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 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
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 |
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 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
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 |
Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
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 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 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
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 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
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 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Abnormal internal... |
ORPHA:755 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility |
OMIM:620103 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Azoospermia, Oligozoospermia, Infertility, Hypertension, Myocardial inf... |
OMIM:615703 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size |
OMIM:618086 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Hypogonadotropic h... |
OMIM:602390 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Spermatogenic Failure 14 |
|
Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility |
OMIM:229070 |
Spermatogenic Failure 13 |
|
Azoospermia, Male infertility |
OMIM:615841 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... |
ORPHA:52901 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Premature Ovarian Failure 10 |
|
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... |
OMIM:612885 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
Lessel-Kubisch Syndrome |
|
Hypogonadism, Hypertension |
OMIM:618681 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Ambiguous genitalia, Hypertension, Primary amenorrhea |
OMIM:202110 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... |
OMIM:614837 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction |
OMIM:608320 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Infertility, Oligomenorrhea, Polycystic ovaries |
ORPHA:280356 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Decreased testicular size, Azoospermia, Ischemic stroke, Cerebral hemorrh... |
ORPHA:280679 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Transient ischemic attack, Hypertension |
OMIM:616779 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... |
OMIM:278850 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... |
ORPHA:90797 |
Preeclampsia/Eclampsia 1 |
|
Hypertension |
OMIM:189800 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Hypertension, Ischemic stroke, Impotence, Raynaud phenomenon |
OMIM:615750 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614897 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Denys-Drash Syndrome |
|
Male pseudohermaphroditism, Hypertension, Gonadal dysgenesis |
ORPHA:220 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Cardiomyopathy, Familial Hypertrophic, 30, Atrial |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension |
OMIM:620734 |
Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:261519 |
Frasier Syndrome |
|
Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, Gonadal dysgenesis with fema... |
ORPHA:347 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Myocardial infarction |
OMIM:610947 |
Renal Agenesis |
|
Hypertension, Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... |
ORPHA:251510 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia, Absent outer dynein arms |
OMIM:618300 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Congestive heart failure, Azoospermia, Telangiectasia, Hypogonadotropic hypogonad... |
OMIM:235200 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... |
ORPHA:8 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Hypertension |
ORPHA:3156 |
Narcolepsy Type 1 |
|
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Syncope, Hypertension |
ORPHA:2073 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... |
OMIM:400045 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Cryptorch... |
ORPHA:432 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:1345 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Clitoral hypertrophy, Hypotension, Abnormal labia majora morphology, Decreased testicular size, A... |
ORPHA:90791 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Infertility, Hypertension |
OMIM:615962 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Oligomenorrhea |
OMIM:613877 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Infertility |
ORPHA:1445 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad... |
OMIM:308700 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia |
OMIM:300200 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Polycystic ovaries |
ORPHA:79084 |
Potocki-Shaffer Syndrome |
