| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
| Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Micropenis, Cryptorchidism, Congenital adrenal hypoplasia |
OMIM:202150 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
| Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
| Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
| Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
| Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... |
OMIM:261550 |
| Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... |
OMIM:614840 |
| Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
| Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
| Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... |
OMIM:615542 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
| Bifid Nose, Autosomal Dominant |
|
Cryptorchidism |
OMIM:109740 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
| 7P22.1 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:314034 |
| Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
| Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Hypospadias, Microvesicular hepatic steatosis, Optic atrophy, Prolonged Q... |
OMIM:610198 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... |
OMIM:146110 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia |
OMIM:616949 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
| Mental Retardation, Autosomal Dominant 52 |
|
Cryptorchidism |
OMIM:617796 |
| Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
| Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
| Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Falls, Hypocalcemia |
OMIM:615883 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
| Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
OMIM:607250 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:616030 |
| Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... |
OMIM:133100 |
| Pseudohypoparathyroidism Type 2 |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Hypoc... |
ORPHA:94090 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Hypervitaminosis A, Susceptibility To |
|
Abnormality of the liver, Hypercalcemia, Renal insufficiency, Papilledema |
OMIM:240150 |
| Neuroleptic Malignant Syndrome |
|
Hypernatremia, Pulmonary embolism, Hyperphosphatemia, Hyponatremia, Hypertension, Leukocytosis, H... |
ORPHA:94093 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Abnormal vagina morphology, Hepatomegaly, Anemia, Thrombocytopenia, Renal insuffic... |
ORPHA:2123 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbi... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbi... |
ORPHA:529799 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Ambiguous genitalia, male, Micropenis, Perine... |
OMIM:264600 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Mental Retardation, Autosomal Dominant 51 |
|
Cryptorchidism |
OMIM:617788 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism |
ORPHA:1074 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... |
ORPHA:101016 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Rhabdoid Tumor |
|
Hypercalcemia, Hypertension, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia, Internal... |
ORPHA:69077 |
| Endocardial Fibroelastosis |
|
Cryptorchidism |
OMIM:226000 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Retinohepatoendocrinologic Syndrome |
|
Infertility, Optic disc pallor, Elevated circulating creatine kinase concentration, Maturity-onse... |
OMIM:268040 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
| Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures,... |
ORPHA:36913 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Cirrhotic Cardiomyopathy |
|
Ventricular arrhythmia, Third heart sound, Conjunctival icterus, Jaundice, Global systolic dysfun... |
ORPHA:57777 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Small scrotum, Abnormality of the endocrine system, Urogenital sinus anomaly, Ambi... |
ORPHA:753 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Ataxia |
OMIM:618426 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia, Hyperparathyroidism, Proteinuria, Renal insufficiency |
ORPHA:2668 |
| Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia |
OMIM:615703 |
| N Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:2608 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Micropenis, Hypoplasia of penis, Cryptorchidism |
ORPHA:85274 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Neutropenia, Elevated hepatic transa... |
ORPHA:398124 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Hypo... |
ORPHA:752 |
| 46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism |
OMIM:614279 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hematocrit, Increased ... |
OMIM:611783 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Polydactyly-Myopia Syndrome |
|
Cryptorchidism |
ORPHA:2917 |
| Central Diabetes Insipidus |
|
Hyponatremia, Lethargy |
ORPHA:178029 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Elevated urinary epinephrine,... |
ORPHA:94080 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614880 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Hematuria, Prolonged QTc interv... |
ORPHA:231111 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Micropenis, Microphallus, Cryptorchidism |
OMIM:218450 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... |
OMIM:263400 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
| Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Optic atrophy, Prolonged QT interval, H... |
ORPHA:66634 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
ORPHA:94124 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Posttransplant Acute Limbic Encephalitis |
|
Dystonia, Hyponatremia, Ataxia |
ORPHA:163921 |
| Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Elevated circulating creatine kinase concentration, Prolonged QT interval, Cataract |
OMIM:615351 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Decrea... |
OMIM:613280 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism |
ORPHA:1568 |
| Pseudohypoparathyroidism Type 1B |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Hypoc... |
ORPHA:94089 |
| Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Increased QRS voltage, Prolonged QTc interval... |
OMIM:619040 |
| Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Congestive heart failure,... |
OMIM:171420 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia |
OMIM:602390 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Gaisböck Syndrome |
|
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Cholecystitis, Nephrocalcinosi... |
ORPHA:90041 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
| Ichthyosis, X-Linked |
|
Cryptorchidism |
OMIM:308100 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Gait disturbance, Hypokalemia, Elevated circulating creatine kinase c... |
ORPHA:682 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Micropenis, Adrenal hypoplasia, Cryptorchidism, Decreased response to... |
OMIM:614732 |
| Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of D-threitol in urine, Optic atrophy, Elevated circulating ribitol concentration... |
OMIM:608611 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Anemia, Elevated transferrin saturation, Cardiomyopathy, Cirrhosis, Increased circu... |
OMIM:606069 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Hypothyroidism, Hypocalcemia |
OMIM:601005 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism |
OMIM:309585 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia |
ORPHA:100025 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Enuresis nocturna, Functional abnormality of the bladder, Nephrogenic diabetes ins... |
ORPHA:223 |
| Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency |
ORPHA:35710 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoglobinuria, Prolonged QT interval, Hyperi... |
ORPHA:71212 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
| Webb-Dattani Syndrome |
|
Hydronephrosis, Diabetes insipidus, Hypernatremia, Decreased response to growth hormone stimulati... |
OMIM:615926 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria, Nephrogenic diabetes insipidus, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria, Diabetes insipidus, Hypernatremia |
OMIM:304800 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85287 |
| Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Hepatomegaly, Prolonged QT interval, Elevated circulatin... |
ORPHA:26793 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypo... |
ORPHA:848 |
| Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Insulinoma, Melena, Intestinal carcinoid, Intrahep... |
ORPHA:100076 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Chronic kidney disease, Pulmonary arterial hypertension, Anemia, Hyperu... |
OMIM:613845 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
| Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Cryptorchidism,... |
OMIM:610628 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Hepatocellular Carcinoma |
|
Hemobilia, Abnormality of the hepatic vasculature, Portal hypertension, Liver abscess, Jaundice, ... |
ORPHA:88673 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
| Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... |
ORPHA:457083 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Ataxia, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
| Acute Adrenal Insufficiency |
|
Androgen insufficiency, Decreased female libido, Adrenal hypoplasia, Renal salt wasting, Increase... |
ORPHA:95409 |
| Pheochromocytoma |
|
Episodic hypertension, Hypercalcemia, Developmental cataract, Cerebral hemorrhage, Tachycardia, C... |
OMIM:171300 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Developmental cataract, Mucopolysacchariduria, Hepatomegaly, Splenomegaly, Hypothy... |
OMIM:618440 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Lethargy |
ORPHA:427 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Oligomenorrhea, Pituitary hypothyroidism, Impotence, Adrenocorticotropic hormone de... |
ORPHA:91354 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Spl... |
OMIM:613673 |
| Hemochromatosis, Type 1 |
|
Increased serum iron, Telangiectasia, Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, ... |
OMIM:235200 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Iron deficiency anemia, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricu... |
ORPHA:90647 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Hypertension, Episodic hemolytic anemia, Macular dystrophy,... |
ORPHA:251004 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Optic atrophy, Myoglobinuria, Premature pubarche, Elevated circulati... |
OMIM:616878 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Ne... |
OMIM:145001 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... |
ORPHA:251274 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromocytoma... |
ORPHA:276621 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Normocyt... |
ORPHA:199299 |
| 46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Goiter, Cerebral vasculitis, Hypothyroidism, Hashim... |
ORPHA:83601 |
| Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... |
ORPHA:449285 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia |
OMIM:246700 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
| Tempi Syndrome |
|
Polycythemia, Telangiectasia, Intracranial hemorrhage, Increased hematocrit |
ORPHA:284227 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
| Retinitis Pigmentosa 59 |
|
Micropenis, Cryptorchidism |
OMIM:613861 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Elevated circulating creatine kinase co... |
OMIM:613327 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency |
ORPHA:261483 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypocalcemia, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenome... |
OMIM:612526 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
| Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
| Addison Disease |
|
Androgen insufficiency, Decreased female libido, Adrenal hypoplasia, Type I diabetes mellitus, Pr... |
ORPHA:85138 |
| Hao-Fountain Syndrome |
|
Premature adrenarche, Micropenis, Cryptorchidism |
OMIM:616863 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613582 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| 47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... |
