial |
|
Disproportionate short-trunk short stature, Reduced sperm motility, Rhizomelia, Short stature |
OMIM:602271 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Short stature, Growth delay, Hypogonadism |
OMIM:618165 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impotence, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomeg... |
OMIM:606069 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus |
OMIM:601076 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ... |
ORPHA:280679 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... |
ORPHA:254516 |
Fanconi-Bickel Syndrome |
|
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... |
ORPHA:2088 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Severe short stature, Primary amenorrhea, Intrauterine growth retardation... |
OMIM:614851 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Abnormality of the scrotum, Microphallus, Bifid scrotum, Small for gestational ag... |
ORPHA:397590 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:261519 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... |
ORPHA:361 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Ovarian cyst, Glucose int... |
OMIM:269880 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
X-Linked Intellectual Disability, Snyder Type |
|
Short stature, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism |
ORPHA:3063 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Insulin resistance, Hepatic steatosis, Diabetes mellitus,... |
OMIM:617253 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Short stature, Small for gestational age, Severe intrauterine growth retardation, F... |
ORPHA:73272 |
Aromatase Deficiency |
|
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... |
ORPHA:91 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Weight loss, Hypogonadism, Abnormal testis morphology, Oligospermia, ... |
ORPHA:85450 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ... |
OMIM:300845 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia |
OMIM:609069 |
Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism, Type II diab... |
OMIM:602668 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Death in infancy, External genital hypoplasia, Miscarriage, Cryptorchidism, Neonat... |
OMIM:613390 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Hypospadias, Annular pancreas, Streak ovary, Failure to thrive in infancy... |
ORPHA:798 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic... |
ORPHA:96179 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Severe postnatal growth retardation, Hydrocele testis, Anteriorly displace... |
OMIM:266810 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Gapo Syndrome |
|
Hypogonadism, Short stature, Oligospermia, Growth delay, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Growth delay |
OMIM:613987 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Polycystic ov... |
OMIM:151660 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... |
ORPHA:1359 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hypospadi... |
OMIM:614732 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Decreased body weight, Short stature, Small for gestational age, Unilateral ... |
OMIM:616489 |
Satoyoshi Syndrome |
|
Short stature, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis |
ORPHA:391673 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Growth delay, Hypogonadism |
OMIM:615234 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Polycysti... |
ORPHA:79086 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Cryptorchidism |
OMIM:214150 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Rhizomelia, Small for gestational age, Clitoral hypoplasia, Oligospermia, Failure to thrive, Diab... |
OMIM:614813 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
3-Methylglutaconic Aciduria, Type V |
|
Decreased testicular size, Failure to thrive, Hypospadias, Cryptorchidism, Intrauterine growth re... |
OMIM:610198 |
Aarskog-Scott Syndrome |
|
Short stature, Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentratio... |
OMIM:305400 |
Myotubular Myopathy With Abnormal Genital Development |
|
Penile hypospadias, Bifid scrotum, Death in infancy, Bilateral cryptorchidism, Ambiguous genitali... |
OMIM:300219 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... |
OMIM:613807 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent inner dynein arms, Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Growth delay |
OMIM:222300 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypopituitarism |
ORPHA:90065 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Portal hypertension |
ORPHA:440713 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cell... |
ORPHA:99885 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Diabetic ketoacidosis, Enlarged ovaries, Insulin resistance, Increase... |
ORPHA:769 |
Werner Syndrome |
|
Decreased fertility, Abnormal testis morphology, Hypogonadism, Secondary amenorrhea, Type II diab... |
ORPHA:902 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Retrograde ejaculation |
ORPHA:230 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
Ciliary Dyskinesia, Primary, 40 |
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Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Beta-Ketothiolase Deficiency |
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Hyperglycemia, Hypoglycemia, Hepatomegaly |
ORPHA:134 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperinsulinemia, Impaired glucose tolerance, Hepatomegaly, Insulin-resistant diabetes mellitus, ... |
OMIM:248370 |
Congenital Factor Vii Deficiency |
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Ovarian cyst, Menorrhagia |
ORPHA:327 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Secondary amenorrhea, Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Pol... |
ORPHA:280365 |
Testicular Agenesis |
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Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Dend Syndrome |
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Hyperglycemia |
ORPHA:79134 |
Renal Cysts And Diabetes Syndrome |
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Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... |
OMIM:137920 |
Bloom Syndrome |
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Small for gestational age, Premature ovarian insufficiency, Azoospermia, Oligospermia, Diabetes m... |
ORPHA:125 |
Limb-Mammary Syndrome |
