Polycystic Ovary Syndrome 1 |
|
Hirsutism, Enlarged polycystic ovaries |
OMIM:184700 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Hirsutism, Elevated circulating growth hormone concentration, Enlarged kidney, Polycystic ovaries... |
ORPHA:90301 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Hirsutism, Gonadal dysgenesis with female appearance, male, Female extern... |
ORPHA:206484 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Precocious puberty, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
Rabson-Mendenhall Syndrome |
|
Hypertrichosis, Precocious puberty, Hypokalemia, Hirsutism, Low anterior hairline, Premature gray... |
ORPHA:769 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Insulin-Resistance Syndrome Type B |
|
Hirsutism, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentratio... |
ORPHA:2298 |
Ovarian Hyperstimulation Syndrome |
|
Hirsutism, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enla... |
ORPHA:64739 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Hirsutism, Abnormal circulating lipid concentration |
OMIM:608709 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Sacral dimple |
ORPHA:1643 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... |
ORPHA:90796 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
Opitz Gbbb Syndrome |
|
Vertebral segmentation defect, Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, S... |
ORPHA:2745 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... |
ORPHA:785 |
Leprechaunism |
|
Hypertrichosis, Hypokalemia, Hepatomegaly, Facial hypertrichosis, Increased circulating renin lev... |
ORPHA:508 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Melanonychia, Cervix cancer |
ORPHA:2869 |
Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hirsutism, Ambiguous genitalia, female, Adrenocorticotropic hormone excess, Ambiguous genitalia, ... |
ORPHA:90791 |
Aromatase Deficiency |
|
Generalized hirsutism, Ambiguous genitalia, female, Hyperlipidemia, Hypergonadotropic hypogonadis... |
ORPHA:91 |
Satoyoshi Syndrome |
|
Alopecia universalis, Abnormal hair morphology, Hypoplasia of the uterus, Hypoplasia of the ovary... |
ORPHA:3130 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst |
ORPHA:397685 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hirsutism, Hypoplasia of the uterus, Thick eyebrow, Facial hirsutism,... |
ORPHA:247768 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hypergonadotropic hypogonadism, Hyperlordosis, Decreased testicular size, Polycystic ov... |
ORPHA:3085 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... |
ORPHA:261529 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Alopecia, Streak ovary |
OMIM:241090 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Abnormal hair quantity, Cognitive impairment, Abnormal penis morphology, Alop... |
ORPHA:457059 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries, Fine hair |
ORPHA:2228 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hirsutism, Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, ... |
ORPHA:95699 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... |
ORPHA:168558 |
Ovarian Fibrothecoma |
|
Hirsutism, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma, Abnormality o... |
ORPHA:314478 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... |
OMIM:228300 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... |
ORPHA:289548 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Scoliosis, Hyperkalemia, Decreased testicular size, ... |
OMIM:617053 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Hirsutism, Abnormality of the urethra, Abnormality of the ovary |
ORPHA:2795 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Hepatomegaly |
ORPHA:79084 |
Cowden Syndrome |
|
Kyphosis, Cognitive impairment, Abnormal penis morphology, Endometrial carcinoma, Scoliosis, Aden... |
ORPHA:201 |
Ovarian Fibroma |
|
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Ataxia-Telangiectasia |
|
Cognitive impairment, Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, Ab... |
ORPHA:100 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hypertriglyceridemia |
ORPHA:280356 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hyperkalemia, Splenomegaly |
OMIM:608885 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Hyperuricemia |
ORPHA:543 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, Short neck, Scoliosis, Polycystic ovaries, High anterior hairline, Macroorchidism |
ORPHA:284180 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... |
ORPHA:90793 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Distal Monosomy 10P |
|
Polycystic ovaries, Cryptorchidism, Short neck, Hypoplasia of penis |
ORPHA:1580 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia |
ORPHA:682 |
Preeclampsia |
|
Polycystic ovaries, Elevated circulating creatinine concentration |
ORPHA:275555 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney |
OMIM:602088 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hirsutism, Ambiguous genitalia, female, Precocious puberty, Hypokalemia, Alopecia, Premature thel... |
