TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:309256):
MLD, late infantile form
Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form

Associated phenotypes (HPO):
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0007133
hpo_term: Progressive peripheral neuropathy
chpo_term: 进行性周围神经病
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030081
hpo_term: Punctate periventricular T2 hyperintense foci
chpo_term: 脑室周围白质点状T2高信号灶
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0025013
hpo_term: Decerebrate rigidity
chpo_term: 去大脑僵直
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
Disease (ORPHA:157798):
Hyperplastic polyposis syndrome
Serrated polyposis syndrome

Associated phenotypes (HPO):
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0100808
hpo_term: Gastric diverticulum
chpo_term: 胃憩室
id: HP:0100834
hpo_term: Neoplasm of the large intestine
chpo_term: 大肠新生物
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0002862
hpo_term: Bladder carcinoma
chpo_term: 膀胱癌
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0006725
hpo_term: Pancreatic adenocarcinoma
chpo_term: 胰腺腺癌
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0100008
hpo_term: Schwannoma
chpo_term: 神经鞘瘤
id: HP:0100574
hpo_term: Biliary tract neoplasm
chpo_term: 胆管新生物
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0100728
hpo_term: Germ cell neoplasia
chpo_term: 生殖细胞瘤
Disease (ORPHA:254857):
LIMM
LIMD
Lethal infantile mitochondrial disease
Lethal infantile mitochondrial myopathy

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0004900
hpo_term: Severe lactic acidosis
chpo_term: 重度乳酸酸中毒
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0006583
hpo_term: Fatal liver failure in infancy
chpo_term: 婴儿期致命性肝功能衰竭
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
Disease (ORPHA:2091):
Multinodular goiter-cystic kidney-polydactyly syndrome
Daneman-Davy-Mancer syndrome
Thyroid-renal-digital anomalies

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
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:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0005987
hpo_term: Multinodular goiter
chpo_term: 多结节性甲状腺肿
Disease (ORPHA:2090):
GMS syndrome
Goniodysgenesis-intellectual disability-short stature syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000558
hpo_term: Rieger anomaly
chpo_term: Rieger综合征
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
Disease (ORPHA:157794):
HMPS
Hereditary mixed polyposis syndrome

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0012183
hpo_term: Hyperplastic colonic polyposis
chpo_term: 增生性结肠息肉病
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0005505
hpo_term: Refractory anemia
chpo_term: 难治性贫血
id: HP:0007378
hpo_term: Neoplasm of the gastrointestinal tract
chpo_term: 胃肠道新生物
id: HP:0012198
hpo_term: Juvenile colonic polyposis
chpo_term: 幼年性结肠息肉病
id: HP:0100896
hpo_term: Rectal polyposis
chpo_term: 直肠息肉病
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0002576
hpo_term: Intussusception
chpo_term: 肠套叠
id: HP:0040276
hpo_term: Adenocarcinoma of the colon
chpo_term: 结肠腺癌
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0002890
hpo_term: Thyroid carcinoma
chpo_term: 甲状腺癌
id: HP:0006771
hpo_term: Duodenal adenocarcinoma
chpo_term: 十二指肠腺癌
id: HP:0012114
hpo_term: Endometrial carcinoma
chpo_term: 子宫内膜癌
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
id: HP:0100245
hpo_term: Desmoid tumors
chpo_term: 硬性纤维瘤
Disease (ORPHA:509):
Leptospirosis

Associated phenotypes (HPO):
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:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002152
hpo_term: Hyperproteinemia
chpo_term: 高蛋白血症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0008150
hpo_term: Elevated serum transaminases during infections
chpo_term: 感染期血清转氨酶升高
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0031197
hpo_term: Cellular urinary casts
chpo_term: 细胞管型
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011896
hpo_term: Subconjunctival hemorrhage
chpo_term: 结膜下出血
id: HP:0012424
hpo_term: Chorioretinitis
chpo_term: 脉络膜视网膜炎
id: HP:0030497
hpo_term: Macular cotton wool spot
chpo_term: 黄斑棉绒斑
id: HP:0100653
hpo_term: Optic neuritis
chpo_term: 视神经炎
Disease (ORPHA:508):
Donohue syndrome
Leprechaunism

