TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:95713):
Athyreosis

Associated phenotypes (HPO):
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0008191
hpo_term: Thyroid agenesis
chpo_term: 甲状腺缺如
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025483
hpo_term: Abnormal circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平异常
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008282
hpo_term: Unconjugated hyperbilirubinemia
chpo_term: 高非结合胆红素血症
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0033850
hpo_term: Coldness
chpo_term: 寒冷
Disease (ORPHA:1344):
Atrial cardiomyopathy with heart block
Atrial standstill
Isolated atrial standstill

Associated phenotypes (HPO):
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0005155
hpo_term: Ventricular escape rhythm
chpo_term: 室性逸搏心律
id: HP:0025478
hpo_term: Atrial standstill
chpo_term: 心房静止
id: HP:0031546
hpo_term: Cardiac conduction abnormality
chpo_term: 心脏传导异常
id: HP:0031595
hpo_term: Abnormal P wave
chpo_term: 异常P波
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011704
hpo_term: Sick sinus syndrome
chpo_term: 病窦综合征
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0030682
hpo_term: Left ventricular noncompaction
chpo_term: 左心室心肌致密化不全
id: HP:0030973
hpo_term: Postexertional symptom exacerbation
chpo_term: 活动后症状加重
id: HP:0410174
hpo_term: Increased circulating troponin T concentration
chpo_term: 循环肌钙蛋白T浓度升高
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0011707
hpo_term: Mobitz I atrioventricular block
chpo_term: 默比茨I型房室传导阻滞
Disease (ORPHA:91359):
Chronic pneumonitis of infancy
CPI

Associated phenotypes (HPO):
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002207
hpo_term: Diffuse reticular or finely nodular infiltrations
chpo_term: 弥漫性网状或细结节状浸润
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0030864
hpo_term: Intercostal retractions
chpo_term: 肋间隙回缩
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
Disease (ORPHA:95719):
Thyroid hemiagenesis

Associated phenotypes (HPO):
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0008191
hpo_term: Thyroid agenesis
chpo_term: 甲状腺缺如
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0000854
hpo_term: Thyroid adenoma
chpo_term: 甲状腺腺瘤
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
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:0025388
hpo_term: Thyroid nodule
chpo_term: 甲状腺结节
id: HP:0032069
hpo_term: Anti-thyroglobulin antibody positivity
chpo_term: 抗甲状腺球蛋白抗体阳性
id: HP:0000843
hpo_term: Hyperparathyroidism
chpo_term: 甲状旁腺功能亢进症
id: HP:0002895
hpo_term: Papillary thyroid carcinoma
chpo_term: 甲状腺乳头状癌
id: HP:0100647
hpo_term: Graves disease
chpo_term: Graves病
id: HP:0002865
hpo_term: Medullary thyroid carcinoma
chpo_term: 甲状腺髓样癌
id: HP:0006731
hpo_term: Follicular thyroid carcinoma
chpo_term: 甲状腺滤泡癌
id: HP:0011780
hpo_term: Thyroid hemiagenesis
chpo_term: 甲状腺偏侧缺如症
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
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
Disease (ORPHA:95717):
Idiopathic congenital hypothyroidism

Associated phenotypes (HPO):
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008828
hpo_term: Delayed proximal femoral epiphyseal ossification
chpo_term: 股骨近端骨骺骨化延迟
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011437
hpo_term: Maternal autoimmune disease
chpo_term: 母体自身免疫性疾病
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0031219
hpo_term: Reduced radioactive iodine uptake
chpo_term: 放射性碘摄取减少
id: HP:0031220
hpo_term: Increased radioactive iodine uptake
chpo_term: 放射性碘摄取增多
Disease (ORPHA:91350):
Pituitary deficiency due to Rathke cleft cysts

Associated phenotypes (HPO):
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0012505
hpo_term: Enlarged pituitary gland
chpo_term: 垂体增大
id: HP:0030521
hpo_term: Bitemporal hemianopia
chpo_term: 双颞侧偏盲
id: HP:0030591
hpo_term: Abnormal kinetic perimetry test
chpo_term: 动态视野检查异常
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:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0007807
hpo_term: Optic nerve compression
chpo_term: 视神经受压
id: HP:0008240
hpo_term: Secondary growth hormone deficiency
chpo_term: 继发性生长激素缺乏症
id: HP:0011735
hpo_term: Adrenocorticotropin deficient adrenal insufficiency
chpo_term: 促肾上腺皮质激素缺陷性肾上腺功能不全
id: HP:0012246
hpo_term: Oculomotor nerve palsy
chpo_term: 动眼神经麻痹
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0030907
hpo_term: Thunderclap headache
chpo_term: 霹雳性头痛
id: HP:0430022
hpo_term: Abnormality of the sphenoid sinus
chpo_term: 蝶窦异常
Disease (ORPHA:2670):
Microcoria-congenital nephrosis syndrome
Pierson syndrome

