| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... |
ORPHA:1646 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
| Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
| 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 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
| 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 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Cryptorchidism |
OMIM:219050 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility |
OMIM:617593 |
| Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
| Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia |
OMIM:273150 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Primary... |
OMIM:614840 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... |
OMIM:619177 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Ambiguous genitalia, Abnormality of thyroid physiology, Microphallus, Cryptorchidism, Corpus cave... |
OMIM:615542 |
| 7P22.1 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:314034 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Exertional dyspnea, Cerebral hemorrhage, Increased hematocrit, Hyp... |
OMIM:133100 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, 3-Methylglutaconic aciduria, Normochromic microcytic anemia, Elevated circu... |
OMIM:610198 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti... |
ORPHA:529799 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... |
ORPHA:3202 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| 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 |
| Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
| Rhabdoid Tumor |
|
Respiratory insufficiency, Anemia, Neoplasm of the liver, Hematuria, Hypertension, Internal hemor... |
ORPHA:69077 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Abnormal autonomic nervous system physiology, Elevated hepatic transaminase, Elevate... |
ORPHA:94093 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:614858 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Renal insufficiency, Hypercalcemia, Hepatomegaly, Thrombocytopenia, Abnormal vagina morph... |
ORPHA:2123 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Perineal hypospadias, Bifid scrotum, Ambiguous genitalia, male, Cryptorchidism, Abnormality of th... |
OMIM:264600 |
| Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperphosphatemia, Ventricula... |
ORPHA:36913 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophi... |
OMIM:613673 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s... |
ORPHA:753 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism |
ORPHA:1074 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
| Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Infertility, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:146110 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Episodic tachypnea, Jaundice, Elevated hepatic trans... |
ORPHA:26793 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| 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 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Abnormal circulating A-type atrial natriuretic peptide concen... |
ORPHA:57777 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Hematuria, Elevated circulating creatine kinase concentration, Pericarditis, Increased bl... |
ORPHA:231111 |
| Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Micropenis, Hypogonadism, Cryptorchidism |
ORPHA:85274 |
| N Syndrome |
|
Hypospadias, Cryptorchidism |
ORPHA:2608 |
| Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Abnormal T-wave, Torsade de pointes, Abnormal autonomic nervous system phys... |
ORPHA:101016 |
| Polydactyly-Myopia Syndrome |
|
Cryptorchidism |
ORPHA:2917 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... |
ORPHA:752 |
| 46,Xy Sex Reversal 8 |
|
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism |
OMIM:614279 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hyperparathyroidism, Hypercalcemia, Proteinuria, Renal insufficiency |
ORPHA:2668 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Elev... |
ORPHA:264675 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Hyperalaninemia, Hypoornithinemia, Ketonuria, Elevated uri... |
OMIM:615751 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cranial nerve com... |
ORPHA:94080 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... |
ORPHA:45452 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Elevated circulating erythropoietin concentration, Increased hemoglobin, Po... |
OMIM:611783 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Neutropenia, Hyponatremia |
OMIM:616949 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Elevated circulating erythropoietin concentration, Increased hemoglobin, Po... |
OMIM:617907 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
| Hereditary Coproporphyria |
|
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Anemia, Porphyrinuria, H... |
ORPHA:79273 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... |
OMIM:202150 |
| Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Crescentic glomerulonephritis, Ele... |
OMIM:616414 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Ca... |
ORPHA:94090 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Cataract, Prolonged QT interval, Elevated circulating creatine kinase concentration |
OMIM:615351 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Respiratory insufficiency, Re... |
OMIM:613845 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism |
ORPHA:1568 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Anemia, Calcinosis, Hypophosphatemia, Hyperphosphaturia, Elevated circulating para... |
OMIM:239200 |
| Timothy Syndrome |
|
Hypothyroidism, Prolonged QT interval, Hypocalcemia, Pneumonia, Bradycardia |
OMIM:601005 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Normochromic microcytic anemia, Microvesicular hepat... |
ORPHA:66634 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Hypophosphatasia |
