TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1865):
Dyssegmental dysplasia, Silverman-Handmaker type

Associated phenotypes (HPO):
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002879
hpo_term: Anisospondyly
chpo_term: 椎体大小不等
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0003175
hpo_term: Hypoplastic ischia
chpo_term: 坐骨发育不全
id: HP:0005622
hpo_term: Broad long bones
chpo_term: 长骨增宽
id: HP:0032548
hpo_term: Increased placental thickness
chpo_term: 胎盘增厚
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
Disease (ORPHA:1852):
X-linked retinal dysplasia

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
Disease (ORPHA:1851):
MCDK
Multicystic dysplastic kidney
Multicystic renal dysplasia

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000070
hpo_term: Ureterocele
chpo_term: 输尿管囊肿
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0030735
hpo_term: Ureterovesical junction obstruction
chpo_term: 膀胱输尿管交界处梗阻
Disease (ORPHA:1858):
Skeletal dysplasia-epilepsy-short stature syndrome
Gurrieri-Sammito-Bellussi syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
Disease (ORPHA:1856):
Spondyloperipheral dysplasia-short ulna syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001384
hpo_term: Abnormal hip joint morphology
chpo_term: 髋关节形态异常
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0005106
hpo_term: Abnormality of the vertebral endplates
chpo_term: 椎骨终板异常
id: HP:0005863
hpo_term: Type E brachydactyly
chpo_term: E型短指（趾）
id: HP:0008788
hpo_term: Delayed pubic bone ossification
chpo_term: 耻骨骨化延迟
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0045060
hpo_term: Aplasia/hypoplasia involving bones of the extremities
chpo_term: 四肢骨发育不良/发育不全
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0008812
hpo_term: Flattened femoral head
chpo_term: 股骨头扁平
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
Disease (ORPHA:54595):
Craniopharyngioma

Associated phenotypes (HPO):
id: HP:0012286
hpo_term: Abnormal hypothalamus morphology
chpo_term: 下丘脑形态异常
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0010576
hpo_term: Intracranial cystic lesion
chpo_term: 颅内囊性病变
id: HP:0011750
hpo_term: Neoplasm of the anterior pituitary
chpo_term: 垂体前叶肿瘤
id: HP:0012505
hpo_term: Enlarged pituitary gland
chpo_term: 垂体增大
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
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:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0007987
hpo_term: Progressive visual field defects
chpo_term: 进行性视野缺失
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0011734
hpo_term: Central adrenal insufficiency
chpo_term: 中枢性肾上腺功能不全
id: HP:0030521
hpo_term: Bitemporal hemianopia
chpo_term: 双颞侧偏盲
id: HP:0030588
hpo_term: Abnormal visual field test
chpo_term: 视野检查异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001117
hpo_term: Sudden loss of visual acuity
chpo_term: 突发性视力丧失
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:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010939
hpo_term: Abnormal nasal bone morphology
chpo_term: 鼻骨骼形态异常
id: HP:0430000
hpo_term: Abnormal frontal bone morphology
chpo_term: 额骨形态异常
Disease (ORPHA:404473):
Severe intellectual disability-progressive spastic diplegia syndrome
Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome
CTNNB1 syndrome

Associated phenotypes (HPO):
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
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: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:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0025160
hpo_term: Abnormal temper tantrums
chpo_term: 异常发脾气
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:157954):
ANE syndrome
Alopecia-progressive neurological defect-endocrinopathy 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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
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:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
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:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0007373
hpo_term: Motor neuron atrophy
chpo_term: 运动神经元萎缩
id: HP:0007481
hpo_term: Hyperpigmented nevi
chpo_term: 色素痣
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0011735
hpo_term: Adrenocorticotropin deficient adrenal insufficiency
chpo_term: 促肾上腺皮质激素缺陷性肾上腺功能不全
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）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:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0008202
hpo_term: Reduced circulating prolactin concentration
chpo_term: 泌乳素水平下降
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
Disease (ORPHA:1839):
Urban-Schosser-Spohn syndrome
Hereditary mucoepithelial dysplasia

