Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... |
ORPHA:99429 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... |
OMIM:614841 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:261534 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... |
OMIM:308700 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:99330 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
46,Xx Sex Reversal 1 |
|
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:400045 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Ventricular arrhythmia, Dyspnea, Abnormal left ventricular funct... |
ORPHA:36913 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... |
ORPHA:432 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... |
ORPHA:95512 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Respiratory insufficiency, Anemia, Hypertensi... |
OMIM:617021 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... |
ORPHA:457083 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... |
ORPHA:45452 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, T... |
ORPHA:264675 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calcification, Hyperphos... |
OMIM:127000 |
Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, High-output congestive heart failure, Tachypnea, Hyperkalemia, Ventricular tachycard... |
ORPHA:423 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract |
OMIM:146200 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Hydroxyprolinemia, Sensorineural hearing impairment, Angioid streaks of the fundus,... |
OMIM:239000 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellit... |
OMIM:520000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... |
ORPHA:98870 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... |
OMIM:614962 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator... |
OMIM:616414 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnes... |
ORPHA:428 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... |
ORPHA:465508 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris coloboma, Aplasia/Hypop... |
ORPHA:2611 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-r... |
ORPHA:36238 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati... |
ORPHA:180229 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency |
ORPHA:101006 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity |
ORPHA:3055 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615983 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... |
ORPHA:94090 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc, Hypogonadism, Decreased serum testosterone concentration, Failure to thrive... |
OMIM:201100 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia |
ORPHA:99845 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Oligozoospermia, Hypogonadism, Type II diabet... |
OMIM:602668 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas... |
ORPHA:100083 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus, Conjunctival whitish salt-like depo... |
OMIM:211900 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Developmental cataract, Anemia, Retinal calcification, Hyperphosphatemia, Hypocalcem... |
ORPHA:93325 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning |
OMIM:618970 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... |
OMIM:601820 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Dilated cardiomyopathy, Optic atrophy, Tachypnea, Respiratory insufficiency... |
OMIM:614299 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Leukocytosis, Elevated... |
ORPHA:340 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Pigmentary... |
ORPHA:79264 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Cataract, Dyspnea, Hyperphosphatemia, Conjunctivitis, Hypocalc... |
ORPHA:94089 |
Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Episodic tachypnea, Apnea, Astigmatism |
OMIM:612285 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cataract |
OMIM:612462 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Increased ... |
ORPHA:2169 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Elevated circulating creatine kinase co... |
ORPHA:26793 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Cuppe... |
OMIM:617052 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failu... |
OMIM:615838 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
Acute Lung Injury |
|
Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Di... |
ORPHA:178320 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... |
OMIM:610628 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Episodic tachypnea, Hyperammonemia, Elevated circulating ... |
OMIM:615160 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, T... |
ORPHA:71275 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Hypocapnia, ... |
ORPHA:466650 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Gonadoblastoma |
|
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... |
ORPHA:206484 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... |
OMIM:612561 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Apnea, Hypoglycemia |
OMIM:240200 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyposp... |
ORPHA:2959 |
Perrault Syndrome 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233400 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Mitral regurgitation, Increased m... |
ORPHA:261250 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Cataract |
OMIM:103580 |
Joubert Syndrome 23 |
|
Coloboma, Sensorineural hearing impairment, Tachypnea, Apnea |
OMIM:616490 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... |
OMIM:620085 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Tetanus |
|
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,... |
ORPHA:3299 |
Propionic Acidemia |
|
Pancytopenia, Apnea, Hypoglycemia, Cerebellar hemorrhage, Tachypnea, Hyperammonemia, Anemia, Card... |
OMIM:606054 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... |
ORPHA:90654 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia... |
OMIM:619260 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615982 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, External ear malformation, Hyperphosphatemia,... |
ORPHA:2323 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Pituitary Gigantism |
|
Tall stature, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Incre... |
ORPHA:99725 |
Joubert Syndrome 30 |
|
Tachypnea, Retinal dystrophy, Apnea |
OMIM:617622 |
Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dyspnea, Ta... |
ORPHA:79126 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Joubert Syndrome 7 |
|
Central apnea, Retinal dystrophy, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... |
ORPHA:2234 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Elevated circulating creatine kinase concentration, Sudden cardiac death... |
