TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:89842):
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Generalized RDEB, intermediate form
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
RDEB, non-Hallopeau-Siemens type
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type

Associated phenotypes (HPO):
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0031903
hpo_term: Abnormal circulating selenium concentration
chpo_term: 血液硒浓度异常
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002031
hpo_term: Abnormal esophagus morphology
chpo_term: 食管形态结构异常
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003234
hpo_term: Decreased plasma carnitine
chpo_term: 血浆肉碱降低
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0010450
hpo_term: Esophageal stenosis
chpo_term: 食管狭窄
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0031831
hpo_term: Decreased serum zinc
chpo_term: 血清锌浓度降低
id: HP:0032676
hpo_term: Chronic cutaneous wound
chpo_term: 慢性皮损
id: HP:0040303
hpo_term: Decreased serum iron
chpo_term: 血清铁下降
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012390
hpo_term: Anal fissure
chpo_term: 肛裂
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
Disease (ORPHA:89843):
Dystrophic epidermolysis bullosa pruriginosa
Pruriginous dystrophic epidermolysis bullosa
DEB pruriginosa
DEB-Pr

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0012221
hpo_term: Pretibial blistering
chpo_term: 胫前起疱
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0000152
hpo_term: Abnormality of head or neck
chpo_term: 头颈部异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
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:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002973
hpo_term: Abnormal forearm morphology
chpo_term: 前臂形态异常
id: HP:0003341
hpo_term: Lamina lucida cleavage
chpo_term: 透明层裂隙
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
Disease (ORPHA:440713):
Isolated SHPK deficiency
Isolated sedoheptulokinase deficiency

Associated phenotypes (HPO):
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0012768
hpo_term: Neonatal asphyxia
chpo_term: 新生儿窒息
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000091
hpo_term: Abnormal renal tubule morphology
chpo_term: 肾小管形态异常
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0011400
hpo_term: Abnormal CNS myelination
chpo_term: 中枢神经系统髓鞘异常
id: HP:0011998
hpo_term: Postprandial hyperglycemia
chpo_term: 餐后高血糖
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012157
hpo_term: Subcortical cerebral atrophy
chpo_term: 皮层下脑萎缩
id: HP:0100886
hpo_term: Abnormality of globe location
chpo_term: 眼球位置异常
Disease (ORPHA:329284):
BPAN
Static encephalopathy of childhood with neurodegeneration in adulthood
Neurodegeneration with brain iron accumulation type 5
SENDA
Beta-propeller protein-associated neurodegeneration
NBIA5

Associated phenotypes (HPO):
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000743
hpo_term: Frontal release signs
chpo_term: 额叶释放征象
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
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:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002448
hpo_term: Progressive encephalopathy
chpo_term: 进行性脑病
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0012675
hpo_term: Iron accumulation in brain
chpo_term: 脑内铁累积
id: HP:0012678
hpo_term: Iron accumulation in substantia nigra
chpo_term: 黑质铁累积
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:32960):
TNF receptor 1-associated periodic syndrome
Familial Hibernian fever
Tumor necrosis factor receptor 1 associated periodic syndrome
TRAPS syndrome

Associated phenotypes (HPO):
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001055
hpo_term: Erysipelas
chpo_term: 丹毒
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001637
hpo_term: Abnormal myocardium morphology
chpo_term: 心肌形态异常
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
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:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0100537
hpo_term: Fasciitis
chpo_term: 筋膜炎
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100776
hpo_term: Recurrent pharyngitis
chpo_term: 复发性咽炎
id: HP:0100781
hpo_term: Abnormal sacroiliac joint morphology
chpo_term: 骶髂关节形态异常
id: HP:0100796
hpo_term: Orchitis
chpo_term: 睾丸炎
Disease (ORPHA:98797):
Isochromosomy Yp syndrome

Associated phenotypes (HPO):
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
Disease (ORPHA:98798):
Isochromosomy Yq syndrome

Associated phenotypes (HPO):
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0003248
hpo_term: Gonadal tissue inappropriate for external genitalia or chromosomal sex
chpo_term: 性腺组织与外生殖器或染色体性别不相配
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0012871
hpo_term: Varicocele
chpo_term: 精索静脉曲张
Disease (ORPHA:98795):
Angelman syndrome due to paternal uniparental disomy of chromosome 15
UPD(15)pat

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
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:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100703
hpo_term: Tongue thrusting
chpo_term: 吐舌习惯
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0004485
hpo_term: Cessation of head growth
chpo_term: 头部生长停滞
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011185
hpo_term: EEG with focal epileptiform discharges
chpo_term: 脑电图局灶性癫痫样放电
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
Disease (ORPHA:98791):
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
ATR syndrome, deletion type

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
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:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0011903
hpo_term: HbH hemoglobin
chpo_term: 血红蛋白H
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
Disease (ORPHA:264675):
Congenital pulmonary alveolar proteinosis
Hereditary pulmonary alveolar proteinosis
Congenital PAP

Associated phenotypes (HPO):
id: HP:0010876
hpo_term: Abnormal circulating protein concentration
chpo_term: 血液蛋白水平异常
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025391
hpo_term: Crazy paving pattern
chpo_term: 肺部HRCT可见铺石路状结构
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0003651
hpo_term: Foam cells
chpo_term: 泡沫细胞
id: HP:0011949
hpo_term: Acute infectious pneumonia
chpo_term: 急性感染性肺炎
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031029
hpo_term: Elevated carcinoembryonic antigen level
chpo_term: 癌胚抗原水平增高
Disease (ORPHA:89838):
Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive generalized EBS

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
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:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0007589
hpo_term: Aplasia cutis congenita on trunk or limbs
chpo_term: 先天性躯干或四肢表皮发育不全
id: HP:0031464
hpo_term: Genital blistering
chpo_term: 生殖器水泡
Disease (ORPHA:541423):
Growth delay-intellectual disability-hepatopathy syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001027
hpo_term: Soft, doughy skin
chpo_term: 面团样柔性皮肤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0006129
hpo_term: Drumstick terminal phalanges
chpo_term: 鼓槌状末节指（趾）骨
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0100511
hpo_term: Abnormality of vitamin D metabolism
chpo_term: 维生素D代谢异常
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0031831
hpo_term: Decreased serum zinc
chpo_term: 血清锌浓度降低
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
Disease (ORPHA:96125):
Monosomy 6p25
6p subtelomeric deletion syndrome
6p25 microdeletion syndrome
Distal deletion 6p25
Monosomy 6pter
Distal deletion 6p syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
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:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为