TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:79406):
Late-onset junctional epidermolysis bullosa
JEB-lo
Epidermolysis bullosa progressiva
Late-onset JEB

Associated phenotypes (HPO):
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0007455
hpo_term: Adermatoglyphia
chpo_term: 皮纹病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0020117
hpo_term: Hypoplastic dermoepidermal hemidesmosomes
chpo_term: 真皮表皮交界处半小体发育不良
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
id: HP:0004386
hpo_term: Gastrointestinal inflammation
chpo_term: 胃肠道炎症
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0012252
hpo_term: Abnormal respiratory system morphology
chpo_term: 呼吸系统形态学异常
id: HP:0031464
hpo_term: Genital blistering
chpo_term: 生殖器水泡
Disease (ORPHA:99015):
Spastic gait type 2
SPG2
Spastic paraparesis type 2
Spastic paraplegia type 2
X-linked spastic paraplegia type 2

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0005340
hpo_term: Spastic/hyperactive bladder
chpo_term: 膀胱痉挛/过度活跃
Disease (ORPHA:231140):
Silver-Russell syndrome due to an imprinting defect of 11p15

Associated phenotypes (HPO):
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
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:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0000811
hpo_term: Abnormal external genitalia
chpo_term: 外生殖器异常
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
Disease (ORPHA:231147):
UPD(11)mat
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

Associated phenotypes (HPO):
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0030884
hpo_term: Gastrojejunal tube feeding in infancy
chpo_term: 婴儿胃空肠管饲
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
Disease (ORPHA:382):
GAMT deficiency
Guanidinoacetate methyltransferase deficiency

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0007153
hpo_term: Progressive extrapyramidal movement disorder
chpo_term: 进行性锥体外系功能障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002457
hpo_term: Abnormal head movements
chpo_term: 头部运动异常
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
Disease (ORPHA:79409):
RDEB-I
Recessive dystrophic epidermolysis bullosa inversa
RDEB inversa

Associated phenotypes (HPO):
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0004386
hpo_term: Gastrointestinal inflammation
chpo_term: 胃肠道炎症
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0031464
hpo_term: Genital blistering
chpo_term: 生殖器水泡
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
id: HP:0007446
hpo_term: Palmoplantar blistering
chpo_term: 掌跖起泡
id: HP:0012227
hpo_term: Urethral stricture
chpo_term: 尿道狭窄
id: HP:0025416
hpo_term: Vaginal stricture
chpo_term: 阴道狭窄
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0012252
hpo_term: Abnormal respiratory system morphology
chpo_term: 呼吸系统形态学异常
Disease (ORPHA:384):
Palmoplantar hyperkeratosis-sclerodactyly syndrome
Scleroatrophic syndrome
Palmoplantar keratoderma-sclerodactyly syndrome
Sclerotylosis
Huriez syndrome

Associated phenotypes (HPO):
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0011838
hpo_term: Sclerodactyly
chpo_term: 指硬皮病
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
Disease (ORPHA:231144):
Silver-Russell syndrome due to 11p15 microduplication

Associated phenotypes (HPO):
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:2719):
Oculocerebral hypopigmentation syndrome, Cross type
Cross 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:0000071
hpo_term: Ureteral stenosis
chpo_term: 输尿管狭窄
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0001139
hpo_term: Choroideremia
chpo_term: 无脉络膜症
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:381):
Griscelli syndrome
Griscelli-Pruniéras syndrome
Chédiak-Higashi-like syndrome
Partial albinism-immunodeficiency syndrome

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002218
hpo_term: Silver-gray hair
chpo_term: 银灰色毛发
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:380):
GCPS
Greig cephalopolysyndactyly syndrome

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
Disease (ORPHA:199306):
Cleft lip and palate
FLP
Cleft lip/palate
Cleft lip-alveolus-palate syndrome
Alveolar cleft lip and palate

Associated phenotypes (HPO):
id: HP:0006292
hpo_term: Abnormality of dental eruption
chpo_term: 牙萌出异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000220
hpo_term: Velopharyngeal insufficiency
chpo_term: 腭咽机能不全
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0100334
hpo_term: Unilateral cleft palate
chpo_term: 单侧腭裂
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0006342
hpo_term: Peg-shaped maxillary lateral incisors
chpo_term: 钉形上颌侧切牙
id: HP:0010294
hpo_term: Palate fistula
chpo_term: 腭瘘
id: HP:0011044
hpo_term: Abnormal number of permanent teeth
chpo_term: 恒牙数目异常
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0200153
hpo_term: Agenesis of lateral incisor
chpo_term: 侧切牙发育不全
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
Disease (ORPHA:2722):
Odonto-onycho dysplasia-alopecia syndrome

Associated phenotypes (HPO):
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:220497):
JS-R
Joubert syndrome with renal defect

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000864
hpo_term: Abnormality of the hypothalamus-pituitary axis
chpo_term: 下丘脑-垂体轴异常
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
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:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
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:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:2724):
Odontomatosis-aortae esophagus stenosis syndrome
Boder syndrome

Associated phenotypes (HPO):
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0011068
hpo_term: Odontoma
chpo_term: 牙瘤
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常