OMIM:201475 |
Methionine Malabsorption Syndrome |
|
Tachypnea, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Cystinosis |
|
Corneal opacity, Portal hypertension, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Re... |
ORPHA:213 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Hypocalcemic seizures |
OMIM:241410 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... |
ORPHA:85282 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature |
ORPHA:3000 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Decreased DLCO, Glycosuria, Hypophosphatemia, Hypophosphatemic rickets, Emphysema |
OMIM:618913 |
Birk-Landau-Perez Syndrome |
|
Neonatal respiratory distress, Optic atrophy, Hyperkalemia, Hypertension, Increased circulating c... |
OMIM:617595 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Wheezing, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Cough... |
ORPHA:171876 |
Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Congestive heart failure, Leukocytosis, Myocarditis, Hypovole... |
ORPHA:31824 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia |
ORPHA:57 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Cataract, Dyspnea, Hyperphosphatemia, Conjunctivitis, Hypocalc... |
ORPHA:79444 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Hyperphosphatemia, Blue irides, Hearing impairment |
OMIM:101800 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity |
ORPHA:2233 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia, Rod-cone dystrophy... |
OMIM:615986 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... |
OMIM:202010 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Cataract, Band keratopathy, Dyspnea, Sensorineural hearing imp... |
ORPHA:79443 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Hypsarrhythmia |
OMIM:618856 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Senso... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Senso... |
ORPHA:529799 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea... |
ORPHA:542323 |
Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Hypovolemic... |
ORPHA:173 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Normochromic anemia, E... |
OMIM:614857 |
Joubert Syndrome 3 |
|
Central apnea, Retinal dystrophy, Episodic tachypnea, Pigmentary retinopathy, Low-set ears, Neona... |
OMIM:608629 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia |
ORPHA:199296 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
Ravine Syndrome |
|
Apnea, Abnormal auditory evoked potentials |
ORPHA:99852 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemi... |
ORPHA:348 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age |
OMIM:240900 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Episodic tachypnea, Apneic episodes in infancy, Low-set ears, Chorioret... |
ORPHA:163961 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... |
ORPHA:71529 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556037 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Hypertens... |
OMIM:602088 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... |
OMIM:300148 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Elevated circulating luteinizing hormone level, Hypoplasia of the uter... |
OMIM:618419 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Hyperkalemia |
OMIM:145260 |
Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... |
OMIM:604290 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ... |
ORPHA:79102 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615993 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556030 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Apnea, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Tachypnea, ... |
ORPHA:20 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia |
OMIM:241520 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Retinal dystrophy, Apnea, Tachypnea, Ch... |
ORPHA:2318 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... |
ORPHA:791 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... |
OMIM:616501 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
OMIM:218030 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Biotinidase Deficiency |
|
Apnea, Splenomegaly, Sensorineural hearing impairment, Tachypnea, Optic atrophy, Hyperammonemia, ... |
OMIM:253260 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... |
OMIM:221900 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615981 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Hyperkalemia, Hypertension, Astigmatism, Glycosuria,... |
ORPHA:97362 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis |
OMIM:301900 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscula... |
OMIM:127550 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... |
ORPHA:90790 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:177735 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... |
ORPHA:134 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... |
ORPHA:247768 |
Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia |
ORPHA:79242 |
Chromosome Xq26.3 Duplication Syndrome |
|
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... |
OMIM:300942 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Hyperkalemia, Anemia, Leukopenia, Intracranial hemorrhage, Aspiration... |
OMIM:617053 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Retinal cotton wool spot, Gastrointestinal hemorrhage, Pneumonia, Abnormal ret... |
ORPHA:247691 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A... |
OMIM:235200 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Sinusitis, Elevated circulating creatine kinase concent... |
ORPHA:36234 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Respiratory paralysis, Postprandial hype... |
ORPHA:681 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Type II diabetes mellitus, Displacement of the uret... |
ORPHA:2377 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension |
OMIM:264350 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity, Hypospadias |
OMIM:615985 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Tachycardia, Retrobulbar optic neuritis, Sensorineural hearing impairment, Hyp... |
OMIM:619737 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Hypophosphatemia, Anemia |
OMIM:239200 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Atresia of the external auditory canal, Neu... |
OMIM:612562 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level |
OMIM:614492 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricular outflow... |
ORPHA:860 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Orthostatic hypotension, Hypoglycemia, Hyperc... |
ORPHA:199299 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Cataract, Diabetes mellitus, Cardiac conduction abnormality, Splen... |
