TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:508542):
MYSM1 deficiency
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

Associated phenotypes (HPO):
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001896
hpo_term: Reticulocytopenia
chpo_term: 网织细胞减少症
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006872
hpo_term: Cerebral hypoplasia
chpo_term: 脑发育不全
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0031688
hpo_term: Erythroid dysplasia
chpo_term: 红系发育不良
id: HP:0031689
hpo_term: Megakaryocyte dysplasia
chpo_term: 巨核细胞发育不良
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000916
hpo_term: Broad clavicles
chpo_term: 锁骨增宽
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0004991
hpo_term: Rhizomelic arm shortening
chpo_term: 肢根型手臂缩短
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0012817
hpo_term: Noncompaction cardiomyopathy
chpo_term: 心肌致密化不全
Disease (ORPHA:54247):
PCA
Posterior cortical atrophy
Benson syndrome
Biparietal Alzheimer disease

Associated phenotypes (HPO):
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002442
hpo_term: Dyscalculia
chpo_term: 计算困难
id: HP:0010523
hpo_term: Alexia
chpo_term: 失读症
id: HP:0010524
hpo_term: Agnosia
chpo_term: 失认
id: HP:0010525
hpo_term: Finger agnosia
chpo_term: 手指失认
id: HP:0010526
hpo_term: Dysgraphia
chpo_term: 书写困难
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0030217
hpo_term: Limb apraxia
chpo_term: 肢体失用症
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002494
hpo_term: Abnormal rapid eye movement sleep
chpo_term: 快速眼动期睡眠异常
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0030216
hpo_term: Inertia
chpo_term: 惰性
Disease (ORPHA:267):
Calpain-3-related limb-girdle muscular dystrophy R1
LGMD type 2A
Calpain-3-related LGMD R1
Autosomal recessive limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy due to calpain deficiency
LGMD2A
Primary calpainopathy

Associated phenotypes (HPO):
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003089
hpo_term: Hamstring contractures
chpo_term: 腘绳肌挛缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0005879
hpo_term: Congenital finger flexion contractures
chpo_term: 先天性手指屈曲挛缩
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008946
hpo_term: Pelvic girdle amyotrophy
chpo_term: 骨盆带肌萎缩
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009060
hpo_term: Scapular muscle atrophy
chpo_term: 肩胛肌萎缩
id: HP:0012037
hpo_term: Pectoralis amyotrophy
chpo_term: 胸肌萎缩
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
Disease (ORPHA:261):
Emery-Dreifuss muscular dystrophy
EDMD

Associated phenotypes (HPO):
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0004631
hpo_term: Decreased cervical spine flexion due to contractures of posterior cervical muscles
chpo_term: 颈后肌群挛缩致颈椎屈度下降
id: HP:0008948
hpo_term: Proximal upper limb amyotrophy
chpo_term: 上肢近端肌萎缩
id: HP:0008956
hpo_term: Proximal lower limb amyotrophy
chpo_term: 下肢近端肌肉萎缩
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0011807
hpo_term: Type 1 muscle fiber atrophy
chpo_term: 1型肌纤维萎缩
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030117
hpo_term: Absent muscle fiber emerin
chpo_term: 肌纤维emerin蛋白缺失
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0005115
hpo_term: Supraventricular arrhythmia
chpo_term: 室上性心律失常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0005155
hpo_term: Ventricular escape rhythm
chpo_term: 室性逸搏心律
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:1509):
Small patella syndrome
Scott-Taor syndrome
Ischiocoxopodopatellar syndrome
Coxopodopatellar syndrome
SPS
Ischiopubicpatellar syndrome
Ischiopatellar dysplasia

Associated phenotypes (HPO):
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006498
hpo_term: Aplasia/Hypoplasia of the patella
chpo_term: 髌骨发育不良/发育不全
Disease (ORPHA:324313):
9p13 microdeletion syndrome
Del(9)(p13)
Monosomy 9p13

Associated phenotypes (HPO):
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
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:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:3000022
hpo_term: Abnormality of cartilage of external ear
chpo_term: 外耳软骨异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0010489
hpo_term: Absent palmar crease
chpo_term: 手掌掌纹缺如
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
Disease (ORPHA:90796):
46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency

