TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:300750):
Spastic paraplegia 34, X-linked
SPASTIC PARAPLEGIA 34, X-LINKED

Associated phenotypes (HPO):
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:109900):
Blepharochalasis and double lip
BLEPHAROCHALASIS AND DOUBLE LIP

Associated phenotypes (HPO):
id: HP:0010749
hpo_term: Blepharochalasis
chpo_term: 眼皮松弛
id: HP:0040295
hpo_term: Duplication of the upper lip
chpo_term: 双上唇
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
Disease (OMIM:610978):
CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
Choreoathetosis, hypothyroidism, and neonatal respiratory distress

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0030874
hpo_term: Oxygen desaturation on exertion
chpo_term: 用力时血氧饱和度下降
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0032976
hpo_term: Elevated bronchoalveolar lavage fluid lymphocyte proportion
chpo_term: 支气管肺泡灌洗液淋巴细胞比例升高
id: HP:0032977
hpo_term: Elevated bronchoalveolar lavage fluid neutrophil proportion
chpo_term: 支气管肺泡灌洗液中性粒细胞比例升高
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0025394
hpo_term: Cystic pattern on pulmonary HRCT
chpo_term: 肺部HRCT可见囊状结构
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0032177
hpo_term: Parenchymal consolidation
chpo_term: 肺实变
id: HP:0009797
hpo_term: Cholesteatoma
chpo_term: 胆脂瘤
id: HP:0008223
hpo_term: Compensated hypothyroidism
chpo_term: 代偿性甲状腺功能减退症
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: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:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:161470):
NASAL ALAR COLLAPSE, BILATERAL
Nasal alar collapse, bilateral

Associated phenotypes (HPO):
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:604919):
BECKER NEVUS SYNDROME
Becker nevus syndrome

Associated phenotypes (HPO):
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0012813
hpo_term: Unilateral breast hypoplasia
chpo_term: 单侧乳房发育不良
Disease (OMIM:125540):
DERMAL RIDGES, PATTERNLESS
Dermal ridges, patternless

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:609583):
JOUBERT SYNDROME 4
Joubert syndrome 4

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0011933
hpo_term: Elongated superior cerebellar peduncle
chpo_term: 小脑上脚延长
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0100957
hpo_term: Abnormal renal medulla morphology
chpo_term: 肾髓质形态异常
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002404
hpo_term: Thickened superior cerebellar peduncle
chpo_term: 小脑上脚增厚
Disease (OMIM:617965):
SPERMATOGENIC FAILURE 27
Spermatogenic failure 27

Associated phenotypes (HPO):
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
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:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0033525
hpo_term: Absent sperm axoneme central pair complex
chpo_term: 精子轴丝中心对复合体缺失
id: HP:0032558
hpo_term: Absent sperm flagella
chpo_term: 精子鞭毛缺失
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
Disease (OMIM:619790):
OCULOPHARYNGODISTAL MYOPATHY 4
Oculopharyngodistal myopathy 4

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0003736
hpo_term: Autophagic vacuoles
chpo_term: 自噬空泡
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:620111):
Charcot-Marie-Tooth disease, demyelinating, type 1J
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003393
hpo_term: Thenar muscle atrophy
chpo_term: 鱼际肌萎缩
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:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
Disease (OMIM:615182):
Combined D-2- and L-2-hydroxyglutaric aciduria
COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:6000246
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0012402
hpo_term: Increased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸浓度增高
id: HP:6000509
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0040144
hpo_term: L-2-hydroxyglutaric aciduria
chpo_term: L-2-羟基戊二酸尿症
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:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0033092
hpo_term: Increased urine succinate level
chpo_term: 尿琥珀酸水平升高
Disease (OMIM:201300):
Neuropathy, hereditary sensory and autonomic, type II
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001069
hpo_term: Episodic hyperhidrosis
chpo_term: 发作性多汗症
id: HP:0002661
hpo_term: Painless fractures due to injury
chpo_term: 外伤性无痛骨折
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0007460
hpo_term: Autoamputation of digits
chpo_term: 手指（足趾）自发性离断
id: HP:0008000
hpo_term: Decreased corneal reflex
chpo_term: 角膜反射减退
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001818
hpo_term: Paronychia
chpo_term: 甲沟炎
id: HP:0006121
hpo_term: Acral ulceration
chpo_term: 肢端溃疡
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:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0000224
hpo_term: Hypogeusia
chpo_term: 味觉减退
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001842
hpo_term: Foot acroosteolysis
chpo_term: 足趾端溶骨
Disease (OMIM:606840):
Faciomandibular myoclonus, nocturnal
PARASOMNIA, SLEEP BRUXISM TYPE

Associated phenotypes (HPO):
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:620139):
Combined oxidative phosphorylation deficiency 56
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
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:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:248700):
Marden-Walker syndrome
MARDEN-WALKER SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
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:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0005329
hpo_term: Fixed facial expression
chpo_term: 面部表情木讷
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
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:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
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:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
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:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0002044
hpo_term: Zollinger-Ellison syndrome
chpo_term: Zollinger-Ellison 综合征
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0007068
hpo_term: Inferior cerebellar vermis hypoplasia
chpo_term: 下小脑蚓发育不全
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
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
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:602398):
DESMOSTEROLOSIS
Desmosterolosis

Associated phenotypes (HPO):
id: HP:0034937
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0003107
hpo_term: Abnormal circulating cholesterol concentration
chpo_term: 胆固醇代谢异常
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0000169
hpo_term: Gingival fibromatosis
chpo_term: 牙龈纤维瘤病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000061
hpo_term: Ambiguous genitalia, female
chpo_term: 女性外阴性别不明
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0009085
hpo_term: Alveolar ridge overgrowth
chpo_term: 牙槽嵴增生
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0005789
hpo_term: Generalized osteosclerosis
chpo_term: 周身性骨硬化
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005281
hpo_term: Hypoplastic nasal bridge
chpo_term: 鼻梁发育不全
id: HP:0005160
hpo_term: Total anomalous pulmonary venous return
chpo_term: 完全性肺静脉回流异常
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:604931):
Cortisone reductase deficiency 1
CORTISONE REDUCTASE DEFICIENCY 1

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
Disease (OMIM:276822):
Ulnar agenesis and endocardial fibroelastosis
ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS

Associated phenotypes (HPO):
id: HP:0003982
hpo_term: Aplasia of the ulna
chpo_term: 尺骨缺如
id: HP:0001706
hpo_term: Endocardial fibroelastosis
chpo_term: 心内膜弹力纤维增生症
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
Disease (OMIM:113970):
BURKITT LYMPHOMA
Burkitt lymphoma

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0030080
hpo_term: Burkitt lymphoma
chpo_term: Burkitt淋巴瘤
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