TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:247990):
Macdermot-Winter syndrome
MACDERMOT-WINTER SYNDROME

Associated phenotypes (HPO):
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000050
hpo_term: Hypoplastic male external genitalia
chpo_term: 男性外生殖器发育不良
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002236
hpo_term: Frontal upsweep of hair
chpo_term: 前额卷发
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:614859):
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
Peroxisome biogenesis disorder 3A (Zellweger)

Associated phenotypes (HPO):
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0033643
hpo_term: Increased circulating very long-chain fatty acid concentration
chpo_term: 循环极长链脂肪酸浓度增加
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:306700):
Hemophilia A
HEMOPHILIA A

Associated phenotypes (HPO):
id: HP:0003125
hpo_term: Reduced factor VIII activity
chpo_term: 凝血因子VIII活性减低
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0040242
hpo_term: Muscle hemorrhage
chpo_term: 肌肉出血
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0001934
hpo_term: Persistent bleeding after trauma
chpo_term: 创伤后持续性出血
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
Disease (OMIM:131100):
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
Multiple endocrine neoplasia 1

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0002044
hpo_term: Zollinger-Ellison syndrome
chpo_term: Zollinger-Ellison 综合征
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001031
hpo_term: Subcutaneous lipoma
chpo_term: 皮下脂肪瘤
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0030404
hpo_term: Glucagonoma
chpo_term: 胰高血糖素瘤
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0008261
hpo_term: Pancreatic islet cell adenoma
chpo_term: 胰岛细胞腺瘤
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0012197
hpo_term: Insulinoma
chpo_term: 胰岛素瘤
id: HP:0009720
hpo_term: Adenoma sebaceum
chpo_term: 皮脂腺腺瘤
id: HP:0008256
hpo_term: Adrenocortical adenoma
chpo_term: 肾上腺皮质腺瘤
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0000854
hpo_term: Thyroid adenoma
chpo_term: 甲状腺腺瘤
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007449
hpo_term: Confetti-like hypopigmented macules
chpo_term: 斑驳样色素减退斑
id: HP:0002897
hpo_term: Parathyroid adenoma
chpo_term: 甲状旁腺腺瘤
id: HP:0006767
hpo_term: Pituitary prolactin cell adenoma
chpo_term: 垂体泌乳素腺瘤
Disease (OMIM:617388):
Autoinflammation with arthritis and dyskeratosis
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS

Associated phenotypes (HPO):
id: HP:0011859
hpo_term: Punctate keratitis
chpo_term: 点状角膜炎
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0032061
hpo_term: Hypereosinophilia
chpo_term: 高嗜酸性粒细胞
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0011496
hpo_term: Corneal neovascularization
chpo_term: 角膜新生血管
id: HP:0033001
hpo_term: Laryngeal papilloma
chpo_term: 喉乳头状瘤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
Disease (OMIM:609808):
Hamartoma, precalcaneal congenital fibrolipomatous
HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS

Associated phenotypes (HPO):
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:620242):
Neurodevelopmental disorder with poor growth and behavioral abnormalities
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0010863
hpo_term: Receptive language delay
chpo_term: 接受性语言发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0005709
hpo_term: 2-3 toe cutaneous syndactyly
chpo_term: 第二、三脚趾皮肤性并趾
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0011808
hpo_term: Decreased patellar reflex
chpo_term: 膝反射减弱
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0033838
hpo_term: Dysphoria
chpo_term: 烦躁不安
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
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:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
Disease (OMIM:610381):
Cone-Rod dystrophy 11
CONE-ROD DYSTROPHY 11

Associated phenotypes (HPO):
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0011504
hpo_term: Bull's eye maculopathy
chpo_term: 靶心样黄斑病变
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:178500):
Pulmonary fibrosis, idiopathic
PULMONARY FIBROSIS, IDIOPATHIC

