TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:261519):
UPD(X)mat
Maternal uniparental disomy of chromosome X syndrome

Associated phenotypes (HPO):
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
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:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0003248
hpo_term: Gonadal tissue inappropriate for external genitalia or chromosomal sex
chpo_term: 性腺组织与外生殖器或染色体性别不相配
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:137686):
Asherman syndrome

Associated phenotypes (HPO):
id: HP:0000140
hpo_term: Abnormality of the menstrual cycle
chpo_term: 月经周期异常
id: HP:0000868
hpo_term: Decreased fertility in females
chpo_term: 女性生育能力降低
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0100607
hpo_term: Dysmenorrhea
chpo_term: 痛经
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
id: HP:0100767
hpo_term: Abnormal placenta morphology
chpo_term: 胎盘异常
Disease (ORPHA:1253):
Blepharochalasis-double lip syndrome
Ascher syndrome

Associated phenotypes (HPO):
id: HP:0000177
hpo_term: Abnormality of upper lip
chpo_term: 上唇异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
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
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0012724
hpo_term: Upper eyelid edema
chpo_term: 上眼睑水肿
Disease (ORPHA:1252):
Pashayan-Pruzansky syndrome
Blepharonasofacial malformation syndrome
Pashayan syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001304
hpo_term: Torsion dystonia
chpo_term: 扭转性肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:2582):
Myalgia-eosinophilia syndrome associated with tryptophan

Associated phenotypes (HPO):
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
Disease (ORPHA:2583):
Mycetoma
Madura foot

Associated phenotypes (HPO):
id: HP:0001015
hpo_term: Prominent superficial veins
chpo_term: 浅表静脉隆凸
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
id: HP:0003330
hpo_term: Abnormal bone structure
chpo_term: 骨结构异常
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0010219
hpo_term: Structural foot deformity
chpo_term: 足结构性畸形
id: HP:0030053
hpo_term: Stiff skin
chpo_term: 硬皮
id: HP:0031288
hpo_term: Cobblestone-like hyperkeratosis
chpo_term: 鹅卵石样角化过度
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0011844
hpo_term: Abnormal appendicular skeleton morphology
chpo_term: 肢带骨骨骼形态异常
id: HP:0025245
hpo_term: Cutaneous cyst
chpo_term: 皮肤囊肿
id: HP:0040072
hpo_term: Abnormal forearm bone morphology
chpo_term: 前臂骨形态异常
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
id: HP:0000152
hpo_term: Abnormality of head or neck
chpo_term: 头颈部异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0002661
hpo_term: Painless fractures due to injury
chpo_term: 外伤性无痛骨折
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
id: HP:0031501
hpo_term: Pelvic mass
chpo_term: 盆腔肿块
id: HP:0100809
hpo_term: Scalp tenderness
chpo_term: 头皮压痛
Disease (ORPHA:2584):
Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type

Associated phenotypes (HPO):
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:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0004332
hpo_term: Abnormal lymphocyte morphology
chpo_term: 淋巴细胞形态异常
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0012192
hpo_term: Cutaneous T-cell lymphoma
chpo_term: 皮肤T细胞淋巴瘤
id: HP:0025475
hpo_term: Erythematous macule
chpo_term: 红斑病
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0007488
hpo_term: Diffuse skin atrophy
chpo_term: 弥漫性皮肤萎缩
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
Disease (ORPHA:2585):
Ataxia-pancytopenia syndrome
Myelocerebellar disorder

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001908
hpo_term: Hypoplastic anemia
chpo_term: 发育不良性贫血
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0004311
hpo_term: Abnormal macrophage morphology
chpo_term: 巨噬细胞形态异常
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004820
hpo_term: Acute myelomonocytic leukemia
chpo_term: 急性粒单核细胞白血病
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0011869
hpo_term: Abnormal platelet function
chpo_term: 血小板功能异常
Disease (ORPHA:352577):
Bainbridge-Ropers syndrome
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Associated phenotypes (HPO):
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:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
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:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0004673
hpo_term: Decreased facial expression
chpo_term: 面部表情减少
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
Disease (ORPHA:1259):
Blepharoptosis-myopia-ectopia lentis syndrome

Associated phenotypes (HPO):
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
Disease (ORPHA:2589):
Myoclonus-cerebellar ataxia-hearing loss syndrome
Myoclonus-cerebellar ataxia-deafness syndrome

