| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
| Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
| Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
| Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| 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 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
| Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| 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 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
| Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... |
ORPHA:280356 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Congenital Generalized Lipodystrophy |
|
Hypertrichosis, Bone cyst, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hypertrophy, P... |
ORPHA:528 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... |
ORPHA:79084 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Insu... |
OMIM:604367 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Brachydac... |
ORPHA:3085 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Low anterior hairline, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Osteoporosis, Joint lax... |
OMIM:616033 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, ... |
ORPHA:79299 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Excessi... |
ORPHA:324575 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Osteopenia, Primary amenorrhea, ... |
OMIM:615363 |
| Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... |
OMIM:619489 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
| Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Aromatase Deficiency |
|
Delayed epiphyseal ossification, Generalized hirsutism, Female infertility, Ambiguous genitalia, ... |
ORPHA:91 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... |
ORPHA:276608 |
| Hemochromatosis, Type 1 |
|
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Hepatomegaly, Alopecia, Splenomeg... |
OMIM:235200 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Generalized hirsutism, Hyperinsulinemia, Reduced intraabdomi... |
ORPHA:363400 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t... |
ORPHA:71529 |
| Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
| Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus,... |
ORPHA:785 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... |
OMIM:608594 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
| Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
| Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Atypical scarring... |
ORPHA:791 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... |
ORPHA:66628 |
| Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Bruising susceptibility, Metrorrhagia, Abnormal bleeding, Fractu... |
ORPHA:464329 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... |
OMIM:269700 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hypoplasia of penis, Inguinal hernia, Hepatomegal... |
ORPHA:2849 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
| Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Erectile dysfunction, Chronic hepatic failu... |
ORPHA:465508 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Alopecia, Osteopenia, Down-s... |
OMIM:248370 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Increased bone mineral density |
OMIM:618406 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hyperin... |
OMIM:151660 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Short clavicles, Hyperinsulinemia, Sparse hair, Flexion contracture, Alopeci... |
OMIM:608612 |
| Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Generalized... |
ORPHA:79086 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increase... |
ORPHA:263455 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hypertrichosis, Precocious puberty, Hyperinsulinemia, Small for gesta... |
OMIM:262190 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Short clavicles, Hyperinsulinemia, Increased adipose tissue around the neck,... |
ORPHA:2457 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Severe failure ... |
OMIM:246200 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
| Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
| Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Dev... |
ORPHA:1227 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Prader-Willi Syndrome |
|
Hyperinsulinemia, External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasi... |
OMIM:176270 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Sudden cardiac death, Gout, Osteoporosis, Impaired glucose tolerance, Myocar... |
OMIM:610947 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... |
OMIM:203800 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... |
ORPHA:369873 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
| Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Small for gestational age |
ORPHA:90050 |
| 47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Syndactyly, ... |
OMIM:601163 |
| Atypical Werner Syndrome |
|
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Alopecia, Finger clinodactyly, Gl... |
ORPHA:79474 |
| Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Streak ovary, Alopecia, Osteopenia, Hypogonadism, Hypoplasia of the uterus, Dec... |
