Disease (OMIM:201750):
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Associated phenotypes (HPO):
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0002780
hpo_term: Bronchomalacia
chpo_term: 支气管软化
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:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0003351
hpo_term: Decreased circulating renin level
chpo_term: 血肾素水平降低
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0011410
hpo_term: Caesarian section
chpo_term: 剖腹产
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0020206
hpo_term: Simple ear
chpo_term: 简平耳
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0001586
hpo_term: Vesicovaginal fistula
chpo_term: 膀胱阴道瘘
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0032569
hpo_term: Temporal bossing
chpo_term: 颞部肿块
id: HP:0033812
hpo_term: Decreased circulating androstenedione concentration
chpo_term: 血液雄烯二酮浓度降低
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0025486
hpo_term: Fused labia majora
chpo_term: 融合大阴唇
id: HP:0008072
hpo_term: Maternal virilization in pregnancy
chpo_term: 孕期母体男性化
id: HP:0008073
hpo_term: Low maternal circulating estriol concentration
chpo_term: 母体循环雌三醇水平低
id: HP:0008233
hpo_term: Decreased circulating progesterone
chpo_term: 血液孕酮水平降低
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0025436
hpo_term: Elevated serum 11-deoxycortisol
chpo_term: 血清11-脱氧皮质醇升高
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0002676
hpo_term: Cloverleaf skull
chpo_term: 分叶状颅
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0031213
hpo_term: Elevated circulating 17-hydroxyprogesterone
chpo_term: 循环17-羟孕酮升高
id: HP:0031214
hpo_term: Decreased circulating dehydroepiandrosterone concentration
chpo_term: 循环脱氢表雄酮浓度下降
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0031216
hpo_term: Increased circulating progesterone
chpo_term: 循环孕激素升高
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经