TaoMedAI/RareMedData huggingface dataset:
Gene: CYP11A1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Abnormality of the Leydig cells (HP:0010789)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Abnormality of the Leydig cells (HP:0010789)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Dehydration (HP:0001944)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Dehydration (HP:0001944)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Acidosis (HP:0001941)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Acidosis (HP:0001941)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Abnormal circulating cholesterol concentration (HP:0003107)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Abnormal circulating cholesterol concentration (HP:0003107)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Midshaft hypospadias (HP:0012854)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Midshaft hypospadias (HP:0012854)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE (OMIM:613743)
Gene: CYP11A1
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE (OMIM:613743)
Gene: CYP11A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE (OMIM:613743)
Gene: CYP11A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Low maternal circulating estriol concentration (HP:0008073)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Low maternal circulating estriol concentration (HP:0008073)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Sex reversal (HP:0012245)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Sex reversal (HP:0012245)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Sex reversal (HP:0012245)
Associated disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE (OMIM:613743)
Gene: CYP11A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Premature birth (HP:0001622)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Premature birth (HP:0001622)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Hypovolemia (HP:0011106)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Abnormal urine potassium concentration (HP:0012598)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Abnormal urine potassium concentration (HP:0012598)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Decreased circulating androgen concentration (HP:0030349)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Decreased circulating androgen concentration (HP:0030349)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Induced vaginal delivery (HP:0030369)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Induced vaginal delivery (HP:0030369)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11B1
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Increased urinary 11-deoxycorticosterone level (HP:0032330)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Ambiguous genitalia, female (HP:0000061)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Ambiguous genitalia, female (HP:0000061)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Long penis (HP:0000040)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Long penis (HP:0000040)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: FH-I; FH1; GRA; Glucocorticoid-remediable aldosteronism; Dexamethasone-sensitive hypertension; Familial hyperaldosteronism type I; Familial hyperaldosteronism type 1; Glucocorticoid-sensitive hypertension (ORPHA:403)
Gene: CYP11B1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Testicular adrenal rest tumor (HP:0025451)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Elevated serum 11-deoxycortisol (HP:0025436)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Elevated circulating 17-hydroxyprogesterone concentration (HP:0031213)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Nausea (HP:0002018)
Associated disease: FH-I; FH1; GRA; Glucocorticoid-remediable aldosteronism; Dexamethasone-sensitive hypertension; Familial hyperaldosteronism type I; Familial hyperaldosteronism type 1; Glucocorticoid-sensitive hypertension (ORPHA:403)
Gene: CYP11B1
Phenotype: Secretory adrenocortical adenoma (HP:0011746)
Associated disease: FH-I; FH1; GRA; Glucocorticoid-remediable aldosteronism; Dexamethasone-sensitive hypertension; Familial hyperaldosteronism type I; Familial hyperaldosteronism type 1; Glucocorticoid-sensitive hypertension (ORPHA:403)
Gene: CYP11B1
Phenotype: Dexamethasone-suppressible primary hyperaldosteronism (HP:0011739)
Associated disease: FH-I; FH1; GRA; Glucocorticoid-remediable aldosteronism; Dexamethasone-sensitive hypertension; Familial hyperaldosteronism type I; Familial hyperaldosteronism type 1; Glucocorticoid-sensitive hypertension (ORPHA:403)
Gene: CYP11B1
Phenotype: Precocious puberty in males (HP:0008185)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: FH-I; FH1; GRA; Glucocorticoid-remediable aldosteronism; Dexamethasone-sensitive hypertension; Familial hyperaldosteronism type I; Familial hyperaldosteronism type 1; Glucocorticoid-sensitive hypertension (ORPHA:403)
Gene: CYP11B1
Phenotype: Congenital adrenal hyperplasia (HP:0008258)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Isosexual precocious puberty (HP:0008236)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: FH-I; FH1; GRA; Glucocorticoid-remediable aldosteronism; Dexamethasone-sensitive hypertension; Familial hyperaldosteronism type I; Familial hyperaldosteronism type 1; Glucocorticoid-sensitive hypertension (ORPHA:403)
Gene: CYP11B1
Phenotype: Adult onset (HP:0003581)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Acne (HP:0001061)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Hirsutism (HP:0001007)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B1
Phenotype: Headache (HP:0002315)
Associated disease: FH-I; FH1; GRA; Glucocorticoid-remediable aldosteronism; Dexamethasone-sensitive hypertension; Familial hyperaldosteronism type I; Familial hyperaldosteronism type 1; Glucocorticoid-sensitive hypertension (ORPHA:403)
Gene: CYP11B1
Phenotype: Preeclampsia (HP:0100602)
Associated disease: FH-I; FH1; GRA; Glucocorticoid-remediable aldosteronism; Dexamethasone-sensitive hypertension; Familial hyperaldosteronism type I; Familial hyperaldosteronism type 1; Glucocorticoid-sensitive hypertension (ORPHA:403)
Gene: CYP11B1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)