TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:175400):
POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE
Polyposis, intestinal, scattered and discrete

Associated phenotypes (HPO):
id: HP:0005238
hpo_term: Discrete intestinal polyps
chpo_term: 分散性肠息肉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620666):
SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
Spastic ataxia 10, autosomal recessive

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
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:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0033715
hpo_term: Hippocampal sclerosis
chpo_term: 海马硬化
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0031993
hpo_term: Hoffmann sign
chpo_term: Hoffmann征
id: HP:0011449
hpo_term: Knee clonus
chpo_term: 膝阵挛
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
Disease (OMIM:138500):
HYPERGLYCINURIA
Glycinuria with or without oxalate urolithiasis

Associated phenotypes (HPO):
id: HP:0008672
hpo_term: Calcium oxalate nephrolithiasis
chpo_term: 草酸钙肾结石
id: HP:0003108
hpo_term: Hyperglycinuria
chpo_term: 高甘氨酸尿症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619781):
Myopia 28, autosomal recessive
MYOPIA 28, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
Disease (OMIM:617974):
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
Spondyloepimetaphyseal dysplasia, DI Rocco type

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0008833
hpo_term: Irregular acetabular roof
chpo_term: 不规则髋臼顶
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619959):
ACCES syndrome
ACCES SYNDROME

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0007385
hpo_term: Aplasia cutis congenita of scalp
chpo_term: 先天性头皮表皮发育不全
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100257
hpo_term: Ectrodactyly
chpo_term: 缺趾/指畸形
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
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:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300755):
Agammaglobulinemia, X-linked
AGAMMAGLOBULINEMIA, X-LINKED

Associated phenotypes (HPO):
id: HP:0005479
hpo_term: Decreased circulating IgE
chpo_term: 循环IgE水平降低
id: HP:0000024
hpo_term: Prostatitis
chpo_term: 前列腺炎
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003095
hpo_term: Septic arthritis
chpo_term: 化脓性关节炎
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0003729
hpo_term: Enteroviral dermatomyositis syndrome
chpo_term: 肠道病毒皮肌炎综合征
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0000999
hpo_term: Pyoderma
chpo_term: 脓皮病
id: HP:0001648
hpo_term: Cor pulmonale
chpo_term: 肺源性心脏病
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0410303
hpo_term: Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
chpo_term: 对B型流感嗜血杆菌（Hib）疫苗完全或几乎全无特异性抗体应答
id: HP:0002732
hpo_term: Lymph node hypoplasia
chpo_term: 淋巴结发育不全
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0011946
hpo_term: Bronchiolitis obliterans
chpo_term: 闭塞性细支气管炎
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0000031
hpo_term: Epididymitis
chpo_term: 附睾炎
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001412
hpo_term: Enteroviral hepatitis
chpo_term: 肠道病毒性肝炎
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:608840):
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000654
hpo_term: Decreased light- and dark-adapted electroretinogram amplitude
chpo_term: 光和暗适应视网膜电图振幅降低
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
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:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
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:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
Disease (OMIM:619795):
Osteogenesis imperfecta, type XXII
OSTEOGENESIS IMPERFECTA, TYPE XXII

Associated phenotypes (HPO):
id: HP:0005864
hpo_term: Pseudoarthrosis
chpo_term: 假关节
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0031429
hpo_term: Decreased circulating osteocalcin level
chpo_term: 循环骨钙素水平降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0004363
hpo_term: Abnormal circulating calcium concentration
chpo_term: 钙稳态平衡异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0100529
hpo_term: Abnormal blood phosphate concentration
chpo_term: 磷酸盐稳态平衡异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0005877
hpo_term: Multiple small vertebral fractures
chpo_term: 多发性小椎体骨折
id: HP:0005855
hpo_term: Multiple prenatal fractures
chpo_term: 多发性产前骨折
Disease (OMIM:617960):
Spermatogenic failure 25
SPERMATOGENIC FAILURE 25

Associated phenotypes (HPO):
id: HP:0030974
hpo_term: Cryptozoospermia
chpo_term: 隐匿精子症
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
id: HP:0031039
hpo_term: Early spermatogenesis maturation arrest
chpo_term: 早期生精阻滞
Disease (OMIM:620114):
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES
Neurodevelopmental disorder with speech impairment and with or without seizures

Associated phenotypes (HPO):
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
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: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:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000675
hpo_term: Macrodontia of permanent maxillary central incisor
chpo_term: 上颌恒中切牙巨齿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:246700):
Chylomicron retention disease
CHYLOMICRON RETENTION DISEASE

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003563
hpo_term: Decreased LDL cholesterol concentration
chpo_term: 低β-脂蛋白血症
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0034787
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
Disease (OMIM:613737):
ACNE INVERSA, FAMILIAL, 3
Acne inversa, familial, 3

Associated phenotypes (HPO):
id: HP:0012322
hpo_term: Perifolliculitis
chpo_term: 毛囊周炎
id: HP:0040154
hpo_term: Acne inversa
chpo_term: 化脓性汗腺炎
id: HP:0011132
hpo_term: Chronic furunculosis
chpo_term: 慢性疖病
id: HP:0100838
hpo_term: Recurrent cutaneous abscess formation
chpo_term: 复发性皮肤脓肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:261630):
Hyperphenylalaninemia, bh4-deficient, C
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:6000966
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
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:0004923
hpo_term: Hyperphenylalaninemia
chpo_term: 高苯丙氨酸血症
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:615346):
PRECOCIOUS PUBERTY, CENTRAL, 2
Precocious puberty, central, 2

Associated phenotypes (HPO):
id: HP:0012275
hpo_term: Autosomal dominant inheritance with maternal imprinting
chpo_term: 母源印记基因常染色体显性遗传
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0012411
hpo_term: Premature pubarche
chpo_term: 阴毛早现
id: HP:0010314
hpo_term: Premature thelarche
chpo_term: 乳房早熟
Disease (OMIM:618662):
Diarrhea 11, malabsorptive, congenital
DIARRHEA 11, MALABSORPTIVE, CONGENITAL

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:608471):
Corneal dystrophy, lattice type IIIA
CORNEAL DYSTROPHY, LATTICE TYPE IIIA

Associated phenotypes (HPO):
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0001149
hpo_term: Lattice corneal dystrophy
chpo_term: 格子样角膜营养不良
Disease (OMIM:616897):
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE

Associated phenotypes (HPO):
id: HP:0002265
hpo_term: Large fleshy ears
chpo_term: 肥大耳
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0100333
hpo_term: Unilateral cleft lip
chpo_term: 单侧唇裂
id: HP:0031107
hpo_term: Decreased fibular diameter
chpo_term: 腓骨直径减小
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0005855
hpo_term: Multiple prenatal fractures
chpo_term: 多发性产前骨折
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0006640
hpo_term: Multiple rib fractures
chpo_term: 多发性肋骨骨折
id: HP:0003978
hpo_term: Fractured radius
chpo_term: 骨折后的桡骨
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:617237):
Immunodeficiency 49
IMMUNODEFICIENCY 49

Associated phenotypes (HPO):
id: HP:0410378
hpo_term: Decreased proportion of naive CD4 T cells
chpo_term: 初始CD4 T 细胞比例减低
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
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:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0031545
hpo_term: Abnormally low T cell receptor excision circle level
chpo_term: T细胞受体重排删除环水平减低
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0003347
hpo_term: Impaired lymphocyte transformation with phytohemagglutinin
chpo_term: 植物血凝素淋巴细胞转化受损
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:116400):
CATARACT 41
Cataract, nuclear total

Associated phenotypes (HPO):
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传