|
Micropenis, Hypertension |
ORPHA:52022 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
48,Xxyy Syndrome |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Infertility, Hypoplasia of penis, Hypergo... |
ORPHA:10 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Decreased testicular size, Azoospermia, Cerebral hemorrhage, Hypertension... |
OMIM:300845 |
Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus, Hypertension, Primary amenorrhea |
OMIM:191830 |
Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Ganglioneuroma |
|
Hypertension, Gastrointestinal hemorrhage, Abnormal prostate morphology |
ORPHA:251992 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... |
ORPHA:36382 |
49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... |
ORPHA:99330 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... |
ORPHA:90793 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... |
OMIM:540000 |
Liddle Syndrome |
|
Arrhythmia, Cerebral ischemia, Hypertension |
ORPHA:526 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Hypertension, Cardiomyopathy |
OMIM:102200 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Cryptorchidism |
ORPHA:1192 |
Coproporphyria, Hereditary |
|
Tachycardia, Hypertension |
OMIM:121300 |
Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... |
OMIM:137920 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
Riboflavin Transporter Deficiency |
|
Hypogonadism, Hypertension |
ORPHA:97229 |
Polycystic Kidney Disease 5 |
|
Hypertension |
OMIM:617610 |
Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Hypertension |
OMIM:615238 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Irregular menstruation, Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia... |
ORPHA:90795 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Tako-Tsubo Cardiomyopathy |
|
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... |
ORPHA:66529 |
48,Xxxy Syndrome |
|
Small scrotum, Pulmonary embolism, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorc... |
ORPHA:96263 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Lipodystrophy, Familial Partial, Type 3 |
|
Polycystic ovaries, Hypertension, Oligomenorrhea, Primary amenorrhea |
OMIM:604367 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Hypospadias |
OMIM:201910 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Papillary cystadenoma of the epididymis, Hypospadias, Bicornuate uterus |
ORPHA:93111 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension |
ORPHA:71529 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia, Oligomenorrhea, Oligozoosp... |
ORPHA:786 |
49,Xxxxy Syndrome |
|
Small scrotum, Pulmonary embolism, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorc... |
ORPHA:96264 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Hypotension, Hypertrophic cardiomyopathy, Azoospermia,... |
ORPHA:361 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Ochoa Syndrome |
|
Hypertension, Cryptorchidism |
ORPHA:2704 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Polycystic ovaries, Dysmenorrhea, Oligomen... |
ORPHA:79083 |
Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... |
ORPHA:3287 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Micropenis, Tachycardia, Hypertension |
OMIM:613870 |
Cystic Fibrosis |
|
Absent vas deferens, Male infertility |
ORPHA:586 |
Preeclampsia |
|
Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension, Polycystic ova... |
ORPHA:275555 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure |
ORPHA:1349 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Oligozoospermia, Abnormal te... |
ORPHA:85450 |
Lead Poisoning |
|
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... |
ORPHA:330015 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Amyloidosis, Hereditary Systemic 2 |
|
Hypertension |
OMIM:105200 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... |
OMIM:194080 |
Methanol Poisoning |
|
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... |
ORPHA:31825 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension |
ORPHA:567544 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Myocardial infarction, Cerebral hemorrhage |
OMIM:133100 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension |
OMIM:603278 |
Sneddon Syndrome |
|
Ischemic stroke, Hypertension, Cerebral hemorrhage |
OMIM:182410 |
Werner Syndrome |
|
Congestive heart failure, Hypogonadism, Decreased fertility, Myocardial infarction, Telangiectasi... |
ORPHA:902 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Cerebral hemorrhage, Lacunar strok... |
ORPHA:136 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Apla... |
ORPHA:2232 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation |
OMIM:301080 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... |
ORPHA:90065 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility |
