| Premature Ovarian Failure 2B |
|
Osteoporosis, Female infertility, Premature ovarian insufficiency, Primary amenorrhea |
OMIM:300604 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:619689 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 65 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... |
OMIM:619712 |
| Spermatogenic Failure 84 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620409 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 56 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:619515 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| 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 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... |
OMIM:619585 |
| Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:301059 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:620084 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Isochromosomy Yq |
|
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:612997 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 39 |
|
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... |
OMIM:618643 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Deafness, Congenital, With Total Albinism |
|
Hypogonadism |
OMIM:220900 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:614822 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Limited hip movement, Antalgic gait, Leukocytosis, Multicentric femoral head ossification, Delaye... |
ORPHA:168621 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... |
OMIM:619177 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism |
DECIPHER:53 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... |
OMIM:614840 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Familial Hyperprolactinemia |
|
Osteopenia, Female hypogonadism, Infertility, Amenorrhea, Oligomenorrhea, Osteoporosis, Menorrhagia |
ORPHA:397685 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Melanocytic nevus, Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia, Anemia |
ORPHA:3319 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency |
ORPHA:75325 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Fair hair, Increased LDL cholesterol concentration, Gait ataxia, Aggressive behavior, Development... |
OMIM:618808 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Phenylketonuria |
|
Cataract, Fair hair, Self-mutilation, Maternal hyperphenylalaninemia, Attention deficit hyperacti... |
OMIM:261600 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism |
OMIM:312910 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... |
OMIM:146110 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Narrow palm, Polyphagia, Hypogon... |
ORPHA:177910 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:620548 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Obesity, Hypercholesterolemia, Myocardial infarction |
OMIM:608320 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... |
OMIM:616000 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Hypoplasia of penis, Micropenis, Cryptorchidism |
ORPHA:85274 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism |
OMIM:615988 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea n... |
OMIM:617872 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue ir... |
OMIM:615516 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:1014 |
| Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism |
ORPHA:2815 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Hypoglycemia, Thrombocytopenia, Cataract |
ORPHA:67048 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Fair hair, Hyperactivity, Brachydactyly, Short metatarsal, Blue irides, Re... |
OMIM:614613 |
| Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Congestive heart failure, Increased LDL cholesterol conc... |
OMIM:615703 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Hypogonadism |
ORPHA:1383 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis |
OMIM:607080 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, External genital hypoplasia, Micropenis |
OMIM:615983 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... |
ORPHA:432 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hirsutism, Reduced sub... |
OMIM:612526 |
| Morgagni-Stewart-Morel Syndrome |
|
Depression, Obesity, Hyperuricemia, Hirsutism, Hypertension, Hypercholesterolemia, Osteoarthritis... |
ORPHA:77296 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... |
ORPHA:752 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... |
OMIM:264300 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Cataract, Hypochromic anemia, White hair, Ocular albinism, Abnormal hip bo... |
ORPHA:2720 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Po... |
ORPHA:411515 |
| Tietz Albinism-Deafness Syndrome |
|
Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides |
OMIM:103500 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... |
ORPHA:753 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Cryptorchidism |
ORPHA:261483 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood urea nitrogen, Hyper... |
OMIM:620085 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism |
OMIM:615987 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility |
OMIM:617442 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges... |
ORPHA:2513 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... |
ORPHA:243 |
| Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Splenomegaly, Gait disturbance, Abnormality of skin pigmentation, Ataxia, ... |
ORPHA:834 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615269 |
| Smith-Magenis syndrome |
|
Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Attention deficit hyperactivity disorder, Hypercholesterolemia |
OMIM:301033 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of... |
ORPHA:42665 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
| Ciliary Dyskinesia, Primary, 51 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620438 |
| Mandibuloacral Dysplasia |
|
Alopecia, Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tis... |
ORPHA:2457 |
| Waardenburg Syndrome, Type 3 |
|
Joint contracture of the hand, Clinodactyly, Hypopigmented skin patches, Carpal synostosis, Campt... |
OMIM:148820 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... |
OMIM:615300 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Paternal Uniparental Disomy Of Chromosome X |
|
Micropenis, Decreased testicular size, Infertility |
ORPHA:261524 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... |
OMIM:613845 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hypertrichosis, Hypertrophic cardiomyopathy, Congestive heart failure, Low ant... |
ORPHA:528 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Short toe, Patellar hypoplasia, Hypogonadism, Self-mutilation, Dysmetria, 2-3 toe syndactyly, 4-5... |
ORPHA:3041 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Classic Galactosemia |
|
Ataxia, Cataract, Hypoglycemia, Gait imbalance, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:79239 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Primary amenorrhea, Micropenis, Decreased serum leptin |
OMIM:614962 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... |
