TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:525731):
Pediatric-onset Graves disease
Pediatric-onset Basedow disease

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0011703
hpo_term: Sinus tachycardia
chpo_term: 窦性心动过速
id: HP:0011784
hpo_term: Thyrotoxicosis with diffuse goiter
chpo_term: 甲状腺毒症伴弥漫性甲状腺肿
id: HP:0031506
hpo_term: Increased circulating T4 concentration
chpo_term: 循环T4水平升高
id: HP:0100647
hpo_term: Graves disease
chpo_term: Graves病
id: HP:0000237
hpo_term: Small anterior fontanelle
chpo_term: 小前囟
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0008373
hpo_term: Puberty and gonadal disorders
chpo_term: 青春期及性腺疾病
id: HP:0011788
hpo_term: Increased circulating free T3
chpo_term: 血液游离T3升高
id: HP:0025379
hpo_term: Anti-thyroid peroxidase antibody positivity
chpo_term: 抗甲状腺过氧化物酶抗体阳性
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0010519
hpo_term: Increased fetal movement
chpo_term: 胎动增加
id: HP:0100534
hpo_term: Episcleritis
chpo_term: 巩膜外层炎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0012768
hpo_term: Neonatal asphyxia
chpo_term: 新生儿窒息
id: HP:0200028
hpo_term: Pretibial myxedema
chpo_term: 胫前粘液性水肿
Disease (ORPHA:319671):
Microcephalic primordial dwarfism, Alazami type
Alazami syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
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:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0100738
hpo_term: Abnormal eating behavior
chpo_term: 进食行为异常
id: HP:0000315
hpo_term: Abnormality of the orbital region
chpo_term: 眼眶异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
Disease (ORPHA:447877):
Polymerase proofreading-related polyposis
PPAP
Polymerase proofreading-related adenomatous polyposis

Associated phenotypes (HPO):
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0012114
hpo_term: Endometrial carcinoma
chpo_term: 子宫内膜癌
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0030692
hpo_term: Brain neoplasm
chpo_term: 脑肿瘤
id: HP:0040276
hpo_term: Adenocarcinoma of the colon
chpo_term: 结肠腺癌
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
Disease (ORPHA:319675):
Microcephalic primordial dwarfism, Dauber type

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0001191
hpo_term: Abnormal carpal morphology
chpo_term: 腕骨形态异常
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:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001607
hpo_term: Subglottic stenosis
chpo_term: 声门下狭窄
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003067
hpo_term: Madelung deformity
chpo_term: 马德隆畸形
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004626
hpo_term: Lumbar scoliosis
chpo_term: 腰椎侧凸
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012814
hpo_term: Bilateral breast hypoplasia
chpo_term: 双侧乳房发育不良
Disease (ORPHA:2239):
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Associated phenotypes (HPO):
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0008198
hpo_term: Congenital hypoparathyroidism
chpo_term: 先天性甲状旁腺功能减退症
id: HP:0008211
hpo_term: Parathyroid agenesis
chpo_term: 甲状旁腺缺如
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
Disease (ORPHA:2238):
Familial isolated hypoparathyroidism

Associated phenotypes (HPO):
id: HP:0007352
hpo_term: Cerebellar calcifications
chpo_term: 小脑钙化
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0100530
hpo_term: Abnormal calcium-phosphate regulating hormone level
chpo_term: 磷酸盐和钙的调节激素异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003472
hpo_term: Hypocalcemic tetany
chpo_term: 低钙搐搦
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0025425
hpo_term: Laryngospasm
chpo_term: 喉痉挛
id: HP:0031627
hpo_term: Globus pallidus calcification
chpo_term: 苍白球钙化
Disease (ORPHA:69087):
Naegeli syndrome
NFJ syndrome
Naegeli-Franceschetti-Jadassohn syndrome

Associated phenotypes (HPO):
id: HP:0007427
hpo_term: Reticulated skin pigmentation
chpo_term: 网状色素沉着
id: HP:0007455
hpo_term: Adermatoglyphia
chpo_term: 皮纹病
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0007500
hpo_term: Decreased number of sweat glands
chpo_term: 汗腺数目减少
id: HP:0008392
hpo_term: Subungual hyperkeratosis
chpo_term: 甲下角化过度
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0031282
hpo_term: Malalignment of the great toenail
chpo_term: 趾甲错位
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001220
hpo_term: Interphalangeal joint contracture of finger
chpo_term: 指间关节挛缩
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0005586
hpo_term: Hyperpigmentation in sun-exposed areas
chpo_term: 晒斑，日光性色素沉着
id: HP:0006253
hpo_term: Swelling of proximal interphalangeal joints
chpo_term: 近端指（趾）关节肿胀
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0007530
hpo_term: Punctate palmoplantar hyperkeratosis
chpo_term: 点状掌跖角化
id: HP:0007599
hpo_term: Generalized reticulate brown pigmentation
chpo_term: 泛发性网状棕色色素沉着
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0031045
hpo_term: Acral blistering
chpo_term: 肢端水泡
Disease (ORPHA:227982):
APS3
Autoimmune polyglandular syndrome type 3
APS type 3
Autoimmune polyendocrinopathy type 3
Autoimmune polyendocrine syndrome type 3

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0002582
hpo_term: Atrophic gastritis
chpo_term: 萎缩性胃炎
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0100647
hpo_term: Graves disease
chpo_term: Graves病
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002613
hpo_term: Biliary cirrhosis
chpo_term: 胆汁性肝硬化
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0010625
hpo_term: Anterior pituitary dysgenesis
chpo_term: 垂体前叶发育不良
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001094
hpo_term: Iridocyclitis
chpo_term: 虹膜睫状体炎
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010451
hpo_term: Aplasia/Hypoplasia of the spleen
chpo_term: 脾未发育/发育不全
id: HP:0011771
hpo_term: Autoimmune hypoparathyroidism
chpo_term: 自身免疫性甲状旁腺功能减退症
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012220
hpo_term: Non-caseating epithelioid cell granulomatosis
chpo_term: 非干酪性上皮样细胞肉芽肿
id: HP:0100522
hpo_term: Thymoma
chpo_term: 胸腺瘤
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
Disease (ORPHA:69085):
Limb-mammary syndrome
LMS

Associated phenotypes (HPO):
id: HP:0000564
hpo_term: Lacrimal duct atresia
chpo_term: 泪道闭锁
id: HP:0001092
hpo_term: Absent lacrimal punctum
chpo_term: 泪小点缺失
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0002561
hpo_term: Absent nipple
chpo_term: 乳头缺失
id: HP:0012814
hpo_term: Bilateral breast hypoplasia
chpo_term: 双侧乳房发育不良
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0007717
hpo_term: Chronic irritative conjunctivitis
chpo_term: 慢性刺激性结膜炎
id: HP:0011819
hpo_term: Submucous cleft soft palate
chpo_term: 粘膜下软腭裂
id: HP:0011939
hpo_term: 3-4 finger cutaneous syndactyly
chpo_term: 第三-四指皮肤性并指
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0410005
hpo_term: Cleft hard palate
chpo_term: 硬腭裂
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0010463
hpo_term: Aplasia of the ovary
chpo_term: 卵巢发育不全
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:457205):
ANOAC
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Axonal neuropathy-optic atrophy-cognitive deficit syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0007817
hpo_term: Horizontal supranuclear gaze palsy
chpo_term: 水平核上性凝视麻痹
id: HP:0008366
hpo_term: Foot joint contracture
chpo_term: 足关节挛缩
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0030179
hpo_term: Abnormal peripheral action potential amplitude
chpo_term: 周围神经动作电位波幅异常
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0012411
hpo_term: Premature pubarche
chpo_term: 阴毛早现
Disease (ORPHA:158014):
Rosaï-Dorfman-Destombes disease
Sinus histiocytosis with massive lymphadenopathy
Destombes-Rosaï-Dorfman disease
Rosaï-Dorfman disease
SHML

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002961
hpo_term: Dysgammaglobulinemia
chpo_term: 异常丙种球蛋白血症
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:2224):
Hypertryptophanemia

Associated phenotypes (HPO):
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0003361
hpo_term: Tryptophanuria
chpo_term: 色氨酸尿症
id: HP:0500134
hpo_term: Hypertryptophanemia
chpo_term: 高色氨酸血症
Disease (ORPHA:2222):
Hypertrichosis lanuginosa congenita
Hypertrichosis universalis

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
Disease (ORPHA:279947):
Postorgasmic illness syndrome
POIS

Associated phenotypes (HPO):
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
Disease (ORPHA:2221):
Acquired hypertrichosis lanuginosa

Associated phenotypes (HPO):
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
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:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0100013
hpo_term: Neoplasm of the breast
chpo_term: 乳腺肿瘤
id: HP:0100606
hpo_term: Neoplasm of the respiratory system
chpo_term: 呼吸系统肿瘤
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
Disease (ORPHA:2220):
Hypertrichosis cubiti
MacDermot-Patton-Williams syndrome
Hairy elbows syndrome

Associated phenotypes (HPO):
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
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:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000614
hpo_term: Abnormal nasolacrimal system morphology
chpo_term: 鼻泪管系统的异常
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
Disease (ORPHA:280921):
Idiopathic panuveitis

Associated phenotypes (HPO):
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0030652
hpo_term: Vitreous haze
chpo_term: 玻璃体混浊
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0030661
hpo_term: Vitreous snowballs
chpo_term: 雪球状玻璃体
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