TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:254525):
Temple syndrome due to paternal 14q32.2 microdeletion
Paternal del(14)(q32.2)

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
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:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0031878
hpo_term: Acromicria
chpo_term: 肢端过小症
Disease (ORPHA:254528):
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0006665
hpo_term: Coat hanger sign of ribs
chpo_term: 衣架样肋骨
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0006267
hpo_term: Large placenta
chpo_term: 大胎盘
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000884
hpo_term: Prominent sternum
chpo_term: 胸骨突出
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
Disease (ORPHA:314918):
Juvenile Canavan disease
Mild Canavan disease

Associated phenotypes (HPO):
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:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0012751
hpo_term: Abnormal basal ganglia MRI signal intensity
chpo_term: 核磁共振基底节异常信
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
Disease (ORPHA:171706):
Short stature-delayed bone age due to thyroid hormone metabolism deficiency

Associated phenotypes (HPO):
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0031506
hpo_term: Increased circulating T4 concentration
chpo_term: 循环T4水平升高
id: HP:0032210
hpo_term: Decreased circulating free T3
chpo_term: 循环游离T3浓度降低
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0031903
hpo_term: Abnormal circulating selenium concentration
chpo_term: 血液硒浓度异常
id: HP:0040214
hpo_term: Abnormal circulating insulin concentration
chpo_term: 循环胰岛素水平异常
Disease (ORPHA:171703):
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Associated phenotypes (HPO):
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
Disease (ORPHA:209959):
Phako-anaphylactic endophthalmitis
Endophthalmitis phacoanaphylactica
Lens-induced endophthalmitis
Phacoantigenic endophthalmitis
Phacoanaphylactic uveitis
Lens-induced iridocyclitis
Lens-induced uveitis
Phacoallergic endophthalmitis

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0500081
hpo_term: Pseudophakia
chpo_term: 人工晶体状态
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000615
hpo_term: Abnormal pupil morphology
chpo_term: 瞳孔形态异常
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0011488
hpo_term: Abnormal corneal endothelium morphology
chpo_term: 角膜内皮形态异常
id: HP:0012122
hpo_term: Anterior uveitis
chpo_term: 前葡萄膜炎
id: HP:0012123
hpo_term: Posterior uveitis
chpo_term: 后葡萄膜炎
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0007917
hpo_term: Tractional retinal detachment
chpo_term: 牵拉性视网膜脱离
id: HP:0008030
hpo_term: Retinal arteritis
chpo_term: 视网膜动脉炎
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0011531
hpo_term: Vitritis
chpo_term: 玻璃体炎
id: HP:0011886
hpo_term: Hyphema
chpo_term: 前房积血
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0012121
hpo_term: Panuveitis
chpo_term: 全葡萄膜炎
id: HP:0025341
hpo_term: Corneal keratic precipitates
chpo_term: 角膜后沉着物
id: HP:0025561
hpo_term: Anterior chamber cells grade 1+
chpo_term: 前房细胞等级1+
id: HP:0030485
hpo_term: Abnormal amplitude of pattern electroretinogram
chpo_term: 图形视网膜电图振幅异常
id: HP:0030486
hpo_term: Abnormal timing of pattern electroretinogram
chpo_term: 图形视网膜电图峰潜时异常
id: HP:0031615
hpo_term: Hypopyon
chpo_term: 前房积脓
id: HP:0031618
hpo_term: Anterior chamber flare grade 1+
chpo_term: 前房闪辉等级1+
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
Disease (ORPHA:314911):
Severe Canavan disease
Neonatal Canavan disease
Infantile Canavan disease

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0025053
hpo_term: Elevated brain N-acetyl aspartate level by MRS
chpo_term: MRS分析大脑N-乙酰天门冬氨酸水平升高
id: HP:0025405
hpo_term: Visual fixation instability
chpo_term: 固视不稳定
id: HP:0034649
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0025013
hpo_term: Decerebrate rigidity
chpo_term: 去大脑僵直
Disease (ORPHA:97349):
Postencephalitic parkinsonism