ORPHA:8 |
| Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia, Lethargy |
OMIM:143880 |
| Porphyria Variegata |
|
Hyponatremia, Hypertension, Abnormal autonomic nervous system physiology, Inappropriate antidiure... |
ORPHA:79473 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Central hypothyroidism, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, I... |
ORPHA:1667 |
| Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Calcinosis, Hep... |
OMIM:239200 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... |
OMIM:237800 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:171876 |
| 46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:612370 |
| Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Increased erythrocyte protoporphyrin concentration, Difficulty walking, Abnormal ci... |
ORPHA:100924 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Hereditary Coproporphyria |
|
Hyponatremia, Hepatocellular carcinoma, Porphyrinuria, Tachycardia, Dark urine, Increased urinary... |
ORPHA:79273 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Elevated urinary epinephrine, Elevated urinary norepinephrine, Cer... |
ORPHA:29072 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... |
OMIM:614841 |
| Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Beta-Thalassemia Intermedia |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Jaundice, Anemia of i... |
ORPHA:231222 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Optic atrophy, Prolonged QT interval, Elevated circulating creatine kinase concentration, Elevate... |
ORPHA:480864 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism |
ORPHA:1918 |
| Bowen-Conradi Syndrome |
|
Cryptorchidism |
ORPHA:1270 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated hepatic transaminase, Exercise-induced myoglobinuria, Elevated creatine k... |
ORPHA:284426 |
| Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemia, Palpitations, Ventricular tachycardia, Delayed puberty, Hypom... |
OMIM:263800 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, ST segment depression, Prolonged QTc in... |
ORPHA:90065 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased circulating ferritin concentration, Polycyth... |
ORPHA:309854 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... |
ORPHA:261519 |
| Periventricular Nodular Heterotopia 7 |
|
Cryptorchidism |
OMIM:617201 |
| Colchicine Poisoning |
|
Myocarditis, Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Cardiogenic shock, Hypoma... |
ORPHA:31824 |
| Hypophosphatasia, Infantile |
|
Hypercalcemia, Elevated urine pyrophosphate, Intracranial hemorrhage, Nephrocalcinosis, Anemia, E... |
OMIM:241500 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
| Gitelman Syndrome |
|
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... |
ORPHA:358 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Vacuolated lymphocytes, Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Neuroendocrine neoplasm, Pancreatic islet cell adenoma, Neoplasm of the thymus, In... |
ORPHA:97289 |
| Adenohypophysitis |
|
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... |
ORPHA:95512 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal autonomic nervous system physiology, Reduced ejection fract... |
ORPHA:85451 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Elevated urinary catecholamines, Abnormal left ventricular function, Hypertension, R... |
ORPHA:892 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism |
DECIPHER:39 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Image Syndrome |
|
Hypospadias, Cryptorchidism, Hypogonadism, Adrenal hypoplasia |
ORPHA:85173 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypospadias, Intracranial hemorrhage, Adrenal insufficiency, Leukopen... |
OMIM:617053 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Prolonged QT interval, Episodic hy... |
ORPHA:79102 |
| Mastocytosis |
|
Hypercalcemia, Hepatomegaly, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Spleno... |
ORPHA:98292 |
| Fumarase Deficiency |
|
Optic atrophy, Polycythemia, Hyperbilirubinemia, Cholestasis, Hepatic failure, Aminoaciduria |
OMIM:606812 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
| Chromosome 18P Deletion Syndrome |
|
Micropenis, Decreased testicular size, Gonadal dysgenesis, Cryptorchidism |
OMIM:146390 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:289548 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Abnormal T-wave, Prolonged QT interval, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia |
OMIM:208920 |
| Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
| Pericardial Effusion, Chronic |
|
Polycythemia, Constrictive pericarditis, Retinal arteriolar tortuosity |
OMIM:260900 |
| Alg8-Cdg |
|
Hyponatremia, Optic atrophy, Anemia, Cataract, Retinopathy, Elevated hepatic transaminase, Thromb... |
ORPHA:79325 |
| Panhypophysitis |
|
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... |
ORPHA:95513 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... |
ORPHA:280679 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
| Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Cataract, Nephropathy, Hypocalcemia, Abnormal calcium-phosphate regulating ho... |
ORPHA:2238 |
| Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Prolonged QT int... |
ORPHA:79444 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased level of L-gl... |
ORPHA:3008 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Vipoma |
|
Increased circulating cortisol level, Normochromic anemia, Primary hyperparathyroidism, Diabetes ... |
ORPHA:97282 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Oculocerebrodental Syndrome |
|
Hypercalcemia, Developmental cataract, Nephrocalcinosis, Hypocalcemia |
ORPHA:557003 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Optic atrophy, Optic disc pallor, Anemia, Hyperbilirubinemia, Decreased osteoclast ... |
OMIM:259720 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
| Sheehan Syndrome |
|
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... |
ORPHA:91355 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism |
OMIM:612702 |
| 49,Xyyyy Syndrome |
|
