TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:221061):
Hereditary cerebral cavernous malformation
Familial cerebral cavernous malformation
Hereditary brain cavernous angioma
Familial cerebral cavernoma
Hereditary cerebral cavernoma
Familial brain cavernous angioma

Associated phenotypes (HPO):
id: HP:0100561
hpo_term: Spinal cord lesion
chpo_term: 脊髓病变
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0009588
hpo_term: Vestibular schwannoma
chpo_term: 前庭神经鞘瘤
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0010512
hpo_term: Adrenal calcification
chpo_term: 肾上腺钙化
id: HP:0033522
hpo_term: Cerebral cavernous malformation
chpo_term: 脑海绵状血管瘤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001048
hpo_term: Cavernous hemangioma
chpo_term: 海绵状血管瘤
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0012748
hpo_term: Focal T2 hyperintense brainstem lesion
chpo_term: 脑干局灶性T2高信号病变
id: HP:0012749
hpo_term: Focal T2 hypointense brainstem lesion
chpo_term: 脑干局灶性T2低信号病变
id: HP:0030430
hpo_term: Neuroma
chpo_term: 神经瘤
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0007872
hpo_term: Choroidal hemangioma
chpo_term: 脉络膜血管瘤
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
id: HP:0011513
hpo_term: Retinal cavernous angioma
chpo_term: 视网膜海绵状血管瘤
id: HP:0012721
hpo_term: Venous malformation
chpo_term: 静脉畸形
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:52901):
Isolated follicle stimulating hormone deficiency
Isolated FSH deficiency

Associated phenotypes (HPO):
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000134
hpo_term: Female hypogonadism
chpo_term: 女性性腺功能减退症
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
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:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
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:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0012569
hpo_term: Delayed menarche
chpo_term: 月经初潮延迟
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0010791
hpo_term: Hyperplasia of the Leydig cells
chpo_term: 睾丸间质细胞增生
id: HP:0012814
hpo_term: Bilateral breast hypoplasia
chpo_term: 双侧乳房发育不良
id: HP:0012864
hpo_term: Abnormal sperm morphology
chpo_term: 精子形态异常
id: HP:0030018
hpo_term: Decreased female libido
chpo_term: 女性性欲降低
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
Disease (ORPHA:3416):
Hyperphosphatasemia tarda
Van Buchem disease
Hyperostosis corticalis generalisata

Associated phenotypes (HPO):
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0004437
hpo_term: Cranial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0005789
hpo_term: Generalized osteosclerosis
chpo_term: 周身性骨硬化
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
Disease (ORPHA:3417):
Van den Bosch syndrome

Associated phenotypes (HPO):
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001139
hpo_term: Choroideremia
chpo_term: 无脉络膜症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0007476
hpo_term: Anhidrotic ectodermal dysplasia
chpo_term: 无汗性外胚层发育不良
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0030203
hpo_term: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
chpo_term: 肌无力对乙酰胆碱酯酶抑制剂的反应不佳
id: HP:0200016
hpo_term: Acrokeratosis
chpo_term: 肢端角化症
Disease (ORPHA:79133):
Focal facial dermal dysplasia 1, Brauer type
Brauer syndrome
Focal facial dermal dysplasia type I
Focal facial dermal dysplasia type 1
Bitemporal aplasia cutis congenita
FFDD1
FFDD type I

Associated phenotypes (HPO):
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0005585
hpo_term: Spotty hyperpigmentation
chpo_term: 点滴状色素沉着
id: HP:0005590
hpo_term: Spotty hypopigmentation
chpo_term: 点滴状色素减退
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009743
hpo_term: Distichiasis
chpo_term: 双行睫
id: HP:0010781
hpo_term: Skin dimple
chpo_term: 皮肤酒窝征
id: HP:0011221
hpo_term: Vertical forehead creases
chpo_term: 额头皱纹垂直
Disease (ORPHA:79134):
Developmental delay-epilepsy-neonatal diabetes syndrome
DEND syndrome

Associated phenotypes (HPO):
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0009894
hpo_term: Thickened ears
chpo_term: 肥厚耳
id: HP:0040025
hpo_term: Clinodactyly of the 4th finger
chpo_term: 第四指弯曲
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
Disease (ORPHA:3411):
Herlyn-Werner-Wunderlich syndrome
HWW syndrome
OHVIRA syndrome
Obstructed hemivagina and ipsilateral renal anomaly
Double uterus-hemivagina-renal agenesis syndrome
Double uterus and obstructed hemivagina syndrome

Associated phenotypes (HPO):
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0008670
hpo_term: Partial vaginal septum
chpo_term: 部分型阴道膈
id: HP:0012532
hpo_term: Chronic pain
chpo_term: 慢性疼痛
id: HP:0012888
hpo_term: Abnormal uterine cervix morphology
chpo_term: 宫颈形态异常
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0030711
hpo_term: Hydrocolpos
chpo_term: 阴道积水
id: HP:0100607
hpo_term: Dysmenorrhea
chpo_term: 痛经
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
Disease (ORPHA:79135):
Episodic ataxia-vertigo-tinnitus-myokymia syndrome
Episodic ataxia type 3

Associated phenotypes (HPO):
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
Disease (ORPHA:3412):
Sujansky-Leonard syndrome
VACTERL with hydrocephalus