OMIM:619868 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Cryptorchidism, Prol... |
OMIM:227650 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Gordon Holmes Syndrome |
|
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... |
OMIM:212840 |
| Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, A... |
ORPHA:79476 |
| Oculocutaneous Albinism, Type Viii |
|
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris tran... |
OMIM:619165 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia |
ORPHA:488650 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Cryptorchidism |
OMIM:615982 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
| N Syndrome |
|
Abnormality of chromosome stability, Hypospadias, Cryptorchidism |
OMIM:310465 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
ORPHA:94124 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
| Hermansky-Pudlak Syndrome 5 |
|
Albinism, Ocular albinism, Metrorrhagia, Absent platelet dense granules, Thrombocytopenia, Iris t... |
OMIM:614074 |
| Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... |
OMIM:600901 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism, Ataxia |
ORPHA:231183 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
OMIM:607250 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... |
ORPHA:3363 |
| Beta-Thalassemia |
|
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Thrombocytop... |
ORPHA:848 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocyto... |
ORPHA:263501 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... |
ORPHA:755 |
| Image Syndrome |
|
Hypogonadism, Adrenal hypoplasia, Hypospadias, Cryptorchidism |
ORPHA:85173 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Decreased fertility, Abnormal testis morphology |
ORPHA:2233 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Griscelli Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, Abnormal circulating lipid c... |
ORPHA:381 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Hypogonadism, Aggressive behavior, Ataxia, Dysphagia |
ORPHA:97229 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... |
OMIM:618086 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
| Woolly Hair |
|
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... |
ORPHA:170 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615266 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... |
ORPHA:2232 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
| Oliver-Mcfarlane Syndrome |
|
Hypogonadotropic hypogonadism, Pigmentary retinopathy, Central heterochromia |
OMIM:275400 |
| Tonne-Kalscheuer Syndrome |
|
Self-injurious behavior, Broad-based gait, Broad thumb, Aggressive behavior, Brachydactyly, Blue ... |
OMIM:300978 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Angina pectoris, Hypercholesterolemia, Hypertriglyceride... |
OMIM:614025 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... |
ORPHA:320391 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias |
ORPHA:141333 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Hermansky-Pudlak Syndrome 11 |
|
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr... |
OMIM:619172 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Down-sloping shoulders, Heterochromia iridis, Brachydactyly,... |
ORPHA:1390 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia |
ORPHA:99000 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypoplasia of the iris, Megalocornea, Astigmatism, Joint hypermobility, Iridodonesis,... |
ORPHA:2479 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism |
ORPHA:2528 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ab... |
ORPHA:411511 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... |
ORPHA:2410 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract, Ataxia |
ORPHA:231169 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, External genital hypoplasia |
OMIM:615993 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Alopecia, Mottled pigmentation, Increased adipose tissue around the neck, Increased f... |
OMIM:248370 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Hypogonadism |
ORPHA:3216 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Hypogonadism |
OMIM:615768 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Cataract, Postaxial foot polydactyly, Polydipsia, Hyperglycemia, Astigmat... |
OMIM:615986 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Osteoporosis, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Microcornea, Broad-based gait, Increased HbA2 hemoglobin, Increased bon... |
OMIM:616943 |
| Nail-Patella Syndrome |
|
Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell... |
ORPHA:2614 |
| Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Ataxia, Hypopigmentation of the skin, Hemophagocytosis, ... |
OMIM:214500 |
| Neuhauser Syndrome |
|
Corneal arcus, Osteopenia, Megalocornea, Hypoplasia of the iris, Genu valgum, Arachnodactyly, Iri... |
OMIM:249310 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Leukocytosis, Cerebral ischemia, ST segment... |
ORPHA:90065 |
| Progressive Hemifacial Atrophy |
|
Heterochromia iridis, Irregular hyperpigmentation |
ORPHA:1214 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal... |
ORPHA:352731 |
| Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
| Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Hyp... |
ORPHA:79237 |
| Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... |
OMIM:227645 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Decreased body mass index, Decreased HDL cholesterol concentration, Abnor... |
ORPHA:247585 |
| Noonan Syndrome 13 |
|
Head-banging, Clinodactyly, Multiple lentigines, Overlapping toe, Limited elbow extension, Aggres... |
OMIM:619087 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... |
OMIM:616030 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Self-injurious behavior, Abnormal temper tantrums, Small hand, Osteopenia, Hypopigmentation of th... |
ORPHA:98793 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... |
ORPHA:163976 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Abnormality of the thyroid gland, Decreas... |
ORPHA:2234 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Self-injurious behavior, Abnormal temper tantrums, Small hand, Osteopenia, Hypopigmentation of th... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Self-injurious behavior, Abnormal temper tantrums, Small hand, Osteopenia, Hypopigmentation of th... |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Self-injurious behavior, Abnormal temper tantrums, Small hand, Osteopenia, Hypopigmentation of th... |
ORPHA:177901 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
| Smith-Magenis Syndrome |
|
Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hypercholesterolemia, Hyp... |
OMIM:182290 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... |
OMIM:620211 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ab... |
ORPHA:98794 |
| 46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
| Crandall Syndrome |
|
Hypogonadism, Hypoplasia of penis, Abnormal testis morphology |
ORPHA:202 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Hyperphosphatemia, Hypogonadism, Long hallux, Cone-shaped epiphyses of th... |
