| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... |
OMIM:615542 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| Bifid Nose, Autosomal Dominant |
|
Cryptorchidism |
OMIM:109740 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
| 7P22.1 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:314034 |
| Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Sudden cardiac death, O... |
OMIM:610198 |
| Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
| Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morpho... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Central apnea, Hemolytic anemia, Abnormal conjunctiva morphology, Conjunctival ict... |
ORPHA:529799 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... |
ORPHA:3202 |
| 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 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Neuroleptic Malignant Syndrome |
|
Proteinuria, Hyperuricemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Pu... |
ORPHA:94093 |
| Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Respiratory insufficiency, Hematuria, Hypercalcemia, Internal hemorrhage, ... |
ORPHA:69077 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocyto... |
ORPHA:2123 |
| Hypervitaminosis A, Susceptibility To |
|
Papilledema, Abnormality of the liver, Renal insufficiency, Hypercalcemia |
OMIM:240150 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... |
ORPHA:94090 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Abnormality of the endocrine system, Ambiguous genitalia, male, Micropenis, Bifid scrotum, Crypto... |
OMIM:264600 |
| Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Hypocalcemia, Autoimmune hypoparathyroidism, Ventricular arrh... |
ORPHA:36913 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... |
ORPHA:753 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism |
ORPHA:1074 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size |
OMIM:614858 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
| Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
| 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 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypocalcemia, Episodic tachypnea, Hepatomegaly, Hypoproteinemia, Hyperammon... |
ORPHA:26793 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Retinohepatoendocrinologic Syndrome |
|
Infertility, Maturity-onset diabetes of the young, Degenerative liver disease, Elevated circulati... |
OMIM:268040 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Abnormal autonomic nervous system physiology, S... |
ORPHA:101016 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Jaundice, Abnormal A-type atrial natriuretic peptide level, Third heart sound, Incr... |
ORPHA:57777 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Micropenis |
ORPHA:85274 |
| N Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:2608 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... |
ORPHA:752 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Increased hematocrit, Cerebral hemorrhage, Hyp... |
OMIM:263400 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism |
OMIM:614279 |
| Polydactyly-Myopia Syndrome |
|
Cryptorchidism |
ORPHA:2917 |
| Neonatal Lupus Erythematosus |
|
Abnormality of the liver, Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anem... |
ORPHA:398124 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Renal insufficiency, Hypercalcemia, Hyperparathyroidism, Anemia |
ORPHA:2668 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Tachycardia, Elevated carcinoembryonic antigen level, Acute infec... |
ORPHA:264675 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... |
OMIM:611783 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Maternal ... |
ORPHA:45452 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... |
OMIM:617907 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cranial nerve com... |
ORPHA:94080 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Chronic kidney disease, Leukopenia, Polyuria, Respiratory insufficiency, Pulmonar... |
OMIM:613845 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Hyponatremia, Neutropenia |
OMIM:616949 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Cryptorchidism, Microphallus, Micropenis |
OMIM:218450 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Elevated circulating parathy... |
ORPHA:94089 |
| Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
| Gaisböck Syndrome |
|
Angina pectoris, Increased hematocrit, Hypertension, Hypovolemia, Hyperproteinemia, Elevated plas... |
ORPHA:90041 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Pulmonary hemorrhage, Decreased DLCO, Coug... |
OMIM:616414 |
| Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
| Cardiomyopathy, Dilated, 1D |
|
Increased circulating brain natriuretic peptide concentration, Sudden cardiac death, Increased le... |
OMIM:601494 |
| Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypoplasia of penis, Hypochromic microcytic anemia, Elevated ci... |
ORPHA:66634 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Cataract |
OMIM:615351 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Cryptorchidism, M... |
OMIM:202150 |
| Timothy Syndrome |
|
Hypocalcemia, Hypothyroidism, Pneumonia, Prolonged QT interval, Bradycardia |
OMIM:601005 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia, Cough, Dyspnea, Exertional dyspnea, Epistaxis |
ORPHA:90042 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism |
ORPHA:1568 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Elevated circulating parathyroid hor... |