ORPHA:699 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... |
ORPHA:96181 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Abnormal cornea morph... |
ORPHA:411629 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Tachypnea, Telangiecta... |
OMIM:615934 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity |
ORPHA:893 |
Liddle Syndrome |
|
Hypertension, Hypokalemia, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Apnea, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose... |
ORPHA:391673 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614495 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Tachypnea, Respiratory failure, Inspiratory stridor, Ventila... |
OMIM:604320 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypoperistalsis, Tachypnea, Hypertension, Retinal infarction, Pulmonary arterial hypertension, My... |
OMIM:613834 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Alport Syndrome 3A, Autosomal Dominant |
|
Sensorineural hearing impairment, Hypertension, Hypophosphatemia, Azotemia, Anterior polar catara... |
OMIM:104200 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Decreased body weight, Abnormality of... |
ORPHA:2298 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemi... |
OMIM:615751 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
Double Outlet Right Ventricle |
|
Tachycardia, Abnormality of cartilage of external ear, Tachypnea, Heart murmur, Hypocalcemia, Pul... |
ORPHA:3426 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free f... |
ORPHA:276575 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat... |
OMIM:614643 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... |
OMIM:600955 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... |
ORPHA:427 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Tachypnea, Hyperammonemia |
ORPHA:247525 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Nuclear ca... |
OMIM:608885 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial... |
ORPHA:95409 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614496 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Large for ges... |
ORPHA:324575 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Optic atrophy, Pigmentary retinopathy, Hypertensio... |
ORPHA:90321 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Abnormal circulating calcium concentration, Increased pulmonary vascul... |
ORPHA:60025 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... |
OMIM:310600 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity |
ORPHA:177910 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Cryptorchidism, Mildly elevated creatine kinase, Delayed puberty |
ORPHA:486815 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and... |
ORPHA:79320 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Mixed hearing impairment, Cata... |
ORPHA:79345 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Increased body weight |
ORPHA:589905 |
Atypical Rett Syndrome |
|
EEG abnormality, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
Robinow Syndrome |
|
Small scrotum, Small for gestational age, External genital hypoplasia, Cryptorchidism, Micropenis... |
ORPHA:97360 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi... |
ORPHA:276608 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... |
OMIM:618278 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Type I di... |
ORPHA:276580 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Micropenis, Decreased response to growth hormone stimulation test, Ove... |
ORPHA:457240 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... |
ORPHA:293978 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615996 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Tachypnea, Hypertension, Microtia, Low-set ears, Pulmonary arterial hypertension |
OMIM:613320 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Asthma, Leukocoria, Thicke... |
ORPHA:2714 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... |
OMIM:265120 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Abnormal circulating insulin concentration, Increased... |
ORPHA:293964 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Obesity |
OMIM:615633 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Dyspnea, Hyperinsulinemia, Developmental cataract, Anemi... |
OMIM:620185 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Abnormal pattern of ... |
ORPHA:3008 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
Ppoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... |
ORPHA:97278 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... |
ORPHA:97289 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age |
ORPHA:137634 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Retinal dystrophy, Episodic tachypnea, Optic disc coloboma, Ret... |
OMIM:213300 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... |
ORPHA:495875 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria |
OMIM:616026 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Hypokalemia, Respiratory failure, Inter... |
ORPHA:330021 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Serotonin Syndrome |
|
Tachycardia, Tachypnea, Hypertension, Hypotension, Abnormality of the autonomic nervous system, M... |
ORPHA:43116 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Episodic hyperhidrosis, Decreased circulating free fatty acid level, H... |
ORPHA:276556 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... |
OMIM:227810 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Castleman Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Anemia, Decreased mean corpuscula... |
ORPHA:160 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
Clark-Baraitser syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... |
OMIM:131100 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Grfoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... |
ORPHA:97261 |
Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Splenomegaly, Hypocalcemia, Chronic rhinitis, Hypophosphatemia, Pulmonary arterial hyperte... |
ORPHA:667 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Hearing impairment |
OMIM:619074 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97283 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Thiamine-r... |
ORPHA:85138 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Retinal dystrophy, Apnea, Subretinal deposits, Tachypnea, Abno... |
ORPHA:397715 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... |
OMIM:608747 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Splenomegaly, Retinal pigment epithelial mottling, Corneal cryst... |
OMIM:219800 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... |
ORPHA:398069 |
