TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3453):
APECED syndrome
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
APS type 1
MEDAC syndrome
Autoimmune polyendocrinopathy type 1
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
Autoimmune polyglandular syndrome type 1
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
Autoimmune polyendocrine syndrome type 1
HAM syndrome
APS1

Associated phenotypes (HPO):
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0004319
hpo_term: Decreased circulating aldosterone level
chpo_term: 醛固酮减少症
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
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:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0001096
hpo_term: Keratoconjunctivitis
chpo_term: 角膜结膜炎
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0034055
hpo_term: Anti-side-chain cleavage enzyme antibody positivity
chpo_term: 抗侧链裂解酶抗体阳性
id: HP:0034071
hpo_term: Anti-21-hydroxylase antibody positivity
chpo_term: 抗21羟化酶抗体阳性
id: HP:0100502
hpo_term: Vitamin B12 deficiency
chpo_term: 维生素B12缺乏症
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002582
hpo_term: Atrophic gastritis
chpo_term: 萎缩性胃炎
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0008720
hpo_term: Primary testicular failure
chpo_term: 原发性睾丸功能衰竭
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
Disease (ORPHA:3454):
Foot contractures-muscle atrophy-oculomotor apraxia syndrome
Wieacker-Wolff syndrome

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
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:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005745
hpo_term: Congenital foot contractures
chpo_term: 先天性足挛缩
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:3456):
Cervicooculoacoustic syndrome
Wildervanck syndrome

Associated phenotypes (HPO):
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0006897
hpo_term: Abducens palsy
chpo_term: 外展神经麻痹
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000538
hpo_term: Pseudopapilledema
chpo_term: 假性视乳头水肿
id: HP:0001132
hpo_term: Lens subluxation
chpo_term: 晶状体半脱位
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
Disease (ORPHA:447788):
Cortical visual impairment
Cerebral visual impairment

Associated phenotypes (HPO):
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002060
hpo_term: Abnormal cerebral morphology
chpo_term: 大脑形态学异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0011450
hpo_term: Unusual CNS infection
chpo_term: 不寻常的中枢神经系统感染
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0025315
hpo_term: Exacerbated by head trauma
chpo_term: 因头部外伤而加重
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0010794
hpo_term: Impaired visuospatial constructive cognition
chpo_term: 视空间结构认知障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0007009
hpo_term: Central nervous system degeneration
chpo_term: 中枢神经系统变性
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0012796
hpo_term: Increased cup-to-disc ratio
chpo_term: 杯盘比增大
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0025405
hpo_term: Visual fixation instability
chpo_term: 固视不稳定
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0032046
hpo_term: Focal cortical dysplasia
chpo_term: 局灶性皮质发育不良
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0030800
hpo_term: Abnormal visual accommodation
chpo_term: 视觉调节异常
id: HP:0500049
hpo_term: Retinopathy of prematurity
chpo_term: 早产儿视网膜病
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
Disease (ORPHA:2128):
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
Isolated hemihyperplasia

Associated phenotypes (HPO):
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0001555
hpo_term: Asymmetry of the thorax
chpo_term: 胸廓不对称
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:103910):
Congenital enterocyte heparan sulfate deficiency

Associated phenotypes (HPO):
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0011012
hpo_term: Abnormal circulating polysaccharide concentration
chpo_term: 多糖代谢异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0010876
hpo_term: Abnormal circulating protein concentration
chpo_term: 血液蛋白水平异常
Disease (ORPHA:71272):
Sandifer syndrome

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002457
hpo_term: Abnormal head movements
chpo_term: 头部运动异常
id: HP:0002533
hpo_term: Abnormal posturing
chpo_term: 姿势异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
id: HP:0004637
hpo_term: Decreased cervical spine mobility
chpo_term: 颈椎活动度下降
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012547
hpo_term: Abnormal involuntary eye movements
chpo_term: 不自主眼球运动异常
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
Disease (ORPHA:71273):
Left renal vein entrapment syndrome
RNS
Renal nutcracker syndrome