OMIM:239200 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
| Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... |
ORPHA:848 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
| Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ma... |
ORPHA:71275 |
| Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... |
OMIM:613280 |
| Hypophosphatasia |
|
Respiratory insufficiency, Anemia, Hypercalcemia, Emphysema |
ORPHA:436 |
| Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumonia, Hypoxemia... |
ORPHA:454836 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Hypoxemia, Telangiectasia, Transudat... |
ORPHA:284227 |
| Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:36238 |
| Duodenal Neuroendocrine Tumor |
|
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Righ... |
ORPHA:100076 |
| Persistent Müllerian Duct Syndrome |
|
Male pseudohermaphroditism, Cryptorchidism |
ORPHA:2856 |
| Snakebite Envenomation |
|
Respiratory paralysis, Epistaxis, Tachycardia, Intracranial hemorrhage, Cardiogenic shock, Hypote... |
ORPHA:449285 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Pheochromocytoma,... |
OMIM:171420 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
| Hepatocellular Carcinoma |
|
Hepatomegaly, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyponatremia, Hepatic ... |
ORPHA:88673 |
| Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of xylitol in urine, Increased level of D-threitol in urine, Increased level of r... |
OMIM:608611 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism |
OMIM:309585 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
| Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Increased QRS voltage, Prolonged QTc interval |
OMIM:619040 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
| Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Hypovolemia, Hyposthenuria, Hydroureter, Hypernatremia, Functiona... |
ORPHA:223 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85287 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Premature ovarian insufficiency |
ORPHA:100025 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619658 |
| Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia |
ORPHA:35710 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Hypernatremia, Hydronephrosis, Pituitary h... |
OMIM:615926 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproductive cough, Crackles, ... |
ORPHA:79126 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Arrhyth... |
ORPHA:171876 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Impotence, Hepatomegaly, Cirrhosis, Arrhythmia, Cat... |
OMIM:606069 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Nephrogenic diabetes insipidus, Polyuria, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2183 |
| Mastocytosis |
|
Asthma, Telangiectasia of the skin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arrhyt... |
ORPHA:98292 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... |
ORPHA:457083 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... |
ORPHA:71212 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating 18-hydrox... |
OMIM:610600 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Impotence, Hepatome... |
OMIM:235200 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
| Hereditary Coproporphyria |
|
Dark urine, Respiratory insufficiency, Increased urinary porphobilinogen, Elevated urinary delta-... |
ORPHA:79273 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... |
ORPHA:90647 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Colchicine Poisoning |
|
Respiratory distress, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, ... |
ORPHA:31824 |
| Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis |
OMIM:300982 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hypercalciuria, Hypothyroidism, Mucopolysacchariduria, ... |
OMIM:618440 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Hypercalciuria, A... |
OMIM:614732 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased ... |
ORPHA:432 |
| Hyperparathyroidism 4 |
|
Nephrolithiasis, Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:617343 |
| Exercise-Induced Malignant Hyperthermia |
|
Decreased liver function, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depr... |
ORPHA:466650 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
| Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating renin level,... |
ORPHA:95409 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Cerebral hemorrhage, Hypertensive reti... |
OMIM:171300 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Hypophosphatasia, Infantile |
|
Apnea, Elevated plasma pyrophosphate, Intracranial hemorrhage, Phosphoethanolaminuria, Hypercalci... |
OMIM:241500 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated hepatic transaminase, Elevated circulating thyro... |
ORPHA:94086 |
| Porphyria Variegata |
|
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervous ... |
ORPHA:79473 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular ... |
ORPHA:251004 |
| Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Acute Lung Injury |
|
Respiratory distress, Increased circulating surfactant protein level, Elevated circulating C-reac... |
ORPHA:178320 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow... |
ORPHA:91354 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Respiratory arrest, Periportal fibrosis, Hyperammonemia, S... |
OMIM:201475 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... |
ORPHA:199299 |
| Xq27.3Q28 Duplication Syndrome |
|
