TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:171866):
SEMD, aggrecan type
Spondyloepimetaphyseal dysplasia, aggrecan type

Associated phenotypes (HPO):
id: HP:0005285
hpo_term: Absent nasal bridge
chpo_term: 无鼻梁
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
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:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
Disease (ORPHA:3176):
Spina bifida-hypospadias syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0010301
hpo_term: Spinal dysraphism
chpo_term: 椎管闭合不全
Disease (ORPHA:3177):
Der Kaloustian-Jarudi-Khoury syndrome
Spinocerebellar degeneration-corneal dystrophy syndrome

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0007006
hpo_term: Dorsal column degeneration
chpo_term: 后索变性
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
Disease (ORPHA:330021):
Mercury poisoning
Hydrargyria
Mercurialism
Mercury intoxication

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
Disease (ORPHA:85290):
X-linked intellectual disability, Wilson type

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000321
hpo_term: Square face
chpo_term: 方脸
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0010814
hpo_term: Abnormal position of hair whorl
chpo_term: 发旋位置异常
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
Disease (ORPHA:97261):
GRFoma
Growth hormone releasing factor tumor
GRF tumor

Associated phenotypes (HPO):
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001438
hpo_term: Abnormal abdomen morphology
chpo_term: 腹部形态结构异常
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002044
hpo_term: Zollinger-Ellison syndrome
chpo_term: Zollinger-Ellison 综合征
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
id: HP:0030144
hpo_term: Hypoactive bowel sounds
chpo_term: 肠鸣音减弱
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0001031
hpo_term: Subcutaneous lipoma
chpo_term: 皮下脂肪瘤
id: HP:0001046
hpo_term: Intermittent jaundice
chpo_term: 间歇性黄疸
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0002897
hpo_term: Parathyroid adenoma
chpo_term: 甲状旁腺腺瘤
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0006723
hpo_term: Intestinal carcinoid
chpo_term: 肠道类癌
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0008256
hpo_term: Adrenocortical adenoma
chpo_term: 肾上腺皮质腺瘤
id: HP:0012334
hpo_term: Extrahepatic cholestasis
chpo_term: 肝外胆汁淤积
id: HP:0030145
hpo_term: Lack of bowel sounds
chpo_term: 肠鸣音消失
id: HP:0100833
hpo_term: Neoplasm of the small intestine
chpo_term: 小肠新生物
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
id: HP:0100521
hpo_term: Neoplasm of the thymus
chpo_term: 胸腺肿瘤
Disease (ORPHA:370924):
STT3B-CDG
Carbohydrate deficient glycoprotein syndrome type Ix
CDG syndrome type Ix
CDG1X
Congenital disorder of glycosylation type 1x
CDG-Ix
Congenital disorder of glycosylation type Ix

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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012345
hpo_term: Abnormal glycosylation
chpo_term: 糖基化异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
Disease (ORPHA:3162):
Sézary syndrome
Sézary lymphoma

Associated phenotypes (HPO):
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002843
hpo_term: Abnormal T cell morphology
chpo_term: T细胞形态异常
id: HP:0004332
hpo_term: Abnormal lymphocyte morphology
chpo_term: 淋巴细胞形态异常
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0012192
hpo_term: Cutaneous T-cell lymphoma
chpo_term: 皮肤T细胞淋巴瘤
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0033221
hpo_term: Increased CD4:CD8 ratio
chpo_term: CD4:CD8 比值增高
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010701
hpo_term: Abnormal immunoglobulin level
chpo_term: 免疫球蛋白水平异常
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0025144
hpo_term: Shivering
chpo_term: 颤抖
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
Disease (ORPHA:370927):
Congenital disorder of glycosylation type 1y
SSR4-CDG
CDG1Y
CDG syndrome type Iy
Carbohydrate deficient glycoprotein syndrome type Iy
Congenital disorder of glycosylation type Iy
CDG-Iy

Associated phenotypes (HPO):
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
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:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011339
hpo_term: Abnormality of upper lip vermillion
chpo_term: 上唇红异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
Disease (ORPHA:3163):
Lipodystrophy-Rieger anomaly-diabetes syndrome
SHORT syndrome
Rieger anomaly-partial lipodystrophy syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000615
hpo_term: Abnormal pupil morphology
chpo_term: 瞳孔形态异常
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000277
hpo_term: Abnormal mandible morphology
chpo_term: 下颌骨形态异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0010668
hpo_term: Abnormal zygomatic bone morphology
chpo_term: 颧骨形态异常
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:3164):
Omphalocele syndrome, Shprintzen-Goldberg type

Associated phenotypes (HPO):
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
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:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
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:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0005956
hpo_term: Anteroposteriorly shortened larynx
chpo_term: 喉前后径缩短
id: HP:0008749
hpo_term: Laryngeal hypoplasia
chpo_term: 喉发育不全
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009555
hpo_term: Hypoplasia of the pharynx
chpo_term: 咽发育不全
Disease (ORPHA:583097):
Facial infused lipomatosis
CIL-F
Fibroadipose infiltrating lipomatosis
Congenital infiltrating lipomatosis of the face

Associated phenotypes (HPO):
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0007552
hpo_term: Abnormal subcutaneous fat tissue distribution
chpo_term: 皮下脂肪组织分布异常
id: HP:0011801
hpo_term: Enlargement of parotid gland
chpo_term: 腮腺肿大
id: HP:0012370
hpo_term: Prominence of the zygomatic bone
chpo_term: 颧骨突出
id: HP:0030812
hpo_term: Enlarged tonsils
chpo_term: 扁桃体肿大
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0031023
hpo_term: Multiple mucosal neuromas
chpo_term: 多发性粘膜神经瘤
id: HP:0012478
hpo_term: Temporomandibular joint ankylosis
chpo_term: 颞下颌关节强直
Disease (ORPHA:178475):
Skin toxin-mediated botulism
Inoculation botulism
Wound botulism
Skin infectious botulism
Cutaneous toxin-mediated botulism
Cutaneous infectious botulism

Associated phenotypes (HPO):
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
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:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:85277):
X-linked intellectual disability, Cantagrel type

Associated phenotypes (HPO):
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
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:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
Disease (ORPHA:178478):
Infant botulism
Infant intestinal toxin-mediated botulism
Infant intestinal toxemia botulism
Infant intestinal botulism
Infantile botulism

Associated phenotypes (HPO):
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000600
hpo_term: Abnormality of the pharynx
chpo_term: 咽部异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
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:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常