TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:91412):
Marcus-Gunn phenomenon
Mandibulo-palpebral synkinesis-ptosis syndrome
Marcus-Gunn syndrome
Jaw-winking syndrome

Associated phenotypes (HPO):
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0007687
hpo_term: Unilateral ptosis
chpo_term: 单侧上睑下垂
id: HP:0010824
hpo_term: Abnormal fifth cranial nerve morphology
chpo_term: 第V颅神经形态异常
id: HP:0025584
hpo_term: Hypotropia
chpo_term: 下斜视
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0012803
hpo_term: Anisometropia
chpo_term: 屈光参差
id: HP:0020041
hpo_term: Double elevator palsy
chpo_term: 双下转肌麻痹
id: HP:0031747
hpo_term: Superior rectus muscle underaction
chpo_term: 上直肌欠活跃
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0025514
hpo_term: Morning glory anomaly
chpo_term: 牵牛花样视盘发育异常
id: HP:0031703
hpo_term: Abnormal ear morphology
chpo_term: 耳形态异常
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
Disease (ORPHA:91414):
Pilomatrixoma
Epithelioma calcificans of Malherbe
Pilomatricoma

Associated phenotypes (HPO):
id: HP:0030434
hpo_term: Pilomatrixoma
chpo_term: 毛母质瘤
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0012288
hpo_term: Neoplasm of head and neck
chpo_term: 头颈部肿瘤
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0033559
hpo_term: Anti-myeloperoxidase antibody positivity
chpo_term: 抗髓过氧化物酶抗体阳性
Disease (ORPHA:2616):
3M syndrome
3-M syndrome
Yakut short stature syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
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:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000888
hpo_term: Horizontal ribs
chpo_term: 横位肋骨
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0003175
hpo_term: Hypoplastic ischia
chpo_term: 坐骨发育不全
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
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:0004570
hpo_term: Increased vertebral height
chpo_term: 椎体高度增加
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
Disease (ORPHA:2617):
Microcephalic primordial dwarfism, Montreal type
Bird-headed dwarfism, Montreal type

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0004399
hpo_term: Congenital pyloric atresia
chpo_term: 先天性幽门闭锁
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0009721
hpo_term: Shagreen patch
chpo_term: 鲨鱼皮样斑
id: HP:0010807
hpo_term: Open bite
chpo_term: 开牙合
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
Disease (ORPHA:91416):
Isolated congenital alacrima

Associated phenotypes (HPO):
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007732
hpo_term: Lacrimal gland hypoplasia
chpo_term: 泪腺发育不全
id: HP:0009743
hpo_term: Distichiasis
chpo_term: 双行睫
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0007820
hpo_term: Lacrimal punctal atresia
chpo_term: 泪点闭锁
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
Disease (ORPHA:2619):
Mseleni joint disease
Brachydactylous dwarfism, Mseleni type

Associated phenotypes (HPO):
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002654
hpo_term: Multiple epiphyseal dysplasia
chpo_term: 多发性骨骺发育不良
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0003368
hpo_term: Abnormal femoral head morphology
chpo_term: 股骨头形态异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0005872
hpo_term: Brachytelomesophalangy
chpo_term: 中远节指（趾）骨缩短
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003940
hpo_term: Osteoarthritis of the elbow
chpo_term: 肘关节骨性关节炎
id: HP:0009742
hpo_term: Stiff shoulders
chpo_term: 肩部僵硬
id: HP:0032153
hpo_term: Joint subluxation
chpo_term: 关节半脱位
id: HP:0003179
hpo_term: Protrusio acetabuli
chpo_term: 髋臼内陷
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0012649
hpo_term: Increased inflammatory response
chpo_term: 炎症反应增强
Disease (ORPHA:33543):
Kleine-Levin syndrome

Associated phenotypes (HPO):
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0007200
hpo_term: Episodic hypersomnia
chpo_term: 发作性嗜睡
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0007057
hpo_term: Poor hand-eye coordination
chpo_term: 手眼协调性差
id: HP:0008762
hpo_term: Repetitive compulsive behavior
chpo_term: 重复强迫行为
id: HP:0010534
hpo_term: Transient global amnesia
chpo_term: 短暂性全面性遗忘症
id: HP:0012658
hpo_term: Abnormal brain FDG positron emission tomography
chpo_term: 脑FDG正电子发射断层扫描异常
id: HP:5200321
id: HP:0031249
hpo_term: Parageusia
chpo_term: 味觉倒错
id: HP:0034004
hpo_term: Parosmia
chpo_term: 嗅觉倒错
id: HP:0100738
hpo_term: Abnormal eating behavior
chpo_term: 进食行为异常
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002519
hpo_term: Hypnagogic hallucinations
chpo_term: 睡前幻觉
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0025233
hpo_term: Sleep paralysis
chpo_term: 睡眠瘫痪
id: HP:0030221
hpo_term: Sweet craving
chpo_term: 嗜甜食
id: HP:0031217
hpo_term: Hot flashes
chpo_term: 热潮红
id: HP:0046504
hpo_term: Decreased libido
chpo_term: 性欲减退
id: HP:5200218
Disease (ORPHA:2611):
Linear hamartoma syndrome
Linear verrucous nevus syndrome