ORPHA:90795 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Testicular adrenal rest tumor, Hyponatremia, Azoosperm... |
ORPHA:361 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hypertrichosis, Hepatomegaly, Low anterior hairline, Increased C-p... |
ORPHA:528 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Kyphosis, Mental deterioration |
OMIM:610475 |
Akt2-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly |
ORPHA:79085 |
Birk-Landau-Perez Syndrome |
|
Long eyelashes, Hyperkalemia, Increased circulating creatine kinase MB isoform, Camptocormia |
OMIM:617595 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hirsutism, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycyst... |
OMIM:604367 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Abs... |
OMIM:614841 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Hirsutism, ... |
ORPHA:90794 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... |
ORPHA:435660 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypokalemia, Hypoplasia of the vagina, Lon... |
OMIM:202010 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... |
ORPHA:90797 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Goiter, Hypokalemia |
OMIM:613239 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
Cidec-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly |
ORPHA:435651 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Central diabetes insipidus, Hypokalemia |
OMIM:304900 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Sparse hair |
OMIM:268020 |
Proteus Syndrome |
|
Kyphosis, Generalized hirsutism, Ovarian neoplasm, Splenomegaly, Scoliosis, Testicular neoplasm, ... |
ORPHA:744 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia, Ovarian neoplasm |
ORPHA:231632 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Cowden Syndrome 6 |
|
Hydrocele testis, Kyphosis, Ovarian cyst, Scoliosis, Varicocele, Goiter |
OMIM:615109 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Cowden Syndrome 5 |
|
Hydrocele testis, Kyphosis, Ovarian cyst, Scoliosis, Goiter |
OMIM:615108 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hypokalemia |
OMIM:188580 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
Donohue Syndrome |
|
Hypertrichosis, Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy |
OMIM:246200 |
Bangstad Syndrome |
|
Polycystic ovaries, Abnormality of the parathyroid gland, Abnormal testis morphology |
ORPHA:1227 |
Cowden Syndrome 1 |
|
Hydrocele testis, Kyphosis, Ovarian cyst, Scoliosis, Varicocele, Goiter, Ovarian carcinoma |
OMIM:158350 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Polycystic ovaries |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Generalized hirsutism, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Polycysti... |
ORPHA:79083 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Abnormal hair pattern, Gonadal dysgenesis |
ORPHA:1770 |
Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... |
ORPHA:335 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Hypokalemia, Hirsutism, Biconcave vertebral bodies, Vertebral compre... |
OMIM:219090 |
Addison Disease |
|
Hypoparathyroidism, Sparse axillary hair, Increased circulating renin level, Hyponatremia, Hyperu... |
ORPHA:85138 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Abnormal eyebrow morphology, Lumbar hyperlordosis, Cryptorchidism, Small pituitary glan... |
ORPHA:2232 |
Mccune-Albright Syndrome |
|
Precocious puberty, Elevated circulating growth hormone concentration, Hypophosphatemia, Ovarian ... |
ORPHA:562 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Hepatomegaly, Hyperbilirubinemia, Ovarian cyst, Abnormality of th... |
ORPHA:400 |
Acute Adrenal Insufficiency |
|
Sparse axillary hair, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcem... |
ORPHA:95409 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Hypoplasminogenemia |
|
Decreased level of plasminogen, Abnormal fallopian tube morphology, Abnormality of the ovary, Cer... |
ORPHA:722 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst |
ORPHA:327 |
Lysosomal Acid Lipase Deficiency |
|
Cognitive impairment, Hepatosplenomegaly, Hypertriglyceridemia, Psychomotor deterioration, Hypona... |
ORPHA:275761 |
Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... |
ORPHA:79102 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Elevated circulating growth hormone concentration, Hypophosphatemi... |
ORPHA:249 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hirsutism, Nodular goiter, Premature thelarche, Abnormal form of the vertebral bodies, Polycystic... |
ORPHA:371428 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Nail dystrophy |
OMIM:175500 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Hypokalemia |
ORPHA:404 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries, Hirsutism, High anterior hairline |
OMIM:616831 |
Primary Lipodystrophy |
|
Polycystic ovaries, Hyperlipidemia, Splenomegaly |
ORPHA:90970 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypokalemia |
ORPHA:403 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Left ventricular hypertrophy, Hypokalemia |