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002374
hpo_term: Diminished movement
chpo_term: 运动减少
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0005329
hpo_term: Fixed facial expression
chpo_term: 面部表情木讷
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025331
hpo_term: Upgaze palsy
chpo_term: 向上凝视麻痹
id: HP:0025456
hpo_term: Abnormal CSF protein level
chpo_term: 脑脊液蛋白水平异常
id: HP:0030188
hpo_term: Tremor by anatomical site
chpo_term: 按解剖部位分类的震颤
id: HP:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
id: HP:0045007
hpo_term: Abnormal substantia nigra morphology
chpo_term: 黑质形态异常
id: HP:0100595
hpo_term: Camptocormia
chpo_term: 驼背
id: HP:0200149
hpo_term: CSF lymphocytic pleiocytosis
chpo_term: 脑脊液淋巴细胞增生症
Disease (ORPHA:209956):
Idiopathic uveal effusion syndrome

Associated phenotypes (HPO):
id: HP:0000591
hpo_term: Abnormal sclera morphology
chpo_term: 巩膜异常
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0004328
hpo_term: Abnormal anterior eye segment morphology
chpo_term: 眼前段形态异常
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0012231
hpo_term: Exudative retinal detachment
chpo_term: 渗出性视网膜脱离
id: HP:0025339
hpo_term: Superficial episcleral hyperemia
chpo_term: 浅层巩膜充血
id: HP:0030823
hpo_term: Scleral thickening
chpo_term: 巩膜增厚
id: HP:0031526
hpo_term: Subretinal fluid
chpo_term: 视网膜下积液
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0008052
hpo_term: Retinal fold
chpo_term: 视网膜皱襞
id: HP:0012508
hpo_term: Metamorphopsia
chpo_term: 视物变形
id: HP:0012632
hpo_term: Abnormal intraocular pressure
chpo_term: 眼内压异常
Disease (ORPHA:211):
Familial cylindromatosis
Turban tumor syndrome

Associated phenotypes (HPO):
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
Disease (ORPHA:98673):
Optic atrophy type 1
Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0012511
hpo_term: Temporal optic disc pallor
chpo_term: 颞侧视盘苍白
id: HP:0025514
hpo_term: Morning glory anomaly
chpo_term: 牵牛花样视盘发育异常
id: HP:0030515
hpo_term: Moderately reduced visual acuity
chpo_term: 中度视力降低
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:212):
Gamma-cystathionase deficiency
Cystathioninuria
Cystathionase deficiency
Cystathionine gamma-lyase deficiency syndrome

Associated phenotypes (HPO):
id: HP:0003153
hpo_term: Cystathioninuria
chpo_term: 胱硫醚尿症
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:0003286
hpo_term: Cystathioninemia
chpo_term: 胱硫醚血症
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
Disease (ORPHA:97341):
Persistent placoid maculopathy

Associated phenotypes (HPO):
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0010822
hpo_term: Scintillating scotoma
chpo_term: 闪烁的暗点
id: HP:0012508
hpo_term: Metamorphopsia
chpo_term: 视物变形
Disease (ORPHA:199251):
Plantar fibromatosis
Ledderhose disease

Associated phenotypes (HPO):
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
Disease (ORPHA:209981):
IRIDA syndrome
Iron-refractory iron deficiency anemia

Associated phenotypes (HPO):
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0025066
hpo_term: Decreased mean corpuscular volume
chpo_term: 红细胞平均体积减低
id: HP:0012464
hpo_term: Decreased transferrin saturation
chpo_term: 转铁蛋白饱和度降低
id: HP:0031877
hpo_term: Elevated hepcidin level
chpo_term: 铁调素水平升高
id: HP:0040303
hpo_term: Decreased serum iron
chpo_term: 血清铁下降
id: HP:0001017
hpo_term: Anemic pallor
chpo_term: 贫血性白斑
id: HP:0030318
hpo_term: Angular cheilitis
chpo_term: 口角炎
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
Disease (ORPHA:263463):
CHST3-related skeletal dysplasia
Chondrodysplasia with congenital joint dislocations, CHST3 type
SDCD, CHST3 type
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002945
hpo_term: Intervertebral space narrowing
chpo_term: 椎间隙变窄
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
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:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:254516):
Temple syndrome

Associated phenotypes (HPO):
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
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:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
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:0007429
hpo_term: Few cafe-au-lait spots
chpo_term: 散发型牛奶咖啡斑