TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2686):
Cyclic neutropenia

Associated phenotypes (HPO):
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0040289
hpo_term: Cyclic neutropenia
chpo_term: 周期性中性粒细胞减少症
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0011110
hpo_term: Recurrent tonsillitis
chpo_term: 复发性扁桃体炎
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0030757
hpo_term: Tooth abscess
chpo_term: 牙脓肿
id: HP:0032323
hpo_term: Periodic fever
chpo_term: 周期性发热
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0006308
hpo_term: Atrophy of alveolar ridges
chpo_term: 牙槽嵴萎缩
id: HP:0006357
hpo_term: Premature loss of permanent teeth
chpo_term: 恒牙过早脱落
id: HP:0009789
hpo_term: Perianal abscess
chpo_term: 肛周脓肿
id: HP:0031690
hpo_term: Opportunistic infection
chpo_term: 机会性感染
id: HP:0031891
hpo_term: Decreased eosinophil count
chpo_term: 嗜酸性粒细胞计数减低
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0004387
hpo_term: Enterocolitis
chpo_term: 小肠结肠炎
id: HP:0031864
hpo_term: Bacteremia
chpo_term: 菌血症
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
Disease (ORPHA:90035):
Donath-Landsteiner hemolytic anemia
Donath-Landsteiner syndrome
Paroxysmal cold hemoglobinuria
PCH

Associated phenotypes (HPO):
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
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:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003641
hpo_term: Hemoglobinuria
chpo_term: 血红蛋白尿
id: HP:0004844
hpo_term: Coombs-positive hemolytic anemia
chpo_term: Coombs试验阳性溶血性贫血
id: HP:0012086
hpo_term: Abnormal urinary color
chpo_term: 尿液颜色异常
Disease (ORPHA:95720):
Thyroid hypoplasia

Associated phenotypes (HPO):
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:1358):
Myopathy-Moebius-Robin syndrome
Carey-Fineman-Ziter syndrome

Associated phenotypes (HPO):
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
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:0000343
hpo_term: Long philtrum
chpo_term: 长人中
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:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000634
hpo_term: Impaired ocular abduction
chpo_term: 眼外展障碍
id: HP:0000807
hpo_term: Glandular hypospadias
chpo_term: 阴茎头型尿道下裂
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001600
hpo_term: Abnormality of the larynx
chpo_term: 喉部异常
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0009751
hpo_term: Aplasia of the pectoralis major muscle
chpo_term: 胸大肌发育不全
id: HP:0010295
hpo_term: Aplasia/Hypoplasia of the tongue
chpo_term: 舌未发育/舌发育不全
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0100735
hpo_term: Hypertensive crisis
chpo_term: 高血压危象
Disease (ORPHA:90036):
Mixed AIHA
Mixed-type autoimmune hemolytic anemia

Associated phenotypes (HPO):
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0012086
hpo_term: Abnormal urinary color
chpo_term: 尿液颜色异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:2688):
Adult chronic idiopathic neutropenia
Adult idiopathic neutropenia

Associated phenotypes (HPO):
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0005202
hpo_term: Helicobacter pylori infection
chpo_term: 幽门螺杆菌感染
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0012139
hpo_term: Granulocytic hypoplasia
chpo_term: 粒细胞发育不全
id: HP:0012312
hpo_term: Monocytopenia
chpo_term: 单核细胞减少症
id: HP:0031020
hpo_term: Bone marrow hypercellularity
chpo_term: 骨髓细胞过多
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
id: HP:0012311
hpo_term: Monocytosis
chpo_term: 单核细胞增多症
id: HP:0003453
hpo_term: Antineutrophil antibody positivity
chpo_term: 抗中性粒细胞抗体阳性
Disease (ORPHA:169160):
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta

Associated phenotypes (HPO):
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003460
hpo_term: Decreased circulating total IgA
chpo_term: 循环总 IgA 降低
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0008866
hpo_term: Failure to thrive secondary to recurrent infections
chpo_term: 反复感染导致发育迟缓
id: HP:0031381
hpo_term: Decreased lymphocyte proliferation in response to mitogen
chpo_term: 淋巴细胞有丝分裂原应答性增殖减弱
id: HP:0045080
hpo_term: Decreased proportion of CD3-positive T cells
chpo_term: CD3+T细胞比例减低
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002722
hpo_term: Recurrent abscess formation
chpo_term: 反复脓肿形成
id: HP:0004385
hpo_term: Protracted diarrhea
chpo_term: 迁延性腹泻
id: HP:0005353
hpo_term: Recurrent herpes
chpo_term: 复发性疱疹
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
Disease (ORPHA:50810):
Microlissencephaly-micromelia syndrome
Basel-Vanagaite-Sirota syndrome