|
Respiratory insufficiency, Anemia, Hypercalcemia, Emphysema |
ORPHA:436 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia |
OMIM:211000 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Primary Familial Polycythemia |
|
Exertional dyspnea, Polycythemia, Epistaxis, Dyspnea, Cough, Abnormal hemoglobin |
ORPHA:90042 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Avian Influenza |
|
Pneumothorax, Productive cough, Elevated hepatic transaminase, Elevated circulating creatine kina... |
ORPHA:454836 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Hypoxe... |
ORPHA:71275 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
| Hepatocellular Carcinoma |
|
Hypotension, Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Thrombocytopenia, Hemobil... |
ORPHA:88673 |
| Beta-Thalassemia |
|
Respiratory insufficiency, Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardi... |
ORPHA:848 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory dist... |
ORPHA:36238 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Hematemesis, Increas... |
ORPHA:100076 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... |
OMIM:171420 |
| Tempi Syndrome |
|
Telangiectasia, Increased hematocrit, Hypoxemia, Intracranial hemorrhage, Polycythemia, Transudat... |
ORPHA:284227 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
| Persistent Müllerian Duct Syndrome |
|
Male pseudohermaphroditism, Cryptorchidism |
ORPHA:2856 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
| Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration |
OMIM:619040 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
| Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Respiratory paralysis, Acute kidney injury, Cardiogenic shock, Hy... |
ORPHA:449285 |
| Ribose 5-Phosphate Isomerase Deficiency |
|
Optic atrophy, Decreased level of erythritol in urine, Increased level of ribose in urine, Elevat... |
OMIM:608611 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... |
ORPHA:90791 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| X-Linked Intellectual Disability, Siderius Type |
|
Decreased testicular size, Cryptorchidism |
ORPHA:85287 |
| Alpha-Heavy Chain Disease |
|
Anemia, Premature ovarian insufficiency, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Elevated circulati... |
OMIM:619658 |
| Nephrogenic Diabetes Insipidus |
|
Hyposthenuria, Enuresis nocturna, Hypovolemia, Hydroureter, Nephrogenic diabetes insipidus, Renal... |
ORPHA:223 |
| Glucose-Galactose Malabsorption |
|
Hematuria, Hypercalcemia, Renal insufficiency, Hypernatremia, Nephrolithiasis |
ORPHA:35710 |
| Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Diabetes insipidus, Decreased response to growth hormone stimulation test,... |
OMIM:615926 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Bronchiectasis, Hypoxemia, Hypertension, Pleural effusion, Crackles, Dyspnea,... |
ORPHA:79126 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Hypernatremia, Nephrogenic diabetes insipidus, Megacystis |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Hypernatremia, Diabetes insipidus, Megacystis |
OMIM:304800 |
| Mastocytosis |
|
Hypotension, Respiratory insufficiency, Asthma, Telangiectasia of the skin, Mastocytosis, Cough, ... |
ORPHA:98292 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Wheezing, Hyperkalemia, Increased circulat... |
ORPHA:171876 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Polyuria, Hypercalcemia, N... |
OMIM:616963 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
| Hemochromatosis, Type 4 |
|
Anemia, Cirrhosis, Impotence, Elevated transferrin saturation, Hepatic steatosis, Diabetes mellit... |
OMIM:606069 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... |
ORPHA:71212 |
| Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Hyperkalemia, Renal salt wasting, Increased circulating ... |
OMIM:610600 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hypotension, Hyperuricemia, Premature ovarian insufficiency, Normocytic ... |
ORPHA:199299 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ... |
ORPHA:556037 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Increased serum iron, Telangiectasia, Impotence, Azoospermia, Hepatocellular carcinoma... |
OMIM:235200 |
| Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... |
OMIM:171300 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... |
OMIM:201475 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Hypospadias, Hypercalcemia, Cryptorchidism... |
OMIM:614732 |
| Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Nephrolithiasis, Hypercalcemia, Parathyroid carcinoma |
OMIM:617343 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Anemia, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, Chronic kidney... |
ORPHA:97362 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Acute Adrenal Insufficiency |
|
Hypotension, Decreased circulating aldosterone level, Decreased female libido, Decreased circulat... |
ORPHA:95409 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... |
ORPHA:432 |
| Oculoskeletodental Syndrome |
|
Hypothyroidism, Developmental cataract, Lacunar stroke, Mucopolysacchariduria, Hypercalcemia, Hep... |
OMIM:618440 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hyperphosphatemia, Hepatic failure, Hypocapnia, Acute kidney injury... |
ORPHA:466650 |
| Colchicine Poisoning |
|
Hypotension, Renal insufficiency, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, ... |
ORPHA:31824 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Increased circulating prolactin concentration, Precocious puberty, Decreased respons... |
ORPHA:91354 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated hepat... |
ORPHA:94086 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Cryptorchidism |
ORPHA:3055 |
| Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ... |
ORPHA:556030 |
| Xq27.3Q28 Duplication Syndrome |
|