OMIM:614874 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension |
OMIM:616733 |
Polyarteritis Nodosa |
|
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis |
ORPHA:767 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension |
OMIM:608600 |
Prader-Willi Syndrome |
|
Precocious puberty, Small scrotum, Hypogonadism, Decreased testicular size, External genital hypo... |
ORPHA:739 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:600666 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... |
OMIM:202010 |
Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension |
OMIM:166300 |
H Syndrome |
|
Hypogonadism, Decreased testicular size, Azoospermia, Facial telangiectasia, Abnormal cardiovascu... |
ORPHA:168569 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
Familial Cerebral Saccular Aneurysm |
|
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage |
ORPHA:231160 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypertension |
OMIM:611489 |
Classic Galactosemia |
|
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... |
ORPHA:79239 |
Coach Syndrome 2 |
|
Hypertension |
OMIM:619111 |
8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis |
ORPHA:251066 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
Postorgasmic Illness Syndrome |
|
Palpitations, Hypertension |
ORPHA:279947 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation |
OMIM:173900 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Azoospermia |
ORPHA:300298 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Ovarian neoplasm, Hypertension |
ORPHA:231632 |
Tsh-Secreting Pituitary Adenoma |
|
Irregular menstruation, Male hypogonadism, Hypotension, Congestive heart failure, Abnormality of ... |
ORPHA:91347 |
Nephronophthisis 18 |
|
Hypertension |
OMIM:615862 |
Hyperaldosteronism, Familial, Type I |
|
Hypertension |
OMIM:103900 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension |
OMIM:615980 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
Glutaric Aciduria Iii |
|
Hypertension |
OMIM:231690 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension |
ORPHA:363400 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
C3 Glomerulopathy |
|
Hypertension |
ORPHA:329918 |
Igg4-Related Retroperitoneal Fibrosis |
|
Varicocele, Budd-Chiari syndrome, Large vessel vasculitis, Hypertension, Retrograde ejaculation, ... |
ORPHA:49041 |
Developmental And Epileptic Encephalopathy 111 |
|
Hypertension, Premature ventricular contraction, Sinus tachycardia, Cryptorchidism |
OMIM:620504 |
Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Diffuse Cutaneous Systemic Sclerosis |
|
Hypertensive crisis, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp... |
ORPHA:220393 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Pituitary Apoplexy |
|
Hypotension, Impotence, Oligomenorrhea, Hypertension, Hypergonadotropic hypogonadism |
ORPHA:95613 |
Myhre Syndrome |
|
Abnormal penis morphology, Precocious puberty, Hypogonadism, External genital hypoplasia, Cryptor... |
ORPHA:2588 |
Caudal Regression Syndrome |
|
Ambiguous genitalia, Hypertension, Cryptorchidism |
ORPHA:3027 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Stiff Skin Syndrome |
|
Hypertension |
ORPHA:2833 |
Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Azoospermia, Decreased fertility in fema... |
OMIM:210900 |
Liddle Syndrome 1 |
|
Hypertension |
OMIM:177200 |
Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Ovarian cyst |
OMIM:610475 |
Adrenocortical Carcinoma |
|
Palpitations, Hypertension, Abnormality of reproductive system physiology |
ORPHA:1501 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... |
ORPHA:91 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Myocardial infarction |
OMIM:618620 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Hypertension, Cryptorchidism, Prominent scrotal raphe |
ORPHA:1555 |
Heme Oxygenase 1 Deficiency |
|
Epistaxis, Diffuse alveolar hemorrhage, Hypertension |
OMIM:614034 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Secondary amenorrhea |
OMIM:610489 |
Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
Wagro Syndrome |
|
Decreased testicular size, Hypoplastic female external genitalia, Hypertension |
OMIM:612469 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block |
OMIM:617021 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... |
ORPHA:369929 |
Mercury Poisoning |
|
Tachycardia, Hypotension, Hypertension |
ORPHA:330021 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... |
OMIM:230800 |
Alopecia Universalis |
|
Hypertension |
ORPHA:701 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension |
OMIM:602088 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Hypertension |
OMIM:613320 |
Fabry Disease |
|
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypertension, M... |