Associated phenotypes (HPO):
id: HP:0000008
hpo_term: Abnormal morphology of female internal genitalia
chpo_term: 女性内生殖器形态异常
id: HP:0000014
hpo_term: Abnormality of the bladder
chpo_term: 膀胱异常
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000221
hpo_term: Furrowed tongue
chpo_term: 沟裂舌
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0012732
hpo_term: Anorectal anomaly
chpo_term: 肛肠异常
Disease (ORPHA:620102):
Non-syndromic anterior synostotic plagiocephaly
Non-syndromic unilateral coronal synostosis
Non-syndromic frontoparietal craniosynostosis
Non-syndromic hemicoronal craniosynostosis
Isolated unicoronal craniosynostosis
Non-syndromic unicoronal craniosynostosis
Isolated frontal plagiocephaly

Associated phenotypes (HPO):
id: HP:0000290
hpo_term: Abnormality of the forehead
chpo_term: 前额异常
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004484
hpo_term: Craniofacial asymmetry
chpo_term: 颅面不对称
id: HP:0011225
hpo_term: Epiblepharon
chpo_term: 睑赘皮
id: HP:3000030
hpo_term: Abnormal morphology of bony orbit of skull
chpo_term: 颅骨眼眶形态异常
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0012803
hpo_term: Anisometropia
chpo_term: 屈光参差
id: HP:0030001
hpo_term: Lagopthalmos
chpo_term: 睑裂闭合不全
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
Disease (ORPHA:217266):
BNAR syndrome
Bifid nose with or without anorectal and renal anomalies

Associated phenotypes (HPO):
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
id: HP:0000200
hpo_term: Short lingual frenulum
chpo_term: 舌系带过短
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0010322
hpo_term: Abnormality of the 5th toe
chpo_term: 第五趾异常
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0012252
hpo_term: Abnormal respiratory system morphology
chpo_term: 呼吸系统形态学异常
Disease (ORPHA:1848):
Renal agenesis, bilateral

Associated phenotypes (HPO):
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
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:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001958
hpo_term: Nonketotic hypoglycemia
chpo_term: 非酮症性低血糖
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001563
hpo_term: Fetal polyuria
chpo_term: 胎儿多尿
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0005107
hpo_term: Abnormal sacrum morphology
chpo_term: 骶骨形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100589
hpo_term: Urogenital fistula
chpo_term: 泌尿生殖道瘘
id: HP:0000008
hpo_term: Abnormal morphology of female internal genitalia
chpo_term: 女性内生殖器形态异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0010497
hpo_term: Sirenomelia
chpo_term: 美人鱼综合症（并腿畸形）
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:140286):
Secondary hypoparathyroidism due to impaired parathormon secretion

Associated phenotypes (HPO):
id: HP:0000828
hpo_term: Abnormality of the parathyroid gland
chpo_term: 甲状旁腺异常
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031817
hpo_term: Decreased circulating parathyroid hormone level
chpo_term: 甲状旁腺激素水平降低
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0025425
hpo_term: Laryngospasm
chpo_term: 喉痉挛
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0031990
hpo_term: Chvostek sign
chpo_term: 面神经叩击征
id: HP:0033630
hpo_term: Brain fog
chpo_term: 脑雾
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:4000007
hpo_term: Bronchoconstriction
chpo_term: 支气管收缩
id: HP:6000919
Disease (ORPHA:217260):
Progressive multifocal leukoencephalitis
Progressive multifocal leukoencephalopathy
PML

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0031392
hpo_term: Abnormal proportion of CD4-positive T cells
chpo_term: CD4+ T细胞比例异常
id: HP:0100706
hpo_term: Abnormal oligodendroglia morphology
chpo_term: 少突胶质细胞形态异常
id: HP:0100707
hpo_term: Abnormal astrocyte morphology
chpo_term: 星形胶质细胞形态异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0005415
hpo_term: Decreased proportion of CD8-positive T cells
chpo_term: CD8 + T细胞数目减低
id: HP:0010549
hpo_term: Weakness due to upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍导致的无力
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0012246
hpo_term: Oculomotor nerve palsy
chpo_term: 动眼神经麻痹
id: HP:0025479
hpo_term: Self-neglect
chpo_term: 自我忽视
id: HP:0030516
hpo_term: Homonymous hemianopia
chpo_term: 同侧偏盲
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常