TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:618971):
TOLCHIN-LE CAIGNEC SYNDROME
Tolchin-Le Caignec syndrome

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0000263
hpo_term: Oxycephaly
chpo_term: 锥形头
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0030431
hpo_term: Osteochondroma
chpo_term: 骨软骨瘤
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0010526
hpo_term: Dysgraphia
chpo_term: 书写困难
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0030820
hpo_term: Hooded eyelid
chpo_term: 眼睑悬垂
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0009729
hpo_term: Cardiac rhabdomyoma
chpo_term: 心脏横纹肌瘤
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
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:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
Disease (OMIM:616784):
Joubert syndrome 26
JOUBERT SYNDROME 26

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0011787
hpo_term: Central hypothyroidism
chpo_term: 中枢性甲状腺功能减退症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
Disease (OMIM:613824):
NEPHRONOPHTHISIS 9
Nephronophthisis 9

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0004734
hpo_term: Renal cortical microcysts
chpo_term: 肾皮质微小囊肿
Disease (OMIM:175050):
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME

Associated phenotypes (HPO):
id: HP:0006548
hpo_term: Pulmonary arteriovenous malformation
chpo_term: 肺动静脉畸形
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002672
hpo_term: Gastrointestinal carcinoma
chpo_term: 胃肠道癌
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0004784
hpo_term: Juvenile gastrointestinal polyposis
chpo_term: 幼年性胃肠息肉病
id: HP:0004390
hpo_term: Hamartomatous polyposis
chpo_term: 错构瘤性息肉病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0002408
hpo_term: Cerebral arteriovenous malformation
chpo_term: 脑动静脉畸形
id: HP:0006574
hpo_term: Hepatic arteriovenous malformation
chpo_term: 肝动静脉畸形
id: HP:0002647
hpo_term: Aortic dissection
chpo_term: 主动脉夹层
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
Disease (OMIM:612284):
MECKEL SYNDROME, TYPE 6
Meckel syndrome, type 6

Associated phenotypes (HPO):
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0006706
hpo_term: Cystic liver disease
chpo_term: 囊性肝病
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0011467
hpo_term: Absent gallbladder
chpo_term: 胆囊缺失
id: HP:0010477
hpo_term: Aplasia of the bladder
chpo_term: 膀胱发育不全
id: HP:0033183
hpo_term: Bilobed right lung
chpo_term: 二叶右肺
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0000812
hpo_term: Abnormal internal genitalia
chpo_term: 内生殖器异常
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
Disease (OMIM:123570):
Cryptophthalmos, unilateral or bilateral, isolated
CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED

Associated phenotypes (HPO):
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0001126
hpo_term: Cryptophthalmos
chpo_term: 隐眼
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:602097):
USHER SYNDROME, TYPE IE
Usher syndrome, type IE

Associated phenotypes (HPO):
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0008568
hpo_term: Vestibular areflexia
chpo_term: 前庭反射消失
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
Disease (OMIM:106900):
ANONYCHIA-ECTRODACTYLY

Associated phenotypes (HPO):
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0010048
hpo_term: Aplasia of metacarpal bones
chpo_term: 掌骨不发育
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
Disease (OMIM:600858):
Cardiomyopathy, familial hypertrophic, 6
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6

Associated phenotypes (HPO):
id: HP:0031318
hpo_term: Myofiber disarray
chpo_term: 肌纤维无序
id: HP:0031628
hpo_term: Aborted sudden cardiac death
chpo_term: 心脏性猝死未遂
id: HP:0001670
hpo_term: Asymmetric septal hypertrophy
chpo_term: 非对称性心室间隔肥厚
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0005165
hpo_term: Shortened PR interval
chpo_term: PR间期缩短
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0004309
hpo_term: Ventricular preexcitation
chpo_term: 心室预激
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
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:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓
Disease (OMIM:620550):
OPTIC ATROPHY 14
Optic atrophy 14

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:212067):
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx
Congenital disorder of glycosylation, type I/IIx