OMIM:301500 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension |
OMIM:618913 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c... |
ORPHA:95699 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypert... |
OMIM:242900 |
Nephroblastoma |
|
Hypertension |
ORPHA:654 |
Bloom Syndrome |
|
Azoospermia, Telangiectasia, Oligozoospermia, Premature ovarian insufficiency, Male infertility |
ORPHA:125 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension |
OMIM:617763 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension |
ORPHA:525731 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension |
ORPHA:77296 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Hypertension, Arrhythmia, Hypospadias |
OMIM:614052 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Atrioventricular block, Hypertension, Polycystic ovaries |
ORPHA:371428 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis |
OMIM:610205 |
Infant Botulism |
|
Cardiac arrest, Hypotension, Hypertension |
ORPHA:178478 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp... |
ORPHA:183 |
Apparent Mineralocorticoid Excess |
|
Hypertension |
OMIM:218030 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Oligomenorrhea |
OMIM:219090 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Sickle Cell Disease |
|
Hypertension, Priapism |
OMIM:603903 |
Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension |
ORPHA:494424 |
Aicardi-Goutieres Syndrome 9 |
|
Portal hypertension, Micropenis, Hypertension, Increased blood pressure, Pericarditis |
OMIM:619487 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Azoospermia, Facial telangiectasia, Pulmonic stenosis, Pulmonary arterial hypertension, Micropeni... |
OMIM:602782 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypotension, Impotence |
ORPHA:93256 |
Stiff-Person Syndrome |
|
Tachycardia, Hypertension |
OMIM:184850 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Palpitations, Hypertension |
ORPHA:231580 |
Polycythemia Vera |
|
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... |
ORPHA:729 |
Bardet-Biedl Syndrome 1 |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Vaginal atresia, Micropenis, H... |
OMIM:209900 |
Cockayne Syndrome Type 1 |
|
Male hypogonadism, Hypertension, Cryptorchidism |
ORPHA:90321 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension |
OMIM:123550 |
Schimke Immuno-Osseous Dysplasia |
|
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar... |
ORPHA:1830 |
Fanconi Anemia |
|
Abnormality of the uterus, Hypogonadism, Hypertrophic cardiomyopathy, Azoospermia, Cryptorchidism... |
ORPHA:84 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Re... |
ORPHA:247691 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Alagille Syndrome |
|
Telangiectasia of the skin, Hypertension, Cryptorchidism |
ORPHA:52 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171300 |
Renal Hypoplasia, Bilateral |
|
Hypertension, Cryptorchidism |
ORPHA:97362 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia, Hypertension |
OMIM:219250 |
Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Priapism, Congestive heart failure, Bundle branch block, Car... |
ORPHA:466677 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypospadias, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hypertension |
OMIM:123790 |
Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Cryptorchidism |
OMIM:613834 |
Acquired Generalized Lipodystrophy |
|
Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy, Polycystic ovaries |
ORPHA:79086 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension |
OMIM:615954 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Hypertension |
OMIM:610965 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension |
ORPHA:2169 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Aortic Arch Interruption |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... |
ORPHA:2299 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Telangiectasia of the s... |
ORPHA:758 |
Coach Syndrome 1 |
|
Hypertension, Portal hypertension |
OMIM:216360 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Irregular menstruation, Hypertension, Abnormal libido |
ORPHA:189427 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Papillary cystadenoma of the epididymis, Hypertension |
OMIM:193300 |
Von Hippel-Lindau Disease |
|
Cardiomyopathy, Abnormal left ventricular function, Palpitations, Arrhythmia, Myocarditis, Epidid... |
ORPHA:892 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension |
OMIM:615830 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Hypertension, Myocardial infarction, Congestive heart failure |
OMIM:208000 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension |
OMIM:613677 |
Crimean-Congo Hemorrhagic Fever |
|
Tachycardia, Epididymitis, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperi... |
ORPHA:99827 |