OMIM:101800 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Ataxia, Ocular albinism, Abnormal thumb morphology, Choroideremi... |
ORPHA:2719 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Moynahan Syndrome |
|
Hypogonadism |
ORPHA:2574 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism |
ORPHA:85283 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
| Angelman Syndrome |
|
Self-injurious behavior, Keratoconus, Iris hypopigmentation, Hypopigmentation of the skin, Broad-... |
ORPHA:72 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:610628 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, Hypercalc... |
ORPHA:251004 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... |
OMIM:616828 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Osteopetrosis, Generalized hypopigmentation, Iris transillumination defect... |
OMIM:617306 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Priapism, Persistence ... |
ORPHA:232 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, External genital hypoplasia, Cryptorchidism |
ORPHA:363741 |
| Bardet-Biedl Syndrome 2 |
|
Hypogonadism, External genital hypoplasia, Diabetes mellitus |
OMIM:615981 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Aggressive behavior, Hyperactivity, Long fingers, Clinodactyly of the 5th finger, Mo... |
OMIM:609425 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Brachydactyly, Increased blood urea nitrogen, Retrograde ejaculation, Elevated ci... |
OMIM:223360 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Methionine Malabsorption Syndrome |
|
Positive ferric chloride test, Blue irides, White hair |
OMIM:250900 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:88637 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo... |
OMIM:208920 |
| Lessel-Kubisch Syndrome |
|
Hypogonadism |
OMIM:618681 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... |
ORPHA:280356 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Ermine Phenotype |
|
Iris hypopigmentation, Toe syndactyly, Irregular hyperpigmentation, Hypopigmented skin patches, O... |
ORPHA:999 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
| Temple Syndrome |
|
Obesity, Joint hypermobility, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Flexio... |
OMIM:616222 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... |
OMIM:300869 |
| Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ovarian cyst |
OMIM:268650 |
| Cockayne Syndrome Type 1 |
|
Cataract, Male hypogonadism, Pigmentary retinopathy, Difficulty walking, Gait disturbance, Increa... |
ORPHA:90321 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula... |
OMIM:151660 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism |
OMIM:615984 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... |
OMIM:210250 |
| Edinburgh Malformation Syndrome |
|
Slender finger, Ulnar deviation of finger, Brushfield spots, Long fingers |
ORPHA:1895 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Impotence, Conjunctival icterus, Glycosuria, Pancytopen... |
ORPHA:447 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Joint contracture of the hand, Pigmentary retinopathy, Opacification of the corneal str... |
OMIM:214110 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Heterochromia iridis, Ataxia, Hypopigmen... |
ORPHA:2885 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane, Brachydactyly |
ORPHA:79414 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... |
ORPHA:1067 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias |
OMIM:615985 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... |
ORPHA:247768 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Absence of pubertal development |
OMIM:615267 |
| Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus,... |
ORPHA:100 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia |
ORPHA:75234 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity, Hypercholesterolemia, Joint hypermobility |
ORPHA:254531 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Depression, Failure to thrive, Umbilical hernia, Abnormal circulatin... |
ORPHA:90674 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... |
OMIM:613673 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:612370 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Anterior Segment Dysgenesis 4 |
|
Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal ossi... |
ORPHA:95717 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... |
OMIM:612702 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Abnormali... |
ORPHA:1173 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Microcornea, Failure to thrive in infancy, Joint stiffness, Obesity, Att... |
ORPHA:819 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Hypogonadism |
OMIM:251240 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism |
OMIM:617119 |
| Fanconi Anemia, Complementation Group D2 |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Cryptorchidism, Prol... |
OMIM:227646 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Delayed puberty |
OMIM:615270 |
| Acrofrontofacionasal Dysostosis |
|
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Hypopigme... |
ORPHA:1784 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
| Cholesteryl Ester Storage Disease |
|
Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hy... |
OMIM:278000 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Tongue thr... |
ORPHA:98795 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Cryptorchidism |
OMIM:601794 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Ectopia lentis, Hyperlysinemia, Hyperactivity, Anemia, Dysdiadochokinesis |
OMIM:238700 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... |
OMIM:616425 |
| Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Abnormal temper tantrums, Small hand, Hypopigmentation of the skin, Head-b... |
ORPHA:177907 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatospleno... |
ORPHA:231222 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
| Lead Poisoning |
|
Decreased male libido, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, ... |
ORPHA:330015 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Highly arched eyebrow, Dilated cardiomyopathy, Renovascular hypertension, H... |
ORPHA:401923 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... |
OMIM:300200 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Premature graying of hair |
ORPHA:66633 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... |
ORPHA:33445 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Hypoproteinemia, Hypopig... |
ORPHA:167 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Osteoporosis, Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:85194 |
| Angelman Syndrome |
|
Broad-based gait, Hypopigmentation of the skin, Fair hair, Progressive gait ataxia, Hyperactivity... |
OMIM:105830 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu... |
OMIM:277460 |
| Björnstad Syndrome |
|
Hypogonadism |
ORPHA:123 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Testicular seminoma, Cryptorchidism, Lissencephaly |