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
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:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
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:0008060
hpo_term: Aplasia/Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育缺陷/不全
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0100006
hpo_term: Neoplasm of the central nervous system
chpo_term: 中枢神经系统的肿瘤
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0012500
hpo_term: Verrucous papule
chpo_term: 疣状丘疹
Disease (ORPHA:254361):
Limb-girdle muscular dystrophy type 2Q
LGMD2Q
Plectin-related LGMD R17
Autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD type 2Q
Plectin-related limb-girdle muscular dystrophy R17

Associated phenotypes (HPO):
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0040287
hpo_term: Axial muscle atrophy
chpo_term: 中轴肌萎缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0040266
hpo_term: Proximal upper limb muscle hypertrophy
chpo_term: 上肢近端肌肉肥大
id: HP:0430025
hpo_term: Bilateral facial palsy
chpo_term: 双侧面瘫
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0004631
hpo_term: Decreased cervical spine flexion due to contractures of posterior cervical muscles
chpo_term: 颈后肌群挛缩致颈椎屈度下降
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0011950
hpo_term: Bronchiolitis
chpo_term: 细支气管炎
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0030208
hpo_term: Anti-acetylcholine receptor antibody positivity
chpo_term: 抗乙酰胆碱受体抗体阳性
Disease (ORPHA:293725):
Blepharophimosis-intellectual disability syndrome, Verloes type
BMRS, Verloes type
BMRS type V
Blepharophimosis-intellectual disability syndrome type V

Associated phenotypes (HPO):
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0100587
hpo_term: Abnormal preputium morphology
chpo_term: 包皮形态异常
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000395
hpo_term: Prominent antihelix
chpo_term: 对耳轮突出
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000807
hpo_term: Glandular hypospadias
chpo_term: 阴茎头型尿道下裂
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002190
hpo_term: Choroid plexus cyst
chpo_term: 脉络丛囊肿
id: HP:0002339
hpo_term: Abnormal caudate nucleus morphology
chpo_term: 尾状核形态异常
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0011251
hpo_term: Underdeveloped antitragus
chpo_term: 对耳屏发育不良
Disease (ORPHA:623789):
BIID
BID
Body integrity dysphoria
Body integrity identity disorder

Associated phenotypes (HPO):
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0008441
hpo_term: Herniation of intervertebral nuclei
chpo_term: 椎间盘髓核疝出
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0100738
hpo_term: Abnormal eating behavior
chpo_term: 进食行为异常
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:564003):
Freiberg infraction
Avascular necrosis of the metatarsal bone
Osteochondrosis of the metatarsal bone
Freiberg disease

Associated phenotypes (HPO):
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0005187
hpo_term: Progressive joint destruction
chpo_term: 关节渐进性受损
id: HP:0005194
hpo_term: Flattened metatarsal heads
chpo_term: 扁平跖骨头
id: HP:0010219
hpo_term: Structural foot deformity
chpo_term: 足结构性畸形
id: HP:0010630
hpo_term: Abnormality of metatarsal epiphysis
chpo_term: 跖骨骨骺异常
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0025238
hpo_term: Foot pain
chpo_term: 足痛
id: HP:0040034
hpo_term: Abnormality of the second metatarsal bone
chpo_term: 第二跖骨异常
id: HP:0040188
hpo_term: Osteochondrosis
chpo_term: 骨软骨炎
id: HP:0100039
hpo_term: Thickened cortex of bones
chpo_term: 骨皮质增厚
id: HP:0100662
hpo_term: Chondritis
chpo_term: 软骨炎
id: HP:0100925
hpo_term: Sclerosis of foot bone
chpo_term: 足骨硬化
id: HP:0010672
hpo_term: Abnormality of the third metatarsal bone
chpo_term: 第三跖骨异常
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0008089
hpo_term: Abnormality of the fifth metatarsal bone
chpo_term: 第五跖骨异常
id: HP:0040035
hpo_term: Abnormality of the fourth metatarsal bone
chpo_term: 第四跖骨异常
Disease (ORPHA:2604):
Familial hollow visceral myopathy
Megaduodenum and/or megacystis
Familial visceral myopathy
Hereditary hollow visceral myopathy

Associated phenotypes (HPO):
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
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:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000843
hpo_term: Hyperparathyroidism
chpo_term: 甲状旁腺功能亢进症
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0003363
hpo_term: Abdominal situs inversus
chpo_term: 腹部内脏逆位
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:2608):
N syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0005517
hpo_term: T-cell lymphoma/leukemia
chpo_term: T细胞淋巴瘤/白血病
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0012372
hpo_term: Abnormal eye morphology
chpo_term: 眼部形态异常
Disease (ORPHA:254351):
Distal del(7)(q11.23)
Distal 7q11.23 microdeletion syndrome
Distal monosomy 7q11.23

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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: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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
Disease (ORPHA:313892):
Developmental and speech delay due to SOX5 deficiency

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002711
hpo_term: Exaggerated median tongue furrow
chpo_term: 夸张的正中舌沟
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0005659
hpo_term: Thoracic kyphoscoliosis
chpo_term: 胸椎后侧凸
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为