Associated phenotypes (HPO):
id: HP:0001967
hpo_term: Diffuse mesangial sclerosis
chpo_term: 弥漫性肾小球系膜硬化
id: HP:0008677
hpo_term: Congenital nephrotic syndrome
chpo_term: 先天性肾病综合征
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001104
hpo_term: Macular hypoplasia
chpo_term: 黄斑发育不良
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0025492
hpo_term: Microcoria
chpo_term: 小瞳孔
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0007968
hpo_term: Remnants of the hyaloid vascular system
chpo_term: 玻璃体血管系统残留
id: HP:0034375
hpo_term: Spherophakia
chpo_term: 球形晶状体
Disease (ORPHA:2672):
Recurrent encephalophathy of childhood
Neuhauser-Eichner-Opitz syndrome

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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
Disease (ORPHA:2673):
Freire Maia-Pinheiro-Opitz syndrome
Neurofaciodigitorenal syndrome

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0009896
hpo_term: Abnormal antitragus morphology
chpo_term: 对耳屏形态异常
id: HP:0009912
hpo_term: Abnormal tragus morphology
chpo_term: 耳屏形态异常
id: HP:0010650
hpo_term: Hypoplasia of the premaxilla
chpo_term: 前颌骨发育不良
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000288
hpo_term: Abnormality of the philtrum
chpo_term: 人中异常
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0009832
hpo_term: Abnormal distal phalanx morphology of finger
chpo_term: 末节指骨形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:91351):
Pituitary dermoid and epidermoid cysts

Associated phenotypes (HPO):
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0011750
hpo_term: Neoplasm of the anterior pituitary
chpo_term: 垂体前叶肿瘤
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0002331
hpo_term: Recurrent paroxysmal headache
chpo_term: 反复发作性头痛
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0010514
hpo_term: Hyperpituitarism
chpo_term: 垂体功能亢进症
id: HP:0012505
hpo_term: Enlarged pituitary gland
chpo_term: 垂体增大
id: HP:0030907
hpo_term: Thunderclap headache
chpo_term: 霹雳性头痛
id: HP:0100829
hpo_term: Galactorrhea
chpo_term: 溢乳
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0011442
hpo_term: Abnormal central motor function
chpo_term: 中枢性运动功能异常
id: HP:0011730
hpo_term: Abnormal central sensory function
chpo_term: 中枢感觉功能异常
id: HP:0001117
hpo_term: Sudden loss of visual acuity
chpo_term: 突发性视力丧失
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
Disease (ORPHA:91354):
Pituitary deficiency due to empty sella turcica syndrome
Hypopituitarism due to empty sella turcica syndrome

Associated phenotypes (HPO):
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0030532
hpo_term: Visual acuity test abnormality
chpo_term: 视力测试异常
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
Disease (ORPHA:90023):
Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency
Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Primary immunodeficiency syndrome due to P14 deficiency

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0006538
hpo_term: Recurrent bronchopulmonary infections
chpo_term: 反复支气管肺感染
id: HP:0007443
hpo_term: Partial albinism
chpo_term: 白点病；斑驳病；斑状白斑病；斑状白癜风；斑状白化病；
Disease (ORPHA:95712):
Thyroid ectopia

Associated phenotypes (HPO):
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:6000855
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0100028
hpo_term: Ectopic thyroid
chpo_term: 异位甲状腺
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0100029
hpo_term: Lingual thyroid
chpo_term: 舌部甲状腺
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:1349):
Mitochondrial DNA-related cardiomyopathy and hearing loss
mtDNA-related cardiomyopathy and hearing loss
Maternally-inherited cardiomyopathy and deafness
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
mtDNA-related cardiomyopathy and deafness

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0009126
hpo_term: Increased adipose tissue
chpo_term: 脂肪组织增多
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:90024):
LAMM syndrome
Hearing loss with labyrinthine aplasia, microtia, and microdontia
Microdontia-type I microtia-deafness syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Microdontia-type I microtia-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
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:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0011372
hpo_term: Aplasia of the inner ear
chpo_term: 内耳不发育