TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1643):
Xp22.3 microdeletion syndrome
Del(X)(p23)

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
Disease (ORPHA:2975):
46,XX difference of sex development-skeletal anomalies syndrome
46,XX disorder of sex development-skeletal anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000061
hpo_term: Ambiguous genitalia, female
chpo_term: 女性外阴性别不明
id: HP:0000063
hpo_term: Fused labia minora
chpo_term: 小阴唇融合
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0003871
hpo_term: Deformed humerus
chpo_term: 肱骨变形
id: HP:0007628
hpo_term: Mandibular condyle hypoplasia
chpo_term: 下颌骨髁发育不全
id: HP:0010650
hpo_term: Hypoplasia of the premaxilla
chpo_term: 前颌骨发育不良
id: HP:0040253
hpo_term: Increased size of the clitoris
chpo_term: 阴蒂异常增大
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0000137
hpo_term: Abnormality of the ovary
chpo_term: 卵巢异常
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
Disease (ORPHA:1642):
Telomeric deletion 9p
Monosomy 9pter
Distal monosomy 9p
Distal deletion 9p syndrome

Associated phenotypes (HPO):
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
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: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:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:2976):
Patterson pseudoleprechaunism syndrome
Patterson syndrome
Pseudoleprechaunism syndrome, Patterson type

Associated phenotypes (HPO):
id: HP:0003310
hpo_term: Abnormality of the odontoid process
chpo_term: 齿状突异常
id: HP:0004979
hpo_term: Metaphyseal sclerosis
chpo_term: 干骺端硬化
id: HP:0006505
hpo_term: Abnormal limb epiphysis morphology
chpo_term: 四肢骨骺形态异常
id: HP:0007517
hpo_term: Palmoplantar cutis laxa
chpo_term: 掌跖皮肤松弛
id: HP:0007574
hpo_term: Generalized bronze hyperpigmentation
chpo_term: 弥漫性青铜色色素沉着
id: HP:0008788
hpo_term: Delayed pubic bone ossification
chpo_term: 耻骨骨化延迟
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012767
hpo_term: Abnormal placental size
chpo_term: 胎盘大小异常
id: HP:0430005
hpo_term: Abnormal ethmoid bone morphology
chpo_term: 筛骨形态异常
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:3000077
hpo_term: Abnormal mandible condylar process morphology
chpo_term: 下颌骨髁突形态异常
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0012412
hpo_term: Premature adrenarche
chpo_term: 肾上腺功能早现
id: HP:0030348
hpo_term: Increased circulating androgen concentration
chpo_term: 循环雄激素浓度增加
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000015
hpo_term: Bladder diverticulum
chpo_term: 膀胱憩室
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
Disease (ORPHA:2978):
Chronic intestinal pseudoobstruction syndrome
CIPO
Chronic intestinal pseudoobstruction

Associated phenotypes (HPO):
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0011875
hpo_term: Abnormal platelet morphology
chpo_term: 血小板形态异常
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
Disease (ORPHA:466934):
VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
VPS11-related autosomal recessive hypomyelinating leukodystrophy

Associated phenotypes (HPO):
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0007204
hpo_term: Diffuse white matter abnormalities
chpo_term: 弥漫性脑白质异常
id: HP:0007301
hpo_term: Oromotor apraxia
chpo_term: 口部失用
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
Disease (ORPHA:436274):
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
PXE-like syndrome with retinitis pigmentosa

Associated phenotypes (HPO):
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0007522
hpo_term: Increased number of skin folds
chpo_term: 皮肤皱褶增多
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0007980
hpo_term: Absent retinal pigment epithelium
chpo_term: 视网膜色素上皮缺如
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0001098
hpo_term: Abnormal fundus morphology
chpo_term: 眼底形态异常
Disease (ORPHA:141333):
Biemond syndrome type 2
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005321
hpo_term: Mandibulofacial dysostosis
chpo_term: 下颌面骨发育不全
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
Disease (ORPHA:217067):
Pouchitis

