TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3309):
Tetrasomy 5p syndrome
Isochromosome 5p

Associated phenotypes (HPO):
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0006931
hpo_term: Pericallosal lipoma
chpo_term: 胼胝体周围脂肪瘤
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
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:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0007483
hpo_term: Depigmentation/hyperpigmentation of skin
chpo_term: 皮肤色素脱失/色素沉着
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
Disease (ORPHA:250972):
Polymicrogyria with optic nerve hypoplasia

Associated phenotypes (HPO):
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
Disease (ORPHA:71526):
POMC deficiency
Obesity due to pro-opiomelanocortin deficiency

Associated phenotypes (HPO):
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0009126
hpo_term: Increased adipose tissue
chpo_term: 脂肪组织增多
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0002297
hpo_term: Red hair
chpo_term: 红发
id: HP:0008915
hpo_term: Childhood-onset truncal obesity
chpo_term: 儿童期发病的躯干肥胖
id: HP:0011734
hpo_term: Central adrenal insufficiency
chpo_term: 中枢性肾上腺功能不全
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
Disease (ORPHA:139536):
Distal hereditary motor neuropathy type V
dHMN5
Distal HMN V
Distal spinal muscular atrophy type 5
Distal hereditary motor neuropathy type 5

Associated phenotypes (HPO):
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003392
hpo_term: First dorsal interossei muscle weakness
chpo_term: 第一背侧骨间肌无力
id: HP:0003393
hpo_term: Thenar muscle atrophy
chpo_term: 鱼际肌萎缩
id: HP:0003426
hpo_term: First dorsal interossei muscle atrophy
chpo_term: 第一背侧骨间肌萎缩
id: HP:0003427
hpo_term: Thenar muscle weakness
chpo_term: 鱼际肌无力
id: HP:0003435
hpo_term: Cold-induced hand cramps
chpo_term: 寒冷诱发的手肌强直
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0040131
hpo_term: Abnormal motor nerve conduction velocity
chpo_term: 运动神经传导速度异常
Disease (ORPHA:91130):
Cardiomyopathy-hypotonia-lactic acidosis syndrome

Associated phenotypes (HPO):
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0012103
hpo_term: Abnormality of the mitochondrion
chpo_term: 线粒体异常
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0009805
hpo_term: Low-output congestive heart failure
chpo_term: 低输出型充血性心力衰竭
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
Disease (ORPHA:91132):
Ichthyosis-hypotrichosis syndrome
IFAH syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
Hypotrichosis-congenital ichthyosis syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
IHS

Associated phenotypes (HPO):
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (ORPHA:91131):
Hypotonia and ichthyosis due to dolichol phosphate deficiency
Congenital disorder of glycosylation type 1m
Congenital disorder of glycosylation type Im
Dolichol kinase deficiency
Carbohydrate deficient glycoprotein syndrome type Im
DK1-CDG
CDG1M
CDG-Im
CDG syndrome type Im

Associated phenotypes (HPO):
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0031319
hpo_term: Cardiomyocyte hypertrophy
chpo_term: 心肌细胞肥大
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0031329
hpo_term: Interstitial cardiac fibrosis
chpo_term: 间质性心脏纤维化
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
Disease (ORPHA:3301):
Zimmer phocomelia
Tetraamelia-multiple malformations syndrome
PAPPAS
PAPPA syndrome

Associated phenotypes (HPO):
id: HP:0009924
hpo_term: Aplasia/Hypoplasia involving the nose
chpo_term: 鼻发育不全／未发育
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001600
hpo_term: Abnormality of the larynx
chpo_term: 喉部异常
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009812
hpo_term: Amelia involving the upper limbs
chpo_term: 上肢缺肢
id: HP:0010494
hpo_term: Acromelia of the lower limbs
chpo_term: 下肢短
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0100842
hpo_term: Septo-optic dysplasia
chpo_term: 透明隔-视神经发育不良
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003057
hpo_term: Tetraamelia
chpo_term: 四肢缺如
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009103
hpo_term: Aplasia/Hypoplasia involving the pelvis
chpo_term: 骨盆骨发育不良/发育不全
Disease (ORPHA:3303):
Tetralogy of Fallot