Associated phenotypes (HPO):
id: HP:0006519
hpo_term: Alveolar cell carcinoma
chpo_term: 肺泡细胞癌
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0031950
hpo_term: Usual interstitial pneumonia
chpo_term: 寻常性间质性肺炎
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0032977
hpo_term: Elevated bronchoalveolar lavage fluid neutrophil proportion
chpo_term: 支气管肺泡灌洗液中性粒细胞比例升高
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
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:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
Disease (OMIM:618905):
Silver-Russell syndrome 2
SILVER-RUSSELL SYNDROME 2

Associated phenotypes (HPO):
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0032384
hpo_term: Uniparental isodisomy
chpo_term: 单亲同二体
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
Disease (OMIM:302200):
CATARACT 40
Cataract, congenital total, with posterior sutural opacities in heterozygotes

Associated phenotypes (HPO):
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0010695
hpo_term: Sutural cataract
chpo_term: 缝性白内障
Disease (OMIM:613850):
INOSINE TRIPHOSPHATASE DEFICIENCY
Inosine triphosphatase deficiency

Associated phenotypes (HPO):
id: HP:6000510
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:6000511
Disease (OMIM:613688):
LONG QT SYNDROME 2
Long QT syndrome 2

Associated phenotypes (HPO):
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0034303
hpo_term: Notched T wave
chpo_term: T波切迹
id: HP:0001664
hpo_term: Torsade de pointes
chpo_term: 尖端扭转型室性心动过速
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:135400):
Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0004540
hpo_term: Congenital, generalized hypertrichosis
chpo_term: 先天性全身多毛症
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000169
hpo_term: Gingival fibromatosis
chpo_term: 牙龈纤维瘤病
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0012810
hpo_term: Wide nasal base
chpo_term: 宽鼻底
Disease (OMIM:251880):
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001405
hpo_term: Periportal fibrosis
chpo_term: 门静脉周围纤维化
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001404
hpo_term: Hepatocellular necrosis
chpo_term: 肝细胞坏死
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0002909
hpo_term: Generalized aminoaciduria
chpo_term: 全谱氨基酸尿
id: HP:0006581
hpo_term: Depletion of mitochondrial DNA in liver
chpo_term: 肝脏线粒体DNA缺失
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000549
hpo_term: Abnormal conjugate eye movement
chpo_term: 眼球共轭运动异常
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001413
hpo_term: Micronodular cirrhosis
chpo_term: 小结节性肝硬化
Disease (OMIM:607831):
Charcot-Marie-Tooth disease, axonal, type 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003450
hpo_term: Axonal regeneration
chpo_term: 轴突再生
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
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:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:202200):
Glucocorticoid deficiency 1
GLUCOCORTICOID DEFICIENCY 1

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0040084
hpo_term: Abnormal circulating renin
chpo_term: 循环肾素水平异常
id: HP:0040085
hpo_term: Abnormal circulating aldosterone
chpo_term: 循环醛固酮水平异常
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0031074
hpo_term: Abnormal response to ACTH stimulation test
chpo_term: ACTH刺激试验反应异常
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:250220):
Spondylometaphyseal dysplasia, Sedaghatian type
SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Associated phenotypes (HPO):
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0004688
hpo_term: Irregular tarsal bones
chpo_term: 不规则的跗骨
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0007187
hpo_term: Focal lissencephaly
chpo_term: 局灶性无脑回畸形
id: HP:0008798
hpo_term: Widened greater sciatic notch
chpo_term: 坐骨大切迹变宽
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0006059
hpo_term: Cone-shaped metacarpal epiphyses
chpo_term: 掌骨锥形骨骺
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0003085
hpo_term: Long fibula
chpo_term: 长腓骨
id: HP:0031233
hpo_term: Horizontal inferior border of scapula
chpo_term: 水平状肩胛骨下缘
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000887
hpo_term: Cupped ribs
chpo_term: 杯状肋骨端
id: HP:0008786
hpo_term: Iliac crest serration
chpo_term: 髂嵴锯齿状缘
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