TaoMedAI/RareMedData huggingface dataset:
Gene: CYP17A1
Phenotype: Male pseudohermaphroditism (HP:0000037)
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: Micropenis (HP:0000054)
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: Micropenis (HP:0000054)
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: Bifid scrotum (HP:0000048)
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: Hypospadias (HP:0000047)
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: Hypospadias (HP:0000047)
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, male (HP:0000033)
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: Ambiguous genitalia, male (HP:0000033)
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: Male hypogonadism (HP:0000026)
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: Cryptorchidism (HP:0000028)
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: Hypoplasia of the uterus (HP:0000013)
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: Autosomal recessive inheritance (HP:0000007)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)
Gene: CYP17A1
Phenotype: Decreased fertility (HP:0000144)
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: Decreased fertility (HP:0000144)
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: Ovarian cyst (HP:0000138)
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: Aplasia of the uterus (HP:0000151)
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: Polycystic ovaries (HP:0000147)
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: Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)
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 circulating corticosterone level (HP:0012112)
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 progesterone (HP:0031216)
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: Delayed skeletal maturation (HP:0002750)
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: Delayed skeletal maturation (HP:0002750)
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 circulating renin concentration (HP:0003351)
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: Blind vagina (HP:0040314)
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: Muscle spasm (HP:0003394)
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: Adrenocorticotropic hormone excess (HP:0011749)
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: Primary gonadal insufficiency (HP:0008193)
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: Absence of pubertal development (HP:0008197)
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: Absence of secondary sex characteristics (HP:0008187)
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: Absence of secondary sex characteristics (HP:0008187)
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 circulating cortisol level (HP:0008163)
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: Precocious puberty in females (HP:0010465)
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: Congenital adrenal hyperplasia (HP:0008258)
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: Elevated circulating follicle stimulating hormone level (HP:0008232)
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: Elevated circulating follicle stimulating hormone level (HP:0008232)
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: Adrenal hyperplasia (HP:0008221)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)
Gene: CYP17A1
Phenotype: Decreased serum estradiol (HP:0008214)
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: Primary adrenal insufficiency (HP:0008207)
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: Absent axillary hair (HP:0002221)
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: Sparse axillary hair (HP:0002215)
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: Sparse body hair (HP:0002231)
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: Sparse pubic hair (HP:0002225)
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: Elevated circulating luteinizing hormone level (HP:0011969)
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: Elevated circulating luteinizing hormone level (HP:0011969)
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: Dysmenorrhea (HP:0100607)
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: Hypokalemic alkalosis (HP:0001949)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)
Gene: CYP17A1
Phenotype: Short stature (HP:0004322)
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: Decreased circulating aldosterone concentration (HP:0004319)
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: Reduced bone mineral density (HP:0004349)
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: Gynecomastia (HP:0000771)
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: Gynecomastia (HP:0000771)
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: Gynecomastia (HP:0000771)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)
Gene: CYP17A1
Phenotype: Primary amenorrhea (HP:0000786)
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: Primary amenorrhea (HP:0000786)
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: Primary amenorrhea (HP:0000786)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)
Gene: CYP17A1
Phenotype: Irregular menstruation (HP:0000858)
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 fertility in females (HP:0000868)
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 gonadotropin level (HP:0000837)
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: Adrenogenital syndrome (HP:0000840)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)
Gene: CYP17A1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
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: Hypertension (HP:0000822)
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: Hypertension (HP:0000822)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)
Gene: CYP17A1
Phenotype: Delayed puberty (HP:0000823)
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: Delayed puberty (HP:0000823)
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: Male infertility (HP:0003251)
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: Osteoporosis (HP:0000939)
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: Decreased serum testosterone concentration (HP:0040171)
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: Decreased serum testosterone concentration (HP:0040171)
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 sex determination (HP:0012244)
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: Failure to thrive (HP:0001508)
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: Failure to thrive (HP:0001508)
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: Hypokalemia (HP:0002900)
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 circulating androgen concentration (HP:0030349)
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: CYP19A1
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Tall stature (HP:0000098)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Ambiguous genitalia, female (HP:0000061)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AROMATASE DEFICIENCY (OMIM:613546)
Gene: CYP19A1
Phenotype: Bone pain (HP:0002653)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: AROMATASE DEFICIENCY (OMIM:613546)
Gene: CYP19A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: AROMATASE DEFICIENCY (OMIM:613546)
Gene: CYP19A1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Macroorchidism, postpubertal (HP:0002050)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Female pseudohermaphroditism (HP:0010458)
Associated disease: AROMATASE DEFICIENCY (OMIM:613546)
Gene: CYP19A1
Phenotype: Female pseudohermaphroditism (HP:0010458)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Female infertility (HP:0008222)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: AROMATASE DEFICIENCY (OMIM:613546)
Gene: CYP19A1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: AROMATASE DEFICIENCY (OMIM:613546)
Gene: CYP19A1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: AROMATASE DEFICIENCY (OMIM:613546)
Gene: CYP19A1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Male infertility (HP:0003251)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Maternal virilization in pregnancy (HP:0008072)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Growth delay (HP:0001510)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP19A1
Phenotype: Obesity (HP:0001513)
Associated disease: Aromatase deficiency; Congenital estrogen deficiency (ORPHA:91)
Gene: CYP21A2
Phenotype: Elevated circulating 21-deoxycortisol concentration (HP:6000516)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Hypospadias (HP:0000047)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Fever (HP:0001945)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Gynecomastia (HP:0000771)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Adrenogenital syndrome (HP:0000840)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)
Gene: CYP21A2
Phenotype: Hypertension (HP:0000822)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (OMIM:201910)