Associated phenotypes (HPO):
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
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:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
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:0008675
hpo_term: Enlarged polycystic ovaries
chpo_term: 增大的多囊卵巢
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:0012112
hpo_term: Abnormal circulating corticosterone level
chpo_term: 血液皮质酮水平异常
id: HP:0030349
hpo_term: Decreased circulating androgen concentration
chpo_term: 循环雄激素浓度降低
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0100607
hpo_term: Dysmenorrhea
chpo_term: 痛经
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000868
hpo_term: Decreased fertility in females
chpo_term: 女性生育能力降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008726
hpo_term: Hypoplasia of the vagina
chpo_term: 阴道发育不良
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0012041
hpo_term: Decreased fertility in males
chpo_term: 男性生育能力下降
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0008730
hpo_term: Female external genitalia in individual with 46,XY karyotype
chpo_term: 染色体核型为46,XY的个体具有女性外生殖器
id: HP:0012244
hpo_term: Abnormal sex determination
chpo_term: 性别决定异常
Disease (ORPHA:488613):
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
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:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
Disease (ORPHA:2843):
Pentosuria
Xylitol dehydrogenase deficiency
Essential pentosuria

Associated phenotypes (HPO):
id: HP:0011021
hpo_term: Abnormality of circulating enzyme level
chpo_term: 循环系统内酶浓度水平异常
id: HP:0031979
hpo_term: Abnormal urine carbohydrate level
chpo_term: 尿液碳水化合物水平异常
id: HP:0011013
hpo_term: Abnormal circulating carbohydrate concentration
chpo_term: 碳水化合物代谢/体内稳态平衡异常
Disease (ORPHA:90797):
PAIS
Partial androgen insensitivity syndrome
Partial androgen resistance syndrome

Associated phenotypes (HPO):
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0010463
hpo_term: Aplasia of the ovary
chpo_term: 卵巢发育不全
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:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0031102
hpo_term: Increased antimullerian hormone level
chpo_term: 抗苗勒氏管激素水平升高
id: HP:0040307
hpo_term: Male sexual dysfunction
chpo_term: 男性性功能障碍
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0025132
hpo_term: Abnormal circulating estrogen level
chpo_term: 循环雌激素水平异常
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0008189
hpo_term: Insulin insensitivity
chpo_term: 胰岛素不敏感
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0009888
hpo_term: Abnormality of secondary sexual hair
chpo_term: 第二性征毛发异常
id: HP:0025134
hpo_term: Increased serum estradiol
chpo_term: 血清雌二醇增多
id: HP:0025486
hpo_term: Fused labia majora
chpo_term: 融合大阴唇
id: HP:0040314
hpo_term: Blind vagina
chpo_term: 盲端阴道
id: HP:0100728
hpo_term: Germ cell neoplasia
chpo_term: 生殖细胞瘤
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
Disease (ORPHA:289483):
Intellectual disability-alacrima-achalasia syndrome

Associated phenotypes (HPO):
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000834
hpo_term: Abnormality of the adrenal glands
chpo_term: 肾上腺异常
Disease (ORPHA:2847):
Pericardial and diaphragmatic defect

Associated phenotypes (HPO):
id: HP:0009112
hpo_term: Aplasia of the left hemidiaphragm
chpo_term: 左侧膈肌发育不良
id: HP:0011635
hpo_term: Partial diaphragmatic absence of pericardium
chpo_term: 部分型膈面心包缺失
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002245
hpo_term: Meckel diverticulum
chpo_term: Meckel憩室
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0012718
hpo_term: Morphological abnormality of the gastrointestinal tract
chpo_term: 胃肠道形态异常
id: HP:0100632
hpo_term: Pulmonary sequestration
chpo_term: 肺隔离症
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:2848):
Pericarditis-arthropathy-camptodactyly syndrome
Arthropathy-camptodactyly syndrome
CACP syndrome
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Associated phenotypes (HPO):
id: HP:0001225
hpo_term: Wrist swelling
chpo_term: 腕肿胀
id: HP:0001836
hpo_term: Camptodactyly of toe
chpo_term: 脚趾屈曲畸形
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003940
hpo_term: Osteoarthritis of the elbow
chpo_term: 肘关节骨性关节炎
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0005195
hpo_term: Polyarticular arthropathy
chpo_term: 多关节病
id: HP:0008812
hpo_term: Flattened femoral head
chpo_term: 股骨头扁平
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0008610
hpo_term: Infantile sensorineural hearing impairment
chpo_term: 婴幼儿感音神经性听力损失
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0033331
hpo_term: Acute phase response
chpo_term: 急性期反应
Disease (ORPHA:2849):
Perlman syndrome
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000177
hpo_term: Abnormality of upper lip
chpo_term: 上唇异常
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000187
hpo_term: Broad alveolar ridges
chpo_term: 宽牙槽嵴
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0012090
hpo_term: Abnormal pancreas morphology
chpo_term: 胰腺形态异常
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0010733
hpo_term: Naevus flammeus of the eyelid
chpo_term: 眼睑鲜红斑痣
id: HP:0100541
hpo_term: Femoral hernia
chpo_term: 股疝