Premature ovarian insufficiency, Cryptorchidism, Decreased testicular size, Hypogonadism |
ORPHA:261483 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Intracranial hemorrhage, Hypercalciuria, Adrenal hyperplasia, Prolonged QT interval,... |
ORPHA:251274 |
| Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556037 |
| Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:276621 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension, Hyponatr... |
OMIM:203400 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hypothyroidism, ... |
ORPHA:83601 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Lacticaciduria, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprol... |
ORPHA:3008 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... |
OMIM:278850 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Polycy... |
OMIM:145001 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Retinitis Pigmentosa 59 |
|
Cryptorchidism, Micropenis |
OMIM:613861 |
| Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Episodic respiratory distress, Hypertension, Facial pals... |
ORPHA:31826 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
| Cocaine Intoxication |
|
Respiratory distress, Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Myocardial... |
ORPHA:90068 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Torsade de pointes, Ketonuria, Hyperammonemia, ... |
OMIM:616878 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Parathyroid adenoma, Elevated circulating parathyroid hormone level, Primary hy... |
ORPHA:99879 |
| Hao-Fountain Syndrome |
|
Cryptorchidism, Premature adrenarche, Micropenis |
OMIM:616863 |
| Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556030 |
| Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... |
ORPHA:85138 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbili... |
ORPHA:1667 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... |
OMIM:300539 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... |
OMIM:614841 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... |
OMIM:612526 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:610628 |
| Tetanus |
|
Respiratory distress, Abnormal autonomic nervous system physiology, Elevated circulating creatine... |
ORPHA:3299 |
| 47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:612370 |
| Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, ... |
OMIM:617053 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Methylmalonic aciduria,... |
OMIM:614857 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
| Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves disease, Episodic hypokalem... |
ORPHA:79102 |
| Gitelman Syndrome |
|
Respiratory distress, Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldoste... |
ORPHA:358 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism |
ORPHA:1918 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hematuria, Proteinuria, Adrenal pheochromocytoma, Elevated urinary epinephrine, Cerebral hemorrha... |
ORPHA:29072 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration,... |
OMIM:613327 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
| Propionic Acidemia |
|
Apnea, Neutropenia, Hyperglycinuria, Pancreatitis, Cerebellar hemorrhage, Hyperammonemia, Hepatom... |
OMIM:606054 |
| Bowen-Conradi Syndrome |
|
Cryptorchidism |
ORPHA:1270 |
| Legionnaires Disease |
|
Lymphopenia, Pancreatitis, Splenomegaly, Respiratory insufficiency, Arrhythmia, Hematuria, Myocar... |
ORPHA:549 |
| Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
| Periventricular Nodular Heterotopia 7 |
|
Cryptorchidism |
OMIM:617201 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:261519 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Tachypnea, Abnormal circulating creatine kinase... |
OMIM:615838 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Elevated creatine kinase after exercise, Elevated hepatic transaminase, A... |
ORPHA:284426 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... |
OMIM:267700 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Myeloproliferative disorder, Increased urinar... |
ORPHA:100924 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Respiratory insufficiency, Elevated circulating creatine kinase concentration, Arrhy... |
ORPHA:682 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Congenital hypothyroidism, Hyponatremia, Cryptorchidism, Hyperkalemia, Renal ... |
OMIM:614736 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism |
DECIPHER:39 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating... |
ORPHA:480864 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Jaundice, Spl... |
ORPHA:309854 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Necrotizing Enterocolitis |
|
Apnea, Leukocytosis, Peritonitis, Hypotension, Shock, Hyponatremia, Neutropenia, Thrombocytopenia... |
ORPHA:391673 |
| Vipoma |
|
Hepatomegaly, Adrenocortical adenoma, Increased circulating prolactin concentration, Extrahepatic... |
ORPHA:97282 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Syncope, Hypothyroid... |
ORPHA:90065 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... |
ORPHA:79444 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldosteronism, Hypo... |
OMIM:177735 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Increased circulati... |
OMIM:263800 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Hypoxemia, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Elevated hepatic ... |
ORPHA:542323 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Adenohypophysitis |
|
Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating p... |
ORPHA:95512 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Chromosome 18P Deletion Syndrome |
|
Cryptorchidism, Gonadal dysgenesis, Decreased testicular size, Micropenis |
OMIM:146390 |
| Whipple Disease |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Myocarditis, Cough, Hypothyroidism, Myocar... |
ORPHA:3452 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Nephrocalcinosis |
OMIM:239199 |
| Fumarase Deficiency |
|
Hyperbilirubinemia, Aminoaciduria, Hepatic failure, Polycythemia, Cholestasis, Optic atrophy |
OMIM:606812 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... |
OMIM:618052 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Myocardial infarction, Elevated circulating catecholamine level, Adrenal pheochromoc... |
ORPHA:892 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... |
OMIM:264300 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... |
OMIM:143880 |
| Methionine Malabsorption Syndrome |
|
Tachypnea, Positive ferric chloride test, Blue irides, Aminoaciduria |
OMIM:250900 |
| Poems Syndrome |
|
Abnormality of the endocrine system, Polycythemia, Papilledema, Increased circulating prolactin c... |
ORPHA:2905 |
| Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
| Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm |
OMIM:308100 |
| Image Syndrome |
|
Hypospadias, Cryptorchidism, Adrenal hypoplasia, Hypogonadism |
ORPHA:85173 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:280679 |
| Alg8-Cdg |
|
Retinopathy, Optic atrophy, Elevated hepatic transaminase, Cataract, Hyponatremia, Anemia, Thromb... |
ORPHA:79325 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Exertional dyspnea, Polycythemia |
OMIM:250800 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Arrhythmia, Myocardial infarction, Proteinuria, Renal insu... |
ORPHA:54057 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
| Panhypophysitis |
|
Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating p... |
ORPHA:95513 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
| 49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Aspiration pneumoni... |
ORPHA:173 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:612702 |
| Oculocerebrodental Syndrome |
|
Hypocalcemia, Nephrocalcinosis, Developmental cataract, Hypercalcemia |
ORPHA:557003 |
| Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Apnea, Adrenal hypoplasia, Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Sarcoidosis |
|
Hepatomegaly, Hepatic failure, Abnormal cardiac ventricular function, Cataract, Enlarged lacrimal... |
ORPHA:797 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Episodic tachypnea, Hyperammonemia, Increased serum pyruvate, Elevated ... |
OMIM:615160 |
| Pericardial Effusion, Chronic |
|
Polycythemia, Constrictive pericarditis, Retinal arteriolar tortuosity |
OMIM:260900 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... |
OMIM:146200 |
| Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricular contraction... |
ORPHA:37553 |
| 48,Xyyy Syndrome |
|
Azoospermia, Male hypogonadism, Primary gonadal insufficiency |
ORPHA:99329 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Hypernatremia |
OMIM:615508 |
| Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Hypogonadotropic hypo... |
OMIM:275400 |
| N Syndrome |
|
Hypospadias, Cryptorchidism |
OMIM:310465 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Sheehan Syndrome |
|
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth... |
ORPHA:91355 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension, Hyponatremia, Pseudohypoal... |
OMIM:264350 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
| Tetralogy Of Fallot |
|
Cryptorchidism |
ORPHA:3303 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... |
OMIM:603553 |
| Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Nephropath... |
ORPHA:2238 |
| Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Impotence, Pituitary adenoma, Elevated circulating growth... |
ORPHA:95613 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Male infertility, Hy... |
ORPHA:2239 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... |
ORPHA:85451 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, External genital hypoplasia, Hypogonadism |
OMIM:615982 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Hypocalcemia, Peritonitis... |
ORPHA:36234 |
| Familial Hypoaldosteronism |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Proximal renal tubular acidosis, ... |
ORPHA:427 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... |
ORPHA:1930 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... |
OMIM:616425 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Band keratopathy, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
| Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea, Retinal dystrophy, Astigmatism, Cataract, Hepatic fibrosis, Stage 5 ch... |
OMIM:612285 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad... |
ORPHA:163976 |
| Livedoid Vasculopathy |
|
Telangiectasia of the skin, Graves disease, Leukocytosis, Abnormal circulating lipid concentratio... |
ORPHA:542643 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Infant Botulism |
|
Hypotension, Mydriasis, Hyponatremia, Dyspnea, Keratoconjunctivitis sicca, Cardiac arrest, Hypert... |
ORPHA:178478 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism |
OMIM:616816 |
| Shigellosis |
|
Splenic abscess, Corneal ulceration, Leukocytosis, Hypovolemic shock, Hepatic failure, Urethritis... |
ORPHA:810 |