ORPHA:281090 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Hypogonadism, Impotence, Abnormality of endocrine pancreas physiology, Diabetes mellitus |
ORPHA:79230 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Developmental cataract, Corneal... |
OMIM:618815 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, Ir... |
OMIM:618235 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... |
OMIM:616201 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... |
ORPHA:3214 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Brushfield spots, Ulnar deviation of the hand or of fingers of ... |
OMIM:214100 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Obesity, Polyphagia, Childhood-onset truncal obe... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Obesity, Polyphagia, Childhood-onset truncal obe... |
ORPHA:71526 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... |
ORPHA:64753 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... |
OMIM:618849 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Greig Cephalopolysyndactyly Syndrome |
|
Keratoconus, Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped met... |
OMIM:175700 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Failure to thrive, Splenomegaly, Bradycardia, Elevated circulating creatine kinase co... |
OMIM:613327 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Clinodactyly, Hypoglycemia, Hypogonadism, Single... |
ORPHA:73272 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Hypercholesterolemia, Familial, 3 |
|
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Aromatase Deficiency |
|
Insulin resistance, Delayed epiphyseal ossification, Osteopenia, Female infertility, Genu valgum,... |
ORPHA:91 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Sparse hair, D... |
OMIM:606721 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
| Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Cataract, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism,... |
ORPHA:79430 |
| Hemochromatosis, Type 2B |
|
Hypogonadism, Secondary amenorrhea |
OMIM:613313 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Laron Syndrome |
|
Truncal obesity, Hypercholesterolemia, Osteoarthritis |
ORPHA:633 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, ... |
ORPHA:49041 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Congestive heart failure, Obesi... |
ORPHA:3077 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Premature graying of hair, Gait ataxia, Self-mutilation, Hyperactivity, External tibial torsion, ... |
OMIM:620445 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co... |
OMIM:616267 |
| De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi... |
OMIM:278800 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, O... |
ORPHA:470 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Classic Phenylketonuria |
|
Self-injurious behavior, Cataract, Depression, Hypopigmentation of the skin, Attention deficit hy... |
ORPHA:79254 |
| Brittle Cornea Syndrome |
|
Corneal scarring, Increased susceptibility to fractures, Abnormality of hair pigmentation, Joint ... |
ORPHA:90354 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ... |
ORPHA:54 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Abnormality of hair... |
OMIM:618156 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Hypercholesterolemia, Familial, 2 |
|
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... |
ORPHA:66529 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Polymicrogyria, Hypogonadism, Decreased testicular size, Cryptorchidism, Delayed puberty, Micrope... |
OMIM:300354 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Obesity, Angina... |
ORPHA:412 |
| Ziegler-Huang Syndrome |
|
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... |
OMIM:620501 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Alopecia universalis, Premature graying of hair, Congestive heart failure,... |
ORPHA:363618 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism |
ORPHA:163693 |
| Hermansky-Pudlak Syndrome 8 |
|
Silver-gray hair, Myopic astigmatism, Ocular albinism, Astigmatism, Iris transillumination defect... |
OMIM:614077 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... |
ORPHA:3143 |
| Sturge-Weber Syndrome |
|
Hyperostosis, Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Att... |
ORPHA:3205 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... |
OMIM:256710 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... |
OMIM:278760 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Hypopigmentation of the skin, Thrombocytopenia, Ocular albinism |
OMIM:614171 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Proteus-Like Syndrome |
|
Cataract, Irregular hyperpigmentation, Thymus hyperplasia, Abnormal pupil morphology, Hyperostosi... |
ORPHA:2969 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Athetosis, Elevated circulating phytanic acid concentration, He... |
OMIM:614866 |
| Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Hermansky-Pudlak Syndrome 4 |
|
Menorrhagia, Albinism, Absent platelet dense granules, Ocular albinism |
OMIM:614073 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia |
OMIM:617182 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
| Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis, Hypergonadotropic hypogonadism, Abnormal spermatogenesis |
ORPHA:90646 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia |
OMIM:615996 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Irritability, Elevated circu... |
OMIM:212138 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Slender finger, Cataract, Prominent fingertip pads, Fair hair, Narrow palm... |
OMIM:610443 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... |
OMIM:605814 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Obesity, Joint hypermobility, Hypercholesterolemia, Truncal obesity, Small for gestational age |
ORPHA:96184 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Cone-shaped epiphyses of the ... |
ORPHA:397973 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Cardiomyopathy, Splenomegaly, Elevated circulating creatine kinase concentrati... |
ORPHA:264580 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Premature ovarian insufficiency, Female infertility, Elevated circulating cre... |
OMIM:619518 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Keratoconus, Elongated radius, Microcornea, Cataract, Patellar hypoplasia, Hypop... |
OMIM:161200 |
| Noonan Syndrome 4 |
|
Cubitus valgus, Blue irides, Thrombocytopenia |
OMIM:610733 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, 2-3 toe syndactyly, Aggressive behavior, Hyperactivity, Premature ovarian insufficie... |
ORPHA:391307 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Shwachman-Diamond Syndrome 1 |
|
Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Pancytopenia, Metaphyseal sclerosis... |
OMIM:260400 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Dysphagia, Mildly elevated creatine kinase, Bradycardia |
OMIM:620265 |
| Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypoplasia of the iris, Premature graying of h... |
OMIM:611584 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia... |
