TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:444490):
Familial chylomicronemia syndrome

Associated phenotypes (HPO):
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0012238
hpo_term: Increased circulating chylomicron concentration
chpo_term: 高乳糜微粒血症
id: HP:0000660
hpo_term: Lipemia retinalis
chpo_term: 视网膜脂血症
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001735
hpo_term: Acute pancreatitis
chpo_term: 急性胰腺炎
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0100027
hpo_term: Recurrent pancreatitis
chpo_term: 复发性胰腺炎
id: HP:0001013
hpo_term: Eruptive xanthomas
chpo_term: 发疹性黄瘤
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0009789
hpo_term: Perianal abscess
chpo_term: 肛周脓肿
id: HP:0100851
hpo_term: Abnormal emotion/affect behavior
chpo_term: 异常情绪/情感行为
id: HP:0004416
hpo_term: Precocious atherosclerosis
chpo_term: 早发性动脉粥样硬化
Disease (ORPHA:411590):
Wolfram-like syndrome

Associated phenotypes (HPO):
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0010935
hpo_term: Abnormality of the upper urinary tract
chpo_term: 上尿路异常
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
Disease (ORPHA:411593):
Insulin autoimmune syndrome
Hirata disease

Associated phenotypes (HPO):
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001958
hpo_term: Nonketotic hypoglycemia
chpo_term: 非酮症性低血糖
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0005059
hpo_term: Arthralgia/arthritis
chpo_term: 关节痛/关节炎
id: HP:0012051
hpo_term: Reactive hypoglycemia
chpo_term: 反应性低血糖
Disease (ORPHA:2347):
Lethal Kniest-like dysplasia

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000907
hpo_term: Anterior rib cupping
chpo_term: 杯状前肋
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002763
hpo_term: Abnormal cartilage morphology
chpo_term: 软骨形态异常
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003174
hpo_term: Abnormality of the ischium
chpo_term: 坐骨异常
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0005026
hpo_term: Mesomelic/rhizomelic limb shortening
chpo_term: 肢体中部/根部短缩
id: HP:0005622
hpo_term: Broad long bones
chpo_term: 长骨增宽
id: HP:0008178
hpo_term: Abnormal cartilage matrix
chpo_term: 软骨基质异常
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
id: HP:0008890
hpo_term: Severe short-limb dwarfism
chpo_term: 严重的短肢侏儒症
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
Disease (ORPHA:64741):
Pulmonary blastoma
Pneumoblastoma

Associated phenotypes (HPO):
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:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100528
hpo_term: Pleuropulmonary blastoma
chpo_term: 胸膜肺母细胞瘤
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:1014):
Devriendt-Vandenberghe-Fryns syndrome
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Associated phenotypes (HPO):
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:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
Disease (ORPHA:2345):
Congenital fused cervical segments
Klippel-Feil sequence
Congenital cervical vertebral fusion
Klippel-Feil malformation
Isolated Klippel-Feil syndrome

Associated phenotypes (HPO):
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0004602
hpo_term: Cervical C2/C3 vertebral fusion
chpo_term: 颈C2/C3椎体融合
id: HP:0005640
hpo_term: Abnormal vertebral segmentation and fusion
chpo_term: 椎体分节和融合异常
id: HP:0005986
hpo_term: Limitation of neck motion
chpo_term: 颈部活动受限
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0005988
hpo_term: Congenital muscular torticollis
chpo_term: 先天性肌性斜颈
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0005107
hpo_term: Abnormal sacrum morphology
chpo_term: 骶骨形态异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0034980
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:64743):
Obliterative portal venopathy
Hepatoportal sclerosis