Associated phenotypes (HPO):
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011998
hpo_term: Postprandial hyperglycemia
chpo_term: 餐后高血糖
id: HP:0000040
hpo_term: Long penis
chpo_term: 长阴茎
id: HP:0000065
hpo_term: Labial hypertrophy
chpo_term: 阴唇肥厚
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0002219
hpo_term: Facial hypertrichosis
chpo_term: 面部多毛症（先天性）
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003247
hpo_term: Overgrowth of external genitalia
chpo_term: 外生殖器过度生长
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0004405
hpo_term: Prominent nipples
chpo_term: 乳头凸出
id: HP:0004914
hpo_term: Recurrent infantile hypoglycemia
chpo_term: 婴儿反复发作性低血糖
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000848
hpo_term: Increased circulating renin level
chpo_term: 血肾素水平升高
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011787
hpo_term: Central hypothyroidism
chpo_term: 中枢性甲状腺功能减退症
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0025024
hpo_term: Megarectum
chpo_term: 巨直肠
id: HP:0100879
hpo_term: Enlarged ovaries
chpo_term: 卵巢增大
Disease (ORPHA:2098):
Chondrodysplasia, Grebe type
Acromesomelic dysplasia, Grebe type

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0005914
hpo_term: Aplasia/Hypoplasia involving the metacarpal bones
chpo_term: 掌骨发育不全或发育低下
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
id: HP:0100387
hpo_term: Aplasia of the middle phalanges of the toes
chpo_term: 中节趾骨发育不全
Disease (ORPHA:505):
Graham Little-Piccardi-Lassueur syndrome
Graham Little syndrome
Piccardi-Lassueur-Little syndrome

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0007468
hpo_term: Perifollicular hyperkeratosis
chpo_term: 毛周角化症
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
Disease (ORPHA:507):
Leishmaniasis

Associated phenotypes (HPO):
id: HP:0000163
hpo_term: Abnormal oral cavity morphology
chpo_term: 口腔形态异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0004311
hpo_term: Abnormal macrophage morphology
chpo_term: 巨噬细胞形态异常
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
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:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:314603):
Autosomal recessive spastic ataxia type 3
Autosomal recessive spastic ataxia with leukoencephalopathy
ARSAL
SPAX3

Associated phenotypes (HPO):
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
Disease (ORPHA:501):
Progressive myoclonus epilepsy type 2
PME type 2
Progressive myoclonic epilepsy type 2
EPM2
Lafora disease

Associated phenotypes (HPO):
id: HP:0100318
hpo_term: Lafora bodies
chpo_term: 小体
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001312
hpo_term: Giant somatosensory evoked potentials
chpo_term: 巨大的体感诱发电位
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0025357
hpo_term: Erratic myoclonus
chpo_term: 不规则肌阵挛
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0007537
hpo_term: Severe photosensitivity
chpo_term: 重度光敏性
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0011165
hpo_term: Focal sensory seizure with visual features
chpo_term: 伴有视觉特征的局灶性感觉发作
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
Disease (ORPHA:503):
Larsen syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004232
hpo_term: Accessory carpal bones
chpo_term: 副腕骨
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005008
hpo_term: Large joint dislocations
chpo_term: 大关节脱位
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
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:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008755
hpo_term: Laryngotracheomalacia
chpo_term: 喉气管软化
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
Disease (ORPHA:502):
Langer-Giedion syndrome
Trichorhinophalangeal syndrome type 2

Associated phenotypes (HPO):
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005039
hpo_term: Multiple long-bone exostoses
chpo_term: 多发性长骨外生骨疣
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0100777
hpo_term: Exostoses
chpo_term: 外生骨疣
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0009118
hpo_term: Aplasia/Hypoplasia of the mandible
chpo_term: 下颌骨发育不良/发育不全
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常