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0012701
hpo_term: Bowel urgency
chpo_term: 排便紧迫感
id: HP:0012702
hpo_term: Tenesmus
chpo_term: 里急后重
id: HP:0032155
hpo_term: Abdominal cramps
chpo_term: 腹部绞痛
id: HP:0032168
hpo_term: Clostridium difficile colitis
chpo_term: 艰难梭菌结肠炎
id: HP:0500005
hpo_term: Anal pain
chpo_term: 肛门疼痛
Disease (ORPHA:436271):
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy

Associated phenotypes (HPO):
id: HP:0006980
hpo_term: Progressive leukoencephalopathy
chpo_term: 进行性脑白质病
id: HP:0007133
hpo_term: Progressive peripheral neuropathy
chpo_term: 进行性周围神经病
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0006555
hpo_term: Diffuse hepatic steatosis
chpo_term: 弥漫性肝脂肪变性
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0030195
hpo_term: Fatigable weakness of swallowing muscles
chpo_term: 吞咽肌肉疲劳性无力
id: HP:0040291
hpo_term: Skeletal muscle steatosis
chpo_term: 骨骼肌脂肪变性
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
Disease (ORPHA:2970):
Obrinsky syndrome
Triad syndrome
Eagle-Barret syndrome
Abdominal muscle deficiency syndrome
Prune belly syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000014
hpo_term: Abnormality of the bladder
chpo_term: 膀胱异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
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:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0005199
hpo_term: Aplasia of the abdominal wall musculature
chpo_term: 腹壁肌肉发育不全
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010957
hpo_term: Congenital posterior urethral valve
chpo_term: 先天性后尿道瓣膜
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
Disease (ORPHA:280779):
Cutaneous collagenous vasculopathy
CCV

Associated phenotypes (HPO):
id: HP:0007489
hpo_term: Diffuse telangiectasia
chpo_term: 弥漫性毛细血管扩张
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0007394
hpo_term: Prominent superficial blood vessels
chpo_term: 浅表血管突出
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
Disease (ORPHA:314647):
Non-progressive cerebellar ataxia with intellectual disability

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002470
hpo_term: Nonprogressive cerebellar ataxia
chpo_term: 非进行性小脑性共济失调
id: HP:0002536
hpo_term: Abnormal cortical gyration
chpo_term: 脑皮质沟回异常
id: HP:0011166
hpo_term: Focal myoclonic seizure
chpo_term: 局灶性肌阵挛发作
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0011067
hpo_term: Mesiodens
chpo_term: 正中多生牙
id: HP:0025517
hpo_term: Hypoplastic hippocampus
chpo_term: 海马回发育不良
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0400005
hpo_term: Short ear
chpo_term: 短耳
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
Disease (ORPHA:2971):
Pseudoadrenoleukodystrophy
Pseudo-neonatal adrenoleukodystrophy
Peroxisomal acyl-CoA oxidase deficiency
Pseudo-NALD

Associated phenotypes (HPO):
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
Disease (ORPHA:1647):
Delleman-Oorthuys syndrome
Oculocerebrocutaneous syndrome
Leichtman-Wood-Rohn syndrome
Delleman syndrome
Orbital cyst with cerebral and focal dermal malformations
OCCS

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002334
hpo_term: Abnormal cerebellar vermis morphology
chpo_term: 小脑蚓部形态异常
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
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:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010185
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the toes
chpo_term: 末节趾骨发育不良/发育不全
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0100777
hpo_term: Exostoses
chpo_term: 外生骨疣
Disease (ORPHA:2972):
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Stoelinga-de Koomen-Davis syndrome

Associated phenotypes (HPO):
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0005439
hpo_term: Maxillozygomatic hypoplasia
chpo_term: 上颌颧骨发育不全
id: HP:0006329
hpo_term: Alveolar process hypoplasia
chpo_term: 牙槽突发育不全
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常