TaoMedAI/RareMedData huggingface dataset:
Gene: CYP11B1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Polydipsia (HP:0001959)
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: Short stature (HP:0004322)
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: Short stature (HP:0004322)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Accelerated skeletal maturation (HP:0005616)
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: Caesarean section (HP:0011410)
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: Gynecomastia (HP:0000771)
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: Childhood onset (HP:0011463)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Increased circulating ACTH level (HP:0003154)
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 aldosterone concentration (HP:0000859)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Irregular menstruation (HP:0000858)
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: Adrenogenital syndrome (HP:0000840)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Adrenogenital syndrome (HP:0000840)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Precocious puberty (HP:0000826)
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: Hypertension (HP:0000822)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Hypertension (HP:0000822)
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: Hypertension (HP:0000822)
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: Hypertension (HP:0000822)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B1
Phenotype: Abnormal circulating renin concentration (HP:0040084)
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: Premature thelarche (HP:0010314)
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: Hyperpigmentation of the skin (HP:0000953)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
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: Alopecia (HP:0001596)
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 serum testosterone level (HP:0030088)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Increased serum testosterone level (HP:0030088)
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: Growth abnormality (HP:0001507)
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: Hypokalemia (HP:0002900)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Gene: CYP11B1
Phenotype: Hypokalemia (HP:0002900)
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: Hypokalemia (HP:0002900)
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: Tinnitus (HP:0000360)
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: Premature pubarche (HP:0012411)
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: Premature adrenarche (HP:0012412)
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: Epistaxis (HP:0000421)
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: Increased circulating androgen concentration (HP:0030348)
Associated disease: CYP11B1 deficiency; CAH due to 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
Gene: CYP11B2
Phenotype: Increased circulating 18-hydroxycortisone level (HP:0020200)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Increased circulating corticosterone level (HP:0032362)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
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: CYP11B2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
Phenotype: Hypotension (HP:0002615)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Hypotension (HP:0002615)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Elevated serum 11-deoxycortisol (HP:0025436)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Abnormal circulating corticosterone level (HP:0012112)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
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: CYP11B2
Phenotype: Vomiting (HP:0002013)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Vomiting (HP:0002013)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
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: CYP11B2
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: CYP11B2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
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: CYP11B2
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
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: CYP11B2
Phenotype: Adult onset (HP:0003581)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
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: CYP11B2
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: CYP11B2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
Phenotype: Renal sodium wasting (HP:0012606)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Dehydration (HP:0001944)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Dehydration (HP:0001944)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Dehydration (HP:0001944)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Polydipsia (HP:0001959)
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: CYP11B2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Caesarean section (HP:0011410)
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: CYP11B2
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Adrenogenital syndrome (HP:0000840)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
Phenotype: Abnormal external genitalia morphology (HP:0000811)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Hypertension (HP:0000822)
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: CYP11B2
Phenotype: Hypertension (HP:0000822)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Gene: CYP11B2
Phenotype: Abnormal circulating renin concentration (HP:0040084)
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: CYP11B2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Growth delay (HP:0001510)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Growth delay (HP:0001510)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Gene: CYP11B2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Gene: CYP11B2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Severe aldosterone synthase deficiency; Early-onset familial hyperreninemic hypoaldosteronism; Early-onset familial hypoaldosteronism (ORPHA:556030)
Gene: CYP11B2
Phenotype: Hypokalemia (HP:0002900)
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: CYP11B2
Phenotype: Tinnitus (HP:0000360)
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: CYP11B2
Phenotype: Epistaxis (HP:0000421)
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: CYP17A1
Phenotype: Absent pubic hair (HP:0002555)
Associated disease: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; CAH due to 17-alpha-hydroxylase deficiency; Combined 17-hydroxylase/17,20-lyase deficiency (ORPHA:90793)
Gene: CYP17A1
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYP17A1
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYP17A1
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; CAH due to 17-alpha-hydroxylase deficiency; Combined 17-hydroxylase/17,20-lyase deficiency (ORPHA:90793)
Gene: CYP17A1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYP17A1
Phenotype: Increased circulating corticosterone level (HP:0032362)
Associated disease: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; CAH due to 17-alpha-hydroxylase deficiency; Combined 17-hydroxylase/17,20-lyase deficiency (ORPHA:90793)
Gene: CYP17A1
Phenotype: Abnormal response to ACTH stimulation test (HP:0031074)
Associated disease: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; CAH due to 17-alpha-hydroxylase deficiency; Combined 17-hydroxylase/17,20-lyase deficiency (ORPHA:90793)
Gene: CYP17A1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; CAH due to 17-alpha-hydroxylase deficiency; Combined 17-hydroxylase/17,20-lyase deficiency (ORPHA:90793)
Gene: CYP17A1
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYP17A1
Phenotype: Increased urinary 11-deoxycorticosterone level (HP:0032330)
Associated disease: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; CAH due to 17-alpha-hydroxylase deficiency; Combined 17-hydroxylase/17,20-lyase deficiency (ORPHA:90793)
Gene: CYP17A1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)
Gene: CYP17A1
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYP17A1
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)