TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:199318):
Monosomy 15q13.3
Del(15)(q13.3)
15q13.3 microdeletion syndrome

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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
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:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:391):
Classic Hodgkin lymphoma
Classic Hodgkin disease

Associated phenotypes (HPO):
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0005374
hpo_term: Cellular immunodeficiency
chpo_term: 细胞免疫缺陷
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
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:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
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:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
Disease (ORPHA:231137):
Silver-Russell syndrome due to trisomy 7p11.2-p13
Silver-Russell syndrome due to dup(7)(p11.2p13)
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to 7p11.2-p13 microduplication
Silver-Russell syndrome due to trisomy 7p11.2p13

Associated phenotypes (HPO):
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
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:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0001786
hpo_term: Narrow foot
chpo_term: 窄足
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
Disease (ORPHA:1401):
Curly hair-ankyloblepharon-nail dysplasia syndrome
CHAND syndrome
Baughman syndrome
CHANDS

Associated phenotypes (HPO):
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000190
hpo_term: Abnormal oral frenulum morphology
chpo_term: 口腔系带形态异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002710
hpo_term: Commissural lip pit
chpo_term: 口角小窝
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
id: HP:0030011
hpo_term: Imperforate hymen
chpo_term: 处女膜闭锁
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0200160
hpo_term: Agenesis of maxillary incisor
chpo_term: 上颌切牙发育不全
id: HP:0004704
hpo_term: Short fifth metatarsal
chpo_term: 第五跖骨过短
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
Disease (ORPHA:240094):
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
PSP-pure akinesia with gait freezing
PSP-PAGF

Associated phenotypes (HPO):
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0031825
hpo_term: Freezing of gait
chpo_term: 冻结步态
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0005329
hpo_term: Fixed facial expression
chpo_term: 面部表情木讷
id: HP:0031434
hpo_term: Abnormal speech prosody
chpo_term: 说话韵律异常
id: HP:0031814
hpo_term: Palilalia
chpo_term: 语言重复症
id: HP:0031908
hpo_term: Micrographia
chpo_term: 写字过小症
id: HP:0031937
hpo_term: Tachylalia
chpo_term: 急语症
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0007311
hpo_term: Short stepped shuffling gait
chpo_term: 小碎步步态
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
Disease (ORPHA:2736):
Lethal omphalocele-cleft palate syndrome
Czeizel syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0000136
hpo_term: Bifid uterus
chpo_term: 双角子宫
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0100333
hpo_term: Unilateral cleft lip
chpo_term: 单侧唇裂
Disease (ORPHA:1406):
Charlie M syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
Disease (ORPHA:2730):
Postaxial tetramelic oligodactyly

Associated phenotypes (HPO):
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0100257
hpo_term: Ectrodactyly
chpo_term: 缺趾/指畸形
Disease (ORPHA:2732):
Olivopontocerebellar atrophy-deafness syndrome
Olivopontocerebellar atrophy-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
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:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002542
hpo_term: Olivopontocerebellar atrophy
chpo_term: 橄榄桥脑小脑萎缩
Disease (ORPHA:79403):
JEB-PA
Junctional epidermolysis bullosa with pyloric atresia
JEB with pyloric atresia
Carmi syndrome

Associated phenotypes (HPO):
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004399
hpo_term: Congenital pyloric atresia
chpo_term: 先天性幽门闭锁
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000070
hpo_term: Ureterocele
chpo_term: 输尿管囊肿
id: HP:0000075
hpo_term: Renal duplication
chpo_term: 肾重复
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0010477
hpo_term: Aplasia of the bladder
chpo_term: 膀胱发育不全
id: HP:0012227
hpo_term: Urethral stricture
chpo_term: 尿道狭窄
id: HP:0100577
hpo_term: Urinary bladder inflammation
chpo_term: 膀胱炎
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
Disease (ORPHA:199302):
Isolated cleft lip

Associated phenotypes (HPO):
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0000220
hpo_term: Velopharyngeal insufficiency
chpo_term: 腭咽机能不全
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0006332
hpo_term: Supernumerary maxillary incisor
chpo_term: 上颌骨多生中切牙
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0011438
hpo_term: Maternal teratogenic exposure
chpo_term: 孕期致畸暴露
id: HP:0031469
hpo_term: Low self esteem
chpo_term: 低自尊
id: HP:0040115
hpo_term: Abnormal Eustachian tube morphology
chpo_term: 咽鼓管形态异常
id: HP:0100336
hpo_term: Bilateral cleft lip
chpo_term: 双侧唇裂
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
Disease (ORPHA:99013):
Spastic paraplegia type 7
SPG7

Associated phenotypes (HPO):
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007164
hpo_term: Slowed slurred speech
chpo_term: 慢而含混不清的语言
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008322
hpo_term: Abnormal mitochondrial morphology
chpo_term: 线粒体形态异常
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
Disease (ORPHA:79405):
Junctional epidermolysis bullosa inversa
JEB inversa
JEB-I

Associated phenotypes (HPO):
id: HP:0012252
hpo_term: Abnormal respiratory system morphology
chpo_term: 呼吸系统形态学异常
id: HP:0031464
hpo_term: Genital blistering
chpo_term: 生殖器水泡
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0004386
hpo_term: Gastrointestinal inflammation
chpo_term: 胃肠道炎症
id: HP:0020117
hpo_term: Hypoplastic dermoepidermal hemidesmosomes
chpo_term: 真皮表皮交界处半小体发育不良
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
Disease (ORPHA:99014):
CMTX5
X-linked Charcot-Marie-Tooth disease type 5
CMT5X

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
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:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0040129
hpo_term: Abnormal nerve conduction velocity
chpo_term: 神经传导速度异常
Disease (ORPHA:389):
Langerhans cell granulomatosis
Langerhans cell histiocytosis
Histiocytosis X

Associated phenotypes (HPO):
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001945
hpo_term: Fever
chpo_term: 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:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
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:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
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:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003249
hpo_term: Genital ulcers
chpo_term: 生殖器溃疡
id: HP:0034323
hpo_term: Reduced circulating growth hormone concentration
chpo_term: 循环生长激素水平降低
id: HP:0034769
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0030991
hpo_term: Sclerosing cholangitis
chpo_term: 硬化性胆管炎
Disease (ORPHA:477814):
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0034311
hpo_term: Hypoplastic optic chiasm
chpo_term: 视交叉发育不全
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:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
Disease (ORPHA:388):
HSCR
Hirschsprung disease
Colonic aganglionosis
Aganglionic megacolon
Congenital intestinal aganglionosis

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004387
hpo_term: Enterocolitis
chpo_term: 小肠结肠炎
id: HP:0031369
hpo_term: Colon perforation
chpo_term: 结肠穿孔
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0012719
hpo_term: Functional abnormality of the gastrointestinal tract
chpo_term: 胃肠道功能异常
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0034754
id: HP:6000224
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
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