TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:330058):
Hydroa vacciniforme

Associated phenotypes (HPO):
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0032381
hpo_term: Hydroa vacciniforme
chpo_term: 牛痘样水疱
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0033700
hpo_term: Papulovesicular eruption
chpo_term: 丘疹疱疹
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0031190
hpo_term: Superficial dermal perivascular inflammatory infiltrate
chpo_term: 真皮浅层血管周围炎性浸润
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
id: HP:0033834
hpo_term: Malaise
chpo_term: 全身乏力不适
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0010473
hpo_term: Porphyrinuria
chpo_term: 卟啉尿症
Disease (ORPHA:73267):
Non-24-hour sleep-wake syndrome
Hypernychthemeral syndrome

Associated phenotypes (HPO):
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0012689
hpo_term: Abnormal pineal melatonin secretion
chpo_term: 松果体褪黑素分泌异常
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
Disease (ORPHA:228371):
Intoxication botulism
Foodborne botulism

Associated phenotypes (HPO):
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
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:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0006543
hpo_term: Cardiorespiratory arrest
chpo_term: 心跳呼吸骤停
id: HP:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:35):
Ketotic hyperglycinemia
Propionyl-CoA carboxylase deficiency
Propionic acidemia
Propionic aciduria

Associated phenotypes (HPO):
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:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001992
hpo_term: Organic aciduria
chpo_term: 有机酸尿症
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003353
hpo_term: Propionyl-CoA carboxylase deficiency
chpo_term: 丙酰辅酶A羧化酶缺乏
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
Disease (ORPHA:36):
ACS
Acrocallosal syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
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:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:37):
Acrodermatitis enteropathica
Inherited zinc deficiency
AEZ
Acrodermatitis enteropathica, zinc deficiency type

Associated phenotypes (HPO):
id: HP:0000157
hpo_term: Abnormality of the tongue
chpo_term: 舌异常
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000221
hpo_term: Furrowed tongue
chpo_term: 沟裂舌
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0001818
hpo_term: Paronychia
chpo_term: 甲沟炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008402
hpo_term: Ridged fingernail
chpo_term: 指甲纵嵴
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:101028):
Transaldolase deficiency
TALDO deficiency

Associated phenotypes (HPO):
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0010903
hpo_term: Abnormal circulating glutamine concentration
chpo_term: 谷氨酰胺代谢异常
id: HP:0012202
hpo_term: Increased serum bile acid concentration
chpo_term: 血清胆汁酸浓度增高
id: HP:0000056
hpo_term: Abnormality of the clitoris
chpo_term: 阴蒂异常
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0200128
hpo_term: Biventricular hypertrophy
chpo_term: 双心室肥厚
Disease (ORPHA:30):
Orotidylic decarboxylase deficiency
Hereditary orotic aciduria
Uridine monophosphate synthetase deficiency

Associated phenotypes (HPO):
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
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:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003218
hpo_term: Oroticaciduria
chpo_term: 乳清酸尿症
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0003526
hpo_term: Orotic acid crystalluria
chpo_term: 乳清酸结晶尿症
id: HP:0011840
hpo_term: Abnormality of T cell physiology
chpo_term: T细胞生理功能异常
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
Disease (ORPHA:31):
Alpha-ketoglutarate dehydrogenase deficiency
Oxoglutaric aciduria

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000816
hpo_term: Abnormality of Krebs cycle metabolism
chpo_term: Krebs循环代谢异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010286
hpo_term: Abnormal salivary gland morphology
chpo_term: 唾液腺形态异常
id: HP:0012401
hpo_term: Abnormal urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸盐浓度异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:32):
Glutathione synthetase deficiency
Pyroglutamicaciduria

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001996
hpo_term: Chronic metabolic acidosis
chpo_term: 慢性代谢性酸中毒
id: HP:0003343
hpo_term: Reduced glutathione synthetase level
chpo_term: 谷胱甘肽合成酶缺乏症
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
Disease (ORPHA:101023):
Cleft hard palate

Associated phenotypes (HPO):
id: HP:0000163
hpo_term: Abnormal oral cavity morphology
chpo_term: 口腔形态异常
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
Disease (ORPHA:33):
Isovaleric acidemia
Isovaleric acid CoA dehydrogenase deficiency

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0031962
hpo_term: Elevated serum anion gap
chpo_term: 血清阴离子间隙升高
id: HP:0033111
hpo_term: 3-hydroxyisovaleric aciduria
chpo_term: 3-羟基异戊酸尿
id: HP:0033447
hpo_term: Elevated circulating isovalerylcarnitine concentration
chpo_term: 循环中异戊酰肉碱浓度升高
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001735
hpo_term: Acute pancreatitis
chpo_term: 急性胰腺炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0002453
hpo_term: Abnormal globus pallidus morphology
chpo_term: 苍白球形态异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
Disease (ORPHA:97230):
Solar urticaria

