TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:613800):
MEIER-GORLIN SYNDROME 2
Meier-Gorlin syndrome 2

Associated phenotypes (HPO):
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002780
hpo_term: Bronchomalacia
chpo_term: 支气管软化
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
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:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:191480):
UNCOMBABLE HAIR SYNDROME 1
Uncombable hair syndrome 1

Associated phenotypes (HPO):
id: HP:0002235
hpo_term: Pili canaliculi
chpo_term: 隧道毛发
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0030056
hpo_term: Uncombable hair
chpo_term: 蓬发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
Disease (OMIM:178550):
PULMONARY HEMOSIDEROSIS
Pulmonary hemosiderosis

Associated phenotypes (HPO):
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0005828
hpo_term: Transient pulmonary infiltrates
chpo_term: 一过性肺浸润
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006535
hpo_term: Recurrent intrapulmonary hemorrhage
chpo_term: 复发性肺内出血
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
Disease (OMIM:619493):
Congenital disorder of glycosylation, type 2V
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0012347
hpo_term: Abnormal protein N-linked glycosylation
chpo_term: 蛋白质N-联糖基化异常
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:618955):
RETINITIS PIGMENTOSA 89
Retinitis pigmentosa 89

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0025158
hpo_term: Hyperautofluorescent retinal lesion
chpo_term: 视网膜自发强荧光病变
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0030473
hpo_term: Abnormal light-adapted flicker electroretinogram
chpo_term: 明适应闪光视网膜电图异常
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0033149
hpo_term: Intrahepatic bile duct dilatation
chpo_term: 肝内胆管扩张
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001413
hpo_term: Micronodular cirrhosis
chpo_term: 小结节性肝硬化
Disease (OMIM:183090):
SPINOCEREBELLAR ATAXIA 2
Spinocerebellar ataxia 2

Associated phenotypes (HPO):
id: HP:0002542
hpo_term: Olivopontocerebellar atrophy
chpo_term: 橄榄桥脑小脑萎缩
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001151
hpo_term: Impaired horizontal smooth pursuit
chpo_term: 水平平滑追随眼动受损
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0003743
hpo_term: Genetic anticipation
chpo_term: 遗传早现
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:254770):
EPILEPSY, MYOCLONIC JUVENILE
Myoclonic epilepsy, juvenile, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0012001
hpo_term: EEG with generalized polyspikes
chpo_term: 脑电图，广泛性多棘波
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0007000
hpo_term: Morning myoclonic jerks
chpo_term: 早晨肌阵挛样抽动
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:206750):
ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION
Aniridia, partial, with unilateral renal agenesis and psychomotorretardation

Associated phenotypes (HPO):
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:123540):
CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY
Cryofibrinogenemia, familial primary

Associated phenotypes (HPO):
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0008695
hpo_term: Transient nephrotic syndrome
chpo_term: 瞬态肾病综合征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618014):
Premature ovarian failure 14
PREMATURE OVARIAN FAILURE 14

Associated phenotypes (HPO):
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:610448):
Chilblain lupus 1
CHILBLAIN LUPUS 1

Associated phenotypes (HPO):
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0007460
hpo_term: Autoamputation of digits
chpo_term: 手指（足趾）自发性离断
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0009710
hpo_term: Chilblains
chpo_term: 冻疮
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (OMIM:616039):
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D
Charcot-Marie-Tooth disease, recessive intermediate D

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:615530):
Parkinson disease 20, early-onset
PARKINSON DISEASE 20, EARLY-ONSET

Associated phenotypes (HPO):
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0025401
hpo_term: Staring gaze
chpo_term: 凝视
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0000658
hpo_term: Eyelid apraxia
chpo_term: 眼睑失用症
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025709
hpo_term: Intermediate young adult onset
chpo_term: 青年成人中期起病
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007311
hpo_term: Short stepped shuffling gait
chpo_term: 小碎步步态
id: HP:0025403
hpo_term: Stooped posture
chpo_term: 弯腰姿势
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:612539):
Spastic paraplegia 42, autosomal dominant
SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:189230):
TOES, SPACE BETWEEN FIRST AND SECOND
Toes, space between first and second