ORPHA:3464 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovari... |
ORPHA:2298 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... |
ORPHA:752 |
| Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hepatic failure, Hemothorax, Myocardit... |
ORPHA:99827 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... |
OMIM:613327 |
| Classic Galactosemia |
|
Action tremor, Hepatomegaly, Reduced bone mineral density, Postural tremor, Hepatic failure, Olig... |
ORPHA:79239 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Melena, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Hema... |
ORPHA:464321 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
| Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
| Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Abnormal circulating insulin concentratio... |
ORPHA:552 |
| Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, P... |
OMIM:612526 |
| Mpi-Cdg |
|
Failure to thrive, Decreased liver function, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... |
ORPHA:79319 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
| Aarskog-Scott Syndrome |
|
Testicular atrophy, Single transverse palmar crease, Shawl scrotum, Widow's peak, Bilateral crypt... |
OMIM:305400 |
| Hemochromatosis, Type 4 |
|
Glucose intolerance, Impotence, Hepatomegaly, Cirrhosis, Osteoarthritis, Arrhythmia, Impaired glu... |
OMIM:606069 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Failure to thrive, Clinodactyly of the 5th finger, Intention tremor, Tapered... |
OMIM:614407 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hepatomegaly, Insulin resistance, Loss of gluteal subcu... |
ORPHA:435660 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... |
ORPHA:91351 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertrichosis, Long penis, Clitoral hypertrophy, Precocious... |
ORPHA:769 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
| Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Alopecia,... |
ORPHA:453533 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Hyperinsulinemia, Short sternum, Alopecia, Osteopenia, Primary amenorrhea, Ir... |
ORPHA:99413 |
| Turner Syndrome |
|
Female infertility, Hyperinsulinemia, Short sternum, Alopecia, Osteopenia, Primary amenorrhea, Ir... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Female infertility, Hyperinsulinemia, Short sternum, Alopecia, Osteopenia, Primary amenorrhea, Ir... |
ORPHA:99228 |
| Monosomy X |
|
Female infertility, Hyperinsulinemia, Short sternum, Alopecia, Osteopenia, Primary amenorrhea, Ir... |
ORPHA:99226 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly, Short 5th metacarpal |
ORPHA:66518 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hyper... |
ORPHA:508 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Acr... |
ORPHA:280365 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Abnormal libido, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fa... |
ORPHA:189439 |
| Lujo Hemorrhagic Fever |
|
Excessive bleeding after a venipuncture, Resting tremor, Fulminant hepatitis, Myocarditis, Hypote... |
ORPHA:319213 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Lipodystrophy, Increase... |
ORPHA:79085 |
| Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... |
OMIM:619938 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
| Exudative Vitreoretinopathy 4 |
|
Osteopenia, Vitreous hemorrhage |
OMIM:601813 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Abnormal bleedin... |
OMIM:602579 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
| Marburg Hemorrhagic Fever |
|
Petechiae, Orchitis, Excessive bleeding after a venipuncture, Bruising susceptibility, Pancreatit... |
ORPHA:99826 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... |
OMIM:278850 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... |
OMIM:308750 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased ... |
ORPHA:432 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Alopecia, Neuroendocrine neoplasm, Abnormal libido, Increased body weight, Macronodular adrenal h... |
ORPHA:189427 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomenorrhea, Hepatic ... |
ORPHA:435651 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Hypoketotic hypoglycemia... |
ORPHA:71212 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin, Lipodystroph... |
OMIM:615238 |
| Hemorrhagic Fever-Renal Syndrome |
|
Melena, Petechiae, Decreased body weight, Hematemesis, Palpitations, Tachycardia, Intracranial he... |
ORPHA:340 |
| Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... |
ORPHA:330015 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
| African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
| Wolfram Syndrome 1 |
|
Testicular atrophy, Limited mobility of proximal interphalangeal joint, Hypothyroidism, Tremor, D... |
OMIM:222300 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... |
ORPHA:91349 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Neoplasm of the liver, Uterine neoplasm, Hypoinsulinemia, Prostate canc... |
ORPHA:2126 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
| Prolactinoma |
|
