Disease (ORPHA:95699):
Congenital adrenal hyperplasia due to cytochrome POR deficiency
PORD
POR deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Associated phenotypes (HPO):
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0011911
hpo_term: Abnormal metacarpophalangeal joint morphology
chpo_term: 掌指关节形态异常
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0001440
hpo_term: Metatarsal synostosis
chpo_term: 跖骨骨性融合
id: HP:0009701
hpo_term: Metacarpal synostosis
chpo_term: 掌骨骨性融合
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0005892
hpo_term: Proximal tibial and fibular fusion
chpo_term: 胫腓骨近端融合
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000811
hpo_term: Abnormal external genitalia
chpo_term: 外生殖器异常
id: HP:0000055
hpo_term: Abnormality of female external genitalia
chpo_term: 女性外生殖器异常
id: HP:0040253
hpo_term: Increased size of the clitoris
chpo_term: 阴蒂异常增大
id: HP:0025486
hpo_term: Fused labia majora
chpo_term: 融合大阴唇
id: HP:0000032
hpo_term: Abnormality of male external genitalia
chpo_term: 男性外生殖器异常
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
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:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0031074
hpo_term: Abnormal response to ACTH stimulation test
chpo_term: ACTH刺激试验反应异常
id: HP:0031213
hpo_term: Elevated circulating 17-hydroxyprogesterone
chpo_term: 循环17-羟孕酮升高
id: HP:0031216
hpo_term: Increased circulating progesterone
chpo_term: 循环孕激素升高
id: HP:0031187
hpo_term: Abnormal circulating pregnenolone concentration
chpo_term: 循环孕烯醇酮浓度异常
id: HP:0031215
hpo_term: Decreased circulating dehydroepiandrosterone-sulfate concentration
chpo_term: 循环脱氢表雄酮-硫酸酯浓度降低
id: HP:0030349
hpo_term: Decreased circulating androgen concentration
chpo_term: 循环雄激素浓度降低
id: HP:0031083
hpo_term: Abnormal response to human chorionic gonadotrophin stimulation test
chpo_term: 人绒毛膜促性腺激素刺激试验反应异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0008675
hpo_term: Enlarged polycystic ovaries
chpo_term: 增大的多囊卵巢
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0008072
hpo_term: Maternal virilization in pregnancy
chpo_term: 孕期母体男性化
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0003070
hpo_term: Elbow ankylosis
chpo_term: 肘运动受限
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0011302
hpo_term: Long palm
chpo_term: 长掌
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0003275
hpo_term: Narrow pelvis bone
chpo_term: 骨盆狭窄
id: HP:0006439
hpo_term: Radioulnar dislocation
chpo_term: 尺桡关节脱位
id: HP:0003049
hpo_term: Ulnar deviation of the wrist
chpo_term: 手腕向尺侧偏斜
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0005913
hpo_term: Abnormal metacarpal epiphysis morphology
chpo_term: 掌故骨骺形态异常
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0006118
hpo_term: Shortening of all distal phalanges of the fingers
chpo_term: 手指的所有远端指骨缩短
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0010946
hpo_term: Dilatation of the renal pelvis
chpo_term: 肾盂扩张
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0011403
hpo_term: Abnormal umbilical cord blood vessel morphology
chpo_term: 脐带血管形态异常
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0007466
hpo_term: Midfrontal capillary hemangioma
chpo_term: 额中部毛细血管瘤
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000927
hpo_term: Abnormality of skeletal maturation
chpo_term: 骨骼成熟异常
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0032362
hpo_term: Increased circulating corticosterone level
chpo_term: 血液皮质酮水平升高
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:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0031100
hpo_term: Decreased inhibin B level
chpo_term: 抑制素B水平降低
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0031065
hpo_term: Abnormal ovarian morphology
chpo_term: 卵巢形态异常
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