Associated phenotypes (HPO):
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
Disease (OMIM:614839):
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 10 with or without anosmia

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:612290):
MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE
Microtia, hearing impairment, and cleft palate

Associated phenotypes (HPO):
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0031229
hpo_term: Increased incisura length
chpo_term: 耳前切迹长度增加
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
Disease (OMIM:602083):
Usher syndrome, type IF
USHER SYNDROME, TYPE IF

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0031629
hpo_term: Impaired tandem gait
chpo_term: 踵趾步态
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
Disease (OMIM:613830):
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
Night blindness, congenital stationary, type 1D

Associated phenotypes (HPO):
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
Disease (OMIM:614187):
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
Hypertelorism, preauricular sinus, punctal pits, and deafness

Associated phenotypes (HPO):
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
Disease (OMIM:259270):
Osteodysplasty, precocious, of danks, mayne, and kozlowski
OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI

Associated phenotypes (HPO):
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0011314
hpo_term: Abnormal long bone morphology
chpo_term: 长骨形态异常
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
Disease (OMIM:620222):
Spermatogenic failure 80
SPERMATOGENIC FAILURE 80

Associated phenotypes (HPO):
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
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:0032558
hpo_term: Absent sperm flagella
chpo_term: 精子鞭毛缺失
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
Disease (OMIM:616948):
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22
Spinocerebellar ataxia, autosomal recessive 22

Associated phenotypes (HPO):
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:214370):
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS
Neuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:613818):
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0030046
hpo_term: Hypoglycosylation of alpha-dystroglycan
chpo_term: α-抗肌萎缩蛋白聚糖糖基化不良
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618795):
JUVENILE ARTHRITIS
Juvenile arthritis

Associated phenotypes (HPO):
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0033087
hpo_term: Quotidian fever
chpo_term: 每日热
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0032323
hpo_term: Periodic fever
chpo_term: 周期性发热
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:609698):
THYROID HORMONE METABOLISM, ABNORMAL
Thyroid hormone metabolism, abnormal

Associated phenotypes (HPO):
id: HP:0031506
hpo_term: Increased circulating T4 concentration
chpo_term: 循环T4水平升高
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:0033077
hpo_term: Increased circulating free T4 concentration
chpo_term: 循环游离T4水平升高
id: HP:0032210
hpo_term: Decreased circulating free T3
chpo_term: 循环游离T3浓度降低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:243200):
Intracranial hypertension, idiopathic
INTRACRANIAL HYPERTENSION, IDIOPATHIC

Associated phenotypes (HPO):
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
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:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
Disease (OMIM:215720):
Citrulline transport defect
CITRULLINE TRANSPORT DEFECT

Associated phenotypes (HPO):
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
Disease (OMIM:184095):
Spondyloepiphyseal dysplasia, Maroteaux type
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0003467
hpo_term: Atlantoaxial instability
chpo_term: 寰枢椎不稳
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0430046
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0040160
hpo_term: Generalized osteoporosis
chpo_term: 全身性骨质疏松症
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0008155
hpo_term: Mucopolysacchariduria
chpo_term: 粘多糖尿症
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
Disease (OMIM:306990):
Holoprosencephaly with fetal akinesia/hypokinesia sequence
HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
Disease (OMIM:174400):
POLYDACTYLY, PREAXIAL I
Polydactyly, preaxial I

Associated phenotypes (HPO):
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0005895
hpo_term: Radial deviation of thumb terminal phalanx
chpo_term: 拇指末节指骨径向偏移
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009944
hpo_term: Partial duplication of thumb phalanx
chpo_term: 拇指指骨部分重复
Disease (OMIM:301033):
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8
Hypothyroidism, congenital, nongoitrous, 8

Associated phenotypes (HPO):
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0033075
hpo_term: Inappropriately normal thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平不适当正常
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0033078
hpo_term: Decreased circulating free T4 concentration
chpo_term: 循环游离T4水平降低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0011787
hpo_term: Central hypothyroidism
chpo_term: 中枢性甲状腺功能减退症
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降