ORPHA:90041 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty, Premature adrenarche, Clitoral hypertrophy, Long penis, Irregular menstruatio... |
ORPHA:90795 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Hypogonadism, Cryptorchidism, Gonadal dysgenesis |
ORPHA:3306 |
| Zellweger Syndrome |
|
Cataract, Epiphyseal stippling, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnorma... |
ORPHA:912 |
| Spermatogenic Failure 14 |
|
Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Broad-based gait, Persistence of hemoglobin F, Limb ataxia, Recurrent ha... |
OMIM:617101 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension, Pathologic fracture, Hypersplenism, Hepatosplenomegaly,... |
ORPHA:98850 |
| Chromosome Xq13 Duplication Syndrome |
|
Clinodactyly of the 5th finger, Limited elbow extension, Aggressive behavior, Attention deficit h... |
OMIM:301069 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:620141 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small scrotum, Small pituitary gland, Premature adrenarche, Central hypothyro... |
ORPHA:398079 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Attention deficit hyperactivity disorder, Oligozoospermia, Male infertility |
ORPHA:3000 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Limbal dermoid, Brushfield spots, Iris coloboma |
ORPHA:1791 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Congestive heart failure, Inability to walk, Hypertrophic cardiomyopathy, Atax... |
ORPHA:70472 |
| Camurati-Engelmann Disease, Type 2 |
|
Hypogonadism, Delayed puberty |
OMIM:606631 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Congestive heart failure, Decreased plasma free carnitine, Hyperalaninemia, Br... |
OMIM:619048 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Prader-Willi Syndrome |
|
Self-injurious behavior, Osteopenia, Class III obesity, Decreased HDL cholesterol concentration, ... |
OMIM:176270 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Increased body weight, Hypercho... |
ORPHA:79240 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Osteomalacia, Hypophosphatemia, Motor stereotypy, Self-injurious behavior, Cataract,... |
ORPHA:534 |
| Estrogen Resistance |
|
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... |
OMIM:615363 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Hypogonadism |
OMIM:302950 |
| Familial Dysautonomia |
|
Ataxia, Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Gait disturbance, Corneal ... |
ORPHA:1764 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Rickets, Failu... |
OMIM:309000 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... |
OMIM:615849 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... |
OMIM:615812 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal ... |
ORPHA:284160 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Hypogonadism, Cryptorchidism |
ORPHA:85323 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract, Ataxia |
ORPHA:231178 |
| Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Persistence of he... |
OMIM:617052 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Cryptorchidism, Hypoplasia of penis |
ORPHA:127 |
| Obesity And Hypopigmentation |
|
Red hair, Polyphagia, Obesity |
OMIM:620195 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
| Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... |
OMIM:222100 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Depression, Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia, Dysphagia |
OMIM:609286 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Short thumb, Persistence of hemoglobin F, Macrocytic anemia, T... |
OMIM:612561 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... |
ORPHA:75564 |
| Urban-Rogers-Meyer Syndrome |
|
Hypogonadism, Hypoplasia of penis, Cryptorchidism |
ORPHA:3409 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Atypical scarring of skin, Abnormal cornea morphology, Dentinogenesis imperfecta, Jo... |
OMIM:229200 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis |
ORPHA:621 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... |
ORPHA:567548 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Epistaxis, Failure to thrive, Xanthelasma, Hyperlipidemia, Increased susceptibility t... |
ORPHA:79259 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin concentration, ... |
ORPHA:95716 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Failure to thrive, Long eyebrows, Joint contracture of the 5th finger, Br... |
OMIM:614407 |
| Trichothiodystrophy |
|
Defective DNA repair after ultraviolet radiation damage, Cryptorchidism, Gonadal dysgenesis |
ORPHA:33364 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Difficulty walking, Abnorm... |
ORPHA:100924 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia |
OMIM:616730 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Polymicrogyria, Streak ovary, Gray ma... |
OMIM:618820 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Mottled pigmentation, Umbilical hernia, Large for gestational ag... |
ORPHA:226313 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... |
OMIM:616299 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:79085 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Congenital Microcoria |
|
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... |
ORPHA:566 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Aplastic anemia, Failure to thrive, Premature graying of hair, Pancytopen... |
OMIM:613989 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
| Spermatogenic Failure 13 |
|
Azoospermia, Male infertility |
OMIM:615841 |
| Neurofibromatosis Type 1 |
|
Hypopigmented skin patches, Chorioretinal coloboma, Genu valgum, Ataxia, Leukemia, Genu varum, Os... |
ORPHA:636 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Portal hypertension, Sple... |
ORPHA:186 |
| Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Partial albinism, Endometriosis, Iris transillumin... |
OMIM:614075 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Ataxia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell mo... |
ORPHA:760 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... |
ORPHA:101016 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypogonadism, Small scrotum, Hypoplasia of penis |
ORPHA:2983 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Leopard Syndrome 1 |
|
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... |
OMIM:151100 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Fair hair, Failure to thr... |
OMIM:302060 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... |
ORPHA:998 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Dysphagia, Bradycardia |
OMIM:616276 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypergonadotropic h... |
OMIM:154230 |
| Duane Retraction Syndrome |
|
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Chorioretinal coloboma, Pre... |
ORPHA:233 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Clubbing, Male infertility |
ORPHA:244 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Failure to thrive, Cardiomyopathy, ... |
ORPHA:289157 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypogonadism, Hypoplastic nipples |