Serotonin Syndrome |
|
Tachycardia, Hypotension, Hypertension |
ORPHA:43116 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... |
ORPHA:90068 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension |
OMIM:619758 |
Carney Complex |
|
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... |
ORPHA:1359 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Hypertension |
OMIM:215600 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block |
OMIM:615474 |
Simple Cryoglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Raynaud phenomenon, Hypertensi... |
ORPHA:91139 |
Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... |
ORPHA:31826 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension |
OMIM:219080 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Hydrocele testis, Pulmonary embolism |
ORPHA:567546 |
Adenine Phosphoribosyltransferase Deficiency |
|
Atrial fibrillation, Hypertension |
ORPHA:976 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Reduced sperm motility |
ORPHA:730 |
Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... |
ORPHA:900 |
Acute Interstitial Pneumonia |
|
Hypertension |
ORPHA:79126 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... |
ORPHA:3342 |
Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension |
OMIM:176000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension |
OMIM:612924 |
Birk-Landau-Perez Syndrome |
|
Hypertension |
OMIM:617595 |
Overlap Myositis |
|
Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon |
ORPHA:206572 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension |
OMIM:612926 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Tachycardia, Hypertension, Orthostatic hypotension |
OMIM:223900 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Hypertension |
ORPHA:134 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction |
OMIM:208060 |
Multiple Endocrine Neoplasia, Type Iia |
|
Palpitations, Hypertension |
OMIM:171400 |
Porphyria Variegata |
|
Tachycardia, Hypertension |
ORPHA:79473 |
Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... |
ORPHA:94093 |
Alexander Disease |
|
Precocious puberty, Hypotension, Sudden cardiac death, Hypertension |
ORPHA:58 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:613095 |
Poliomyelitis |
|
Hypovolemic shock, Hypotension, Hypertension |
ORPHA:2912 |
Alstrom Syndrome |
|
Irregular menstruation, Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypergona... |
OMIM:203800 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension |
OMIM:612925 |
Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Ischemic stroke, Telangiectases of the cheeks, Hyper... |
OMIM:208050 |
Apert Syndrome |
|
Ovarian neoplasm, Hypertension |
ORPHA:87 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:29072 |
Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
Apparent Mineralocorticoid Excess |
|
Hypertension |
ORPHA:320 |
Hallermann-Streiff Syndrome |
|
Telangiectasia, Pulmonary arterial hypertension, Hypertension, Cryptorchidism |
OMIM:234100 |
Acromegaly |
|
Long penis, Hypertrophic cardiomyopathy, Wide penis, Mitral regurgitation, Dysmenorrhea, Hyperten... |
ORPHA:963 |
Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... |
ORPHA:340 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension |
OMIM:256700 |
Nestor-Guillermo Progeria Syndrome |
|
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... |
OMIM:614008 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Myocardial infarction |
OMIM:615812 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension |
ORPHA:449291 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia |
OMIM:614653 |
Cockayne Syndrome A |
|
Irregular menstruation, Hypogonadism, Cryptorchidism, Arrhythmia, Micropenis, Hypertension |
OMIM:216400 |
Spondyloenchondrodysplasia |
|
Vasculitis, Hypertension, Raynaud phenomenon |
ORPHA:1855 |
Familial Dysautonomia |
|
Tachycardia, Hypertension, Orthostatic hypotension |
ORPHA:1764 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm... |
ORPHA:91387 |
Fabry Disease |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... |
ORPHA:324 |
Acute Transverse Myelitis |
|
Priapism, Subarachnoid hemorrhage, Orthostatic hypotension, Abnormal libido, Hypertension |
ORPHA:139417 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension |
ORPHA:251004 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... |
OMIM:201750 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension |
ORPHA:139411 |
Carey-Fineman-Ziter Syndrome |
|
Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Portal hypertension, Hematemesis |
OMIM:263200 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Hypertension, Congestive heart failure |
ORPHA:1457 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Epistaxis, Pulmonary venous hypertension, Polycystic ovaries, Hypertensio... |
ORPHA:79259 |