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Osteopenia, ... |
ORPHA:2965 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization, Reduced bone mineral den... |
ORPHA:891 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Frontal balding, Hypogonadism, Atrial fibrillation, Atrial fl... |
OMIM:160900 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization |
OMIM:193235 |
| Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus,... |
OMIM:602668 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Orthostatic hypotension, Syncope, Hypoglycemia, Orthostatic syncope, Retrograde... |
ORPHA:230 |
| Steinert Myotonic Dystrophy |
|
Cholelithiasis, Testicular atrophy, Impotence, Hyperinsulinemia, Alopecia, Hypergonadotropic hypo... |
ORPHA:273 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Eales Disease |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic s... |
ORPHA:40923 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure |
ORPHA:85450 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Exudative Vitreoretinopathy 1 |
|
Recurrent fractures, Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Impotence, Decreased fertility in males, Central adrenal insufficien... |
ORPHA:91347 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Retinal Venous Beading |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:180080 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Glucose intolerance, Hirsutism, Pituitary adenoma, Bruising susceptibility, In... |
OMIM:219090 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... |
ORPHA:1916 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Sparse pubic ha... |
OMIM:110100 |
| Leptospirosis |
|
Hepatomegaly, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Hepatitis, Eleva... |
ORPHA:509 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Overlapping toe, Talipes equinovarus, Exaggerated startle response, Flexion cont... |
OMIM:617301 |
| Gapo Syndrome |
|
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism |
ORPHA:2067 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hydrocele testis, Broad hallux, Genu valgum, Calcaneovalgus deformity, Hyphema, Chordee, Long hal... |
ORPHA:261552 |
| Incontinentia Pigmenti |
|
Abnormal dental enamel morphology, Absent hand, Telangiectasia of the skin, Supernumerary nipple,... |
ORPHA:464 |
| Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Polysplenia, Abnormal sperm motility, Asplenia, Clubbing |
ORPHA:244 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Testicular atrophy, Nail dystrophy |
OMIM:613987 |
| Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Decreased fertility in males, Abnormal liver physiology, Hepatome... |
ORPHA:64 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Thick eyebrow, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypo... |
ORPHA:572333 |
| Retinoblastoma |
|
Vitreous hemorrhage, Cellulitis, Subretinal pigment epithelium hemorrhage, Pineoblastoma, Hyphema |
ORPHA:790 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Seckel Syndrome 10 |
|
Glucose intolerance, Metaphyseal widening, Cone-shaped epiphysis, Elevated circulating luteinizin... |
OMIM:617253 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
| Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... |
ORPHA:95699 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
| Liver Disease, Severe Congenital |
|
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Systolic hear... |
OMIM:619991 |
| Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
| Pmm2-Cdg |
|
Angina pectoris, Multiple joint contractures, Hyperinsulinemia, Osteopenia, Increased circulating... |
ORPHA:79318 |
| Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Hypertension, Restrictive c... |
ORPHA:758 |
| Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Retinal hemorrhage, Flexion contracture, Small for gestational age |
OMIM:615368 |
| Tenorio Syndrome |
|
Hypertrichosis, Thick eyebrow, Hypoinsulinemia, Raynaud phenomenon, Osteopenia, Syncope, Hypoglyc... |
OMIM:616260 |
| Gm1 Gangliosidosis Type 1 |
|
Broad metacarpals, Flattened femoral head, Hirsutism, Exaggerated startle response, Flared iliac ... |
ORPHA:79255 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Micronodular cirrhosis, Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Elevated ... |
OMIM:192315 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Resting tremor, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary... |
OMIM:157640 |
| Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage, Athetosis, Tremor, Limb dystonia, Fasting hypoglycemia, ... |
ORPHA:25 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus |
OMIM:614813 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Failure to thrive, Hirsutism, Exaggerated startle response, Hyperextensibility of the finger join... |
ORPHA:521426 |
| X-Linked Intellectual Disability, Snyder Type |
|
Recurrent fractures, Testicular atrophy, Sparse eyebrow, Arachnodactyly, Abnormality of the Leydi... |
ORPHA:3063 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Failure to thrive, Sparse hair, Inguinal hernia, Generalized joint laxity, Coarse hair, Congenita... |