ORPHA:251274 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hepatomegaly, Abnormal circulating lipid concentration, Hypertriglyceridem... |
ORPHA:79086 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Aplasia of the ovary, Elevated circulating follic... |
OMIM:614324 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Alopecia, Abnormal blood ion concent... |
ORPHA:31824 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hypokalemia |
OMIM:611590 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Scoliosis, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypertrichosis, Sparse eyebrow, Ovarian cyst, Scoliosis, Unicornuate uterus, Urethral stenosis, N... |
OMIM:614527 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hirsutism, Precocious puberty, Hypokalemia, Frontal balding, Oligospermia, Adrenal hyperplasia, A... |
ORPHA:786 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hirsutism, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial ps... |
OMIM:151660 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceride... |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceride... |
ORPHA:370 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia, Back pain |
ORPHA:340 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma |
ORPHA:454840 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hepatomegaly, Hypokalemia |
OMIM:613095 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Generalized hirsutism, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Hyper... |
ORPHA:280365 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceride... |
ORPHA:264580 |
Infantile Systemic Hyalinosis |
|
Polycystic ovaries, Short neck |
ORPHA:2176 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
Bardet-Biedl Syndrome 1 |
|
Hirsutism, Micropenis, Left ventricular hypertrophy, Decreased testicular size, Hypogonadism, Vag... |
OMIM:209900 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Peutz-Jeghers Syndrome |
|
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas |
OMIM:175200 |
Cystinosis |
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Hypophosphatemia, Hypokalemia |
ORPHA:213 |
East Syndrome |
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Hypomagnesemia, Hypokalemia, Increased circulating renin level |
ORPHA:199343 |
Fanconi-Bickel Syndrome |
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Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Infection-Related Hemolytic Uremic Syndrome |
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Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Adrenal hyperplasia, Hypokalemia |
ORPHA:369929 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
Helix Syndrome |
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Hyperparathyroidism, Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Carney Complex |
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Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... |
ORPHA:1359 |
Romano-Ward Syndrome |
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Hypokalemia |
ORPHA:101016 |
Apparent Mineralocorticoid Excess |
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Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hirsutism, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Labial hypertrophy, Clitoral hypertr... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hirsutism, Hepatomegaly, Splenomegaly, Elevated hemoglobin A1c, Hypertriglyceridemia, Labial hype... |
OMIM:269700 |
Cholera |
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Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Chordee, Labial hypoplasia, Vesicovaginal fistula, Bifid scrotum, Micropenis, Hypospadias, Hemive... |
OMIM:201750 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
Myhre Syndrome |
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Thick eyebrow, Sparse hair, Platyspondyly, Enlarged vertebral pedicles, Short neck, Fine hair, Cr... |
OMIM:139210 |
Adrenocortical Carcinoma |
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Adrenocorticotropic hormone deficiency, Hypokalemia, Hypertrichosis |
ORPHA:1501 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperlipidemia, Hepatomegaly, Cognitive impairment, Enlarged kidney, Hypertriglyceridemia, Hyperu... |
ORPHA:79259 |
Infantile Nephropathic Cystinosis |
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Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Cognitive impairment |
ORPHA:411629 |
Nelson Syndrome |
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Adrenocorticotropic hormone excess, Hypokalemia, Pituitary corticotropic cell adenoma, Anterior h... |
ORPHA:199244 |
Cystinosis, Nephropathic |
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Hypophosphatemic rickets, Hypomagnesemia, Hepatomegaly, Hypophosphatemia, Hypokalemia, Splenomega... |
OMIM:219800 |
Vipoma |
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Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone concentration, H... |
ORPHA:97282 |
Orofaciodigital Syndrome I |
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Sparse hair, Alopecia, Ovarian cyst, Dry hair, Pancreatic cysts |