Bardet-Biedl Syndrome |
|
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, Hypog... |
ORPHA:110 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Ischemic stroke, Hypertension |
ORPHA:542643 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypotension, Hypertension |
OMIM:174000 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... |
OMIM:600376 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Alkaptonuria |
|
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Prostatitis, Hypertension, Myocardi... |
ORPHA:56 |
Postinfectious Vasculitis |
|
Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Orchitis, Raynaud phenomenon, Vasculitis in... |
ORPHA:48435 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Pulmonary arterial h... |
OMIM:602535 |
Lipodystrophy, Familial Partial, Type 2 |
|
Labial pseudohypertrophy, Hypertension, Polycystic ovaries |
OMIM:151660 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension |
ORPHA:98808 |
Alport Syndrome |
|
Clitoral hypertrophy, Hypertension |
ORPHA:63 |
Somatomammotropinoma |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Dysmenorrhea, Hypertension, Hypogonadotropic h... |
ORPHA:314769 |
Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Small scrotum, Bifid scrotum, Hypertrophic cardiomyopathy, Septate vagina, Cr... |
OMIM:270400 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Oligomenorrhea, Hypergonadotropic hypogonadism, Hypertension |
ORPHA:79443 |
Hurler Syndrome |
|
Angina pectoris, Hypertension, Cardiomyopathy |
ORPHA:93473 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Testicular neoplasm |
ORPHA:199244 |
Gaisböck Syndrome |
|
Elevated diastolic blood pressure, Angina pectoris, Hypertension, Myocardial infarction, Hypovolemia |
ORPHA:90041 |
Renal Hypoplasia |
|
Hypertension |
ORPHA:93101 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Delayed menarche, Left ventricular systolic dysfunct... |
ORPHA:740 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Intracranial hemorrhage, H... |
ORPHA:363618 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype... |
ORPHA:394 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension |
ORPHA:69663 |
Cushing Disease |
|
Capillary fragility, Amenorrhea, Myocardial infarction, Oligomenorrhea, Abnormal libido, Hyperten... |
ORPHA:96253 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypospadias, Mitral regurgitation, Hypertension |
OMIM:611962 |
Seckel Syndrome 10 |
|
Hypertension, Congestive heart failure |
OMIM:617253 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval |
OMIM:614947 |
Galloway-Mowat Syndrome 3 |
|
Hypertension |
OMIM:617729 |
Multicystic Dysplastic Kidney |
|
Hypertension, Cryptorchidism |
ORPHA:1851 |
Oculocerebrorenal Syndrome Of Lowe |
|
Azoospermia, Cryptorchidism |
ORPHA:534 |
Atypical Werner Syndrome |
|
Aortic valve stenosis, Congestive heart failure, Hypogonadism, Decreased fertility, Telangiectasi... |
ORPHA:79474 |
Neuroblastoma |
|
Hypertension |
ORPHA:635 |
Au-Kline Syndrome |
|
Hypertension, Cryptorchidism |
OMIM:616580 |
Papillorenal Syndrome |
|
Hypertension |
OMIM:120330 |
Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension |
ORPHA:402075 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Azoospermia, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis |
ORPHA:2072 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension |
OMIM:235400 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension |
OMIM:613159 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Hypertension |
OMIM:615688 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
Cockayne Syndrome B |
|
Micropenis, Arrhythmia, Hypertension, Cryptorchidism |
OMIM:133540 |
Acute Intermittent Porphyria |
|
Tachycardia, Hypertension |
ORPHA:79276 |
Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Alport Syndrome 1, X-Linked |
|
Hypertension |
OMIM:301050 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility |
OMIM:227650 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension |
OMIM:612780 |
Oligomeganephronia |
|
Hypertension |
ORPHA:2260 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Primary amen... |
ORPHA:99413 |
Turner Syndrome |
|
Female infertility, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Primary amen... |
ORPHA:881 |
Mosaic Monosomy X |
|
Female infertility, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Primary amen... |
ORPHA:99228 |
Monosomy X |
|
Female infertility, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Primary amen... |
ORPHA:99226 |
Orofaciodigital Syndrome I |
|
Hypertension, Ovarian cyst |
OMIM:311200 |
Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Cardiomyopathy, Cryptorchidism, Hypertension, Hypoplastic labia majora, Pul... |
ORPHA:3472 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension |
OMIM:104200 |
Glycogen Storage Disease Ia |
|