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001920
hpo_term: Renal artery stenosis
chpo_term: 肾动脉狭窄
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0011934
hpo_term: Dilatation of mesenteric artery
chpo_term: 肠系膜动脉扩张
id: HP:0012871
hpo_term: Varicocele
chpo_term: 精索静脉曲张
id: HP:0030157
hpo_term: Flank pain
chpo_term: 侧腹疼痛
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0034267
hpo_term: Pelvic pain
chpo_term: 骨盆痛
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0100677
hpo_term: Vulval varicose vein
chpo_term: 外阴静脉曲张
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
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:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0100607
hpo_term: Dysmenorrhea
chpo_term: 痛经
Disease (ORPHA:49382):
Rod monochromatism
ACHM
Complete or incomplete color blindness
Achromatopsia
Total color blindness
Pingelapese blindness
Rod monochromacy

Associated phenotypes (HPO):
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007803
hpo_term: Monochromacy
chpo_term: 单色觉
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0030465
hpo_term: Undetectable light-adapted electroretinogram
chpo_term: 无法检出明适应视网膜电图
id: HP:0030584
hpo_term: Color vision test abnormality
chpo_term: 色觉测试异常
id: HP:0030620
hpo_term: Inner retinal layer loss on macular OCT
chpo_term: OCT 测量法黄斑区内层视网膜损失
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0030825
hpo_term: Absent foveal reflex
chpo_term: 黄斑中心凹反射缺失
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0007695
hpo_term: Abnormal pupillary light reflex
chpo_term: 瞳孔对光反射异常
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0025549
hpo_term: Eccentric visual fixation
chpo_term: 偏心注视
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
Disease (ORPHA:221074):
Marchiafava-Bignami disease
MBD

Associated phenotypes (HPO):
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
id: HP:0100503
hpo_term: Low levels of vitamin B1
chpo_term: 维生素B1缺乏症
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100851
hpo_term: Abnormal emotion/affect behavior
chpo_term: 异常情绪/情感行为
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0010526
hpo_term: Dysgraphia
chpo_term: 书写困难
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0030784
hpo_term: Anomic aphasia
chpo_term: 命名性失语症
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
Disease (ORPHA:103918):
TCP
Tropical pancreatitis
Tropical calcific chronic pancreatitis

Associated phenotypes (HPO):
id: HP:0005213
hpo_term: Pancreatic calcification
chpo_term: 胰腺钙化
id: HP:0005236
hpo_term: Chronic calcifying pancreatitis
chpo_term: 慢性钙化性胰腺炎
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0008205
hpo_term: Insulin-dependent but ketosis-resistant diabetes
chpo_term: 胰岛素依赖性非酮症性糖尿病
id: HP:0030992
hpo_term: Abnormal pancreatic duct morphology
chpo_term: 胰管形态学异常
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0006725
hpo_term: Pancreatic adenocarcinoma
chpo_term: 胰腺腺癌
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
Disease (ORPHA:2116):
Aminoaciduria, Hartnup type
Hartnup disease
Hartnup disorder

Associated phenotypes (HPO):
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0008353
hpo_term: Neutral hyperaminoaciduria
chpo_term: 中性高氨基酸尿
id: HP:0012086
hpo_term: Abnormal urinary color
chpo_term: 尿液颜色异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:6000130
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
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:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
Disease (ORPHA:3448):
Weaver-Williams syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
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:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:2115):
Cranio-facio-digito-genital syndrome
Harrod syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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: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:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
Disease (ORPHA:3449):
Weill-Marchesani syndrome
Spherophakia-brachymorphia syndrome

Associated phenotypes (HPO):
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0030961
hpo_term: Microspherophakia
chpo_term: 小球形晶状体
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
Disease (ORPHA:2114):
Beukes familial hip dysplasia
Hip dysplasia, Beukes type
Cilliers-Beighton syndrome
BFHD
Premature degenerative osteoarthropathy of the hip

Associated phenotypes (HPO):
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0004348
hpo_term: Abnormality of bone mineral density
chpo_term: 骨密度异常
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0009107
hpo_term: Abnormal ossification involving the femoral head and neck
chpo_term: 股骨颈和股骨头骨化异常
id: HP:0010574
hpo_term: Abnormality of the epiphysis of the femoral head
chpo_term: 股骨头骨骺异常
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
Disease (ORPHA:103909):
Isolated trehalose intolerance
Trehalase deficiency

Associated phenotypes (HPO):
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
Disease (ORPHA:2111):
Graham-Boyle-Troxell syndrome
Cystic hamartoma of lung and kidney

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
Disease (ORPHA:2110):
Hallux varus-preaxial polysyndactyly syndrome
Kleiner-Holmes syndrome

Associated phenotypes (HPO):
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形