TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:619425):
MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)
Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0012108
hpo_term: Open angle glaucoma
chpo_term: 开角型青光眼
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
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:0002315
hpo_term: Headache
chpo_term: 头痛
Disease (OMIM:619343):
CHROMOSOME 1p36 DELETION SYNDROME, PROXIMAL
Chromosome 1p36 deletion syndrome, proximal

Associated phenotypes (HPO):
id: HP:0000242
hpo_term: Parietal bossing
chpo_term: 顶骨隆起
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001674
hpo_term: Complete atrioventricular canal defect
chpo_term: 完全性房室通道缺损
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0200128
hpo_term: Biventricular hypertrophy
chpo_term: 双心室肥厚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010773
hpo_term: Partial anomalous pulmonary venous return
chpo_term: 部分肺静脉回流异常
id: HP:0011641
hpo_term: Coronary artery fistula
chpo_term: 冠状动脉瘘
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:606263):
Paget disease of bone 4
PAGET DISEASE OF BONE 4

Associated phenotypes (HPO):
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
Disease (OMIM:613108):
CANDIDIASIS, FAMILIAL, 4
Candidiasis, familial, 4

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012203
hpo_term: Onychomycosis
chpo_term: 甲癣
id: HP:0012204
hpo_term: Recurrent vulvovaginal candidiasis
chpo_term: 复发性外阴阴道念珠菌病
Disease (OMIM:263630):
Polysyndactyly with cardiac malformation
POLYSYNDACTYLY WITH CARDIAC MALFORMATION

Associated phenotypes (HPO):
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0010066
hpo_term: Duplication of phalanx of hallux
chpo_term: 拇趾骨重复
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
Disease (OMIM:110100):
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
Blepharophimosis, epicanthus inversus, and ptosis

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0000537
hpo_term: Epicanthus inversus
chpo_term: 内眦赘皮倒转
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
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:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000769
hpo_term: Abnormality of the breast
chpo_term: 乳房异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
Disease (OMIM:608266):
Parathyroid carcinoma
PARATHYROID CARCINOMA

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0006780
hpo_term: Parathyroid carcinoma
chpo_term: 甲状旁腺癌
id: HP:0000843
hpo_term: Hyperparathyroidism
chpo_term: 甲状旁腺功能亢进症
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607155):
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0002877
hpo_term: Nocturnal hypoventilation
chpo_term: 夜间低通气
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0008305
hpo_term: Exercise-induced myoglobinuria
chpo_term: 运动后肌红蛋白尿
id: HP:0003733
hpo_term: Thigh hypertrophy
chpo_term: 大腿肥大
Disease (OMIM:194200):
Wolff-Parkinson-White syndrome
WOLFF-PARKINSON-WHITE SYNDROME

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0005165
hpo_term: Shortened PR interval
chpo_term: PR间期缩短
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0006684
hpo_term: Ventricular preexcitation with multiple accessory pathways
chpo_term: 多旁路心室预激综合征
id: HP:0004309
hpo_term: Ventricular preexcitation
chpo_term: 心室预激
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0006677
hpo_term: Prolonged QRS complex
chpo_term: QRS波群延长
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
Disease (OMIM:618075):
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7
Epilepsy, familial adult myoclonic, 7

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0033054
hpo_term: Myoclonic tremor
chpo_term: 肌阵挛性震颤
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613120):
BRUGADA SYNDROME 7
Brugada syndrome 7

Associated phenotypes (HPO):
id: HP:0004754
hpo_term: Permanent atrial fibrillation
chpo_term: 永久性心房颤动
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0012251
hpo_term: ST segment elevation
chpo_term: ST段抬高
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0034308
hpo_term: Prolonged P wave
chpo_term: P波延长
Disease (OMIM:614897):
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 16 with or without anosmia

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0030344
hpo_term: Decreased circulating luteinizing hormone level
chpo_term: 循环黄体生成素水平降低
id: HP:0030341
hpo_term: Decreased circulating follicle stimulating hormone concentration
chpo_term: 循环卵泡刺激素浓度降低
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0032466
hpo_term: Aplasia of the olfactory bulb
chpo_term: 嗅球不发育
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0040326
hpo_term: Hypoplasia of the olfactory bulb
chpo_term: 嗅球发育不全
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:615551):
EPISODIC PAIN SYNDROME, FAMILIAL, 2
Episodic pain syndrome, familial, 2