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0005105
hpo_term: Abnormal nasal morphology
chpo_term: 鼻形态异常
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
Disease (ORPHA:91135):
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Pseudoxanthoma elasticum-like syndrome
PXE-like syndrome

Associated phenotypes (HPO):
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0001102
hpo_term: Angioid streaks of the fundus
chpo_term: 眼底血管样条纹
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
Disease (ORPHA:352403):
SCAR14
SPARCA1
Autosomal recessive spinocerebellar ataxia type 14
SPARCA
Spectrin-associated autosomal recessive cerebellar ataxia type 1
Spectrin-associated autosomal recessive cerebellar ataxia
Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome

Associated phenotypes (HPO):
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0008003
hpo_term: Jerky ocular pursuit movements
chpo_term: 急速眼追踪运动
Disease (ORPHA:3304):
Bindewald-Ulmer-Müller syndrome
Fallot complex-intellectual disability-growth delay syndrome

Associated phenotypes (HPO):
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001525
hpo_term: Severe failure to thrive
chpo_term: 严重生长障碍
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0011335
hpo_term: Frontal hirsutism
chpo_term: 前额多毛
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002623
hpo_term: Overriding aorta
chpo_term: 主动脉骑跨
id: HP:0005278
hpo_term: Hypoplastic nasal tip
chpo_term: 鼻尖发育不全
id: HP:0005301
hpo_term: Persistent left superior vena cava
chpo_term: 左侧上腔静脉永存
id: HP:0007687
hpo_term: Unilateral ptosis
chpo_term: 单侧上睑下垂
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0100760
hpo_term: Clubbing of toes
chpo_term: 杵状趾
Disease (ORPHA:289522):
Microtriplication 11q24.1 syndrome
Tetrasomy 11q24.1

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
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:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
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:0006316
hpo_term: Irregularly spaced teeth
chpo_term: 牙齿间隔不规则
id: HP:0009907
hpo_term: Attached earlobe
chpo_term: 附耳垂
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0011822
hpo_term: Broad chin
chpo_term: 宽下巴
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
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:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006951
hpo_term: Retrocerebellar cyst
chpo_term: Retrocerebellar囊肿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:1590):
Monosomy 13q32
Deletion 13q32
Distal monosomy 13q
Distal deletion 13q syndrome
13q32 deletion
Telomeric deletion 13q

Associated phenotypes (HPO):
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
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:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
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:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100589
hpo_term: Urogenital fistula
chpo_term: 泌尿生殖道瘘
Disease (ORPHA:99094):
Laubry-Pezzi syndrome
VSD with aortic insufficiency
Ventricular septal defect with aortic insufficiency

Associated phenotypes (HPO):
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0025578
hpo_term: Aortic valve prolapse
chpo_term: 主动脉瓣脱垂
id: HP:0031567
hpo_term: Abnormal aortic valve cusp morphology
chpo_term: 主动脉瓣尖瓣形态异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0006704
hpo_term: Abnormal coronary artery morphology
chpo_term: 冠状动脉形态异常
id: HP:0011645
hpo_term: Dilatation of the sinus of Valsalva
chpo_term: 主动脉窦部扩张
id: HP:0011681
hpo_term: Subarterial ventricular septal defect
chpo_term: 动脉下室间隔缺损
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012663
hpo_term: Mildly reduced left ventricular ejection fraction
chpo_term: 左心室射血分数轻度降低
id: HP:0031668
hpo_term: Diastolic heart murmur
chpo_term: 舒张性心杂音
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001705
hpo_term: Right ventricular outlet tract obstruction
chpo_term: 右室流出道梗阻
id: HP:0004890
hpo_term: Elevated pulmonary artery pressure
chpo_term: 肺动脉压升高