Associated phenotypes (HPO):
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
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:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002139
hpo_term: Arrhinencephaly
chpo_term: 无鼻无脑畸形
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
id: HP:0010305
hpo_term: Absence of the sacrum
chpo_term: 骶骨缺如
id: HP:0011027
hpo_term: Abnormal fallopian tube morphology
chpo_term: 输卵管形态异常
id: HP:0011267
hpo_term: Microtia, third degree
chpo_term: 小耳畸形，3级
id: HP:0100541
hpo_term: Femoral hernia
chpo_term: 股疝
Disease (ORPHA:79136):
Periodic vestibulocerebellar ataxia
PATX
Episodic ataxia type 4

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000617
hpo_term: Abnormality of ocular smooth pursuit
chpo_term: 眼部平稳跟踪异常
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002457
hpo_term: Abnormal head movements
chpo_term: 头部运动异常
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
Disease (ORPHA:79137):
Generalized epilepsy-paroxysmal dyskinesia syndrome
GEPD

Associated phenotypes (HPO):
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0007166
hpo_term: Paroxysmal dyskinesia
chpo_term: 发作性运动障碍
id: HP:0010849
hpo_term: EEG with spike-wave complexes (>3.5 Hz)
chpo_term: 大于3.5赫兹棘慢复合波脑电图
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
Disease (ORPHA:79138):
Bickerstaff brainstem encephalitis

Associated phenotypes (HPO):
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002270
hpo_term: Abnormality of the autonomic nervous system
chpo_term: 自主神经系统异常
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0007131
hpo_term: Acute demyelinating polyneuropathy
chpo_term: 急性脱髓鞘性多发性神经病
id: HP:0007209
hpo_term: Facial paralysis
chpo_term: 面瘫
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0012696
hpo_term: Abnormal thalamic MRI signal intensity
chpo_term: 丘脑核磁共振信号强度异常
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
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:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0012416
hpo_term: Hypercapnia
chpo_term: 高碳酸血症
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0031123
hpo_term: Recurrent gastroenteritis
chpo_term: 复发性肠胃炎
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
Disease (ORPHA:431329):
Spastic paraplegia due to partial TFG deficiency
SPG57
Autosomal recessive spastic paraplegia type 57

Associated phenotypes (HPO):
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0005109
hpo_term: Abnormality of the Achilles tendon
chpo_term: 跟腱的异常
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
Disease (ORPHA:439254):
ITM2B amyloidosis
ITM2B-related amyloidosis
ITM2B-related cerebral amyloid angiopathy
Familial cerebral amyloid angiopathy

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0011970
hpo_term: Cerebral amyloid angiopathy
chpo_term: 脑淀粉样血管病
Disease (ORPHA:454887):
Corticobasal syndrome

Associated phenotypes (HPO):
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0007158
hpo_term: Progressive extrapyramidal muscular rigidity
chpo_term: 进行性锥体外系肌肉僵直
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000743
hpo_term: Frontal release signs
chpo_term: 额叶释放征象
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0007301
hpo_term: Oromotor apraxia
chpo_term: 口部失用
id: HP:0030217
hpo_term: Limb apraxia
chpo_term: 肢体失用症
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:3404):
Renal dysplasia-mesomelia-radiohumeral fusion syndrome
Ulbright-Hodes syndrome
Renal dysplasia-limb defects syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000036
hpo_term: Abnormal penis morphology
chpo_term: 阴茎形态异常
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
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:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000811
hpo_term: Abnormal external genitalia
chpo_term: 外生殖器异常
id: HP:0000879
hpo_term: Short sternum
chpo_term: 短胸骨
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002009
hpo_term: Potter facies
chpo_term: 波特面容
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0003309
hpo_term: Ovoid thoracolumbar vertebrae
chpo_term: 卵形胸腰椎体
id: HP:0003561
hpo_term: Birth length less than 3rd percentile
chpo_term: 出生身长小于第3百分位数
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0006495
hpo_term: Aplasia/Hypoplasia of the ulna
chpo_term: 尺骨发育不良/发育不全
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0008683
hpo_term: Enlarged labia minora
chpo_term: 小阴唇增大
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:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0009829
hpo_term: Phocomelia
chpo_term: 短肢畸形
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0011341
hpo_term: Long upper lip
chpo_term: 上唇肥厚
id: HP:0040072
hpo_term: Abnormal forearm bone morphology
chpo_term: 前臂骨形态异常
Disease (ORPHA:3405):
Umbilical cord ulceration-intestinal atresia syndrome

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001679
hpo_term: Abnormal aortic morphology
chpo_term: 主动脉形态异常
id: HP:0001702
hpo_term: Abnormal tricuspid valve morphology
chpo_term: 三尖瓣形态异常
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
Disease (ORPHA:3406):
Ulerythema ophryogenesis

Associated phenotypes (HPO):
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0000290
hpo_term: Abnormality of the forehead
chpo_term: 前额异常
id: HP:0000306
hpo_term: Abnormality of the chin
chpo_term: 下巴异常
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0004426
hpo_term: Abnormal cheek morphology
chpo_term: 面颊形态异常
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0032282
hpo_term: Contact dermatitis
chpo_term: 接触性皮炎
Disease (ORPHA:570422):
Galactose mutarotase deficiency
Galactosemia type 4
GALM deficiency

Associated phenotypes (HPO):
id: HP:0004915
hpo_term: Impairment of galactose metabolism
chpo_term: 半乳糖代谢障碍
id: HP:0012024
hpo_term: Hypergalactosemia
chpo_term: 高半乳糖血症
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症