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
Disease (OMIM:615237):
Congenital short bowel syndrome
CONGENITAL SHORT BOWEL SYNDROME

Associated phenotypes (HPO):
id: HP:0030897
hpo_term: Decreased intestinal transit time
chpo_term: 肠道通过时间缩短
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002587
hpo_term: Projectile vomiting
chpo_term: 喷射性呕吐
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0030914
hpo_term: Abnormal peristalsis
chpo_term: （消化道）蠕动异常
id: HP:0030889
hpo_term: Congenital shortened small intestine
chpo_term: 先天性小肠短缩
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001984
hpo_term: Intolerance to protein
chpo_term: 蛋白质不耐受
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:163850):
NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES
Noduli cutanei, multiple, with urinary tract abnormalities

Associated phenotypes (HPO):
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:613646):
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
Methylmalonic aciduria, transient, due to transcobalamin receptor defect

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002160
hpo_term: Hyperhomocystinemia
chpo_term: 高同型半胱氨酸血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002912
hpo_term: Methylmalonic acidemia
chpo_term: 甲基丙二酸血症
id: HP:0034985
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:614129):
PERRAULT SYNDROME 3
Perrault syndrome 3

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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: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:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:159500):
MYELINATED OPTIC NERVE FIBERS
Myelinated optic nerve fibers

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
Disease (OMIM:618707):
Neurodevelopmental disorder with absent language and variable seizures
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0008093
hpo_term: Short 4th toe
chpo_term: 第四趾短
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0005643
hpo_term: Short 3rd toe
chpo_term: 第三趾过短
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613652):
C1q DEFICIENCY
C1q deficiency

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0005356
hpo_term: Decreased serum complement factor I
chpo_term: 血清补体因子I减少
id: HP:0000793
hpo_term: Membranoproliferative glomerulonephritis
chpo_term: 膜增生性肾小球肾炎
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
Disease (OMIM:228355):
FETAL IODINE DEFICIENCY DISORDER
Fetal iodine deficiency disorder

Associated phenotypes (HPO):
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0008251
hpo_term: Congenital goiter
chpo_term: 先天性甲状腺肿
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:102510):
ACROPECTOROVERTEBRAL DYSPLASIA
ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF

Associated phenotypes (HPO):
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0001241
hpo_term: Capitate-hamate fusion
chpo_term: 头状骨-钩骨融合
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0009467
hpo_term: Radial deviation of the 2nd finger
chpo_term: 第二指桡侧偏斜
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0009611
hpo_term: Bifid distal phalanx of the thumb
chpo_term: 拇指末节指骨部分重复
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0004614
hpo_term: Spina bifida occulta at S1
chpo_term: S1区隐性脊柱裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0004601
hpo_term: Spina bifida occulta at L5
chpo_term: L5区隐性脊柱裂
Disease (OMIM:208085):
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Arthrogryposis, renal dysfunction, and cholestasis 1

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0034714
id: HP:0200084
hpo_term: Giant cell hepatitis
chpo_term: 巨细胞肝炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001884
hpo_term: Talipes calcaneovalgus
chpo_term: 跟骨畸形
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0005248
hpo_term: Intrahepatic biliary atresia
chpo_term: 肝内胆道闭锁
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0009806
hpo_term: Nephrogenic diabetes insipidus
chpo_term: 肾性尿崩症
id: HP:0005565
hpo_term: Reduced renal corticomedullary differentiation
chpo_term: 肾皮髓质分界模糊
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0000092
hpo_term: Renal tubular atrophy
chpo_term: 肾小管萎缩
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:271220):
Spinal muscular atrophy, scapuloperoneal
SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL

Associated phenotypes (HPO):
id: HP:0009049
hpo_term: Peroneal muscle atrophy
chpo_term: 腓骨肌萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0009060
hpo_term: Scapular muscle atrophy
chpo_term: 肩胛肌萎缩