TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:71):
CRD
Chylomicron retention disease
Anderson disease
CMRD

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0006565
hpo_term: Increased hepatocellular lipid droplets
chpo_term: 肝细胞内脂滴增加
id: HP:0100508
hpo_term: Abnormality of vitamin metabolism
chpo_term: 维生素代谢异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001927
hpo_term: Acanthocytosis
chpo_term: 棘形红细胞增多症
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
Disease (ORPHA:73):
Gorham syndrome
Vanishing bone disease
Progressive massive osteolysis
Idiopathic massive osteolysis
Gorham disease
Gorham-Stout disease

Associated phenotypes (HPO):
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0010639
hpo_term: Elevated alkaline phosphatase of bone origin
chpo_term: 骨源性碱性磷酸酶升高
id: HP:0010657
hpo_term: Patchy reduction of bone mineral density
chpo_term: 骨密度斑片状降低
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002683
hpo_term: Abnormal calvaria morphology
chpo_term: 颅骨形态异常
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0005731
hpo_term: Cortical irregularity
chpo_term: 骨皮质不规则
id: HP:0009139
hpo_term: Osteolysis involving bones of the lower limbs
chpo_term: 下肢骨骼骨质溶解
id: HP:0010754
hpo_term: Abnormality of the temporomandibular joint
chpo_term: 颞下颌关节异常
id: HP:0011384
hpo_term: Abnormality of the internal auditory canal
chpo_term: 内听道异常
id: HP:0011821
hpo_term: Abnormal facial skeleton morphology
chpo_term: 面部骨骼形态异常
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0012294
hpo_term: Abnormal occipital bone morphology
chpo_term: 枕骨形态异常
id: HP:0031417
hpo_term: Rhinorrhea
chpo_term: 鼻溢液
id: HP:0045039
hpo_term: Osteolysis involving bones of the upper limbs
chpo_term: 上肢骨骼溶骨
id: HP:0100764
hpo_term: Lymphangioma
chpo_term: 淋巴管瘤
id: HP:0200025
hpo_term: Mandibular pain
chpo_term: 下颌疼痛
id: HP:0000265
hpo_term: Mastoiditis
chpo_term: 乳突炎
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0007461
hpo_term: Hemangiomatosis
chpo_term: 多发性血管瘤
id: HP:0045027
hpo_term: Abnormality of the thoracic cavity
chpo_term: 胸廓异常
id: HP:0430005
hpo_term: Abnormal ethmoid bone morphology
chpo_term: 筛骨形态异常
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0040163
hpo_term: Abnormal pelvis bone morphology
chpo_term: 盆骨形态异常
Disease (ORPHA:480536):
MSH3-related polyposis
MSH3-related attenuated FAP
MSH3-related attenuated familial polyposis coli
MSH3-related attenuated familial adenomatous polyposis
MSH3-related AFAP

Associated phenotypes (HPO):
id: HP:0004784
hpo_term: Juvenile gastrointestinal polyposis
chpo_term: 幼年性胃肠息肉病
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0000131
hpo_term: Uterine leiomyoma
chpo_term: 子宫肌瘤
id: HP:0000854
hpo_term: Thyroid adenoma
chpo_term: 甲状腺腺瘤
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0004394
hpo_term: Multiple gastric polyps
chpo_term: 多发性胃息肉
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0012126
hpo_term: Stomach cancer
chpo_term: 胃癌
id: HP:0012740
hpo_term: Papilloma
chpo_term: 乳头状瘤
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0025274
hpo_term: Ovarian dermoid cyst
chpo_term: 卵巢皮样囊肿
Disease (ORPHA:3214):
Deaf blind hypopigmentation syndrome, Yemenite type
Warburg-Thomsen syndrome
Yemenite deaf-blind hypopigmentation syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0200007
hpo_term: Abnormal size of the palpebral fissures
chpo_term: 睑裂大小异常
Disease (ORPHA:401780):
Autosomal recessive spastic paraplegia type 61
SPG61

Associated phenotypes (HPO):
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0005109
hpo_term: Abnormality of the Achilles tendon
chpo_term: 跟腱的异常
id: HP:0007083
hpo_term: Hyperactive patellar reflex
chpo_term: 膝腱反射亢进
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0012407
hpo_term: Scissor gait
chpo_term: 剪刀步态
Disease (ORPHA:3216):
Conductive hearing loss-malformed external ear syndrome
Conductive deafness-malformed external ear syndrome
Mengel-Konigsmark syndrome

Associated phenotypes (HPO):
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
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:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004299
hpo_term: Hernia of the abdominal wall
chpo_term: 腹壁疝
id: HP:0004452
hpo_term: Abnormality of the middle ear ossicles
chpo_term: 中耳听小骨异常
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
Disease (ORPHA:45):
Adenosine monophosphate deaminase deficiency
AMP deaminase deficiency
Myoadenylate deaminase deficiency

Associated phenotypes (HPO):
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0009020
hpo_term: Exercise-induced muscle fatigue
chpo_term: 运动诱发的肌肉疲劳
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0008331
hpo_term: Elevated creatine kinase after exercise
chpo_term: 运动后肌酸激酶升高
Disease (ORPHA:46):
Adenylosuccinate lyase deficiency
Adenylosuccinase deficiency
ADSL deficiency

