TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2261):
Hypospadias-intellectual disability, Goldblatt type syndrome
Goldblatt-Wallis syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
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:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:2260):
Oligomeganephronic renal hypoplasia
Oligomeganephronia

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:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0005563
hpo_term: Decreased numbers of nephrons
chpo_term: 肾单位数量减少
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0012575
hpo_term: Abnormal nephron morphology
chpo_term: 肾单位形态异常
id: HP:0012584
hpo_term: Bilateral renal hypoplasia
chpo_term: 双侧肾发育不良
id: HP:0030162
hpo_term: Glomerulomegaly
chpo_term: 肾小球肥大
id: HP:0000092
hpo_term: Renal tubular atrophy
chpo_term: 肾小管萎缩
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0011035
hpo_term: Abnormal renal cortex morphology
chpo_term: 肾皮质形态异常
id: HP:0025361
hpo_term: Abnormality of medullary pyramid morphology
chpo_term: 髓锥体形态异常
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
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:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0006518
hpo_term: Pulmonary venous occlusion
chpo_term: 肺静脉闭塞
id: HP:0009796
hpo_term: Branchial cyst
chpo_term: 鳃裂囊肿
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常
Disease (ORPHA:369929):
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0040084
hpo_term: Abnormal circulating renin
chpo_term: 循环肾素水平异常
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:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011166
hpo_term: Focal myoclonic seizure
chpo_term: 局灶性肌阵挛发作
id: HP:0011410
hpo_term: Caesarian section
chpo_term: 剖腹产
id: HP:0011706
hpo_term: Second degree atrioventricular block
chpo_term: 二度房室传导阻滞
id: HP:0100285
hpo_term: EMG: impaired neuromuscular transmission
chpo_term: 肌电图:神经肌肉接头传递受损
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0200114
hpo_term: Metabolic alkalosis
chpo_term: 代谢性碱中毒
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0011739
hpo_term: Dexamethasone-suppressible primary hyperaldosteronism
chpo_term: 地塞米松可抑制的原发性醛固酮增多症
Disease (ORPHA:2269):
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Jagell-Holmgren-Hofer syndrome

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0002555
hpo_term: Absent pubic hair
chpo_term: 阴毛缺失
id: HP:0005597
hpo_term: Congenital alopecia totalis
chpo_term: 先天性全秃
id: HP:0007503
hpo_term: Generalized ichthyosis
chpo_term: 泛发性鱼鳞病
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0005595
hpo_term: Generalized hyperkeratosis
chpo_term: 泛发性角化过度
id: HP:0012472
hpo_term: Eclabion
chpo_term: 唇外翻
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0030182
hpo_term: Tetraplegia/tetraparesis
chpo_term: 四肢瘫痪/四肢轻瘫
Disease (ORPHA:251636):
Ependymoma
Classic ependymoma

Associated phenotypes (HPO):
id: HP:0002888
hpo_term: Ependymoma
chpo_term: 室管膜瘤
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0025461
hpo_term: Abnormal cell morphology
chpo_term: 细胞形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0010302
hpo_term: Spinal cord tumor
chpo_term: 脊髓肿瘤
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0030693
hpo_term: Supratentorial neoplasm
chpo_term: 幕上肿瘤
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0100013
hpo_term: Neoplasm of the breast
chpo_term: 乳腺肿瘤
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
Disease (ORPHA:2268):
ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome

Associated phenotypes (HPO):
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
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:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003220
hpo_term: Abnormality of chromosome stability
chpo_term: 染色体稳定性异常
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005374
hpo_term: Cellular immunodeficiency
chpo_term: 细胞免疫缺陷
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
Disease (ORPHA:2266):
Lopes-Marques de Faria syndrome
Hypotrichosis-intellectual disability, Lopes type

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006088
hpo_term: 1-5 finger complete cutaneous syndactyly
chpo_term: 五个手指完全皮肤性并指
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (ORPHA:275543):
L1 syndrome
CRASH syndrome
L1CAM syndrome
Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
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: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:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
Disease (ORPHA:330001):
Wild type ATTR-related amyloidosis
Senile systemic amyloidosis
Wild type ATTR amyloidosis
ATTRwt-related amyloidosis
ATTRwt amyloidosis

Associated phenotypes (HPO):
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:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0031327
hpo_term: Transthyretin cardiac amyloidosis
chpo_term: 甲状腺素转运蛋白心脏淀粉样变性
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0005341
hpo_term: Autonomic bladder dysfunction
chpo_term: 自主性膀胱功能障碍
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
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:0200101
hpo_term: Decreased/absent ankle reflexes
chpo_term: 踝反射降低/缺如
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:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
Disease (ORPHA:227990):
Autoimmune polyglandular syndrome type 4
Autoimmune polyendocrinopathy type 4
APS4
Autoimmune polyendocrine syndrome type 4
APS type 4