OMIM:273400 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Hypogonadotropic hypogonadism, Decreased circulati... |
OMIM:600955 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Spontaneous, recurrent epistaxis, Abnormal number of dense granules... |
OMIM:614072 |
| Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage, Premature ovarian insufficiency |
OMIM:610965 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... |
OMIM:614839 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Wolfram Syndrome 1 |
|
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus |
OMIM:222300 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, White forelock, Heterochromi... |
OMIM:613266 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
| Glycogen Storage Disease Iv |
|
Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosple... |
OMIM:232500 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Hypogonadism, Small scrotum, Cryptorchidism |
ORPHA:228390 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Self-injurious behavior, Acromesomelia, Clinodactyly, Bruxism, Stereotypical body rocking, Short ... |
ORPHA:261323 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Splenomegaly, Osteopetrosis, Hypopigmentation of hair, Cafe-au-lait... |
OMIM:618541 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent corneal erosions, Elevated circulating creatinine concentration, Corneal ulceration, In... |
OMIM:223900 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
| Noonan Syndrome |
|
Osteopenia, Juvenile myelomonocytic leukemia, Abnormality of the spleen, Delayed menarche, Melano... |
ORPHA:648 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility |
OMIM:617091 |
| Reni Syndrome |
|
Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Micropenis |
OMIM:617575 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Talipes equinovarus, Short toe, HbH hemoglobin |
ORPHA:98791 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Nephrogenic diabetes insipidus... |
OMIM:209900 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... |
ORPHA:90301 |
| 48,Xxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... |
ORPHA:96263 |
| Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
| Lysosomal Acid Lipase Deficiency |
|
Hypotension, Failure to thrive, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam ... |
ORPHA:275761 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Steinert Myotonic Dystrophy |
|
Prolonged PR interval, Posterior subcapsular cataract, Depression, Falls, Alopecia, Oral-pharynge... |
ORPHA:273 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Bradycardia, Sma... |
OMIM:614702 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Hypoplastic l... |
ORPHA:739 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... |
OMIM:203100 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia |
ORPHA:209902 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Hypercholesterolemia, Overweight, Hypertension, Liver abscess |
ORPHA:69663 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... |
OMIM:619662 |
| Senior-Loken Syndrome 9 |
|
Hypogonadism |
OMIM:616629 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
| Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Myeloproliferative disorder, Iritis,... |
ORPHA:158000 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Failure to thrive, Tricuspid regurgitation, Leukopenia, Sple... |
OMIM:300972 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
| Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Abnormality of chromosome stability, Micropenis, Hypergonadotropic hypogonadism |
OMIM:300514 |
| Hermansky-Pudlak Syndrome 2 |
|
Albinism, Reduced natural killer cell count, Enlarged platelet dense granules, Fair hair, Ocular ... |
OMIM:608233 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia, Hip contracture, Achilles tendon contracture, Congenital fi... |
OMIM:620351 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Hypercholesterolemia |
OMIM:618348 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Vaginal atresia, Hydrometrocolpos |
OMIM:615989 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
| Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Peters anomaly, Prominent fingertip pads, Tibial torsion, Attention defici... |
OMIM:619539 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder, Hyperactivity,... |
OMIM:617600 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Incr... |
ORPHA:98849 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Sandal gap, Brushfield spots, Hypoplastic iliac wing, Ac... |
OMIM:190685 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... |
ORPHA:67042 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Generalized h... |
ORPHA:3322 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Difficulty walking, Genu valgum, Metaphyseal dysplasia, Abnormal pelvis bon... |
ORPHA:239 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Hypercholesterolemia, Hyperammonemia, Knee flexion contracture |
OMIM:620454 |
| 47,Xyy Syndrome |
|
Finger clinodactyly, Male infertility, Azoospermia, Attention deficit hyperactivity disorder, Hyp... |
ORPHA:8 |
| Glutamine Deficiency, Congenital |
|
Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture |
OMIM:610015 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Splayed toes, Primary amenorrhea, Prema... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Splayed toes, Primary amenorrhea, Prema... |
ORPHA:99228 |
| Monosomy X |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Splayed toes, Primary amenorrhea, Prema... |
ORPHA:99226 |
| Turner Syndrome |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Splayed toes, Primary amenorrhea, Prema... |
ORPHA:881 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Neutrop... |
ORPHA:124 |
| Beta-Ketothiolase Deficiency |
|
Ataxia, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Oral ... |
ORPHA:134 |
| Wyburn-Mason Syndrome |
|
Iris hypopigmentation |
ORPHA:53719 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small scrotum, Small pituitary gland, Central hypothyroidism, Hypogonadism, D... |
ORPHA:398069 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... |
ORPHA:562 |
| Trisomy 8P |
|
Short fifth metatarsal, Short 1st metacarpal, Clinodactyly of the 2nd finger, Clinodactyly of hal... |
ORPHA:264450 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... |
ORPHA:300298 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Leukocytosis, Bradycardia, Hyponatremia, Lethargy, Thrombocytopenia, Neutrope... |
ORPHA:391673 |
| Williams Syndrome |
|
Megalocornea, Genu valgum, Type II diabetes mellitus, Overfriendliness, Radioulnar synostosis, Po... |
ORPHA:904 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged P... |
ORPHA:542306 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Nail dystrophy, Hypercholesterolemia, Small nail, Hypertriglyceridemia |
OMIM:610644 |
| 8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab... |
ORPHA:251066 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility |
OMIM:614874 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Increased circulating free fatty acid level, Sparse eyebrow, Failure to thrive, Dilated... |
OMIM:610768 |
| Myotonic Dystrophy 2 |