Associated phenotypes (HPO):
id: HP:0000159
hpo_term: Abnormal lip morphology
chpo_term: 唇形态异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0030809
hpo_term: Abnormal tongue morphology
chpo_term: 舌头形态异常
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0100326
hpo_term: Immunologic hypersensitivity
chpo_term: 免疫过敏
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0011971
hpo_term: Dermatographic urticaria
chpo_term: 皮肤划痕症
id: HP:0100845
hpo_term: Anaphylactic shock
chpo_term: 过敏性休克
Disease (ORPHA:178464):
Myofibrillar myopathy-titinopathy
HMERF
Myofibrillar myopathy with early respiratory failure
Hereditary myopathy with early respiratory failure
MFM-titinopathy
Edström Myopathy
HIBM-ERF
Hereditary inclusion body myopathy with early respiratory failure

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002792
hpo_term: Reduced vital capacity
chpo_term: 肺活量减少
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003555
hpo_term: Muscle fiber splitting
chpo_term: 肌纤维分裂
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0008978
hpo_term: Necrotizing myopathy
chpo_term: 坏死性肌病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0031237
hpo_term: Internally nucleated skeletal muscle fibers
chpo_term: 骨骼肌纤维中细胞核内聚
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0008963
hpo_term: Tibialis muscle weakness
chpo_term: 胫骨肌无力
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0100293
hpo_term: Hypertrophied muscle fibers
chpo_term: 肥大的肌纤维
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
Disease (ORPHA:38):
AKE
Punctate palmoplantar hyperkeratosis type 3
Acrokeratoelastoidosis of Costa
Punctate palmoplantar keratoderma type 3
PPKP3

Associated phenotypes (HPO):
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0025167
hpo_term: Fragmented elastic fibers in the dermis
chpo_term: 真皮弹性纤维碎裂
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0002955
hpo_term: Granulomatosis
chpo_term: 肉芽肿病
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0025507
hpo_term: Yellow papule
chpo_term: 黄色丘疹
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0006089
hpo_term: Palmar hyperhidrosis
chpo_term: 出汗不良性湿疹
id: HP:0025509
hpo_term: Piezogenic pedal papules
chpo_term: 压迫性足部丘疹
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
Disease (ORPHA:101029):
Sub-cortical nodular heterotopia

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002538
hpo_term: Abnormal cerebral cortex morphology
chpo_term: 大脑皮层形态异常
id: HP:0032391
hpo_term: Subcortical heterotopia
chpo_term: 皮层下异位症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002699
hpo_term: Abnormal foramen magnum morphology
chpo_term: 枕骨大孔形态异常
id: HP:0010843
hpo_term: EEG with focal slow activity
chpo_term: 脑电图局灶性慢活动
id: HP:0011193
hpo_term: EEG with focal spikes
chpo_term: 脑电图，局灶性棘波
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
Disease (ORPHA:171829):
6q16 microdeletion syndrome
Prader-Willi-like syndrome due to microdeletion 6q16
Monosomy 6q16
Del(6)(q16)

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0025160
hpo_term: Abnormal temper tantrums
chpo_term: 异常发脾气
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0031703
hpo_term: Abnormal ear morphology
chpo_term: 耳形态异常
Disease (ORPHA:330064):
Actinic reticuloid
Chronic actinic dermatitis
Chronic photosensitivity dermatitis

Associated phenotypes (HPO):
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0007505
hpo_term: Progressive hyperpigmentation
chpo_term: 进行性色素沉着
id: HP:0007573
hpo_term: Late onset atopic dermatitis
chpo_term: 迟发型过敏性皮炎
id: HP:0025127
hpo_term: Actinic keratosis
chpo_term: 光化性角化病
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
Disease (ORPHA:99885):
Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy

Associated phenotypes (HPO):
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0005750
hpo_term: Lower-limb joint contracture
chpo_term: 下肢关节挛缩
id: HP:0012594
hpo_term: Moderate albuminuria
chpo_term: 微量白蛋白尿
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0010935
hpo_term: Abnormality of the upper urinary tract
chpo_term: 上尿路异常
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0000857
hpo_term: Neonatal insulin-dependent diabetes mellitus
chpo_term: 新生儿胰岛素依赖性糖尿病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0006274
hpo_term: Reduced pancreatic beta cells
chpo_term: 胰腺β细胞减少
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作