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Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Primary amenorrhea, H... |
ORPHA:69085 |
Ciliary Dyskinesia, Primary, 15 |
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Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
Monosomy 13Q34 |
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Hepatic steatosis, Metrorrhagia, Insulin resistance |
ORPHA:96168 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
Hypoplasminogenemia |
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Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Vaginal Atresia |
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Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag... |
OMIM:146255 |
Pancreatic Agenesis 2 |
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Pancreatic hypoplasia, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:615935 |
Late-Onset Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... |
ORPHA:556037 |
Whipple Disease |
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Erectile dysfunction, Insulin resistance, Splenomegaly, Hepatomegaly |
ORPHA:3452 |
Silver-Russell Syndrome |
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Decreased testicular size, Insulin resistance, Recurrent hypoglycemia, Cryptorchidism |
ORPHA:813 |
8P11.2 Deletion Syndrome |
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Hypogonadism, Short stature, Azoospermia, Hypoplasia of penis, Growth delay, Cryptorchidism, Hypo... |
ORPHA:251066 |
Short Syndrome |
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Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Irregular menstruation, Short stature, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea, Postnata... |
ORPHA:79240 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Growth delay, Abnormality of th... |
ORPHA:300298 |
46,Xy Sex Reversal 4 |
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Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen... |
OMIM:154230 |
Acromesomelic Dysplasia 3 |
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Disproportionate short-limb short stature, Elevated circulating luteinizing hormone level, Hyperg... |
OMIM:609441 |
Ciliary Dyskinesia, Primary, 22 |
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Absent inner and outer dynein arms, Reduced sperm motility, Infertility |
OMIM:615444 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... |
OMIM:110100 |
Early-Onset Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... |
ORPHA:556030 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Bardet-Biedl Syndrome 1 |
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Hypogonadism, Decreased testicular size, Abnormality of the ovary, Nephrogenic diabetes insipidus... |
OMIM:209900 |
Cidec-Related Familial Partial Lipodystrophy |
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Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hepat... |
ORPHA:435651 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
Woodhouse-Sakati Syndrome |
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Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Premat... |
OMIM:241080 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:613327 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Short stature |
OMIM:300322 |
Thalidomide Embryopathy |
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Insulin resistance |
ORPHA:3312 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Diabetes mellitus, Insulin resistance, Cryptorchidism |
OMIM:616541 |
Atypical Werner Syndrome |
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Decreased fertility, Hyperinsulinemia, Abnormal testis morphology, Secondary amenorrhea, Glycosur... |
ORPHA:79474 |
Denys-Drash Syndrome |
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Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... |
OMIM:194080 |
Bloom Syndrome |
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Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Azoospermia... |
OMIM:210900 |
Familial Multiple Lipomatosis |
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Insulin resistance |
ORPHA:199276 |
Lumbar Syndrome |
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Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... |
ORPHA:83628 |
Marbach-Rustad Progeroid Syndrome |
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Insulin resistance |
OMIM:619322 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis, Hepatic steatosis, Hypoglycem... |
OMIM:124000 |
Testicular Germ Cell Tumor |
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Azoospermia |
OMIM:273300 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Reduced sperm motility |
OMIM:615434 |
Pyruvate Carboxylase Deficiency |
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Hyperglycemia, Hypoglycemia, Hepatomegaly |
ORPHA:3008 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin resistance, Breast aplasia |
ORPHA:90153 |
Ciliary Dyskinesia, Primary, 5 |
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Reduced sperm motility |
OMIM:608647 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Glycosuria, Diabetes mellitus, Hyperg... |
OMIM:600001 |
Primary Ciliary Dyskinesia |
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Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Fasting hypoglycemia, Insulin resistance, Decreased response to growth hormone stimulation test, ... |
ORPHA:96182 |
Leprechaunism |
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Hyperinsulinemia, Enlarged ovaries, Insulin resistance, Recurrent infantile hypoglycemia, Postpra... |
ORPHA:508 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Insulin resistance |
ORPHA:90154 |
Scorpion Envenomation |
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Hyperglycemia, Acute pancreatitis, Priapism, Glycosuria |
ORPHA:466677 |
Alström Syndrome |
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Oligospermia, Decreased circulating T4 concentration, Delayed menarche, Type II diabetes mellitus... |
ORPHA:64 |
Von Hippel-Lindau Syndrome |
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Pancreatic cysts, Neoplasm of the pancreas, Pheochromocytoma, Epididymal cyst, Paraganglioma, Pap... |
OMIM:193300 |
Gitelman Syndrome |
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Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the pancreas, ... |
ORPHA:358 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diabetes mellitus, Hypoparathyroi... |