OMIM:311200 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Hypoplasia of the uterus, Thick eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Elevated c... |
ORPHA:572333 |
Tsh-Secreting Pituitary Adenoma |
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Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Enlarged pituitary gl... |
ORPHA:91347 |
Juvenile Nephropathic Cystinosis |
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Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Hypomagnesemia, Hypokalemia, Increased circulating renin level |
OMIM:612780 |
Bartter Syndrome, Type 3 |
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Hypokalemia, Hyperchloriduria, Increased circulating renin level |
OMIM:607364 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Hypokalemia, Scoliosis |
OMIM:170390 |
Mercury Poisoning |
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Hypokalemia |
ORPHA:330021 |
Bartter Syndrome, Type 1, Antenatal |
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Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
Oculocerebrorenal Syndrome Of Lowe |
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Sparse scalp hair, Kyphosis, Hypophosphatemia, Hypokalemia, Hypoammonemia, Platyspondyly, Scolios... |
ORPHA:534 |
Digeorge Syndrome |
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Hydrocele testis, Cholelithiasis, Hypocalcemia, Splenomegaly, Ovarian cyst, Intervertebral disc d... |
OMIM:188400 |
Pearson Syndrome |
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Hypoparathyroidism, Hypomagnesemia, Hypophosphatemia, Hepatomegaly, Decreased response to growth ... |
ORPHA:699 |
Osteootohepatoenteric Syndrome |
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Hypokalemia, Increased serum bile acid concentration |
OMIM:619377 |
Gitelman Syndrome |
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Hypomagnesemia, Hypokalemia, Increased circulating renin level |
OMIM:263800 |
Osteogenesis Imperfecta |
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Kyphosis, Enlarged vertebral pedicles, Biconcave vertebral bodies, Scoliosis, Abnormal form of th... |
ORPHA:666 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Kyphosis, Hyperlipidemia, Alopecia, Short neck, Scoliosis, Gonadoblastoma, Increased circulating ... |
ORPHA:99413 |
Turner Syndrome |
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Kyphosis, Hyperlipidemia, Alopecia, Short neck, Scoliosis, Gonadoblastoma, Increased circulating ... |
ORPHA:881 |
Mosaic Monosomy X |
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Kyphosis, Hyperlipidemia, Alopecia, Short neck, Scoliosis, Gonadoblastoma, Increased circulating ... |
ORPHA:99228 |
Monosomy X |
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Kyphosis, Hyperlipidemia, Alopecia, Short neck, Scoliosis, Gonadoblastoma, Increased circulating ... |
ORPHA:99226 |
Williams Syndrome |
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Cholelithiasis, Vertebral segmentation defect, Kyphosis, Precocious puberty, Hypoplasia of penis,... |
ORPHA:904 |
Histiocytoid Cardiomyopathy |
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Polycystic ovaries, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Hepatocellular Carcinoma |
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Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia |
ORPHA:88673 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... |
ORPHA:3337 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... |
ORPHA:90038 |
Marburg Hemorrhagic Fever |
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Hypokalemia, Orchitis, Back pain, Hyperammonemia, Elevated circulating creatine kinase concentrat... |
ORPHA:99826 |
Juvenile Polyposis Syndrome |
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Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Bartter Syndrome Type 4 |
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Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia |
ORPHA:89938 |
Gitelman Syndrome |
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Neoplasm of the pancreas, Hypomagnesemia, Hypokalemia, Hypocalcemia, Parathyroid adenoma, Hyperma... |
ORPHA:358 |
Bartter Syndrome, Type 2, Antenatal |
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Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... |
OMIM:241200 |
Immunodeficiency 87 And Autoimmunity |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia, Hepatom... |
OMIM:619573 |
Scorpion Envenomation |
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Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... |
ORPHA:466677 |
Distal Renal Tubular Acidosis |
|
Hypokalemia |
ORPHA:18 |
Vascular Ehlers-Danlos Syndrome |
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Uterine prolapse, Hypokalemia, Abnormality of hair texture, Cystocele, Uterine rupture, Cognitive... |
ORPHA:286 |
Alström Syndrome |
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Hepatomegaly, Hypergonadotropic hypogonadism, Hyoplasia of the Leydig cells, Testicular fibrosis,... |
ORPHA:64 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Bicarbonaturia |
ORPHA:47159 |