TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2229):
Cardiogenital syndrome
Malouf syndrome
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Najjar syndrome

Associated phenotypes (HPO):
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0100362
hpo_term: Aplasia of the phalanges of the 3rd toe
chpo_term: 第三趾趾骨发育不全
Disease (ORPHA:2228):
Witkop syndrome
Tooth and nail syndrome
Hypodontia-nail dysgenesis syndrome
Hypodontia-dysplasia of nails syndrome

Associated phenotypes (HPO):
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0008402
hpo_term: Ridged fingernail
chpo_term: 指甲纵嵴
id: HP:0012746
hpo_term: Thin toenail
chpo_term: 薄趾甲
Disease (ORPHA:158048):
Hemophagocytic syndrome associated with an infection
Virus-associated hemophagocytic syndrome
VAHS
IAHS

Associated phenotypes (HPO):
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
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:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0012647
hpo_term: Abnormal inflammatory response
chpo_term: 异常炎性反应
id: HP:0025540
hpo_term: Abnormal T cell subset distribution
chpo_term: T细胞亚群分布异常
id: HP:0031406
hpo_term: Abnormal cytokine signaling
chpo_term: 异常细胞因子信号转导
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0032204
hpo_term: Chronic active Epstein-Barr virus infection
chpo_term: 慢性活动性EB病毒感染
id: HP:0040089
hpo_term: Abnormal natural killer cell count
chpo_term: 自然杀伤细胞数量异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002152
hpo_term: Hyperproteinemia
chpo_term: 高蛋白血症
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0020101
hpo_term: Invasive fungal infection
chpo_term: 侵袭性真菌感染
id: HP:0030891
hpo_term: Periventricular white matter hyperintensities
chpo_term: 脑室旁白质高信号
id: HP:0031179
hpo_term: Nuchal rigidity
chpo_term: 颈部僵硬
id: HP:0031692
hpo_term: Severe cytomegalovirus infection
chpo_term: 重症巨细胞病毒感染
id: HP:0032260
hpo_term: Opportunistic bacterial infection
chpo_term: 机会性细菌感染
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0031700
hpo_term: Invasive parasitic infection
chpo_term: 侵袭性寄生虫感染
id: HP:0032256
hpo_term: Histoplasmosis
chpo_term: 组织胞浆菌病
Disease (ORPHA:238606):
Primary orthostatic tremor
POT

Associated phenotypes (HPO):
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:2213):
HMC syndrome
Hypertelorism-microtia-facial clefting syndrome
Bixler-Christian-Gorlin syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0003393
hpo_term: Thenar muscle atrophy
chpo_term: 鱼际肌萎缩
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004736
hpo_term: Crossed fused renal ectopia
chpo_term: 融合肾移向一侧
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
Disease (ORPHA:2211):
Naguib-Richieri-Costa syndrome
Acrofrontofacionasal syndrome type 2
Acrofrontofacionasal dysostosis type 2
Hypertelorism-hypospadias-polysyndactyly syndrome

Associated phenotypes (HPO):
id: HP:0000036
hpo_term: Abnormal penis morphology
chpo_term: 阴茎形态异常
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002536
hpo_term: Abnormal cortical gyration
chpo_term: 脑皮质沟回异常
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0030769
hpo_term: Exencephaly
chpo_term: 露脑畸形
Disease (ORPHA:35687):
Erdheim-Chester disease

Associated phenotypes (HPO):
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:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
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:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001646
hpo_term: Abnormal aortic valve morphology
chpo_term: 主动脉瓣形态异常
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0005200
hpo_term: Retroperitoneal fibrosis
chpo_term: 腹膜后纤维化
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001697
hpo_term: Abnormal pericardium morphology
chpo_term: 心包形态异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
Disease (ORPHA:210272):
Disembarkment syndrome
Sickness of disembarkment
MdDS
MdD
Mal de débarquement

Associated phenotypes (HPO):
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030826
hpo_term: Eyelid fasciculation
chpo_term: 眼睑痉挛
id: HP:0007670
hpo_term: Abnormal vestibulo-ocular reflex
chpo_term: 前庭眼反射异常
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
Disease (ORPHA:370079):
Proximal 16p11.2 microduplication syndrome
Proximal dup(16)(p11.2)
Proximal trisomy 16p11.2

Associated phenotypes (HPO):
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0012751
hpo_term: Abnormal basal ganglia MRI signal intensity
chpo_term: 核磁共振基底节异常信
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0045082
hpo_term: Decreased body mass index
chpo_term: 体重指数下降
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0030800
hpo_term: Abnormal visual accommodation
chpo_term: 视觉调节异常
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0009553
hpo_term: Abnormality of the hairline
chpo_term: 发际线异常
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
Disease (ORPHA:2218):
Cervical hypertrichosis-peripheral neuropathy syndrome

Associated phenotypes (HPO):
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:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0040165
hpo_term: Periostitis
chpo_term: 骨膜炎
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:255182):
Dihydrolipoyl dehydrogenase deficiency
Pyruvate dehydrogenase protein X component deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Glycine cleavage system L protein deficiency
Lipoamide dehydrogenase deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Diaphorase deficiency
2-oxoglutarate complex deficiency

Associated phenotypes (HPO):
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0500231
hpo_term: Abnormal CSF pyruvate family amino acid concentration
chpo_term: 脑脊液丙酮酸家族氨基酸浓度异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002928
hpo_term: Decreased activity of the pyruvate dehydrogenase complex
chpo_term: 丙酮酸脱氢酶（PDH）复合物活性降低
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0010915
hpo_term: Abnormal circulating pyruvate family amino acid concentration
chpo_term: 丙酮酸族氨基酸代谢异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0007109
hpo_term: Periventricular cysts
chpo_term: 脑室周围囊肿
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
Disease (ORPHA:2216):
Maternal hyperthermia-induced birth defects

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:2204):
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Kozlowski-Tsuruta syndrome

Associated phenotypes (HPO):
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002813
hpo_term: Abnormality of limb bone morphology
chpo_term: 四肢骨骼形态异常
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
Disease (ORPHA:2202):
Palmoplantar keratoderma-deafness syndrome
PPK-deafness syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar keratoderma-hearing loss syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
Disease (ORPHA:2201):
Palmoplantar hyperkeratosis-spastic paralysis syndrome
Powell-Venencie-Gordon syndrome
Palmoplantar keratoderma-spastic paralysis syndrome

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010547
hpo_term: Muscle flaccidity
chpo_term: 肌无力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
Disease (ORPHA:2200):
Focal palmoplantar and gingival keratoderma
Focal palmoplantar and gingival hyperkeratosis

Associated phenotypes (HPO):
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000222
hpo_term: Gingival hyperkeratosis
chpo_term: 牙龈角化过度
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0007497
hpo_term: Focal friction-related palmoplantar hyperkeratosis
chpo_term: 摩擦所致的局部掌跖角化
id: HP:0008392
hpo_term: Subungual hyperkeratosis
chpo_term: 甲下角化过度
id: HP:0008399
hpo_term: Circumungual hyperkeratosis
chpo_term: 甲周皮肤角化过度
Disease (ORPHA:488333):
Autosomal dominant Charcot-Marie-Tooth disease type 2W
CMT2W
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation

Associated phenotypes (HPO):
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
Disease (ORPHA:79254):
Classic phenylketonuria
Classic PKU

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0004923
hpo_term: Hyperphenylalaninemia
chpo_term: 高苯丙氨酸血症
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为