ORPHA:2237 |
Exstrophy-Epispadias Complex |
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Female sexual dysfunction, Absent penis, Bifid scrotum, Penoscrotal transposition, Male sexual dy... |
ORPHA:322 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Reduced progressive sperm motility |
OMIM:619608 |
Tetrasomy 9P |
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Absent gallbladder, Infertility, Intrauterine growth retardation, Lissencephaly, Oligospermia, Pa... |
ORPHA:3310 |
Steinert Myotonic Dystrophy |
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Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... |
ORPHA:273 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... |
ORPHA:293987 |
Townes-Brocks Syndrome 2 |
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Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hyperglycemia, Decreased response to growth hormone stimulation test |
ORPHA:444077 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Lipodystrophy, Familial Partial, Type 7 |
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Recurrent pancreatitis, Impaired glucose tolerance, Insulin resistance, Type I diabetes mellitus,... |
OMIM:606721 |
Phocomelia, Schinzel Type |
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Hypoplasia of penis, Disproportionate short stature, Aplasia of the uterus, Cryptorchidism, Intra... |
ORPHA:2879 |
Oeis Complex |
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Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... |
OMIM:258040 |
Chromosome 17Q12 Deletion Syndrome |
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Unicornuate uterus, Short stature, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovar... |
OMIM:614527 |
Von Hippel-Lindau Disease |
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Pancreatic cysts, Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm ... |
ORPHA:892 |
Autosomal Dominant Polycystic Kidney Disease |
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Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma |
ORPHA:730 |
Pontocerebellar Hypoplasia Type 7 |
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Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
Thyrotoxic Periodic Paralysis |
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Postprandial hyperglycemia |
ORPHA:79102 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hyperglycemia, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic stea... |
OMIM:220111 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus |
OMIM:271520 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:99413 |
Turner Syndrome |
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High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:881 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:99226 |
Floating-Harbor Syndrome |
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Precocious puberty, Short stature, Congenital posterior urethral valve, Small for gestational age... |
ORPHA:2044 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
ORPHA:3320 |
Meckel Syndrome 14 |
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Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Floating-Harbor Syndrome |
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Short stature, Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele, Cry... |
OMIM:136140 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple |
ORPHA:1521 |
Fanconi Anemia, Complementation Group L |
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Growth delay, Aplasia of the uterus, Micropenis, Intrauterine growth retardation |
OMIM:614083 |
Hydrolethalus Syndrome 1 |
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Gray matter heterotopia, Abnormal cortical gyration, Bifid uterus, Hypospadias, Adrenal gland dys... |
OMIM:236680 |
Norrie Disease |
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Cachexia, Uterine rupture, Erectile dysfunction, Failure to thrive, Delayed puberty, Diabetes mel... |
ORPHA:649 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Short stature, Small for gestational age, Aplasia of the uterus, Hypospadias,... |
OMIM:194190 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Insulin resistance, Delayed menarche |
ORPHA:740 |
Pmm2-Cdg |
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Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating thyroid-sti... |
ORPHA:79318 |
Neu-Laxova Syndrome 1 |
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Lissencephaly, Bifid uterus, Stillbirth, Cryptorchidism, Neonatal death, Intrauterine growth reta... |
OMIM:256520 |
Cardiac-Urogenital Syndrome |
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Ambiguous genitalia, Bifid scrotum, Unilateral cryptorchidism, Aplasia of the uterus, Penoscrotal... |
OMIM:618280 |
Thrombocytopenia-Absent Radius Syndrome |
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Pancreatic cysts, Aplasia of the uterus, Short stature, Death in infancy |
OMIM:274000 |
Townes-Brocks Syndrome 1 |
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Hypothyroidism, Bifid scrotum, Small for gestational age, Rectoperineal fistula, Bifid uterus, Hy... |
OMIM:107480 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cervical insufficiency, Short stature, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse |
OMIM:130050 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Disproportionate short statur... |
OMIM:276820 |
Coffin-Siris Syndrome 1 |
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Short stature, Aplasia of the uterus, Hypospadias, Cryptorchidism, Intrauterine growth retardatio... |
OMIM:135900 |
Okamoto Syndrome |
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Bifid uterus, Severe postnatal growth retardation |
ORPHA:2729 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
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Mesomelic/rhizomelic limb shortening, Rhizomelia, Labial hypoplasia, Aplasia of the upper vagina,... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
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Short stature, Uterine rupture, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse |
ORPHA:286 |
Proximal 16P11.2 Microdeletion Syndrome |
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Failure to thrive, Obesity |
ORPHA:261197 |
Distal 16P11.2 Microdeletion Syndrome |
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Obesity |
ORPHA:261222 |