TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2324):
Kaler-Garrity-Stern syndrome
Osteopenia-intellectual disability-sparse hair syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001757
hpo_term: High-frequency sensorineural hearing impairment
chpo_term: 高频感音神经性听力障碍
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:2323):
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Sanjad-Sakati syndrome
SSS
Richardson-Kirk syndrome
HRD syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
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:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
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:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005374
hpo_term: Cellular immunodeficiency
chpo_term: 细胞免疫缺陷
id: HP:0005686
hpo_term: Patchy osteosclerosis
chpo_term: 斑片性骨硬化
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0008198
hpo_term: Congenital hypoparathyroidism
chpo_term: 先天性甲状旁腺功能减退症
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:2321):
Jung syndrome

Associated phenotypes (HPO):
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
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:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
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:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
Disease (ORPHA:70567):
CCA
Cholangiocarcinoma
Bile duct cancer

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0011985
hpo_term: Acholic stools
chpo_term: 无胆色大便
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100574
hpo_term: Biliary tract neoplasm
chpo_term: 胆管新生物
Disease (ORPHA:70568):
Post-transplant lymphoproliferative disease
PTLD

Associated phenotypes (HPO):
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025267
hpo_term: Snoring
chpo_term: 打鼾
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0033050
hpo_term: Pharyngalgia
chpo_term: 咽痛
id: HP:0033834
hpo_term: Malaise
chpo_term: 全身乏力不适
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0033608
hpo_term: Pulmonary nodule
chpo_term: 肺结节
Disease (ORPHA:59303):
Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
NISCH syndrome
IHSC
Neonatal ichthyosis-sclerosing cholangitis syndrome

Associated phenotypes (HPO):
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
Disease (ORPHA:90153):
Mandibuloacral dysplasia with type A lipodystrophy
MADA

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001870
hpo_term: Acroosteolysis of distal phalanges (feet)
chpo_term: 远节趾骨肢端溶骨
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0006710
hpo_term: Aplasia/Hypoplasia of the clavicles
chpo_term: 锁骨发育不良/发育不全
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0009839
hpo_term: Osteolytic defects of the distal phalanges of the hand
chpo_term: 手末节指骨溶骨性缺陷
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
Disease (ORPHA:276575):
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency

Associated phenotypes (HPO):
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0030796
hpo_term: Increased C-peptide level
chpo_term: C-肽水平增高
id: HP:0031084
hpo_term: Excessive insulin response to glucagon test
chpo_term: 胰岛素对胰高血糖素试验反应过度
id: HP:0040299
hpo_term: Decreased circulating free fatty acid level
chpo_term: 循环游离脂肪酸水平降低
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001069
hpo_term: Episodic hyperhidrosis
chpo_term: 发作性多汗症
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0031223
hpo_term: Focal pancreatic islet hyperplasia
chpo_term: 局灶性胰岛增生
id: HP:0031224
hpo_term: Diffuse pancreatic islet hyperplasia
chpo_term: 弥漫性胰岛增生
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001325
hpo_term: Hypoglycemic coma
chpo_term: 低血糖昏迷
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:90154):
Mandibuloacral dysplasia with type B lipodystrophy

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001211
hpo_term: Abnormal fingertip morphology
chpo_term: 指尖形态异常
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001870
hpo_term: Acroosteolysis of distal phalanges (feet)
chpo_term: 远节趾骨肢端溶骨
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003761
hpo_term: Calcinosis
chpo_term: 钙质沉着
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0006710
hpo_term: Aplasia/Hypoplasia of the clavicles
chpo_term: 锁骨发育不良/发育不全
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009064
hpo_term: Generalized lipodystrophy
chpo_term: 全身脂肪营养不良
id: HP:0009839
hpo_term: Osteolytic defects of the distal phalanges of the hand
chpo_term: 手末节指骨溶骨性缺陷
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
Disease (ORPHA:169079):
Cernunnos XLFD
NHEJ1 deficiency
Cernunnos-XLF deficiency
Cernunnos deficiency
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000320
hpo_term: Bird-like facies
chpo_term: 鸟样面相
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
Disease (ORPHA:2328):
Kapur-Toriello syndrome
Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
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:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
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:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
Disease (ORPHA:90156):
Lipodystrophia centrifugalis abdominalis infantilis
Centrifugal lipodystrophy

Associated phenotypes (HPO):
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0005320
hpo_term: Lack of facial subcutaneous fat
chpo_term: 面部皮下脂肪缺乏
Disease (ORPHA:90157):
Lipoatrophy caused by injected drug
Drug-induced localized lipodystrophy

Associated phenotypes (HPO):
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
Disease (ORPHA:314478):
Ovarian fibrothecoma

Associated phenotypes (HPO):
id: HP:0000137
hpo_term: Abnormality of the ovary
chpo_term: 卵巢异常
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0003117
hpo_term: Abnormal circulating hormone concentration
chpo_term: 血液激素水平异常
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0006756
hpo_term: Diffuse leiomyomatosis
chpo_term: 弥漫性平滑肌瘤病
id: HP:0008703
hpo_term: Gonadal calcification
chpo_term: 性腺钙化
id: HP:0010618
hpo_term: Ovarian fibroma
chpo_term: 卵巢纤维瘤
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0030126
hpo_term: Abnormal endometrium morphology
chpo_term: 子宫内膜形态异常
id: HP:0100244
hpo_term: Fibrosarcoma
chpo_term: 纤维肉瘤
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
Disease (ORPHA:2326):
Kallmann syndrome-heart disease 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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0010632
hpo_term: Total anosmia
chpo_term: 全面嗅觉丧失
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000200
hpo_term: Short lingual frenulum
chpo_term: 舌系带过短
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004971
hpo_term: Pulmonary artery hypoplasia
chpo_term: 肺动脉发育不全
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010633
hpo_term: Partial anosmia
chpo_term: 部分嗅觉丧失
id: HP:0011638
hpo_term: Anomalous origin of left coronary artery from the pulmonary artery
chpo_term: 肺动脉源性左冠状动脉起源异常
id: HP:0012020
hpo_term: Right aortic arch
chpo_term: 右位主动脉弓
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0005211
hpo_term: Midgut malrotation
chpo_term: 中肠旋转不良
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
Disease (ORPHA:276580):
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Dominant KATP hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

Associated phenotypes (HPO):
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0030796
hpo_term: Increased C-peptide level
chpo_term: C-肽水平增高
id: HP:0031084
hpo_term: Excessive insulin response to glucagon test
chpo_term: 胰岛素对胰高血糖素试验反应过度
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001069
hpo_term: Episodic hyperhidrosis
chpo_term: 发作性多汗症
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0004924
hpo_term: Abnormal oral glucose tolerance
chpo_term: 口服葡萄糖耐量异常
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0031224
hpo_term: Diffuse pancreatic islet hyperplasia
chpo_term: 弥漫性胰岛增生
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001325
hpo_term: Hypoglycemic coma
chpo_term: 低血糖昏迷
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:363432):
Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
SCAR18

Associated phenotypes (HPO):
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:251915):
PTPR
Papillary tumor of the pineal region

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
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:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0030531
hpo_term: Altitudinal visual field defect
chpo_term: 垂直视野缺损
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