TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:96168):
Subtelomeric deletion 13q34
Monosomy 13q34 syndrome
Del(13)(q34)
Distal deletion 13q34

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0010945
hpo_term: Fetal pyelectasis
chpo_term: 胎儿肾盂扩张
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0011565
hpo_term: Common atrium
chpo_term: 共同心房
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0040188
hpo_term: Osteochondrosis
chpo_term: 骨软骨炎
Disease (ORPHA:96167):
Recombinant 8 syndrome
Rec8 syndrome
Recombinant chromosome 8 syndrome
Rec(8) syndrome
Duplication 8q/deletion 8p
San Luis Valley syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001869
hpo_term: Deep plantar creases
chpo_term: 跖部深褶
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0100729
hpo_term: Large face
chpo_term: 大脸
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000050
hpo_term: Hypoplastic male external genitalia
chpo_term: 男性外生殖器发育不良
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000190
hpo_term: Abnormal oral frenulum morphology
chpo_term: 口腔系带形态异常
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
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
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
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:0004378
hpo_term: Abnormality of the anus
chpo_term: 肛门异常
Disease (ORPHA:171612):
SPG37
Autosomal dominant spastic paraplegia type 37

Associated phenotypes (HPO):
id: HP:0002314
hpo_term: Degeneration of the lateral corticospinal tracts
chpo_term: 皮质脊髓侧束变性
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0100561
hpo_term: Spinal cord lesion
chpo_term: 脊髓病变
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0012898
hpo_term: Abnormal lower-limb motor evoked potentials
chpo_term: 下肢运动诱发电位异常
Disease (ORPHA:63259):
Iniencephaly

Associated phenotypes (HPO):
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0010301
hpo_term: Spinal dysraphism
chpo_term: 椎管闭合不全
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001543
hpo_term: Gastroschisis
chpo_term: 腹裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0008465
hpo_term: Absent vertebra
chpo_term: 椎体缺如
id: HP:0009939
hpo_term: Mandibular aplasia
chpo_term: 下颌骨发育不全
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
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:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0012294
hpo_term: Abnormal occipital bone morphology
chpo_term: 枕骨形态异常
Disease (ORPHA:231720):
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
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:0003423
hpo_term: Thoracolumbar kyphoscoliosis
chpo_term: 胸腰段脊柱后侧凸畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0012287
hpo_term: Hypothalamic luteinizing hormone-releasing hormone deficiency
chpo_term: 下丘脑促黄体生成素释放激素缺乏
Disease (ORPHA:171607):
SPG34
X-linked spastic paraplegia type 34

Associated phenotypes (HPO):
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
Disease (ORPHA:275864):
Behavioral variant of frontotemporal dementia
bv-FTD

Associated phenotypes (HPO):
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000710
hpo_term: Hyperorality
chpo_term: 口欲亢进
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000719
hpo_term: Inappropriate behavior
chpo_term: 不适宜行为
id: HP:0000723
hpo_term: Restrictive behavior
chpo_term: 限制性行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000734
hpo_term: Disinhibition
chpo_term: 脱抑制
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0000757
hpo_term: Lack of insight
chpo_term: 自知力缺乏
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002442
hpo_term: Dyscalculia
chpo_term: 计算困难
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0010526
hpo_term: Dysgraphia
chpo_term: 书写困难
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0030213
hpo_term: Emotional blunting
chpo_term: 情感迟钝
id: HP:0030223
hpo_term: Perseveration
chpo_term: 持续症现象
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0011204
hpo_term: EEG with continuous slow activity
chpo_term: 脑电图持续慢活动
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:0030212
hpo_term: Collectionism
chpo_term: 收藏癖
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002446
hpo_term: Astrocytosis
chpo_term: 星形胶质细胞增殖
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:0012671
hpo_term: Abulia
chpo_term: 意志力丧失
Disease (ORPHA:399103):
Nebulin-related early-onset distal myopathy
Distal nebulin myopathy

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009063
hpo_term: Progressive distal muscle weakness
chpo_term: 进行性远端肌无力
id: HP:0009077
hpo_term: Weakness of long finger extensor muscles
chpo_term: 第三指伸肌无力
id: HP:0012036
hpo_term: Sternocleidomastoid amyotrophy
chpo_term: 胸锁乳突肌萎缩
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
Disease (ORPHA:63260):
Craniorachischisis

Associated phenotypes (HPO):
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0005857
hpo_term: Cervical spina bifida
chpo_term: 颈椎脊柱裂
id: HP:0010301
hpo_term: Spinal dysraphism
chpo_term: 椎管闭合不全
id: HP:0010309
hpo_term: Bifid sternum
chpo_term: 胸骨裂
id: HP:0010497
hpo_term: Sirenomelia
chpo_term: 美人鱼综合症（并腿畸形）
Disease (ORPHA:999):
Pigmentary disorder with hearing loss
Ermine phenotype
O'Doherty syndrome
Pigmentary disorder with deafness

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
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:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
Disease (ORPHA:998):
Albinism-deafness syndrome
Albinism-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0007443
hpo_term: Partial albinism
chpo_term: 白点病；斑驳病；斑状白斑病；斑状白癜风；斑状白化病；
id: HP:0007544
hpo_term: Piebaldism
chpo_term: 斑驳病、图案状白皮病
Disease (ORPHA:75234):
Cholesteryl ester storage disease
Cholesterol ester storage disease

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002634
hpo_term: Arteriosclerosis
chpo_term: 动脉硬化
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0010512
hpo_term: Adrenal calcification
chpo_term: 肾上腺钙化
Disease (ORPHA:238329):
Mitochondrial encephalomyopathy due to COXPD6
Severe X-linked mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010994
hpo_term: Abnormal corpus striatum morphology
chpo_term: 纹状体形态异常
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0009025
hpo_term: Increased connective tissue
chpo_term: 结缔组织增多
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
Disease (ORPHA:401973):
MEND syndrome
Male EBP disorder with neurological defects

Associated phenotypes (HPO):
id: HP:0003462
hpo_term: Elevated 8-dehydrocholesterol
chpo_term: 8-脱氢胆固醇水平升高
id: HP:0003465
hpo_term: Elevated 8(9)-cholestenol
chpo_term: 8（9）-胆甾烯醇水平升高
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000422
hpo_term: Abnormal nasal bridge morphology
chpo_term: 鼻梁形态异常
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000472
hpo_term: Long neck
chpo_term: 长颈
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0005590
hpo_term: Spotty hypopigmentation
chpo_term: 点滴状色素减退
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0009941
hpo_term: Asymmetry of the mouth
chpo_term: 嘴不对称
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
Disease (ORPHA:3021):
RAPADILINO syndrome

Associated phenotypes (HPO):
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000417
hpo_term: Slender nose
chpo_term: 鼻细长
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0006498
hpo_term: Aplasia/Hypoplasia of the patella
chpo_term: 髌骨发育不良/发育不全
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