ORPHA:357074 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Tachycardia, Diabetes mellitus, Hypertension |
OMIM:184850 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Palmoplantar hyperhidrosis, Hirsutism, Failure to thrive, Exaggerated startle response, Postaxial... |
OMIM:617527 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
| Stiff Person Spectrum Disorder |
|
Hypothyroidism, Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Limited hip extension, Corneal scarring, Talipes equinovarus, Flexion contracture, Tachycardia, R... |
OMIM:614653 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response, Flexion contracture |
OMIM:618201 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Opisthotonus, Choreoathetosis, Podagra, Dystonia |
OMIM:300322 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Retinal hemorrhage, Vasculitis, Gingival bleeding, Purpura, Gastroint... |
ORPHA:33226 |
| Bloom Syndrome |
|
Oligospermia, Male infertility, Diabetes mellitus, Azoospermia, Premature ovarian insufficiency |
ORPHA:125 |
| Sandhoff Disease |
|
Impotence, Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Hepatosplenomegal... |
OMIM:268800 |
| Pseudoxanthoma Elasticum |
|
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... |
OMIM:264800 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Action tremor, Hepatomegaly, Splenomegaly, Intention tremor,... |
ORPHA:191 |
| Incontinentia Pigmenti |
|
Sparse hair, Supernumerary nipple, Alopecia, Coarse hair, Atrophic, patchy alopecia, Retinal hemo... |
OMIM:308300 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
| Hyperekplexia 1 |
|
Hip dislocation, Exaggerated startle response, Inguinal hernia, Umbilical hernia |
OMIM:149400 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Hypotension, Athetos... |
OMIM:608643 |
| Asparagine Synthetase Deficiency |
|
Large hands, Failure to thrive, Exaggerated startle response |
OMIM:615574 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Overlapping toe, Exaggerated startle response |
OMIM:618598 |
| Renal Cysts And Diabetes Syndrome |
|
Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Maturi... |
OMIM:137920 |
| Phacoanaphylactic Uveitis |
|
Retinal arteritis, Hyphema |
ORPHA:209959 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility |
ORPHA:730 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Retinal hemorrhage, Raynaud phenomenon |
OMIM:611773 |
| Tay-Sachs Disease |
|
Precocious puberty, Distal upper limb muscle weakness, Laryngeal dystonia, Exaggerated startle re... |
ORPHA:845 |
| Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Transient ischemic attack, Hypertension, Adrenal calcification, Hepatic... |
ORPHA:51608 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Subdural hemorrhage, Flexion contracture, Splenomegaly, Intention tremor, Dry hair,... |
ORPHA:90324 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hydrocele testis, Chordee, Clinodactyly of the 5th finger, Imperforate hymen, Exaggerated startle... |
OMIM:619522 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Gastrointestinal hemorrhage, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
| Idiopathic Aplastic Anemia |
|
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage |
ORPHA:88 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture |
OMIM:609541 |
| Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility |
OMIM:227650 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
| Rift Valley Fever |
|
Melena, Hematemesis, Abnormal bleeding, Retinal hemorrhage, Gingival bleeding, Elevated hepatic t... |
ORPHA:319251 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Retinal hemorrhage |
ORPHA:86839 |
| Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
| Leukocyte Adhesion Deficiency |
|
Osteomyelitis, Hyperinsulinemic hypoglycemia, Coronal craniosynostosis, Abnormal bleeding, Perito... |
ORPHA:2968 |
| Tetrasomy 9P |
|
Infertility, Cryptorchidism, Micropenis, Oligospermia, Polymicrogyria, Absent gallbladder, Lissen... |
ORPHA:3310 |
| Hyperekplexia 2 |
|
Hiatus hernia, Exaggerated startle response |
OMIM:614619 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Abnormality of the endocrine system, Precocious puberty, Cryptorchidism, Exagge... |
ORPHA:438213 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Granulomatosis With Polyangiitis |
|
Weight loss, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage |
OMIM:608710 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Retinoblastoma |
|
Vitreous hemorrhage, Pinealoma |
OMIM:180200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Pulmonic stenosis, Dilated cardiomyopathy, Exaggerated startle response, Flexion contracture |
OMIM:253800 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss, Vitreous hemorrhage, Chorioretinal scar |
ORPHA:91500 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Coccidioidomycosis |
|
Abnormality of the endocrine system, Abnormal sperm morphology, Abnormality of the male genitalia... |
ORPHA:228123 |
| Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
| Cystinosis, Nephropathic |
|
Male infertility, Delayed puberty, Male hypogonadism, Primary hypothyroidism, Diabetes mellitus |
OMIM:219800 |
| Noonan Syndrome 1 |
|
