TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2709):
Gingival hypertrophy-corneal dystrophy
Rutherfurd syndrome
Oculodental syndrome, Rutherfurd type

Associated phenotypes (HPO):
id: HP:0000169
hpo_term: Gingival fibromatosis
chpo_term: 牙龈纤维瘤病
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
Disease (ORPHA:240071):
Richardson syndrome
Classic PSP syndrome
Classic progressive supranuclear palsy syndrome
Steele-Richardson-Olszewski disease

Associated phenotypes (HPO):
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0000633
hpo_term: Decreased lacrimation
chpo_term: 泪液分泌减少
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007086
hpo_term: Social and occupational deterioration
chpo_term: 社交和职业退化
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0007164
hpo_term: Slowed slurred speech
chpo_term: 慢而含混不清的语言
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0002068
hpo_term: Neuromuscular dysphagia
chpo_term: 神经肌肉源性吞咽困难
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0006921
hpo_term: Axial muscle stiffness
chpo_term: 轴向肌肉僵硬
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0002530
hpo_term: Axial dystonia
chpo_term: 轴向肌张力障碍
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0007158
hpo_term: Progressive extrapyramidal muscular rigidity
chpo_term: 进行性锥体外系肌肉僵直
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
Disease (ORPHA:542592):
Oppenheim-Urbach disease
Necrobiosis lipoidica

Associated phenotypes (HPO):
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0025528
hpo_term: Annular cutaneous lesion
chpo_term: 环状皮肤病变
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011990
hpo_term: Abnormality of neutrophil physiology
chpo_term: 中性粒细胞生理功能异常
id: HP:0032217
hpo_term: Indurated nodule
chpo_term: 硬化性结节
id: HP:0032252
hpo_term: Granuloma
chpo_term: 肉芽肿
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
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:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0002973
hpo_term: Abnormal forearm morphology
chpo_term: 前臂形态异常
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
Disease (ORPHA:2712):
OFCD syndrome
Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
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:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
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:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0006315
hpo_term: Solitary median maxillary central incisor
chpo_term: 单个上门齿
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0010327
hpo_term: Flexion contracture of the 2nd toe
chpo_term: 第二趾屈曲挛缩
id: HP:0010339
hpo_term: Flexion contracture of the 4th toe
chpo_term: 第四趾屈曲挛缩
id: HP:0011090
hpo_term: Fused teeth
chpo_term: 融合牙
Disease (ORPHA:2714):
Oculo-palato-cerebral syndrome
Oculo-palato-cerebral dwarfism

Associated phenotypes (HPO):
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000555
hpo_term: Leukocoria
chpo_term: 白瞳症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006913
hpo_term: Frontal cortical atrophy
chpo_term: 额叶皮质萎缩
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0007968
hpo_term: Remnants of the hyaloid vascular system
chpo_term: 玻璃体血管系统残留
id: HP:0008386
hpo_term: Aplasia/Hypoplasia of the nails
chpo_term: 甲发育缺陷/不全
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
Disease (ORPHA:2715):
Hunter-Jurenka-Thompson syndrome
Oculorenocerebellar syndrome
Severe oculo-renal-cerebellar syndrome
ORC syndrome

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0010620
hpo_term: Malar prominence
chpo_term: 颧骨突出
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:220460):
AFAP
Attenuated familial polyposis coli
Attenuated familial adenomatous polyposis
Attenuated FAP

Associated phenotypes (HPO):
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0004394
hpo_term: Multiple gastric polyps
chpo_term: 多发性胃息肉
id: HP:0004783
hpo_term: Duodenal polyposis
chpo_term: 十二指肠息肉
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0006753
hpo_term: Neoplasm of the stomach
chpo_term: 胃新生物
id: HP:0030255
hpo_term: Large intestinal polyposis
chpo_term: 大肠息肉病
id: HP:0100896
hpo_term: Rectal polyposis
chpo_term: 直肠息肉病
id: HP:0000131
hpo_term: Uterine leiomyoma
chpo_term: 子宫肌瘤
id: HP:0000854
hpo_term: Thyroid adenoma
chpo_term: 甲状腺腺瘤
id: HP:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0010614
hpo_term: Fibroma
chpo_term: 纤维瘤
id: HP:0012740
hpo_term: Papilloma
chpo_term: 乳头状瘤
id: HP:0040276
hpo_term: Adenocarcinoma of the colon
chpo_term: 结肠腺癌
id: HP:0002672
hpo_term: Gastrointestinal carcinoma
chpo_term: 胃肠道癌
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0002895
hpo_term: Papillary thyroid carcinoma
chpo_term: 甲状腺乳头状癌
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0006744
hpo_term: Adrenocortical carcinoma
chpo_term: 肾上腺皮质癌
id: HP:0008256
hpo_term: Adrenocortical adenoma
chpo_term: 肾上腺皮质腺瘤
id: HP:0030434
hpo_term: Pilomatrixoma
chpo_term: 毛母质瘤
id: HP:0007649
hpo_term: Congenital hypertrophy of retinal pigment epithelium
chpo_term: 先天性视网膜色素上皮肥大
Disease (ORPHA:2717):
Marles syndrome
Oculotrichoanal syndrome
Manitoba oculotrichoanal syndrome
Marles-Greenberg-Persaud syndrome
MOTA syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000636
hpo_term: Upper eyelid coloboma
chpo_term: 上眼睑缺损
id: HP:0001126
hpo_term: Cryptophthalmos
chpo_term: 隐眼
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
Disease (ORPHA:101097):
ARCMT2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K

