Disease (ORPHA:818):
RSH syndrome
SLOS
7-dehydrocholesterol reductase deficiency
Smith-Lemli-Opitz syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010569
hpo_term: Elevated 7-dehydrocholesterol
chpo_term: 7-脱氢胆固醇水平升高
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0000996
hpo_term: Facial capillary hemangioma
chpo_term: 面部毛细血管瘤
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001600
hpo_term: Abnormality of the larynx
chpo_term: 喉部异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001543
hpo_term: Gastroschisis
chpo_term: 腹裂
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001884
hpo_term: Talipes calcaneovalgus
chpo_term: 跟骨畸形
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0005264
hpo_term: Abnormality of the gallbladder
chpo_term: 胆囊异常
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0100542
hpo_term: Abnormal localization of kidney
chpo_term: 肾脏位置异常