Carpenter Syndrome |
|
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Patent duct... |
ORPHA:65759 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Tachypnea, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Tin... |
ORPHA:231625 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Episodic tachypnea, Low-set ears |
ORPHA:2872 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... |
OMIM:109120 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Joubert Syndrome 2 |
|
Central apnea, Retinal dystrophy, Episodic tachypnea, Optic disc coloboma, Low-set ears, Choriore... |
OMIM:608091 |
Arima Syndrome |
|
Retinal dystrophy, Dyspnea, Tachypnea, Optic atrophy, Hypertension, Chorioretinal coloboma, Anemia |
OMIM:243910 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Vaginal atresia |
OMIM:605231 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
Hereditary Fructose Intolerance |
|
Cataract, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations |
OMIM:188580 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Pneumonia, Myocarditis, L... |
ORPHA:544482 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypertension, Hypokalemia, Anemia |
OMIM:611489 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
ORPHA:320 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Obesity |
ORPHA:3409 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Aganglionic megacolon, Abnormal pattern of respiration, Low-set ears, ... |
ORPHA:475 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea, Chorioretinal atrophy, Hyperammonemia, Hyperornithinemia, Chorioretinal hypopigmentati... |
ORPHA:415 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoglycemia, Portal hypertension, Tachypnea, Respiratory insufficiency, Respirator... |
OMIM:613658 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Tinnitus |
ORPHA:403 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Hypertension, Hypokalemia, Palpitations, Tinnitus, Decreased circulating renin level |
ORPHA:231580 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Sensorineural ... |
ORPHA:79330 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, H... |
ORPHA:3157 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Cockayne Syndrome A |
|
Cataract, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrea... |
OMIM:216400 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97280 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypertension, Hypokalemia, Hypoc... |
OMIM:617913 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hearing impairment, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Tinnitus |
ORPHA:404 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Fanconi Renotubular Syndrome 2 |
|
Glycosuria, Hypophosphatemia |
OMIM:613388 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas... |
ORPHA:649 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Hypoammonemia, Chorio... |
ORPHA:534 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Apnea, Abnormal pinna morphology, Optic nerve hypoplasia, Hypoglycemia, Low-se... |
OMIM:609069 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Hypertension, Hypokalemia, Tinnitus, Decreased circulating renin level |
ORPHA:231632 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Increased circulating renin ... |
OMIM:607364 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Obesity |
OMIM:245800 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... |
OMIM:615830 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Type II d... |
ORPHA:96263 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Retinal coloboma, Rod-cone dystrophy, Neonatal breathing dysre... |
OMIM:610188 |
Noonan Syndrome 8 |
|
Cryptorchidism, Patent ductus arteriosus, Failure to thrive, Large for gestational age |
OMIM:615355 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... |
ORPHA:263455 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Mildly elevated creatine kinase, Large for gestational age |
ORPHA:169189 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hearing impairment, Hypophosphatemia |
OMIM:156400 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Short Syndrome |
|
Rieger anomaly, Cataract, Sensorineural hearing impairment, Insulin resistance, Insulin-resistant... |
OMIM:269880 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Tinnitus |
ORPHA:251274 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity |
OMIM:618857 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... |
ORPHA:813 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tachycardia |
OMIM:613239 |
Macrocephaly/Autism Syndrome |
|
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Overgrowth |
OMIM:605309 |
Gitelman Syndrome |
|
Respiratory distress, Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Hypocalcemi... |
ORPHA:358 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Tachypnea, Hypoxemia... |
ORPHA:555874 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Obesity, Proportionate tall stature, Neuroendocrine neo... |
ORPHA:404443 |
Prader-Willi Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:176270 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Second degree atrioventricular blo... |
ORPHA:369929 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
Opsismodysplasia |
|
Respiratory insufficiency, Posteriorly rotated ears, Low-set ears, Hypophosphatemia |
OMIM:258480 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Obesity, Increased circulating ACTH level, Hypokalemia, Abdominal obesity, Oli... |
OMIM:219090 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... |
ORPHA:909 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Obesity |
OMIM:616629 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine... |
ORPHA:99826 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypoventilation, Central hypoventilation, Hyperlipidemia, Sensorineural hearing imp... |
ORPHA:293987 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Dent Disease 1 |
|
Glycosuria, Hypophosphatemia |
OMIM:300009 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... |
ORPHA:3337 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Dend Syndrome |
|
Hyperglycemia, Thickened ears, Elevated hemoglobin A1c, Hypsarrhythmia |
ORPHA:79134 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Bilateral sensorineural hearing impairment |
OMIM:602722 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... |
ORPHA:264580 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Cln3 Disease |
|
Increased circulating androgen concentration |
ORPHA:228346 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Hypokalemia, Second degree atrioventricular block, Pulmonary arterial hypertension,... |
OMIM:615474 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cataract, Hypoglycemia, EEG abnormality, Recurrent hypoglycemia, Hyperglycemia,... |