Premature ovarian insufficiency, Cryptorchidism, Hypogonadism, Decreased testicular size |
ORPHA:261483 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... |
ORPHA:754 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Phosphoethanolaminuria, Elevated urine pyrophosphate, Intr... |
OMIM:241500 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal retinal morphology on macular OCT, Enlarged kidney, Membranoproliferative glomerulonephr... |
ORPHA:251004 |
| Acute Lung Injury |
|
Increased circulating surfactant protein level, Hypoxemia, Respiratory distress, Diffuse alveolar... |
ORPHA:178320 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism |
OMIM:309585 |
| Pseudohypoparathyroidism Type 1B |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... |
ORPHA:94089 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Hypertension associated with pheochromoc... |
ORPHA:276621 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Porphyrinuria, Abnormality of the liver, Re... |
ORPHA:79473 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Decreased circulating aldosterone level, Hyperkalemia, Renal salt wasting, Increased... |
OMIM:203400 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Hype... |
ORPHA:251274 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Polycystic kidney dysplas... |
OMIM:145001 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Elevated circulating acylcarnitine concentration, Hypothyroidism, Premature t... |
OMIM:616878 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Abnormality of peripheral nerve conducti... |
ORPHA:79102 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Tachypnea, Lacticaciduria, Ne... |
ORPHA:3008 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Elevated systolic ... |
OMIM:300539 |
| Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration |
OMIM:300376 |
| Addison Disease |
|
Hypotension, Decreased circulating aldosterone level, Decreased female libido, Decreased circulat... |
ORPHA:85138 |
| Ethylene Glycol Poisoning |
|
Hypotension, Episodic respiratory distress, Renal insufficiency, Decreased urine output, Renal tu... |
ORPHA:31826 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Cocaine Intoxication |
|
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... |
ORPHA:90068 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Abnormality... |
ORPHA:1667 |
| Hypercalcemia, Infantile, 1 |
|
Medullary nephrocalcinosis, Polyuria, Hypercalcemia, Nephrocalcinosis, Decreased circulating para... |
OMIM:143880 |
| Tetanus |
|
Abnormal autonomic nervous system physiology, Elevated urinary epinephrine, Hypertension, Respira... |
ORPHA:3299 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Hyperglycinemia, Pancytopenia, Tachypnea, Apnea, Hyperammonemia, I... |
OMIM:606054 |
| Beta-Thalassemia Intermedia |
|
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... |
ORPHA:231222 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism |
ORPHA:1918 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Aspiration pneumonia, Microphallus, Adrenal insufficiency, Shawl scrotum, Dec... |
OMIM:617053 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development... |
OMIM:610628 |
| 47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... |
ORPHA:8 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Methylmalonic aciduria, Methylmalonic acidemia, Hyperhomocystine... |
OMIM:614857 |
| Gitelman Syndrome |
|
Parathyroid adenoma, Neoplasm of the pancreas, Graves disease, Palpitations, Decreased urinary po... |
ORPHA:358 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:612370 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sinus tachycardia... |
ORPHA:29072 |
| Bowen-Conradi Syndrome |
|
Cryptorchidism |
ORPHA:1270 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pri... |
OMIM:612526 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Elevated hepatic transaminase, Elevated crea... |
ORPHA:284426 |
| Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
| Hyperkalemic Periodic Paralysis |
|
Respiratory insufficiency, Hypokalemia, Hyperkalemia, Congestive heart failure, Elevated circulat... |
ORPHA:682 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
| Vipoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Neoplasm of the liver, Incr... |
ORPHA:97282 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Abnormal circulating creatine kinase concentration, Anemia, Hyperalaninemia, Elevated circulating... |
OMIM:615838 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:613327 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Hao-Fountain Syndrome |
|
Micropenis, Premature adrenarche, Cryptorchidism |
OMIM:616863 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... |
ORPHA:261519 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism |
DECIPHER:39 |
| Legionnaires Disease |
|
Hypotension, Respiratory insufficiency, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia... |
ORPHA:549 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Optic atrophy, Ketonuria, Abnormal EKG, Elevate... |
ORPHA:480864 |
| Familial Isolated Hyperparathyroidism |
|
Primary hyperparathyroidism, Parathyroid adenoma, Hypophosphatemia, Hyperphosphaturia, Elevated c... |
ORPHA:99879 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depr... |
ORPHA:90065 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... |
ORPHA:309854 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Pseudohypoparathyroidism Type 1C |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... |
ORPHA:79444 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... |
OMIM:618052 |
| Gitelman Syndrome |
|
Hypotension, Hypokalemia, Increased circulating renin level, Nocturia, Prolonged QT interval, Pol... |
OMIM:263800 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating ren... |
OMIM:177735 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Hyperparathyroidism, Hypercalcemia, Nephrocalcinosis, Hypercalciuria |
