TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:240950):
Hypogonadism-Cataract syndrome
HYPOGONADISM-CATARACT SYNDROME

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
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:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
Disease (OMIM:613641):
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
Charcot-marie-tooth disease, recessive intermediate B

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:0033383
hpo_term: Decreased compound muscle action potential amplitude
chpo_term: 复合肌肉动作电位波幅降低
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0009588
hpo_term: Vestibular schwannoma
chpo_term: 前庭神经鞘瘤
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
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:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
Disease (OMIM:237500):
DUBIN-JOHNSON syndrome
DUBIN-JOHNSON SYNDROME

Associated phenotypes (HPO):
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
Disease (OMIM:180500):
AXENFELD-RIEGER SYNDROME, TYPE 1
Axenfeld-Rieger syndrome, type 1

Associated phenotypes (HPO):
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000558
hpo_term: Rieger anomaly
chpo_term: Rieger综合征
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0011500
hpo_term: Polycoria
chpo_term: 多瞳症
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0007873
hpo_term: Abnormally prominent line of Schwalbe
chpo_term: Schwalbe线异常突出
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:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:615224):
Advanced sleep phase syndrome, familial, 2
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2

Associated phenotypes (HPO):
id: HP:0006979
hpo_term: Sleep-wake cycle disturbance
chpo_term: 睡眠-觉醒周期紊乱
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002077
hpo_term: Migraine with aura
chpo_term: 有先兆偏头痛
id: HP:0002083
hpo_term: Migraine without aura
chpo_term: 无先兆偏头痛
id: HP:0031873
hpo_term: Early chronotype
chpo_term: 早睡早起
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:149700):
Lacrimal duct defect
LACRIMAL DUCT DEFECT

Associated phenotypes (HPO):
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0030752
hpo_term: Dacryocystocele
chpo_term: 泪囊突出
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
id: HP:0000564
hpo_term: Lacrimal duct atresia
chpo_term: 泪道闭锁
Disease (OMIM:617433):
Retinitis pigmentosa 78
RETINITIS PIGMENTOSA 78

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0030786
hpo_term: Photopsia
chpo_term: 闪光感
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
Disease (OMIM:100300):
ADAMS-OLIVER SYNDROME 1
Adams-Oliver syndrome 1

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0030011
hpo_term: Imperforate hymen
chpo_term: 处女膜闭锁
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0007589
hpo_term: Aplasia cutis congenita on trunk or limbs
chpo_term: 先天性躯干或四肢表皮发育不全
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:6000946
id: HP:0007590
hpo_term: Aplasia cutis congenita over posterior parietal area
chpo_term: 先天性后顶叶表皮发育不全
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:605751):
Seizures, benign familial infantile, 2
SEIZURES, BENIGN FAMILIAL INFANTILE, 2

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:256840):
NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0034075
hpo_term: Decreased circulating apolipoprotein B concentration
chpo_term: 循环载脂蛋白B水平降低
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0006121
hpo_term: Acral ulceration
chpo_term: 肢端溃疡
id: HP:0007078
hpo_term: Decreased amplitude of sensory action potentials
chpo_term: 感觉动作电位波幅降低
id: HP:0012153
hpo_term: Hypotriglyceridemia
chpo_term: 低甘油三酯血症
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:0003409
hpo_term: Distal sensory impairment of all modalities
chpo_term: 远端各种感觉障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001886
hpo_term: Foot osteomyelitis
chpo_term: 足骨骨髓炎
Disease (OMIM:615542):
Testicular anomalies with or without congenital heart disease
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE

Associated phenotypes (HPO):
id: HP:0008715
hpo_term: Testicular dysgenesis
chpo_term: 睾丸发育不全
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0002926
hpo_term: Abnormality of thyroid physiology
chpo_term: 甲状腺生理功能异常
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:4000094
id: HP:0030260
hpo_term: Microphallus
chpo_term: 阴茎过小
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:300491):
EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Epilepsy, X-linked, with variable learning disabilities and behavior disorders

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
Disease (OMIM:617468):
ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT
Arthrogryposis multiplex congenita, neurogenic, with myelin defect

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
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:0006659
hpo_term: Internally rotated shoulders
chpo_term: 内旋肩
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:619445):
DIARRHEA 12, WITH MICROVILLUS ATROPHY
Diarrhea 12, with microvillus atrophy

Associated phenotypes (HPO):
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0033994
hpo_term: Dependency on parenteral nutrition
chpo_term: 依赖肠外营养
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0033996
hpo_term: Microvillar PAS-positive secretory granules
chpo_term: 微绒毛PAS染色阳性分泌颗粒
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0033995
hpo_term: Microvillus inclusions
chpo_term: 微绒毛包涵体
id: HP:0005208
hpo_term: Secretory diarrhea
chpo_term: 分泌性腹泻
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
Disease (OMIM:614607):
COFFIN-SIRIS SYNDROME 2
Coffin-Siris syndrome 2

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
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:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0200105
hpo_term: Absent fifth toenail
chpo_term: 第5趾甲缺损
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:0200104
hpo_term: Absent fifth fingernail
chpo_term: 第5指甲缺损
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
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:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:619323):
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
Neurodevelopmental disorder with seizures and gingival overgrowth

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0005830
hpo_term: Flexion contracture of toe
chpo_term: 脚趾屈曲挛缩
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0030793
hpo_term: Jaw swelling
chpo_term: 颌部肿胀
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0033720
hpo_term: EEG with occipital epileptiform discharges
chpo_term: 枕叶癫痫样放电的脑电图
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000748
hpo_term: Inappropriate laughter
chpo_term: 不适宜的发笑
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
Disease (OMIM:606217):
Atrioventricular septal defect, partial, with heterotaxy syndrome
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0002627
hpo_term: Right aortic arch with mirror image branching
chpo_term: 右位主动脉弓伴镜像分支
id: HP:0011577
hpo_term: Partial atrioventricular canal defect
chpo_term: 部分房室管缺损
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610475):
Pigmented nodular adrenocortical disease, primary, 2
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2

Associated phenotypes (HPO):
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0003466
hpo_term: Paradoxical increased cortisol secretion on dexamethasone suppression test
chpo_term: 地塞米松抑制试验皮质醇分泌反常增加
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001580
hpo_term: Pigmented micronodular adrenocortical disease
chpo_term: 色素性小结节状肾上腺皮质疾病
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001579
hpo_term: Primary hypercortisolism
chpo_term: 原发性皮质醇增多症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
Disease (OMIM:600666):
Polycystic kidney disease 3
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614613):
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
Acrodysostosis 2 with or without hormone resistance

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002286
hpo_term: Fair hair
chpo_term: 金发
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0004233
hpo_term: Advanced ossification of carpal bones
chpo_term: 腕骨骨化过早
id: HP:0002297
hpo_term: Red hair
chpo_term: 红发
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