TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617253):
SECKEL SYNDROME 10
Seckel syndrome 10

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0005112
hpo_term: Abdominal aortic aneurysm
chpo_term: 腹主动脉瘤
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0012371
hpo_term: Hyperplasia of midface
chpo_term: 中面部肥大
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:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
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:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0001735
hpo_term: Acute pancreatitis
chpo_term: 急性胰腺炎
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
Disease (OMIM:618160):
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V
Pituitary hormone deficiency, combined or isolated, 7

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0012743
hpo_term: Abdominal obesity
chpo_term: 腹型肥胖
Disease (OMIM:180360):
RHINY

Associated phenotypes (HPO):
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615444):
CILIARY DYSKINESIA, PRIMARY, 22
Ciliary dyskinesia, primary, 22

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0012259
hpo_term: Absent inner and outer dynein arms
chpo_term: 内、外动力蛋白臂缺如
id: HP:0200073
hpo_term: Respiratory insufficiency due to defective ciliary clearance
chpo_term: 纤毛清除缺陷所致呼吸功能不全
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0012263
hpo_term: Immotile cilia
chpo_term: 不动纤毛
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:618606):
PONTOCEREBELLAR HYPOPLASIA, TYPE 13
Pontocerebellar hypoplasia, type 13

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0025517
hpo_term: Hypoplastic hippocampus
chpo_term: 海马回发育不良
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
Disease (OMIM:608415):
Prolonged electroretinal response suppression 1
PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION

Associated phenotypes (HPO):
id: HP:0030512
hpo_term: Difficulty adjusting to changes in luminance
chpo_term: 亮度变化适应困难
id: HP:0030511
hpo_term: Bradyopsia
chpo_term: 运动视觉障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:606438):
HUNTINGTON DISEASE-LIKE 2
Huntington disease-like 2

Associated phenotypes (HPO):
id: HP:0030216
hpo_term: Inertia
chpo_term: 惰性
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
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:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0007123
hpo_term: Subcortical dementia
chpo_term: 皮质下痴呆
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:273250):
46, XY sex reversal 11
46,XY SEX REVERSAL 11

Associated phenotypes (HPO):
id: HP:0012870
hpo_term: Vanishing testis
chpo_term: 睾丸消失
id: HP:0008197
hpo_term: Absence of pubertal development
chpo_term: 青春期发育缺失
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:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
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:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0000812
hpo_term: Abnormal internal genitalia
chpo_term: 内生殖器异常
id: HP:0031103
hpo_term: Decreased antimullerian hormone level
chpo_term: 抗苗勒氏管激素水平降低
id: HP:0008723
hpo_term: Gonadal dysgenesis with female appearance, male
chpo_term: 男性性腺发育不全，女性外表
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:619518):
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome

Associated phenotypes (HPO):
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0033686
hpo_term: Mitochondrial hypertrophy
chpo_term: 线粒体肥大
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
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:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0025717
hpo_term: Skeletal muscle autophagosome accumulation
chpo_term: 骨骼肌自噬体蓄积
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
Disease (OMIM:601357):
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY
Brachial amelia, cleft lip, and holoprosencephaly

Associated phenotypes (HPO):
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0009827
hpo_term: Amelia
chpo_term: 缺肢
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0100336
hpo_term: Bilateral cleft lip
chpo_term: 双侧唇裂
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0001849
hpo_term: Foot oligodactyly
chpo_term: 少趾畸形
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0007035
hpo_term: Anterior encephalocele
chpo_term: 前脑膨出
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
Disease (OMIM:618612):
LOWER URINARY TRACT OBSTRUCTION, CONGENITAL
Lower urinary tract obstruction, congenital

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0010957
hpo_term: Congenital posterior urethral valve
chpo_term: 先天性后尿道瓣膜
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0008661
hpo_term: Urethral stenosis
chpo_term: 尿道狭窄
id: HP:0100515
hpo_term: Pollakisuria
chpo_term: 尿频
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:603554):
Omenn syndrome
OMENN SYNDROME

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0005365
hpo_term: Severe B lymphocytopenia
chpo_term: 重型B淋巴细胞减少症
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000778
hpo_term: Hypoplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
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:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
Disease (OMIM:261640):
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
Hyperphenylalaninemia, BH4-deficient, A

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003785
hpo_term: Decreased CSF homovanillic acid concentration
chpo_term: 脑脊液高香草酸水平降低
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0025455
hpo_term: Decreased CSF 5-hydroxyindolacetic acid
chpo_term: 脑脊液中5-羟基吲哚乙酸下降
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004923
hpo_term: Hyperphenylalaninemia
chpo_term: 高苯丙氨酸血症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
Disease (OMIM:614028):
Hyperalphalipoproteinemia 2
APOLIPOPROTEIN C-III DEFICIENCY

Associated phenotypes (HPO):
id: HP:0003563
hpo_term: Decreased LDL cholesterol concentration
chpo_term: 低β-脂蛋白血症
id: HP:0012184
hpo_term: Increased HDL cholesterol concentration
chpo_term: 高α脂蛋白血症
id: HP:0012153
hpo_term: Hypotriglyceridemia
chpo_term: 低甘油三酯血症
Disease (OMIM:613021):
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
Bronchiectasis with or without elevated sweat chloride 2

Associated phenotypes (HPO):
id: HP:0100501
hpo_term: Recurrent bronchiolitis
chpo_term: 复发性毛细支气管炎
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:6000100
id: HP:0012092
hpo_term: Abnormality of exocrine pancreas physiology
chpo_term: 胰腺外分泌生理功能异常
id: HP:0012236
hpo_term: Elevated sweat chloride
chpo_term: 汗液氯化物浓度升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:608367):
Myopia 17
MYOPIA 17, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0011530
hpo_term: Retinal hole
chpo_term: 视网膜裂孔
id: HP:0007819
hpo_term: Presenile cataracts
chpo_term: 早老性白内障
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617247):
FANCONI ANEMIA, COMPLEMENTATION GROUP U

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0011835
hpo_term: Absent scaphoid
chpo_term: 舟骨缺如
id: HP:0010035
hpo_term: Aplasia of the 1st metacarpal
chpo_term: 第一掌骨发育不全
id: HP:0012799
hpo_term: Unilateral facial palsy
chpo_term: 单侧面神经麻痹
id: HP:0040012
hpo_term: Chromosome breakage
chpo_term: 染色体断裂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
Disease (OMIM:618174):
Cortical dysplasia, complex, with other brain malformations 9
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:188700):
Tibia vara
BLOUNT DISEASE, INFANTILE

Associated phenotypes (HPO):
id: HP:0010591
hpo_term: Abnormality of the proximal tibial epiphysis
chpo_term: 胫骨近端骨骺异常
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0010886
hpo_term: Osteochondritis dissecans
chpo_term: 剥脱性骨软骨炎
Disease (OMIM:274265):
THYMIC-RENAL-ANAL-LUNG DYSPLASIA
Thymic-Renal-Anal-Lung dysplasia

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0012300
hpo_term: Ureteral agenesis
chpo_term: 输尿管未发育
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0008631
hpo_term: Ureteral dysgenesis
chpo_term: 输尿管发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如