Associated phenotypes (HPO):
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0030146
hpo_term: Abnormal liver parenchyma morphology
chpo_term: 肝实质形态异常
id: HP:0030169
hpo_term: Gastric varix
chpo_term: 胃静脉曲张
id: HP:0031015
hpo_term: Intrahepatic portal vein sclerosis
chpo_term: 肝内门静脉硬化
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001405
hpo_term: Periportal fibrosis
chpo_term: 门静脉周围纤维化
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0011954
hpo_term: Nodular regenerative hyperplasia of liver
chpo_term: 肝脏结节性再生性增生
id: HP:0020136
hpo_term: Anticardiolipin IgG antibody positivity
chpo_term: 抗心磷脂IgG抗体阳性
id: HP:0020137
hpo_term: Anticardiolipin IgM antibody positivity
chpo_term: 抗心磷脂IgM抗体阳性
id: HP:0030242
hpo_term: Portal vein thrombosis
chpo_term: 门静脉血栓形成
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0003262
hpo_term: Smooth muscle antibody positivity
chpo_term: 平滑肌抗体阳性
id: HP:0006707
hpo_term: Abnormality of the hepatic vasculature
chpo_term: 肝脏血管异常
Disease (ORPHA:64744):
IgG4-related thyroid disease
Riedel thyroiditis
Riedel disease

Associated phenotypes (HPO):
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
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:0032069
hpo_term: Anti-thyroglobulin antibody positivity
chpo_term: 抗甲状腺球蛋白抗体阳性
id: HP:0032300
hpo_term: Increased circulating IgG4 level
chpo_term: 血液IgG4增多
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0005994
hpo_term: Nodular goiter
chpo_term: 结节性甲状腺肿
id: HP:0009798
hpo_term: Euthyroid goiter
chpo_term: 甲状腺功能正常的甲状腺肿
id: HP:0100647
hpo_term: Graves disease
chpo_term: Graves病
id: HP:0005200
hpo_term: Retroperitoneal fibrosis
chpo_term: 腹膜后纤维化
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:0012503
hpo_term: Abnormality of the pituitary gland
chpo_term: 垂体异常
id: HP:0030991
hpo_term: Sclerosing cholangitis
chpo_term: 硬化性胆管炎
id: HP:0031281
hpo_term: Sialadenitis
chpo_term: 涎腺炎
id: HP:0032039
hpo_term: Abnormality of the ocular adnexa
chpo_term: 眼附件异常
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0100732
hpo_term: Pancreatic fibrosis
chpo_term: 胰腺纤维化
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
Disease (ORPHA:64745):
Polymorphic eruption of pregnancy
Pruritic urticarial papules and plaques of pregnancy
PUPPP

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0030351
hpo_term: Urticarial plaque
chpo_term: 荨麻疹性斑块
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0030898
hpo_term: Pruritis on abdomen
chpo_term: 腹部瘙痒
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0030899
hpo_term: Pruritis on hand
chpo_term: 手部瘙痒
id: HP:0030900
hpo_term: Pruritus on foot
chpo_term: 足部瘙痒
id: HP:0031248
hpo_term: Palmar pruritus
chpo_term: 手掌瘙痒症
id: HP:0031538
hpo_term: Abnormal dermoepidermal junction morphology
chpo_term: 皮肤表皮连接处形态异常
id: HP:0100872
hpo_term: Abnormality of the plantar skin of foot
chpo_term: 跖部皮肤异常
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0025493
hpo_term: Palmoplantar erythema
chpo_term: 掌跖红斑
id: HP:0030901
hpo_term: Pruritis on breast
chpo_term: 乳房瘙痒
id: HP:0031540
hpo_term: Linear IgG deposits along the epidermal basement membrane zone
chpo_term: 表皮基底膜带的线性lgG沉积
id: HP:0031541
hpo_term: Linear C3 deposits along the epidermal basement membrane zone
chpo_term: 表皮基底膜带的线性C3沉积
Disease (ORPHA:2342):
Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Haim-Munk syndrome
Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome

Associated phenotypes (HPO):
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0001870
hpo_term: Acroosteolysis of distal phalanges (feet)
chpo_term: 远节趾骨肢端溶骨
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001803
hpo_term: Nail pits
chpo_term: 甲凹点
id: HP:0005830
hpo_term: Flexion contracture of toe
chpo_term: 脚趾屈曲挛缩
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0410027
hpo_term: Alveolar bone loss around teeth
chpo_term: 牙周的牙槽骨萎缩
Disease (ORPHA:276556):
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
Hyperinsulinism due to UCP2 deficiency

Associated phenotypes (HPO):
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0012051
hpo_term: Reactive hypoglycemia
chpo_term: 反应性低血糖
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: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: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:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
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:0031224
hpo_term: Diffuse pancreatic islet hyperplasia
chpo_term: 弥漫性胰岛增生
Disease (ORPHA:1010):
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
Autosomal dominant palmoplantar keratoderma and congenital alopecia
PPK-CA, Stevanovic type

Associated phenotypes (HPO):
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0004528
hpo_term: Generalized hypotrichosis
chpo_term: 泛发性少毛症
id: HP:0010491
hpo_term: Digital constriction ring
chpo_term: 指趾缩窄环
id: HP:0011838
hpo_term: Sclerodactyly
chpo_term: 指硬皮病
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002298
hpo_term: Absent hair
chpo_term: 毛发缺失
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0009900
hpo_term: Unilateral deafness
chpo_term: 单侧耳聋
id: HP:0031057
hpo_term: Skin fissure
chpo_term: 皮肤裂痕
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:2340):
Keratosis follicularis spinulosa decalvans

Associated phenotypes (HPO):
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0002287
hpo_term: Progressive alopecia
chpo_term: 进行性脱发
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0025084
hpo_term: Folliculitis
chpo_term: 毛囊炎
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
Disease (ORPHA:98976):
Buphthalmus
Buphthalmia
Primary congenital glaucoma
Congenital glaucoma
Buphthalmos

Associated phenotypes (HPO):
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0001089
hpo_term: Iris atrophy
chpo_term: 虹膜萎缩
id: HP:0007765
hpo_term: Deep anterior chamber
chpo_term: 深前房
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0011490
hpo_term: Abnormal Descemet membrane morphology
chpo_term: 角膜后弹力层形态异常
id: HP:0025751
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0012803
hpo_term: Anisometropia
chpo_term: 屈光参差
id: HP:0100693
hpo_term: Iridodonesis
chpo_term: 虹膜震颤
Disease (ORPHA:98977):
Juvenile glaucoma

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000525
hpo_term: Abnormality iris morphology
chpo_term: 虹膜形态异常
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0007854
hpo_term: Glaucomatous visual field defect
chpo_term: 青光眼性视野缺损
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0012108
hpo_term: Open angle glaucoma
chpo_term: 开角型青光眼
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012511
hpo_term: Temporal optic disc pallor
chpo_term: 颞侧视盘苍白
id: HP:0012796
hpo_term: Increased cup-to-disc ratio
chpo_term: 杯盘比增大
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0012636
hpo_term: Retinal vein occlusion
chpo_term: 视网膜静脉阻塞
id: HP:0025326
hpo_term: Retinal arterial occlusion
chpo_term: 视网膜动脉阻塞
Disease (ORPHA:98973):
Posterior polymorphous corneal dystrophy
PPCD
Schlichting dystrophy
Posterior polymorphous dystrophy

Associated phenotypes (HPO):
id: HP:0011490
hpo_term: Abnormal Descemet membrane morphology
chpo_term: 角膜后弹力层形态异常
id: HP:0011491
hpo_term: Reduced number of corneal endothelial cells
chpo_term: 角膜内皮细胞的数目减少
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0025358
hpo_term: Uveal ectropion
chpo_term: 葡萄膜外翻
id: HP:0032122
hpo_term: Very low visual acuity
chpo_term: 视力极低
id: HP:0100692
hpo_term: Increased corneal curvature
chpo_term: 角膜曲率偏高
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
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:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0200065
hpo_term: Chorioretinal degeneration
chpo_term: 脉络膜视网膜变性