OMIM:124000 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Irregular... |
ORPHA:79240 |
Goodpasture Syndrome |
|
Crackles, Cough, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Exertional dyspnea, I... |
OMIM:233450 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Dent Disease |
|
Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria |
ORPHA:1652 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis |
OMIM:619471 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricemia |
OMIM:300322 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... |
OMIM:613095 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag... |
OMIM:609136 |
East Syndrome |
|
Hypokalemia, Sensorineural hearing impairment, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Mend Syndrome |
|
Cataract, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole... |
ORPHA:401973 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Increased body weight |
OMIM:300860 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Raine Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Protruding ear, Lo... |
OMIM:259775 |
Donohue Syndrome |
|
Hyperinsulinemia, Fasting hypoglycemia, Low-set ears, Postprandial hyperglycemia, Hyperglycemia, ... |
OMIM:246200 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Sotos Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Increased body weight, Overgrowth, Tall stature |
OMIM:117550 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Neonatal asphyxia, Hypochromic microcytic anemia, Postprandial hyperglycemia... |
ORPHA:440713 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Tachypnea, Hyperammonemia, Hypertension, Mitral regurgitation, Low-set ears, Hyperg... |
OMIM:220111 |
Osteootohepatoenteric Syndrome |
|
Asthma, Hypokalemia, Increased serum bile acid concentration, Anemia, Hearing impairment |
OMIM:619377 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... |
OMIM:263800 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Obesity, Breast aplasia, Hypoplastic ni... |
ORPHA:3138 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Truncal ob... |
OMIM:209900 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Glycosuria, Hyperglycemia, Retinopathy... |
ORPHA:99885 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Hypogonadism, Vaginal atresia, Hydrometrocolpos |
OMIM:615989 |
Somatomammotropinoma |
|
Tall stature, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulatin... |
ORPHA:314769 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Sensorineural hearing impairment, Hypertension, Hypokalemia, Increased circulating renin level, H... |
OMIM:612780 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Low-... |
OMIM:170390 |
Orofaciodigital Syndrome Type 6 |
|
Conductive hearing impairment, Apnea, Episodic tachypnea, Low-set, posteriorly rotated ears |
ORPHA:2754 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
Wilson Disease |
|
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle |
ORPHA:905 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Tachypnea, Central retinal vessel vascular tortuosity, Protruding ear, Conductive hearing ... |
ORPHA:2751 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Hypercholesterolemia, Overweight, Obesity, Cholelithiasis, Pancreatitis |
ORPHA:69663 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:881 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Hypertriglyceridemia, Telangiectasia of the skin, Diabetes m... |
ORPHA:79474 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Diabetes mellitus, Hypertriglyceride... |
ORPHA:412 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Acromelic Frontonasal Dysostosis |
|
Upper airway obstruction, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Parathyroid Carcinoma |
|
Shortened QT interval, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Double Outlet Left Ventricle |
|
Tachypnea, Systolic heart murmur, Abnormal right ventricular function |
ORPHA:3427 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Cryptorchidism, Disproportionate tall stature, Abnormality of the Leydig cells, Test... |
ORPHA:3063 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia |
OMIM:618426 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Posteriorly rotated ears, Asymmetry ... |
OMIM:300166 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Bicarbonaturia, Hypovolemia, Coloboma, Hypokalemia, Glycosuria |
ORPHA:47159 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Protruding ear, Hypokalemia, Increased circulating renin le... |
ORPHA:508 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Uni... |
OMIM:619539 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Tracheomalacia, Congestive... |
ORPHA:444077 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia |
OMIM:613090 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impairment, Renal hypophosph... |
ORPHA:289176 |
Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:3455 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Cholesterol gallstones, H... |
ORPHA:209902 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism |
OMIM:614231 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
X-Linked Hypophosphatemia |
|
Sensorineural hearing impairment, Hypophosphatemia |
ORPHA:89936 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Protruding ear, Hypochloremia, Hypertension, Hypokalemia, Increased circulating ren... |
ORPHA:89938 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Hypoplasia of the ... |
ORPHA:3384 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypospadias, Small for gestational age, Cryptorchidism, Long penis, Hypopla... |
OMIM:264090 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:267000 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circula... |
ORPHA:90041 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration |
ORPHA:2976 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ... |
OMIM:601678 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairm... |
ORPHA:18 |
Pachydermoperiostosis |
|
Elevated circulating growth hormone concentration, Hyperhidrosis |
ORPHA:2796 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... |
OMIM:241200 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Obe... |
OMIM:181450 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia |
OMIM:602522 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Reduced thyroxi... |
ORPHA:79318 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Pulmonic stenosis, Glycosuria |
OMIM:600001 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Telangiectasia of the skin, Transient ischemic attack, Abnormal pupil morphology, Ap... |
ORPHA:286 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |