TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:352540):
Oncogenic osteomalacia
Tumor-induced osteomalacia
TIO
Oncogenic hypophosphatemic osteomalacia

Associated phenotypes (HPO):
id: HP:0000117
hpo_term: Renal phosphate wasting
chpo_term: 肾源性磷酸盐流失
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0010622
hpo_term: Neoplasm of the skeletal system
chpo_term: 骨骼系统肿瘤
id: HP:0012052
hpo_term: Low serum calcitriol
chpo_term: 低血清骨化三醇（1,25-二羟基胆钙化醇）
id: HP:6000489
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001850
hpo_term: Abnormality of the tarsal bones
chpo_term: 跗骨异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0010734
hpo_term: Fibrous dysplasia of the bones
chpo_term: 骨纤维发育不良
id: HP:0011847
hpo_term: Giant cell tumor of bone
chpo_term: 骨巨细胞瘤
id: HP:0012288
hpo_term: Neoplasm of head and neck
chpo_term: 头颈部肿瘤
id: HP:0040163
hpo_term: Abnormal pelvis bone morphology
chpo_term: 盆骨形态异常
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0030731
hpo_term: Carcinoma
chpo_term: 癌
Disease (ORPHA:1221):
Cheilitis glandularis

Associated phenotypes (HPO):
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0010286
hpo_term: Abnormal salivary gland morphology
chpo_term: 唾液腺形态异常
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
Disease (ORPHA:2552):
Microsporidiosis

Associated phenotypes (HPO):
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0011277
hpo_term: Abnormality of the urinary system physiology
chpo_term: 泌尿系统生理异常
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0012387
hpo_term: Bronchitis
chpo_term: 支气管炎
id: HP:0000024
hpo_term: Prostatitis
chpo_term: 前列腺炎
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000828
hpo_term: Abnormality of the parathyroid gland
chpo_term: 甲状旁腺异常
id: HP:0000849
hpo_term: Adrenocortical abnormality
chpo_term: 肾上腺皮质异常
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0001096
hpo_term: Keratoconjunctivitis
chpo_term: 角膜结膜炎
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002778
hpo_term: Abnormal tracheal morphology
chpo_term: 气管形态异常
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0008777
hpo_term: Abnormal vocal cord morphology
chpo_term: 声带形态异常
id: HP:0011027
hpo_term: Abnormal fallopian tube morphology
chpo_term: 输卵管形态异常
id: HP:0011950
hpo_term: Bronchiolitis
chpo_term: 细支气管炎
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0030049
hpo_term: Brain abscess
chpo_term: 脑脓肿
id: HP:0030126
hpo_term: Abnormal endometrium morphology
chpo_term: 子宫内膜形态异常
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0500006
hpo_term: Urethritis
chpo_term: 尿道炎
Disease (ORPHA:1229):
Baraitser-Brett-Piesowicz syndrome
Bilateral band-like calcification with polymicrogyria
Baraitser-Reardon syndrome
Congenital intrauterine infection-like syndrome
Pseudo-TORCH syndrome
BLC-PMG
Microcephaly-intracranial calcification-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:1228):
Banki syndrome

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
Disease (ORPHA:2554):
Meier-Gorlin syndrome
Ear-patella-short stature syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
id: HP:0009939
hpo_term: Mandibular aplasia
chpo_term: 下颌骨发育不全
id: HP:0011267
hpo_term: Microtia, third degree
chpo_term: 小耳畸形，3级
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000060
hpo_term: Clitoral hypoplasia
chpo_term: 阴蒂发育不良
id: HP:0000064
hpo_term: Hypoplastic labia minora
chpo_term: 小阴唇发育不良
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
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:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
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:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0006660
hpo_term: Aplastic clavicle
chpo_term: 锁骨发育不全
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
Disease (ORPHA:1227):
Bangstad syndrome
Ataxia-diabetes-goiter-gonadal insufficiency syndrome

Associated phenotypes (HPO):
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000828
hpo_term: Abnormality of the parathyroid gland
chpo_term: 甲状旁腺异常
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:1226):
Bamforth syndrome
Bamforth-Lazarus syndrome
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Hypothyroidism-cleft palate syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0008191
hpo_term: Thyroid agenesis
chpo_term: 甲状腺缺如
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
Disease (ORPHA:37748):
Chronic urticaria with macroglobulinemia
Chronic urticaria with gammopathy
Schnitzler syndrome

Associated phenotypes (HPO):
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
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:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:477993):
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0011078
hpo_term: Abnormality of canine
chpo_term: 犬齿异常
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0011832
hpo_term: Narrow nasal tip
chpo_term: 鼻尖狭窄
id: HP:0012081
hpo_term: Enlarged cerebellum
chpo_term: 小脑增大
id: HP:0012430
hpo_term: Cerebral white matter hypoplasia
chpo_term: 脑白质发育不良
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:401923):
9q31.1q31.3 microdeletion syndrome
Monosomy 9q31.1q31.3
Del(9)(q31.1q31.3)

Associated phenotypes (HPO):
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002947
hpo_term: Cervical kyphosis
chpo_term: 颈椎后凸畸形
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011822
hpo_term: Broad chin
chpo_term: 宽下巴
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0100817
hpo_term: Renovascular hypertension
chpo_term: 肾血管性高血压
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:83601):
Steroid-responsive encephalopathy associated with autoimmune thyroiditis
SREAT
Hashimoto encephalitis

Associated phenotypes (HPO):
id: HP:0005318
hpo_term: Cerebral vasculitis
chpo_term: 脑血管炎
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0005991
hpo_term: Limited neck flexion
chpo_term: 颈部屈曲受限
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0006846
hpo_term: Acute encephalopathy
chpo_term: 急性脑病
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
Disease (ORPHA:83600):
Encephalitis lethargica
Von Economo encephalitis

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005986
hpo_term: Limitation of neck motion
chpo_term: 颈部活动受限
id: HP:0007146
hpo_term: Bilateral basal ganglia lesions
chpo_term: 双侧基底节病变
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0012547
hpo_term: Abnormal involuntary eye movements
chpo_term: 不自主眼球运动异常
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0025258
hpo_term: Stiff neck
chpo_term: 颈部僵硬
Disease (ORPHA:530838):
KRT1-related diffuse NEPPK
KRT1-related diffuse nonepidermolytic keratoderma

Associated phenotypes (HPO):
id: HP:0007404
hpo_term: Nonepidermolytic palmoplantar hyperkeratosis
chpo_term: 非表皮松解性掌跖角化症
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001551
hpo_term: Abnormal umbilicus morphology
chpo_term: 脐形态结构异常
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012203
hpo_term: Onychomycosis
chpo_term: 甲癣
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0004690
hpo_term: Thickened Achilles tendon
chpo_term: 跟腱增厚
id: HP:0006203
hpo_term: Decreased movement range in interphalangeal joints
chpo_term: 指间关节活动范围减小
id: HP:0007446
hpo_term: Palmoplantar blistering
chpo_term: 掌跖起泡
id: HP:0025524
hpo_term: Palmoplantar scaling skin
chpo_term: 掌跖鱼鳞样皮损
id: HP:0032523
hpo_term: Tendon thickening
chpo_term: 肌腱增厚
id: HP:0032541
hpo_term: Knuckle pad
chpo_term: 手指关节垫
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
Disease (ORPHA:1214):
Parry-Romberg syndrome
Progressive facial hemiatrophy
Progressive hemifacial atrophy
PHA
Hemifacial atrophy
Romberg syndrome

Associated phenotypes (HPO):
id: HP:0000277
hpo_term: Abnormal mandible morphology
chpo_term: 下颌骨形态异常
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色