TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616649):
Spherocytosis, type 2
SPHEROCYTOSIS, TYPE 2

Associated phenotypes (HPO):
id: HP:0005502
hpo_term: Increased red cell osmotic fragility
chpo_term: 红细胞渗透脆性增加
id: HP:0004444
hpo_term: Spherocytosis
chpo_term: 球形红细胞增多症
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0001927
hpo_term: Acanthocytosis
chpo_term: 棘形红细胞增多症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:147891):
ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0005682
hpo_term: Talocalcaneal synostosis
chpo_term: 距-跟骨骨性连合
id: HP:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0008784
hpo_term: Wide capital femoral epiphyses
chpo_term: 股骨头骨骺增宽
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0008801
hpo_term: Hypoplasia of the lesser trochanter
chpo_term: 小转子发育低下
Disease (OMIM:611126):
Mitochondrial complex I deficiency, nuclear type 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
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:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
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:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:265450):
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
Pulmonary venoocclusive disease 1

Associated phenotypes (HPO):
id: HP:0006518
hpo_term: Pulmonary venous occlusion
chpo_term: 肺静脉闭塞
id: HP:0025180
hpo_term: Centrilobular ground-glass opacification on pulmonary HRCT
chpo_term: 肺部HRCT可见小叶中心性毛玻璃样结构
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0030848
hpo_term: Elevated jugular venous pressure
chpo_term: 颈静脉压升高
id: HP:0031687
hpo_term: Abnormally loud pulmonic component of the second heart sound
chpo_term: 第二心音的异常响亮肺闭塞音
id: HP:0030879
hpo_term: Interlobular septal thickening
chpo_term: 小叶间隔增厚
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:212800):
Cephalin lipidosis
CEPHALIN LIPIDOSIS

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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
Disease (OMIM:618664):
SPERMATOGENIC FAILURE 40
Spermatogenic failure 40

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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
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:600995):
NEPHROTIC SYNDROME, TYPE 2
Nephrotic syndrome, type 2

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:601453):
TRICHODENTAL DYSPLASIA
Trichodental dysplasia

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0000694
hpo_term: Odontodysplasia
chpo_term: 空壳牙
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
Disease (OMIM:615426):
Amyotrophic lateral sclerosis 20
AMYOTROPHIC LATERAL SCLEROSIS 20

Associated phenotypes (HPO):
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0100299
hpo_term: Muscle fiber inclusion bodies
chpo_term: 肌纤维包涵体
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:605635):
Hyperaldosteronism, familial, type II
HYPERALDOSTERONISM, FAMILIAL, TYPE II

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:254100):
Muscular dystrophy, congenital, with rapid progression
MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION

Associated phenotypes (HPO):
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:620310):
CONGENITAL MYOPATHY 20
Congenital myopathy 20

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0034675
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0010942
hpo_term: Echogenic intracardiac focus
chpo_term: 心室强光点
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0034391
hpo_term: Elbow contracture
chpo_term: 肘部挛缩
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:618857):
DIABETES MELLITUS, PERMANENT NEONATAL, 3
Diabetes mellitus, permanent neonatal 3, with or without neurologic features

Associated phenotypes (HPO):
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:250400):
Metaphyseal chondrodysplasia, Spahr type
METAPHYSEAL DYSPLASIA, SPAHR TYPE

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006409
hpo_term: Progressive leg bowing
chpo_term: 渐进式腿部弯曲
id: HP:0005871
hpo_term: Metaphyseal chondrodysplasia
chpo_term: 干骺端软骨发育不良
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0010886
hpo_term: Osteochondritis dissecans
chpo_term: 剥脱性骨软骨炎
id: HP:0006385
hpo_term: Short lower limbs
chpo_term: 下肢短
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0004979
hpo_term: Metaphyseal sclerosis
chpo_term: 干骺端硬化
Disease (OMIM:227850):
Fanconi-Like syndrome
FANCONI-LIKE SYNDROME

Associated phenotypes (HPO):
id: HP:0007606
hpo_term: Multiple cutaneous malignancies
chpo_term: 多发性皮肤恶性肿瘤
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0005939
hpo_term: Multiple bilateral pneumothoraces
chpo_term: 复发性双侧气胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
Disease (OMIM:238970):
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
id: HP:0006846
hpo_term: Acute encephalopathy
chpo_term: 急性脑病
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0200119
hpo_term: Acute hepatitis
chpo_term: 急性肝炎
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012026
hpo_term: Hyperornithinemia
chpo_term: 高鸟氨酸血症
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0034464
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002038
hpo_term: Protein avoidance
chpo_term: 蛋白质回避
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:613916):
Deafness, autosomal recessive 89
DEAFNESS, AUTOSOMAL RECESSIVE 89

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001756
hpo_term: Vestibular hypofunction
chpo_term: 前庭功能减退
Disease (OMIM:163700):
NIPPLES, SUPERNUMERARY
Nipples, supernumerary

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
Disease (OMIM:619585):
SPERMATOGENIC FAILURE 58
Spermatogenic failure 58

Associated phenotypes (HPO):
id: HP:0033393
hpo_term: Irregularly shaped sperm tail
chpo_term: 精子尾部畸形（不规则形状的精子尾）
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:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
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:609796):
PEELING SKIN SYNDROME 2
Peeling skin syndrome 2

Associated phenotypes (HPO):
id: HP:0034838
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
Disease (OMIM:611867):
CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL
Chromosome 22q11.2 deletion syndrome, distal

Associated phenotypes (HPO):
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
Disease (OMIM:167200):
Pachyonychia congenita, type 1
PACHYONYCHIA CONGENITA 1

Associated phenotypes (HPO):
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620462):
CARDIOMYOPATHY, DILATED, 2I
Cardiomyopathy, dilated, 2I

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0012666
hpo_term: Severely reduced left ventricular ejection fraction
chpo_term: 左心室射血分数严重降低
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:243440):
Isotretinoin embryopathy-like syndrome
ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000932
hpo_term: Abnormal posterior cranial fossa morphology
chpo_term: 后颅窝形态异常
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001710
hpo_term: Conotruncal defect
chpo_term: 圆锥动脉干缺损
Disease (OMIM:301101):
SPERMATOGENIC FAILURE, X-LINKED, 6
Spermatogenic failure, X-linked, 6

Associated phenotypes (HPO):
id: HP:0000032
hpo_term: Abnormality of male external genitalia
chpo_term: 男性外生殖器异常
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
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:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
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:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0032561
hpo_term: Microcephalic sperm head
chpo_term: 小头精子
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
Disease (OMIM:234810):
Pulmonary venoocclusive disease 2
PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE

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:0006518
hpo_term: Pulmonary venous occlusion
chpo_term: 肺静脉闭塞
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0025180
hpo_term: Centrilobular ground-glass opacification on pulmonary HRCT
chpo_term: 肺部HRCT可见小叶中心性毛玻璃样结构
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
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:0005954
hpo_term: Pulmonary capillary hemangiomatosis
chpo_term: 肺毛细血管瘤病
Disease (OMIM:613080):
46,XY SEX REVERSAL 5
46XY sex reversal 5

Associated phenotypes (HPO):
id: HP:0000055
hpo_term: Abnormality of female external genitalia
chpo_term: 女性外生殖器异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0030345
hpo_term: Abnormal circulating luteinizing hormone concentration
chpo_term: 血液黄体生成素水平异常
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011731
hpo_term: Abnormality of circulating cortisol level
chpo_term: 血皮质醇水平异常