Associated phenotypes (HPO):
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
Disease (ORPHA:2570):
Morse-Rawnsley-Sargent syndrome
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002324
hpo_term: Hydranencephaly
chpo_term: 积水型无脑畸形
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
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:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0010662
hpo_term: Abnormality of the diencephalon
chpo_term: 间脑异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
Disease (ORPHA:2579):
Furukawa-Takagi-Nakao syndrome
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:139414):
Congenital panfollicular nevus

Associated phenotypes (HPO):
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0012500
hpo_term: Verrucous papule
chpo_term: 疣状丘疹
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
Disease (ORPHA:139411):
Carney triad

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
id: HP:0002668
hpo_term: Paraganglioma
chpo_term: 副神经节瘤
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002717
hpo_term: Adrenal overactivity
chpo_term: 肾上腺过度活跃
id: HP:0008256
hpo_term: Adrenocortical adenoma
chpo_term: 肾上腺皮质腺瘤
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100243
hpo_term: Leiomyosarcoma
chpo_term: 平滑肌肉瘤
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0100723
hpo_term: Gastrointestinal stroma tumor
chpo_term: 胃肠道间质肿瘤
Disease (ORPHA:1243):
Best vitelliform macular dystrophy
Vitelliform macular dystrophy type 2
Best disease
BVMD
Polymorphic vitelline macular degeneration
BMD
Juvenile-onset vitelliform macular dystrophy
Best macular dystrophy
Early-onset vitelliform macular dystrophy

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0001139
hpo_term: Choroideremia
chpo_term: 无脉络膜症
id: HP:0008028
hpo_term: Cystoid macular degeneration
chpo_term: 黄斑囊样变性
id: HP:0012508
hpo_term: Metamorphopsia
chpo_term: 视物变形
Disease (ORPHA:45358):
FEOM
Congenital fibrosis of extraocular muscles

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000542
hpo_term: Impaired ocular adduction
chpo_term: 眼内收障碍
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0001491
hpo_term: Congenital fibrosis of extraocular muscles
chpo_term: 先天性眼外肌纤维化
id: HP:0011347
hpo_term: Abnormality of ocular abduction
chpo_term: 眼球外展异常
id: HP:0012241
hpo_term: Levator palpebrae superioris atrophy
chpo_term: 上睑提肌萎缩
id: HP:0025721
hpo_term: Limited vertical extraocular movement
chpo_term: 眼球外肌垂直运动受限
id: HP:0030211
hpo_term: Slow pupillary light response
chpo_term: 瞳孔对光反应缓慢
id: HP:0030534
hpo_term: Abnormal best corrected visual acuity test
chpo_term: 最佳矫正视力测试异常
id: HP:6000709
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0001477
hpo_term: Compensatory chin elevation
chpo_term: 代偿性下巴抬高
id: HP:0007831
hpo_term: Nonprogressive restrictive external ophthalmoplegia
chpo_term: 非进行性限制性眼外肌麻痹
id: HP:0012547
hpo_term: Abnormal involuntary eye movements
chpo_term: 不自主眼球运动异常
id: HP:0025309
hpo_term: Abnormal pupil shape
chpo_term: 瞳孔形状异常
id: HP:0030588
hpo_term: Abnormal visual field test
chpo_term: 视野检查异常
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
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:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0025186
hpo_term: Marcus Gunn jaw winking synkinesis
chpo_term: Marcus-Gunn下颌眼睑联动综合征
id: HP:0032466
hpo_term: Aplasia of the olfactory bulb
chpo_term: 嗅球不发育
Disease (ORPHA:1241):
Bencze syndrome
Hemifacial hyperplasia-strabismus syndrome

Associated phenotypes (HPO):
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0005325
hpo_term: Extension of hair growth on temples to lateral eyebrow
chpo_term: 颞部头发连到眉梢
id: HP:0010807
hpo_term: Open bite
chpo_term: 开牙合
Disease (ORPHA:95619):
Post-traumatic pituitary deficiency

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
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:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0005625
hpo_term: Osteoporosis of vertebrae
chpo_term: 椎骨骨质疏松症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0040086
hpo_term: Abnormal prolactin level
chpo_term: 催乳素水平异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0009888
hpo_term: Abnormality of secondary sexual hair
chpo_term: 第二性征毛发异常
id: HP:0010311
hpo_term: Aplasia/Hypoplasia of the breasts
chpo_term: 乳房发育不全/不良