|
Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
| Bardet-Biedl Syndrome |
|
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... |
ORPHA:110 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Hyperbilirubinemia, Decreased circulating cortisol level, Polyphagia, Red hair |
OMIM:609734 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Obesity, Emotional lability, Hirsutism, Hypokalemia, Abdominal ob... |
OMIM:219090 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hypogonadism, Cholelithiasis, Type II diabetes mellitus |
ORPHA:79095 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Hypopigmented skin patches, Carpal synostosis, Tarsal synostosis, Hyper... |
ORPHA:53271 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea |
OMIM:110100 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Partial albinism, White forelock, Heterochromia iridis, White eyebrow,... |
OMIM:193500 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair |
ORPHA:2221 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Alopecia totalis, Elevated circulating creatine kinase concentration... |
OMIM:618775 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... |
ORPHA:90794 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal ossi... |
ORPHA:90673 |
| Bjornstad Syndrome |
|
Hypogonadism |
OMIM:262000 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Splenomegaly, Heterochromia ... |
ORPHA:163746 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Decreased testicular size, Hypoplasia of the ovary |
OMIM:619321 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration |
OMIM:201100 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Timothy Syndrome |
|
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... |
OMIM:601005 |
| Tetanus |
|
Stiff neck, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Tachyc... |
ORPHA:3299 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Primary amenorrhea |
ORPHA:3220 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia |
OMIM:614654 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula |
ORPHA:309246 |
| Alstrom Syndrome |
|
Irregular menstruation, Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Hyperglycemi... |
OMIM:203800 |
| Vici Syndrome |
|
Cataract, Hypopigmentation of the skin, Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy... |
OMIM:242840 |
| Argininemia |
|
Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Spastic gait, Reduced erythrocyte argi... |
OMIM:207800 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Azoospermia, Type II diabetes mellitus,... |
OMIM:210900 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Leukocyt... |
ORPHA:94093 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Clinodactyly, HbH hemoglobin, Radial deviation of finger, Talipes equinovarus, Hypochromic microc... |
OMIM:301040 |
| Incontinentia Pigmenti |
|
Supernumerary nipple, Sparse hair, Onychogryposis, Cataract, Alopecia, Breast aplasia, Breast hyp... |
OMIM:308300 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... |
ORPHA:85450 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... |
ORPHA:91347 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Genu valgum, Hypophosphatemia, Dysphagia, Male inf... |
OMIM:219800 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormal hemoglobin, Talipes equinovarus, Brachydactyly, Anemia, Clinoda... |
ORPHA:847 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Cystathioninemia, Hypotension, Failure to thrive, Bradycardia, Hypomethio... |
OMIM:277400 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic ilia, Increased mean corpuscular volume, Absent thumb, Short thumb, Persistence of he... |
OMIM:105650 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Heterochromia iridis, Microcornea, Iris coloboma, Duplication of thumb phalanx |
ORPHA:2995 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... |
ORPHA:2298 |
| Alagille Syndrome 1 |
|
Cataract, Microcornea, Band keratopathy, Pigmentary retinopathy, Failure to thrive, Axenfeld anom... |
OMIM:118450 |
| Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno... |
ORPHA:3440 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Clinodactyly of the 4th finger, Hyperglycemia |
ORPHA:79134 |
| Alg9-Cdg |
|
Hypoplastic nipples, Bicornuate uterus, Hypoplasia of the ovary |
ORPHA:79328 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Epistaxis, Hypopigmentation of the skin, Cardiomyopathy, Ocular albinism, Melanocyt... |
OMIM:203300 |
| Hermansky-Pudlak Syndrome 7 |
|
Albinism, Menorrhagia, Ocular albinism |
OMIM:614076 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodac... |
ORPHA:1352 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Lef... |
OMIM:261740 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Shock, Elevated circul... |
ORPHA:99826 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Vasculitis, Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T ce... |
OMIM:617099 |
| Illum Syndrome |
|
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia |
OMIM:208155 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypopigmented skin patches, Hepatosplenomegaly, White forelock, Heterochromia iridis, White eyebr... |
OMIM:609136 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Astigmatism, Persistence of hemoglobin F |
OMIM:619769 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... |
ORPHA:64739 |
| Nijmegen Breakage Syndrome |
|
Progressive vitiligo, Sandal gap, Retinal pigment epithelial mottling, Autoimmune hemolytic anemi... |
OMIM:251260 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Joint contracture, Bradycardia |
OMIM:614498 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Bardet-Biedl Syndrome 20 |
|
Obesity, Hypercholesterolemia, Astigmatism |
OMIM:619471 |
| Proteus Syndrome |
|
Finger syndactyly, Chorioretinal coloboma, Abnormal metacarpal morphology, Calvarial hyperostosis... |
ORPHA:744 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Fair hair, Ectrodactyly, Hypogonadotropic hypogonadism, Split hand, Blue irides, ... |
OMIM:604292 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
| Sepsis In Premature Infants |
|
Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Decreased body weight, Anemia, Neutropenia,... |
ORPHA:90051 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... |
OMIM:137920 |
| Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Cortical cataract, Develo... |
OMIM:267750 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Trichorrhexis nodosa, Lymphopenia, Brittle hair, Splenomegaly, Inguinal her... |
ORPHA:84064 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair, Lymphopenia, Inguinal hernia, Anemia, Reduced bone mineral density |
ORPHA:935 |
| Cushing Disease |
|
Depression, Increased circulating cortisol level, Lymphopenia, Capillary fragility, Leukocytosis,... |
ORPHA:96253 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Fair hair, Hypogonadotropic hypogonadism, Hand polydactyly, Split hand, Blue irid... |
OMIM:129900 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Stiff neck, Lymphopenia, Leukopenia, Shock, Leukocytosis, Myocarditis, Thrombocytope... |