Associated phenotypes (HPO):
id: HP:0000764
hpo_term: Peripheral axonal degeneration
chpo_term: 外围神经轴索变性
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003447
hpo_term: Axonal loss
chpo_term: 轴突缺失
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007249
hpo_term: Decreased number of small peripheral myelinated nerve fibers
chpo_term: 小的周围有髓鞘神经纤维数量减少
id: HP:0007267
hpo_term: Chronic axonal neuropathy
chpo_term: 慢性轴索神经病
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001604
hpo_term: Vocal cord paresis
chpo_term: 声带不全性麻痹
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0007233
hpo_term: Clusters of axonal regeneration
chpo_term: 轴突再生集群
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0011727
hpo_term: Peroneal muscle weakness
chpo_term: 腓骨肌无力
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0031629
hpo_term: Impaired tandem gait
chpo_term: 踵趾步态
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
Disease (ORPHA:79400):
EBS-loc
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex of palms and soles
Localized epidermolysis bullosa simplex
Localized EBS

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0003341
hpo_term: Lamina lucida cleavage
chpo_term: 透明层裂隙
id: HP:0007446
hpo_term: Palmoplantar blistering
chpo_term: 掌跖起泡
id: HP:0007497
hpo_term: Focal friction-related palmoplantar hyperkeratosis
chpo_term: 摩擦所致的局部掌跖角化
id: HP:0007585
hpo_term: Skin fragility with non-scarring blistering
chpo_term: 非疤痕发疱性脆性皮肤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0025238
hpo_term: Foot pain
chpo_term: 足痛
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003489
hpo_term: Acute episodes of neuropathic symptoms
chpo_term: 神经性症状急性发作
id: HP:0012513
hpo_term: Upper limb pain
chpo_term: 上肢疼痛
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0007556
hpo_term: Plantar hyperkeratosis
chpo_term: 跖部角化过度
id: HP:0010765
hpo_term: Palmar hyperkeratosis
chpo_term: 掌部角化过度
id: HP:0031446
hpo_term: Erosion of oral mucosa
chpo_term: 口腔黏膜糜烂
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0009123
hpo_term: Mixed hypo- and hyperpigmentation of the skin
chpo_term: 皮肤色素减退和色素沉着共存
Disease (ORPHA:79401):
PLEC-related intermediate EBS without extracutaneous involvement
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0007446
hpo_term: Palmoplantar blistering
chpo_term: 掌跖起泡
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0020073
hpo_term: Hypopigmented macule
chpo_term: 低色素斑点
id: HP:0031045
hpo_term: Acral blistering
chpo_term: 肢端水泡
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002012
hpo_term: Abnormality of the abdominal organs
chpo_term: 腹部器官异常
Disease (ORPHA:79402):
Junctional epidermolysis bullosa generalisata mitis
Intermediate generalized JEB
Junctional epidermolysis bullosa, Disentis type
Intermediate generalized junctional epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Generalized atrophic benign epidermolysis bullosa

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (ORPHA:371428):
Torg-Winchester syndrome
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Multicentric osteolysis-nodulosis-arthropathy spectrum

Associated phenotypes (HPO):
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:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001495
hpo_term: Carpal osteolysis
chpo_term: 腕骨溶骨
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0005922
hpo_term: Abnormal hand morphology
chpo_term: 手形态异常
id: HP:0006234
hpo_term: Osteolysis involving tarsal bones
chpo_term: 跗骨骨质溶解
id: HP:0009139
hpo_term: Osteolysis involving bones of the lower limbs
chpo_term: 下肢骨骼骨质溶解
id: HP:0045039
hpo_term: Osteolysis involving bones of the upper limbs
chpo_term: 上肢骨骼溶骨
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000916
hpo_term: Broad clavicles
chpo_term: 锁骨增宽
id: HP:0001230
hpo_term: Broad metacarpals
chpo_term: 掌骨变宽
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0005441
hpo_term: Sclerotic cranial sutures
chpo_term: 颅缝硬化
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000315
hpo_term: Abnormality of the orbital region
chpo_term: 眼眶异常
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
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:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0005994
hpo_term: Nodular goiter
chpo_term: 结节性甲状腺肿
id: HP:0010314
hpo_term: Premature thelarche
chpo_term: 乳房早熟
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:34516):
LGMD type 1D
DNAJB6-related LGMD D1
Autosomal dominant limb-girdle muscular dystrophy type 1D
Limb-girdle muscular dystrophy type 1D
DNAJB6-related limb-girdle muscular dystrophy D1
LGMD1D

Associated phenotypes (HPO):
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
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:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003715
hpo_term: Myofibrillar myopathy
chpo_term: 肌原纤维肌病
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0030951
hpo_term: Skeletal muscle fibrosis
chpo_term: 骨骼肌纤维化
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0010548
hpo_term: Percussion myotonia
chpo_term: 敲击性肌强直