TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:156728):
SEMD, matrilin-3 type
Spondyloepimetaphyseal dysplasia, matrilin-3 type
SEMD, MATN3-related

Associated phenotypes (HPO):
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
Disease (ORPHA:319199):
SPG53
Autosomal recessive spastic paraplegia type 53

Associated phenotypes (HPO):
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0200049
hpo_term: Upper limb hypertonia
chpo_term: 上肢张力增高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000372
hpo_term: Abnormality of the auditory canal
chpo_term: 耳道异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
Disease (ORPHA:75392):
pEDS
Ehlers-Danlos syndrome, periodontitis type
Periodontal EDS
EDS VIII
Ehlers-Danlos syndrome type 8
Periodontal Ehlers-Danlos syndrome

Associated phenotypes (HPO):
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006308
hpo_term: Atrophy of alveolar ridges
chpo_term: 牙槽嵴萎缩
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
Disease (ORPHA:319195):
Chondroectodermal dysplasia with night blindness

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001812
hpo_term: Hyperconvex fingernails
chpo_term: 指甲异常凸起
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003045
hpo_term: Abnormal patella morphology
chpo_term: 髌骨形态异常
id: HP:0003084
hpo_term: Fractures of the long bones
chpo_term: 长骨骨折
id: HP:0003886
hpo_term: Wide humerus
chpo_term: 宽肱骨
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0008110
hpo_term: Equinovarus deformity
chpo_term: 马蹄内翻变形
id: HP:0008124
hpo_term: Talipes calcaneovarus
chpo_term: 仰趾内翻足
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0008394
hpo_term: Congenital onychodystrophy
chpo_term: 先天性甲营养不良
id: HP:0012542
hpo_term: Onychauxis
chpo_term: 甲肥厚
id: HP:0030055
hpo_term: Hyperconvex toenail
chpo_term: 趾甲过凸
Disease (ORPHA:300573):
Polymicrogyria due to TUBB2B mutation

Associated phenotypes (HPO):
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0002339
hpo_term: Abnormal caudate nucleus morphology
chpo_term: 尾状核形态异常
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007301
hpo_term: Oromotor apraxia
chpo_term: 口部失用
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0012377
hpo_term: Hemianopia
chpo_term: 偏盲
id: HP:0012650
hpo_term: Perisylvian polymicrogyria
chpo_term: 外侧裂周区多小脑回
id: HP:0025102
hpo_term: Dysgenesis of the basal ganglia
chpo_term: 基底节发育不良
id: HP:0025160
hpo_term: Abnormal temper tantrums
chpo_term: 异常发脾气
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0010636
hpo_term: Schizencephaly
chpo_term: 脑裂畸形
Disease (ORPHA:324540):
Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0001686
hpo_term: Loss of voice
chpo_term: 失声
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0008757
hpo_term: Unilateral vocal cord paralysis
chpo_term: 单侧声带麻痹
id: HP:0009183
hpo_term: Joint contracture of the 5th finger
chpo_term: 第五指关节挛缩
id: HP:0009537
hpo_term: Flexion contracture of the 2nd finger
chpo_term: 第二指屈曲挛缩
id: HP:0009600
hpo_term: Flexion contracture of thumb
chpo_term: 拇指屈曲挛缩
id: HP:0010066
hpo_term: Duplication of phalanx of hallux
chpo_term: 拇趾骨重复
id: HP:0010193
hpo_term: Duplication of distal phalanx of toe
chpo_term: 末节趾骨重复
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000064
hpo_term: Hypoplastic labia minora
chpo_term: 小阴唇发育不良
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
Disease (ORPHA:75389):
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Goossens-Devriendt syndrome

Associated phenotypes (HPO):
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
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:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0006817
hpo_term: Aplasia/Hypoplasia of the cerebellar vermis
chpo_term: 小脑蚓部发育缺陷/发育不全
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011747
hpo_term: Abnormality of the anterior pituitary
chpo_term: 垂体前叶异常
id: HP:0011757
hpo_term: Posterior pituitary hypoplasia
chpo_term: 垂体后叶发育不全
Disease (ORPHA:480907):
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome

Associated phenotypes (HPO):
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
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:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0006863
hpo_term: Severe expressive language delay
chpo_term: 严重的表达性语言发育延迟
id: HP:0008468
hpo_term: Abnormal sacral segmentation
chpo_term: 骶骨分节异常
id: HP:0008472
hpo_term: Prominent protruding coccyx
chpo_term: 尾骨突出
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
Disease (ORPHA:254343):
Autosomal recessive spastic ataxia type 4
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
SPAX4

Associated phenotypes (HPO):
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000182
hpo_term: Movement abnormality of the tongue
chpo_term: 舌头运动异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0200049
hpo_term: Upper limb hypertonia
chpo_term: 上肢张力增高
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
Disease (ORPHA:263297):
Glycogenosis type XV
GSD with severe cardiomyopathy due to glycogenin deficiency
GSD type 15
GSD type XV
Glycogen storage disease type XV
Glycogen storage disease type 15
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
Glycogenosis type 15

Associated phenotypes (HPO):
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0005144
hpo_term: Ventricular septal hypertrophy
chpo_term: 室间隔肥厚
id: HP:0009023
hpo_term: Abdominal wall muscle weakness
chpo_term: 腹壁肌无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0010872
hpo_term: T-wave inversion
chpo_term: T波倒置
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0012251
hpo_term: ST segment elevation
chpo_term: ST段抬高
id: HP:0012270
hpo_term: Decreased muscle glycogen content
chpo_term: 肌糖原含量减少
id: HP:0031319
hpo_term: Cardiomyocyte hypertrophy
chpo_term: 心肌细胞肥大
id: HP:0040014
hpo_term: Increased mitochondrial number
chpo_term: 线粒体数目增加
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:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
Disease (ORPHA:33577):
Weber-Christian panniculitis
Weber-Christian disease
WCD
Pfeiffer-Weber-Christian syndrome
Idiopathic nodular panniculitis
Relapsing febrile nodular panniculitis
Idiopathic lobular panniculitis
Relapsing febrile nodular nonsuppurative panniculitis
Nodular non-suppurative panniculitis

Associated phenotypes (HPO):
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
Disease (ORPHA:50918):
Kikuchi disease
Histiocytic necrotizing lymphadenitis
Kikuchi-Fujimoto disease

Associated phenotypes (HPO):
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011134
hpo_term: Low-grade fever
chpo_term: 低热
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0200029
hpo_term: Vasculitis in the skin
chpo_term: 皮肤血管炎
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0011801
hpo_term: Enlargement of parotid gland
chpo_term: 腮腺肿大
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0025475
hpo_term: Erythematous macule
chpo_term: 红斑病
id: HP:0100827
hpo_term: Lymphocytosis
chpo_term: 淋巴细胞增多症
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0008940
hpo_term: Generalized lymphadenopathy
chpo_term: 全身性淋巴结肿大
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
Disease (ORPHA:217385):
17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3
17p13.3 microduplication syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
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:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
Disease (ORPHA:497764):
SCA43
Spinocerebellar ataxia type 43

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
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:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