Associated phenotypes (HPO):
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601223):
NEURONAL INTESTINAL DYSPLASIA, TYPE B
Neuronal intestinal dysplasia, type B

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:233700):
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1

Associated phenotypes (HPO):
id: HP:0007417
hpo_term: Discoid lupus rash
chpo_term: 盘状红斑狼疮
id: HP:0002740
hpo_term: Recurrent E. coli infections
chpo_term: 反复大肠杆菌感染
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0002741
hpo_term: Recurrent Serratia marcescens infections
chpo_term: 反复粘质沙雷氏菌感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002955
hpo_term: Granulomatosis
chpo_term: 肉芽肿病
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0003206
hpo_term: Decreased activity of NADPH oxidase
chpo_term: NADPH氧化酶活性降低
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003203
hpo_term: Impaired oxidative burst
chpo_term: 四氮唑蓝（NBT）还原试验阴性
id: HP:0005224
hpo_term: Rectal abscess
chpo_term: 直肠脓肿
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0002726
hpo_term: Recurrent Staphylococcus aureus infections
chpo_term: 反复金黄色葡萄球菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002724
hpo_term: Recurrent Aspergillus infections
chpo_term: 反复曲霉菌感染
id: HP:0002723
hpo_term: Absence of bactericidal oxidative respiratory burst in phagocytes
chpo_term: 吞噬细胞中杀菌性氧化呼吸爆发的缺失
id: HP:0002742
hpo_term: Recurrent Klebsiella infections
chpo_term: 反复克雷伯杆菌感染
id: HP:0002842
hpo_term: Recurrent Burkholderia cepacia infections
chpo_term: 反复伯克霍尔德菌感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:617441):
THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS
Thrombocytopenia, anemia, and myelofibrosis

Associated phenotypes (HPO):
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004823
hpo_term: Anisopoikilocytosis
chpo_term: 异形红细胞增多症
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0011974
hpo_term: Myelofibrosis
chpo_term: 骨髓纤维化
Disease (OMIM:177850):
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
Pseudoxanthoma elasticum, forme fruste

Associated phenotypes (HPO):
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0001102
hpo_term: Angioid streaks of the fundus
chpo_term: 眼底血管样条纹
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0025533
hpo_term: Peau d'orange
chpo_term: 桔皮化
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0005462
hpo_term: Calcification of falx cerebri
chpo_term: 大脑镰钙化
id: HP:0005297
hpo_term: Premature occlusive vascular stenosis
chpo_term: 早发闭塞性血管狭窄
id: HP:0012457
hpo_term: Medial calcification of medium-sized arteries
chpo_term: 中型动脉内侧钙化
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002634
hpo_term: Arteriosclerosis
chpo_term: 动脉硬化
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0004966
hpo_term: Medial calcification of large arteries
chpo_term: 大动脉中层钙化
id: HP:0025507
hpo_term: Yellow papule
chpo_term: 黄色丘疹
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:619478):
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC
Facioscapulohumeral muscular dystrophy 4, digenic

Associated phenotypes (HPO):
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0010984
hpo_term: Digenic inheritance
chpo_term: 双基因遗传
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
Disease (OMIM:184700):
Polycystic ovary syndrome 1
POLYCYSTIC OVARY SYNDROME 1

Associated phenotypes (HPO):
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0008675
hpo_term: Enlarged polycystic ovaries
chpo_term: 增大的多囊卵巢
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:618766):
ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM
Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0012104
hpo_term: Parietal cortical atrophy
chpo_term: 顶叶皮质萎缩
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001188
hpo_term: Hand clenching
chpo_term: 攥拳手
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0006913
hpo_term: Frontal cortical atrophy
chpo_term: 额叶皮质萎缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:152420):
Lithium transport
LITHIUM TRANSPORT

Associated phenotypes (HPO):
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615524):
Microphthalmia, syndromic 12
MICROPHTHALMIA, SYNDROMIC 12

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0005156
hpo_term: Hypoplastic left atrium
chpo_term: 左心房发育不全
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良