Associated phenotypes (HPO):
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0007103
hpo_term: Hypointensity of cerebral white matter on MRI
chpo_term: MRI脑白质低信号
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
Disease (ORPHA:47):
Bruton type agammaglobulinemia
X-linked agammaglobulinemia
BTK-deficiency

Associated phenotypes (HPO):
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
id: HP:0100765
hpo_term: Abnormality of the tonsils
chpo_term: 扁桃体异常
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0100838
hpo_term: Recurrent cutaneous abscess formation
chpo_term: 复发性皮肤脓肿
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:401795):
SPG59
Autosomal recessive spastic paraplegia type 59

Associated phenotypes (HPO):
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
Disease (ORPHA:48):
Congenital bilateral aplasia of vas deferens
Congenital bilateral absence of vas deferens
Congenital bilateral agenesis of vas deferens

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011962
hpo_term: Obstructive azoospermia
chpo_term: 梗阻性无精症
id: HP:0012873
hpo_term: Absent vas deferens
chpo_term: 输精管缺如
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0430121
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
Disease (ORPHA:41):
Dyschromatosis symmetrica hereditaria
Acropigmentation of Dohi

Associated phenotypes (HPO):
id: HP:0001304
hpo_term: Torsion dystonia
chpo_term: 扭转性肌张力障碍
id: HP:0007988
hpo_term: Macular hypopigmentation
chpo_term: 黄斑色素减退
id: HP:0011509
hpo_term: Macular hyperpigmentation
chpo_term: 黄斑色素沉着
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
Disease (ORPHA:42):
Medium chain acyl-CoA dehydrogenase deficiency
ACADM deficiency
MCAD deficiency
MCADD
Medium chain acyl-coenzyme A dehydrogenase deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Associated phenotypes (HPO):
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0011936
hpo_term: Decreased plasma total carnitine
chpo_term: 血浆总肉碱降低
id: HP:0030199
hpo_term: Fatigable weakness of neck muscles
chpo_term: 颈部肌肉疲劳性无力
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
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:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0040155
hpo_term: Elevated urinary 3-hydroxybutyric acid
chpo_term: 尿3-羟基丁酸水平升高
id: HP:0045040
hpo_term: Abnormal lactate dehydrogenase level
chpo_term: 乳酸脱氢酶活性异常
Disease (ORPHA:43):
X-ALD
ALD
X-linked ALD
X-linked adrenoleukodystrophy

Associated phenotypes (HPO):
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007199
hpo_term: Progressive spastic paraparesis
chpo_term: 进行性痉挛性轻瘫
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000734
hpo_term: Disinhibition
chpo_term: 脱抑制
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0008768
hpo_term: Inappropriate sexual behavior
chpo_term: 不适宜的性行为
id: HP:0011733
hpo_term: Abnormality of adrenal physiology
chpo_term: 肾上腺生理异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
Disease (ORPHA:44):
Intermediate PBD-ZSD
Neonatal adrenoleukodystrophy
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
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:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:49):
Penis agenesis
Aphallia
Penile agenesis

Associated phenotypes (HPO):
id: HP:0000014
hpo_term: Abnormality of the bladder
chpo_term: 膀胱异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000052
hpo_term: Urethral atresia, male
chpo_term: 男性尿道闭锁
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000800
hpo_term: Cystic renal dysplasia
chpo_term: 囊性肾发育不良
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005944
hpo_term: Bilateral lung agenesis
chpo_term: 双肺发育不全
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0010480
hpo_term: Urethral fistula
chpo_term: 尿道瘘
id: HP:0010945
hpo_term: Fetal pyelectasis
chpo_term: 胎儿肾盂扩张
id: HP:0010958
hpo_term: Bilateral renal agenesis
chpo_term: 双肾缺如
id: HP:0030261
hpo_term: Absent penis
chpo_term: 阴茎缺如
id: HP:0012583
hpo_term: Unilateral renal hypoplasia
chpo_term: 单侧肾发育不良
id: HP:0012584
hpo_term: Bilateral renal hypoplasia
chpo_term: 双侧肾发育不良
id: HP:0012620
hpo_term: Cloacal abnormality
chpo_term: 泄殖腔畸形
id: HP:0012732
hpo_term: Anorectal anomaly
chpo_term: 肛肠异常
id: HP:0100590
hpo_term: Rectal fistula
chpo_term: 直肠瘘
Disease (ORPHA:555905):
IgA pemphigus

Associated phenotypes (HPO):
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0031234
hpo_term: Neutrophilic infiltration of the skin
chpo_term: 皮肤中性粒细胞浸润
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0031539
hpo_term: Linear IgA deposits along the epidermal basement membrane zone
chpo_term: 表皮基底膜带的线性lgA沉积
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
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:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0025528
hpo_term: Annular cutaneous lesion
chpo_term: 环状皮肤病变
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0032335
hpo_term: Monoclonal elevation of circulating IgA
chpo_term: 血液IgA的单克隆增多
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