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004554
hpo_term: Generalized hypertrichosis
chpo_term: 泛发性多毛症
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0010945
hpo_term: Fetal pyelectasis
chpo_term: 胎儿肾盂扩张
id: HP:0100530
hpo_term: Abnormal calcium-phosphate regulating hormone level
chpo_term: 磷酸盐和钙的调节激素异常
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
Disease (ORPHA:50811):
Lipodystrophy-intellectual disability-deafness syndrome
Rajab-Spranger syndrome
Lipodystrophy-intellectual disability-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:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004993
hpo_term: Slender long bones with narrow diaphyses
chpo_term: 长骨细长伴骨干狭窄
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0009064
hpo_term: Generalized lipodystrophy
chpo_term: 全身脂肪营养不良
id: HP:0100959
hpo_term: Dense metaphyseal bands
chpo_term: 干骺端致密带
Disease (ORPHA:50812):
Zellweger-like syndrome without peroxisomal anomalies
Ahn-Lerman-Sagie syndrome

Associated phenotypes (HPO):
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:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
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:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
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:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:50814):
Craniolenticulosutural dysplasia
Boyadjiev-Jabs syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
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:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
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:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0008031
hpo_term: Posterior Y-sutural cataract
chpo_term: 后Y缝白内障
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008444
hpo_term: Posterior wedging of vertebral bodies
chpo_term: 椎体后侧楔形
id: HP:0008808
hpo_term: High iliac wing
chpo_term: 高髂骨翼
Disease (ORPHA:50815):
Mégarbané-Loiselet syndrome
Branchiogenic hearing loss syndrome
Branchiogenic deafness syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004452
hpo_term: Abnormality of the middle ear ossicles
chpo_term: 中耳听小骨异常
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0007427
hpo_term: Reticulated skin pigmentation
chpo_term: 网状色素沉着
id: HP:0008774
hpo_term: Aplasia/Hypoplasia of the inner ear
chpo_term: 内耳发育缺陷/不全
id: HP:0009795
hpo_term: Branchial fistula
chpo_term: 鳃裂瘘管
id: HP:0009796
hpo_term: Branchial cyst
chpo_term: 鳃裂囊肿
id: HP:0009839
hpo_term: Osteolytic defects of the distal phalanges of the hand
chpo_term: 手末节指骨溶骨性缺陷
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0011272
hpo_term: Underdeveloped tragus
chpo_term: 耳屏发育不良
Disease (ORPHA:2678):
Familial CALMs isolated
Multiple isolated café-au-lait syndrome
Familial isolated CALSs
CALs syndrome isolated
Multiple isolated café-au-lait spots
Familial isolated café-au-lait spots
Familial isolated café-au-lait macules

Associated phenotypes (HPO):
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
Disease (ORPHA:90026):
Primary erythromelalgia
Primary erythermalgia

Associated phenotypes (HPO):
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0032147
hpo_term: Erythromelalgia
chpo_term: 红斑性肢痛症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001872
hpo_term: Abnormality of thrombocytes
chpo_term: 血小板异常
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0012533
hpo_term: Allodynia
chpo_term: 痛觉过敏
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0200101
hpo_term: Decreased/absent ankle reflexes
chpo_term: 踝反射降低/缺如
Disease (ORPHA:95715):
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Associated phenotypes (HPO):
id: HP:0011437
hpo_term: Maternal autoimmune disease
chpo_term: 母体自身免疫性疾病
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002926
hpo_term: Abnormality of thyroid physiology
chpo_term: 甲状腺生理功能异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0031098
hpo_term: Decreased thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平降低
id: HP:0031219
hpo_term: Reduced radioactive iodine uptake
chpo_term: 放射性碘摄取减少
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0025379
hpo_term: Anti-thyroid peroxidase antibody positivity
chpo_term: 抗甲状腺过氧化物酶抗体阳性
id: HP:0025483
hpo_term: Abnormal circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平异常
id: HP:0500011
hpo_term: Moon facies
chpo_term: 满月脸
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
Disease (ORPHA:1345):
Krasnow-Qazi syndrome
Cardiomyopathy-cataract-hip spine disease syndrome

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
Disease (ORPHA:95716):
Thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis

Associated phenotypes (HPO):
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0025482
hpo_term: Positive perchlorate discharge test
chpo_term: 过氯酸盐释放试验阳性
id: HP:0025483
hpo_term: Abnormal circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平异常
id: HP:0031219
hpo_term: Reduced radioactive iodine uptake
chpo_term: 放射性碘摄取减少
id: HP:0031220
hpo_term: Increased radioactive iodine uptake
chpo_term: 放射性碘摄取增多
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011437
hpo_term: Maternal autoimmune disease
chpo_term: 母体自身免疫性疾病
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008263
hpo_term: Thyroid defect in oxidation and organification of iodide
chpo_term: 甲状腺碘氧化和有机化缺陷
id: HP:0008828
hpo_term: Delayed proximal femoral epiphyseal ossification
chpo_term: 股骨近端骨骺骨化延迟
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难