ORPHA:319213 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Emotional lability, Neutrophilia, Anorexia, Tachycardia, Diffuse alveolar hemorrhag... |
ORPHA:99827 |
| D-Glyceric Aciduria |
|
Failure to thrive, Tongue thrusting, Bradycardia, Elevated circulating D-glyceric concentration, ... |
OMIM:220120 |
| Hermansky-Pudlak Syndrome 10 |
|
Albinism, Splenomegaly, Neutropenia, Ocular albinism |
OMIM:617050 |
| Williams-Beuren Syndrome |
|
Osteopenia, Premature graying of hair, Glucose intolerance, Gait imbalance, Obsessive-compulsive ... |
OMIM:194050 |
| Albinism-Deafness Syndrome |
|
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism |
OMIM:300700 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Koolen-De Vries Syndrome |
|
Cataract, Abnormal dental enamel morphology, Overfriendliness, Joint hypermobility, Abnormality o... |
ORPHA:96169 |
| Menkes Disease |
|
Sparse hair, Gastrointestinal hemorrhage, Atypical scarring of skin, Chondrocalcinosis, Umbilical... |
ORPHA:565 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility |
ORPHA:2239 |
| Colchicine Poisoning |
|
Alopecia, Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Leukocytosis,... |
ORPHA:31824 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Premature graying of hair, Hepatosplenomegaly, Hyperbilirubinemia, Pan... |
OMIM:619488 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypogonadism, Hypoplasia of penis, External genital hypoplasia, Cryptorchidism |
ORPHA:2250 |
| Proximal Spinal Muscular Atrophy |
|
Difficulty walking, Inability to walk, Elbow flexion contracture, Multiple joint contractures, Kn... |
ORPHA:70 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Lethargy, Thrombocytopenia, Bradycardia |
OMIM:617397 |
| Myhre Syndrome |
|
Abnormal penis morphology, Precocious puberty, Hypogonadism, External genital hypoplasia, Cryptor... |
ORPHA:2588 |
| Legius Syndrome |
|
Cataract, Inguinal freckling, Acute monocytic leukemia, Polydactyly, Attention deficit hyperactiv... |
ORPHA:137605 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Blotching pigmentation of the skin, Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardi... |
OMIM:614653 |
| Glossopharyngeal Neuralgia |
|
Depression, Oral-pharyngeal dysphagia, Weight loss, Syncope, Bradycardia, Jaw claudication |
ORPHA:221098 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Pigmentary retinopathy, Akinesia, Acanthocytosis, Obsessive-compulsive trait, Motor ... |
OMIM:234200 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, Hypogonadism, External genital hypoplasia, Cryptorchidism, Diabetes mellitus, Simp... |
OMIM:614231 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
| Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Congenital foot contractures, Tip-toe gait, Bradycardia |
ORPHA:565624 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Inguinal hernia, Pulmonary arterial hypertension, Failure to thrive, Bradycardia |
OMIM:619272 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Sheehan Syndrome |
|
Sparse pubic hair, Breast hypoplasia, Obesity, Palpitations, Hyponatremia, Decreased circulating ... |
ORPHA:91355 |
| Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Leukemia, Uveitis |
ORPHA:790 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Abnormal cornea morphology, Dilated cardiomyopathy, Failure to thrive, Nail dystrophy, ... |
ORPHA:79404 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Cataract, Camptodactyly of finger, Hypogonadism, Abnormality of the sple... |
ORPHA:1606 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Carney Complex, Type 1 |
|
Congestive heart failure, Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented ... |
OMIM:160980 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst |
ORPHA:454840 |
| Acitretin/Etretinate Embryopathy |
|
Antecubital pterygium, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Failure to thrive, Breast apla... |
ORPHA:238468 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Central hypothyroidism, Streak ovary, Micropenis, Hypospadias |
ORPHA:798 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Osteopenia, Aortic regurgitation, Bidirectional shunt, Failure to thrive, Increa... |
OMIM:619534 |
| Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
| Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
| Goodpasture Syndrome |
|
Anemia, Increased blood urea nitrogen |
OMIM:233450 |
| Bloom Syndrome |
|
Insulin resistance, Uveitis, Hypopigmentation of the skin, Azoospermia, Decreased proportion of C... |
ORPHA:125 |
| Alkaptonuria |
|
Irregular hyperpigmentation, Hemolytic anemia, Methemoglobinemia, Prostatitis, Corneal astigmatis... |
ORPHA:56 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Supravalvular aort... |
ORPHA:391665 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre... |
OMIM:612716 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Abnormal cornea morphology, Male infertility |
OMIM:244400 |
| Phace Syndrome |
|
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma |
ORPHA:42775 |
| Encephalitis Lethargica |
|
Stiff neck, Lethargy, Bradycardia |
ORPHA:83600 |
| Bohring-Opitz Syndrome |
|
Limitation of joint mobility, Congenital contracture, Hypertrichosis, Inability to walk, Severe f... |
ORPHA:97297 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Yellow Fever |
|
Shock, Elevated circulating creatinine concentration, Reduced left ventricular ejection fraction,... |
ORPHA:99829 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility |
ORPHA:730 |
| Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Cataract, Abnormal dental enamel morphology, Elevated circulating 7-dehy... |
ORPHA:818 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Hyperbilirubinemia, Lethargy, Bradycardia, Increased circulating thyroglobulin ... |
OMIM:218700 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Failure to thrive, Neutropenia, Bradycardia, Dysphagia |
OMIM:617248 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia, Overwe... |
ORPHA:226307 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Joint hypermobility, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| Noonan Syndrome 1 |
|
Radial deviation of finger, Juvenile myelomonocytic leukemia, Clinodactyly, Hypogonadism, Cubitus... |
OMIM:163950 |
| Cystic Fibrosis |
|
Osteoporosis, Osteopenia, Male infertility |
ORPHA:586 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Retinopathy, Aggress... |
ORPHA:353281 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Cataract, Multiple cafe-au-lait spots, Abnormality of skin pigmentation, Co... |
ORPHA:1052 |
| African Trypanosomiasis |
|
Abnormality of the menstrual cycle, Infertility, Narcolepsy, Impotence |
ORPHA:3385 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Inguinal hernia, Joint hypermobility, S... |
OMIM:614437 |
| Cystic Fibrosis |
|
Hepatosplenomegaly, Male infertility, Clubbing of fingers |
OMIM:219700 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy |
ORPHA:293987 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353277 |
| Niemann-Pick Disease Type C |
|
Narcolepsy |
ORPHA:646 |
| Mosaic Variegated Aneuploidy Syndrome 3 |
|
Rod-cone dystrophy |
OMIM:617598 |
| Nephroblastoma |
|
Aniridia |
ORPHA:654 |
