Disease (ORPHA:289548):
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000848
hpo_term: Increased circulating renin level
chpo_term: 血肾素水平升高
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001197
hpo_term: Abnormality of prenatal development or birth
chpo_term: 胎儿产前发育或出生异常
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003107
hpo_term: Abnormal circulating cholesterol concentration
chpo_term: 胆固醇代谢异常
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0004319
hpo_term: Decreased circulating aldosterone level
chpo_term: 醛固酮减少症
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0007574
hpo_term: Generalized bronze hyperpigmentation
chpo_term: 弥漫性青铜色色素沉着
id: HP:0008073
hpo_term: Low maternal circulating estriol concentration
chpo_term: 母体循环雌三醇水平低
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0008730
hpo_term: Female external genitalia in individual with 46,XY karyotype
chpo_term: 染色体核型为46,XY的个体具有女性外生殖器
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010789
hpo_term: Abnormality of the Leydig cells
chpo_term: 睾丸间质细胞异常
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0011749
hpo_term: Adrenocorticotropic hormone excess
chpo_term: 促肾上腺皮质激素过多
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012244
hpo_term: Abnormal sex determination
chpo_term: 性别决定异常
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0012598
hpo_term: Abnormal urine potassium concentration
chpo_term: 尿钾浓度异常
id: HP:0012605
hpo_term: Hypernatriuria
chpo_term: 高钠尿症
id: HP:0030349
hpo_term: Decreased circulating androgen concentration
chpo_term: 循环雄激素浓度降低
id: HP:0030369
hpo_term: Induced vaginal delivery
chpo_term: 催产阴道分娩
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0010512
hpo_term: Adrenal calcification
chpo_term: 肾上腺钙化
id: HP:0012854
hpo_term: Midshaft hypospadias
chpo_term: 中段尿道下裂