Hypertension |
OMIM:232200 |
Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hematemesis, Hypertension |
OMIM:615846 |
Myhre Syndrome |
|
Aortic valve stenosis, Hypertension, Cryptorchidism |
OMIM:139210 |
Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Imperforate hymen, Pulmonary arterial hypertension, Hypertension, Pulmonic... |
OMIM:100300 |
Multiple Endocrine Neoplasia Type 1 |
|
Decreased male libido, Shortened QT interval, Hypertension, Amenorrhea, Hematemesis, Melena, Impo... |
ORPHA:652 |
Senior-Boichis Syndrome |
|
Hypertension, Portal hypertension |
ORPHA:84081 |
Williams Syndrome |
|
Precocious puberty, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebral ischemia, Sup... |
ORPHA:904 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Impotence, Pulmonary embolism, Budd-Chiari syndrome, Hypertension, Myocardial infarction |
ORPHA:447 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypertension, Myocardial infarction |
ORPHA:90038 |
Glycogen Storage Disease Ib |
|
Hypertension |
OMIM:232220 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Cockayne Syndrome |
|
Retinal hemorrhage, Hypertension, Cryptorchidism |
ORPHA:191 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertensive crisis, Hypertension |
ORPHA:544482 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
Glycogen Storage Disease Ic |
|
Spider hemangioma, Pulmonary arterial hypertension, Hypertension |
OMIM:232240 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi... |
OMIM:619573 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hypertension |
OMIM:266920 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Palpitations, Hypertension associated with pheochromocytoma, Cervical neoplasm |
ORPHA:653 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:217085 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Capillary fragility, Prostate cancer, Amenorrhea, Myocardial infarction, Oligomenorrhea, Abnormal... |
ORPHA:99889 |
Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:217093 |
Xq21 Microdeletion Syndrome |
|
Hypertension |
ORPHA:1435 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypertension |
OMIM:617913 |
Renal Dysplasia |
|
Hypertension, Vesicovaginal fistula |
ORPHA:93108 |
Mucopolysaccharidosis Type 2 |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:580 |
Cranioectodermal Dysplasia 2 |
|
Hypertension |
OMIM:613610 |
Orofaciodigital Syndrome Type 1 |
|
Hypertension |
ORPHA:2750 |
Arima Syndrome |
|
Hypertension |
OMIM:243910 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Hypertension, Cryptorchidism |
ORPHA:636 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micropenis, Hypertension, Cryptorchidism |
OMIM:210710 |
22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Abnormality of the uterus, Cryptorchidism, Corn... |
ORPHA:567 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypertrophic cardiomyopathy, Hypospadias, Mitral regurgitation, Hypertension |
OMIM:220111 |
Scalp-Ear-Nipple Syndrome |
|
Hypertension |
ORPHA:2036 |
Hardikar Syndrome |
|
Hypertension, Portal hypertension, Hematemesis |
OMIM:301068 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension, Vesicovaginal fistula |
OMIM:300896 |
Homozygous Familial Hypercholesterolemia |
|
Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina pectoris, Heart murmur,... |
ORPHA:391665 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypertension, Portal hypertension |
ORPHA:731 |
17Q11 Microdeletion Syndrome |
|
Precocious puberty, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Telangiectasia ... |
ORPHA:97685 |
Pierson Syndrome |
|
Retinal hemorrhage, Hypertension |
OMIM:609049 |
Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage |
ORPHA:805 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arterial hypertension, Hypertension, Orthostatic hypotension |
OMIM:606721 |
Blau Syndrome |
|
Large vessel vasculitis, Pulmonary arterial hypertension, Hypertension, Pericarditis |
ORPHA:90340 |
Systemic Lupus Erythematosus |
|
Hypertension, Raynaud phenomenon |
ORPHA:536 |
Neurofibromatosis, Type I |
|
Hypertension |
OMIM:162200 |
Alström Syndrome |
|
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Dilated cardiomyopath... |
ORPHA:64 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Transient ischemic attack, Cystocele, Cryptorchidism, Uterine prolapse, Hyperten... |
ORPHA:286 |
Williams-Beuren Syndrome |
|
Portal hypertension, Supravalvular aortic stenosis, Mitral regurgitation, Micropenis, Hypertensio... |
OMIM:194050 |
Hypomagnesemia 3, Renal |
|
Hypertension |
OMIM:248250 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypertension, Hypospadias, Cryptorchidism, Corneal neovascularization |
OMIM:308205 |
Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Left ventricular systolic dysfunction, Weak pulse, Pulmonary arterial ... |
ORPHA:51608 |