TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1756):
Caudal duplication
Split notochord syndrome
Dipygus

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000036
hpo_term: Abnormal penis morphology
chpo_term: 阴茎形态异常
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0005107
hpo_term: Abnormal sacrum morphology
chpo_term: 骶骨形态异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0009791
hpo_term: Bifid sacrum
chpo_term: 骶骨裂
id: HP:0100561
hpo_term: Spinal cord lesion
chpo_term: 脊髓病变
id: HP:0100589
hpo_term: Urogenital fistula
chpo_term: 泌尿生殖道瘘
id: HP:0100668
hpo_term: Intestinal duplication
chpo_term: 肠重复
Disease (ORPHA:35737):
Ectasic coloboma
Morning glory syndrome
Morning glory disc anomaly

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:155878):
Submucosal cleft palate

Associated phenotypes (HPO):
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0011469
hpo_term: Nasal regurgitation
chpo_term: 鼻腔返流
id: HP:5201016
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
Disease (ORPHA:231237):
Delta-beta-thalassemia

Associated phenotypes (HPO):
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
Disease (ORPHA:363710):
Spinocerebellar ataxia with altered vertical eye movements
SCA37
Spinocerebellar ataxia type 37

Associated phenotypes (HPO):
id: HP:0000549
hpo_term: Abnormal conjugate eye movement
chpo_term: 眼球共轭运动异常
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
id: HP:0002406
hpo_term: Limb dysmetria
chpo_term: 肢体辨距不良
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0100275
hpo_term: Diffuse cerebellar atrophy
chpo_term: 弥漫性小脑萎缩
Disease (ORPHA:1742):
Duplication 5p
Trisomy of the short arm of chromosome 5
Trisomy 5p syndrome
Duplication of the short arm of chromosome 5

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:485350):
CLCN4-related X-linked intellectual disability syndrome
Raynaud-Claes syndrome

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011167
hpo_term: Focal tonic seizure
chpo_term: 局灶性强直发作
id: HP:0011193
hpo_term: EEG with focal spikes
chpo_term: 脑电图，局灶性棘波
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
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:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:1747):
Trisomy 7 mosaicism
Mosaic trisomy 7 syndrome
Mosaic trisomy chromosome 7

Associated phenotypes (HPO):
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0007483
hpo_term: Depigmentation/hyperpigmentation of skin
chpo_term: 皮肤色素脱失/色素沉着
id: HP:0007988
hpo_term: Macular hypopigmentation
chpo_term: 黄斑色素减退
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
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:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0010878
hpo_term: Fetal cystic hygroma
chpo_term: 胎儿囊状水瘤
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
Disease (ORPHA:1745):
Telomeric duplication 6p
Distal duplication 6p syndrome
Trisomy 6pter
Distal trisomy 6p

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
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:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
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:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0009896
hpo_term: Abnormal antitragus morphology
chpo_term: 对耳屏形态异常
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0100818
hpo_term: Long thorax
chpo_term: 长胸廓
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:231242):
C-beta-thalassemia
HbC-beta-thalassemia syndrome
Hemoglobin C-beta-thalassemia syndrome

Associated phenotypes (HPO):
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
Disease (ORPHA:209335):
Finkel disease
Autosomal dominant late-onset spinal muscular atrophy, Finkel type
SMAFK
Autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant adult-onset proximal SMA

Associated phenotypes (HPO):
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
Disease (ORPHA:252164):
Peripheral fibroblastoma
Neurilemmoma
Benign schwannoma
Neurilemoma

Associated phenotypes (HPO):
id: HP:0000197
hpo_term: Abnormal parotid gland morphology
chpo_term: 腮腺形态异常
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000769
hpo_term: Abnormality of the breast
chpo_term: 乳房异常
id: HP:0000834
hpo_term: Abnormality of the adrenal glands
chpo_term: 肾上腺异常
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001600
hpo_term: Abnormality of the larynx
chpo_term: 喉部异常
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0002031
hpo_term: Abnormal esophagus morphology
chpo_term: 食管形态结构异常
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0003489
hpo_term: Acute episodes of neuropathic symptoms
chpo_term: 神经性症状急性发作
id: HP:0009588
hpo_term: Vestibular schwannoma
chpo_term: 前庭神经鞘瘤
id: HP:0009593
hpo_term: Peripheral Schwannoma
chpo_term: 周围神经鞘瘤
id: HP:0009911
hpo_term: Abnormal temporal bone morphology
chpo_term: 颞骨形态异常
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0010826
hpo_term: Abnormality of the twelfth cranial nerve
chpo_term: 第十二对颅神经异常
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030177
hpo_term: Abnormality of peripheral nervous system electrophysiology
chpo_term: 周围神经系统电生理异常
id: HP:0012533
hpo_term: Allodynia
chpo_term: 痛觉过敏
id: HP:0100008
hpo_term: Schwannoma
chpo_term: 神经鞘瘤
id: HP:0100011
hpo_term: Scleral schwannoma
chpo_term: 巩膜神经鞘瘤
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0100697
hpo_term: Neurofibrosarcoma
chpo_term: 神经纤维肉瘤
id: HP:0200008
hpo_term: Intestinal polyposis
chpo_term: 肠息肉病
Disease (ORPHA:397933):
IQSEC2-related syndromic intellectual disability
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
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:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
Disease (ORPHA:231249):
HbE-beta-thalassemia syndrome
Hemoglobin E-beta-thalassemia syndrome
E-beta-thalassemia

Associated phenotypes (HPO):
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
Disease (ORPHA:289266):
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010844
hpo_term: EEG with multifocal slow activity
chpo_term: 脑电图，多灶性慢活动
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
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:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
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:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0012547
hpo_term: Abnormal involuntary eye movements
chpo_term: 不自主眼球运动异常
Disease (ORPHA:85197):
Genochondromatosis type 1

Associated phenotypes (HPO):
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0005701
hpo_term: Multiple enchondromatosis
chpo_term: 多发性内生软骨瘤
Disease (ORPHA:85198):
Dysspondyloenchondromatosis

Associated phenotypes (HPO):
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002879
hpo_term: Anisospondyly
chpo_term: 椎体大小不等
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004039
hpo_term: Abnormal ulnar metaphysis morphology
chpo_term: 尺骨干骺端形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005701
hpo_term: Multiple enchondromatosis
chpo_term: 多发性内生软骨瘤
id: HP:0005868
hpo_term: Metaphyseal enchondromatosis
chpo_term: 干骺端软骨瘤病
id: HP:0012221
hpo_term: Pretibial blistering
chpo_term: 胫前起疱
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100777
hpo_term: Exostoses
chpo_term: 外生骨疣
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
Disease (ORPHA:85199):
CAP syndrome
CDAGS syndrome
Craniosynostosis-anal anomalies-porokeratosis syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002697
hpo_term: Parietal foramina
chpo_term: 顶骨孔
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0006660
hpo_term: Aplastic clavicle
chpo_term: 锁骨发育不全
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0012742
hpo_term: Thin fingernail
chpo_term: 薄指甲
id: HP:0100589
hpo_term: Urogenital fistula
chpo_term: 泌尿生殖道瘘
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
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:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
Disease (ORPHA:85193):
IJO
Idiopathic juvenile osteoporosis
Juvenile osteoporosis

Associated phenotypes (HPO):
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折