TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:425500):
HAIRY EARS, Y-LINKED

Associated phenotypes (HPO):
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
Disease (OMIM:612300):
HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0004818
hpo_term: Paroxysmal nocturnal hemoglobinuria
chpo_term: 阵发性睡眠性血红蛋白尿症
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
Disease (OMIM:191520):
Upington disease
UPINGTON DISEASE

Associated phenotypes (HPO):
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008812
hpo_term: Flattened femoral head
chpo_term: 股骨头扁平
id: HP:0005701
hpo_term: Multiple enchondromatosis
chpo_term: 多发性内生软骨瘤
Disease (OMIM:614017):
Ciliary dyskinesia, primary, 16
CILIARY DYSKINESIA, PRIMARY, 16

Associated phenotypes (HPO):
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0012256
hpo_term: Absent outer dynein arms
chpo_term: 外动力蛋白臂缺失
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0012262
hpo_term: Abnormal ciliary motility
chpo_term: 纤毛运动障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:301835):
ARTS SYNDROME
Arts syndrome

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0008311
hpo_term: Spinal cord posterior columns myelin loss
chpo_term: 脊髓后柱髓鞘脱失
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:610265):
DEAFNESS, AUTOSOMAL RECESSIVE 67
Deafness, autosomal recessive 67

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001098
hpo_term: Abnormal fundus morphology
chpo_term: 眼底形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:606407):
HYPOTONIA-CYSTINURIA SYNDROME
Hypotonia-cystinuria syndrome

Associated phenotypes (HPO):
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0003131
hpo_term: Cystinuria
chpo_term: 胱氨酸尿症
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0033067
hpo_term: Cystine crystalluria
chpo_term: 胱氨酸结晶尿
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
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:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:609734):
Obesity, early-onset, with adrenal insufficiency and red hair
OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR

Associated phenotypes (HPO):
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0002297
hpo_term: Red hair
chpo_term: 红发
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033579
hpo_term: Decreased growth hormone responses to growth hormone-releasing hormone challenge
chpo_term: 生长激素释放激素激发后生长激素分泌不足
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
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:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:274500):
THYROID DYSHORMONOGENESIS 2A
Thyroid hormonogenesis, genetic defect in, 2A

Associated phenotypes (HPO):
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0008263
hpo_term: Thyroid defect in oxidation and organification of iodide
chpo_term: 甲状腺碘氧化和有机化缺陷
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:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
Disease (OMIM:619527):
Pontocerebellar hypoplasia, type 16
PONTOCEREBELLAR HYPOPLASIA, TYPE 16

Associated phenotypes (HPO):
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:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:616172):
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Generalized epilepsy with febrile seizures plus, type 9

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
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:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609052):
Spondylometaphyseal dysplasia, type A4
SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004699
hpo_term: Osteoporotic metatarsal
chpo_term: 跖骨骨质疏松
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0005041
hpo_term: Irregular capital femoral epiphysis
chpo_term: 股骨头骨骺不规则
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0100865
hpo_term: Broad ischia
chpo_term: 坐骨增宽
id: HP:0003918
hpo_term: Sclerotic humeral metaphysis
chpo_term: 肱骨干骺端硬化
id: HP:0008076
hpo_term: Osteoporotic tarsals
chpo_term: 跗骨骨质疏松
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000920
hpo_term: Enlargement of the costochondral junction
chpo_term: 肋软骨交界处膨大
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0004979
hpo_term: Metaphyseal sclerosis
chpo_term: 干骺端硬化
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0006369
hpo_term: Irregular patellae
chpo_term: 不规则髌骨
id: HP:0006623
hpo_term: Costochondral joint sclerosis
chpo_term: 肋软骨关节硬化
Disease (OMIM:612843):
Keratosis follicularis spinulosa decalvans, autosomal dominant
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0025084
hpo_term: Folliculitis
chpo_term: 毛囊炎
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
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:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0030054
hpo_term: Perifollicular fibrosis
chpo_term: 毛囊周围纤维化
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:313000):
Spatial visualization, aptitude for
SPATIAL VISUALIZATION, APTITUDE FOR

Associated phenotypes (HPO):
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
Disease (OMIM:120300):
COLOBOMA OF MACULA
Coloboma of macula

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001116
hpo_term: Macular coloboma
chpo_term: 黄斑缺损
Disease (OMIM:620629):
OPTIC ATROPHY 16
Optic atrophy 16

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0012511
hpo_term: Temporal optic disc pallor
chpo_term: 颞侧视盘苍白
Disease (OMIM:300068):
ANDROGEN INSENSITIVITY SYNDROME
Androgen insensitivity syndrome

Associated phenotypes (HPO):
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0002550
hpo_term: Absent facial hair
chpo_term: 面部毛发稀疏
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:0040314
hpo_term: Blind vagina
chpo_term: 盲端阴道
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
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: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:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
Disease (OMIM:617091):
Ciliary dyskinesia, primary, 34
CILIARY DYSKINESIA, PRIMARY, 34

Associated phenotypes (HPO):
id: HP:0012264
hpo_term: Absent central microtubular pair morphology of respiratory motile cilia
chpo_term: 运动纤毛细胞中央成对微管形态缺失
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0033158
hpo_term: Reduced respiratory ciliary beating frequency
chpo_term: 呼吸纤毛摆动频率异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:213000):
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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: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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:615686):
Spastic paraplegia 63, autosomal recessive
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0012407
hpo_term: Scissor gait
chpo_term: 剪刀步态
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:164230):
Obsessive-Compulsive disorder 1
OBSESSIVE-COMPULSIVE DISORDER

Associated phenotypes (HPO):
id: HP:0012166
hpo_term: Skin-picking
chpo_term: 皮肤剔除
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0030212
hpo_term: Collectionism
chpo_term: 收藏癖
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:217500):
CORNEAL DYSTROPHY, BAND-SHAPED
Corneal dystrophy, band-shaped

Associated phenotypes (HPO):
id: HP:0007709
hpo_term: Band-shaped corneal dystrophy
chpo_term: 带状角膜营养不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:619902):
HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
Hepatorenocardiac degenerative fibrosis

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0005565
hpo_term: Reduced renal corticomedullary differentiation
chpo_term: 肾皮髓质分界模糊
id: HP:0032948
hpo_term: Renal interstitial fibrosis
chpo_term: 肾间质纤维化
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0032622
hpo_term: Tubular luminal dilatation
chpo_term: 肾小管腔扩张
id: HP:0012852
hpo_term: Hepatic bridging fibrosis
chpo_term: 肝桥接性纤维化
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
Disease (OMIM:228900):
DU PAN SYNDROME
Fibular hypoplasia and complex brachydactyly

Associated phenotypes (HPO):
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001772
hpo_term: Talipes equinovalgus
chpo_term: 马蹄外翻足
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0010624
hpo_term: Aplastic/hypoplastic toenail
chpo_term: 趾甲发育缺陷/不全
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0006092
hpo_term: Malaligned carpal bone
chpo_term: 腕骨错位
id: HP:0010760
hpo_term: Absent toe
chpo_term: 脚趾缺失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0008119
hpo_term: Deformed tarsal bones
chpo_term: 跗骨变形
Disease (OMIM:620173):
Tooth agenesis, selective, 10
TOOTH AGENESIS, SELECTIVE, 10

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形