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0002582
hpo_term: Atrophic gastritis
chpo_term: 萎缩性胃炎
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002613
hpo_term: Biliary cirrhosis
chpo_term: 胆汁性肝硬化
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0010625
hpo_term: Anterior pituitary dysgenesis
chpo_term: 垂体前叶发育不良
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001094
hpo_term: Iridocyclitis
chpo_term: 虹膜睫状体炎
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
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:0010451
hpo_term: Aplasia/Hypoplasia of the spleen
chpo_term: 脾未发育/发育不全
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012220
hpo_term: Non-caseating epithelioid cell granulomatosis
chpo_term: 非干酪性上皮样细胞肉芽肿
id: HP:0100522
hpo_term: Thymoma
chpo_term: 胸腺瘤
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0100647
hpo_term: Graves disease
chpo_term: Graves病
Disease (ORPHA:2251):
Sparse hair-short stature-skin anomalies syndrome
Thumb deformity-alopecia-pigmentation anomaly syndrome

Associated phenotypes (HPO):
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0008402
hpo_term: Ridged fingernail
chpo_term: 指甲纵嵴
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0040036
hpo_term: Onychogryposis of fingernail
chpo_term: 指甲弯曲
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
Disease (ORPHA:158008):
Papular xanthoma

Associated phenotypes (HPO):
id: HP:0001013
hpo_term: Eruptive xanthomas
chpo_term: 发疹性黄瘤
id: HP:0100727
hpo_term: Histiocytosis
chpo_term: 组织细胞增多症
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
Disease (ORPHA:2250):
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Bosma-Henkin-Christiansen syndrome
Bosma arhinia-microphthalmia syndrome

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0006352
hpo_term: Failure of eruption of permanent teeth
chpo_term: 恒牙萌出失败
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009927
hpo_term: Aplasia of the nose
chpo_term: 鼻发育不全
id: HP:0009932
hpo_term: Single naris
chpo_term: 单鼻孔
id: HP:0040326
hpo_term: Hypoplasia of the olfactory bulb
chpo_term: 嗅球发育不全
id: HP:0100596
hpo_term: Absent nares
chpo_term: 无鼻孔
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
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:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0009023
hpo_term: Abdominal wall muscle weakness
chpo_term: 腹壁肌无力
id: HP:0009924
hpo_term: Aplasia/Hypoplasia involving the nose
chpo_term: 鼻发育不全／未发育
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:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0030752
hpo_term: Dacryocystocele
chpo_term: 泪囊突出
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000309
hpo_term: Abnormal midface morphology
chpo_term: 面中部形态异常
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
Disease (ORPHA:158003):
Montgomery syndrome
Xanthoma disseminatum

Associated phenotypes (HPO):
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0000159
hpo_term: Abnormal lip morphology
chpo_term: 唇形态异常
id: HP:0000600
hpo_term: Abnormality of the pharynx
chpo_term: 咽部异常
id: HP:0001600
hpo_term: Abnormality of the larynx
chpo_term: 喉部异常
id: HP:0025426
hpo_term: Abnormal bronchus morphology
chpo_term: 支气管形态异常
Disease (ORPHA:457212):
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Associated phenotypes (HPO):
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000748
hpo_term: Inappropriate laughter
chpo_term: 不适宜的发笑
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0005580
hpo_term: Duplication of renal pelvis
chpo_term: 双肾盂
id: HP:0012114
hpo_term: Endometrial carcinoma
chpo_term: 子宫内膜癌
Disease (ORPHA:521390):
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
SINO syndrome

Associated phenotypes (HPO):
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
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:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011400
hpo_term: Abnormal CNS myelination
chpo_term: 中枢神经系统髓鞘异常
id: HP:0025312
hpo_term: Esophoria
chpo_term: 内隐斜
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
Disease (ORPHA:158000):
Juvenile xanthogranuloma
JXG

Associated phenotypes (HPO):
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001101
hpo_term: Iritis
chpo_term: 虹膜炎
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0005547
hpo_term: Myeloproliferative disorder
chpo_term: 骨髓增生性疾病
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0011886
hpo_term: Hyphema
chpo_term: 前房积血
id: HP:0200064
hpo_term: Asymmetry of iris pigmentation
chpo_term: 虹膜色素不对称