OMIM:239199 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... |
OMIM:618841 |
| Adenohypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95512 |
| Necrotizing Enterocolitis |
|
Hypotension, Peritonitis, Shock, Apnea, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia... |
ORPHA:391673 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Hypoxemia, Reticulocytosis, Persistence of hem... |
ORPHA:232 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Acute kidney injury, Hyperbilirubinemia,... |
ORPHA:542323 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Abnormal left ventricular function, Palpitations, Hypertensive retinopa... |
ORPHA:892 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Hyperglycinemia, Optic atrophy, Dilated cardiomyopathy, Respiratory di... |
OMIM:614299 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Blue irides, Positive ferric chloride test, Tachypnea |
OMIM:250900 |
| Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
| Fumarase Deficiency |
|
Aminoaciduria, Hepatic failure, Optic atrophy, Hyperbilirubinemia, Polycythemia, Cholestasis |
OMIM:606812 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemi... |
OMIM:620085 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ... |
OMIM:264300 |
| Whipple Disease |
|
Hypotension, Hypothyroidism, Anemia, Respiratory insufficiency, Erectile dysfunction, Pericarditi... |
ORPHA:3452 |
| Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hyperkalemia, Apnea, Hyponatremia, Adrenal hypoplasia |
OMIM:240200 |
| Alg8-Cdg |
|
Anemia, Retinopathy, Optic atrophy, Elevated hepatic transaminase, Cataract, Hyponatremia, Thromb... |
ORPHA:79325 |
| Ichthyosis, X-Linked |
|
Testicular neoplasm, Cryptorchidism |
OMIM:308100 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Supraventricular tachycardia, Acute kidney injury, Hyperkalemia, Tachypnea, El... |
ORPHA:423 |
| Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Purple urine, Ventilator... |
ORPHA:100924 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H... |
ORPHA:2905 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Decreased... |
ORPHA:54057 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
| Image Syndrome |
|
Adrenal hypoplasia, Hypospadias, Hypogonadism, Cryptorchidism |
ORPHA:85173 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypocalcemia, Hypercalcemia, Developmental cataract |
ORPHA:557003 |
| Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... |
ORPHA:168558 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... |
ORPHA:289548 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Renal salt wasting, Hypon... |
OMIM:264350 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Small pituitary gland, Cryptorchidism, Micropenis |
OMIM:614880 |
| Sarcoidosis |
|
Hypothyroidism, Abnormal conjunctiva morphology, Pneumothorax, Bronchiectasis, Keratoconjunctivit... |
ORPHA:797 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytope... |
OMIM:603553 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Hyperaldosteronism, Ven... |
ORPHA:37553 |
| N Syndrome |
|
Hypospadias, Cryptorchidism |
OMIM:310465 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Cataract, Hypoparathyroidism, Decreased circulating parathyroid hormone level,... |
OMIM:146200 |
| Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Delayed puberty, Cryp... |
OMIM:275400 |
| Cholera |
|
Hypotension, Abnormality of renal excretion, Aspiration pneumonia, Acute kidney injury, Hypokalem... |
ORPHA:173 |
| Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Hypogonadism, Cryptorchidism |
OMIM:615982 |
| 48,Xyyy Syndrome |
|
Male hypogonadism, Primary gonadal insufficiency, Azoospermia |
ORPHA:99329 |
| Tetralogy Of Fallot |
|
Cryptorchidism |
ORPHA:3303 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper... |
OMIM:614736 |
| Congenital Isolated Acth Deficiency |
|
Hypotension, Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Adrenocorticotropin d... |
ORPHA:199296 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
| Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Nephropathy, Cataract, Hypoparathyroidism, Abnormal calcium-phosphate regulating horm... |
ORPHA:2238 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... |
ORPHA:163976 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Intermediate Osteopetrosis |
|
Anemia, Cranial nerve compression, Optic atrophy from cranial nerve compression, Hypocalcemia, He... |
ORPHA:210110 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Renal insufficiency, Hepatitis, Peritonitis, Increased circulating metamyelocyte cou... |
ORPHA:36234 |
| Joubert Syndrome 9 |
|
Hepatic fibrosis, Episodic tachypnea, Stage 5 chronic kidney disease, Retinal dystrophy, Apnea, A... |
OMIM:612285 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Sheehan Syndrome |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:91355 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn... |
ORPHA:85451 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Congenital hypoparathyroidism, Male infertility, Hypocalcemic seizures, Hypoca... |
ORPHA:2239 |
| Pseudohypoparathyroidism Type 1A |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... |
ORPHA:79443 |
| Pituitary Apoplexy |
|
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... |
ORPHA:95613 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, ... |
OMIM:619381 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hashimoto thyr... |
ORPHA:83601 |
| Livedoid Vasculopathy |
|
Anemia, Abnormal circulating lipid concentration, Ischemic stroke, Telangiectasia of the skin, Hy... |
ORPHA:542643 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Familial Hypoaldosteronism |
|
Hypotension, Hypovolemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyperka... |
ORPHA:427 |
| Multiple Carboxylase Deficiency |
|
Optic atrophy, Respiratory distress, Organic aciduria, Hyperammonemia, Tachypnea |
ORPHA:148 |
