TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:96180):
Maternal uniparental disomy of chromosome 4 syndrome
UPD(4)mat

Associated phenotypes (HPO):
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
id: HP:0001927
hpo_term: Acanthocytosis
chpo_term: 棘形红细胞增多症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003563
hpo_term: Decreased LDL cholesterol concentration
chpo_term: 低β-脂蛋白血症
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0004905
hpo_term: Low levels of vitamin A
chpo_term: 维生素A缺乏症
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0008181
hpo_term: Abetalipoproteinemia
chpo_term: 无β脂蛋白血症
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0010875
hpo_term: Chaddock reflex
chpo_term: Chaddock 反射
id: HP:0011892
hpo_term: Low levels of vitamin K
chpo_term: 维生素K缺乏症
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0100513
hpo_term: Low levels of vitamin E
chpo_term: 维生素E缺乏症
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:171629):
Autosomal recessive spastic paraplegia type 35
SPG35

Associated phenotypes (HPO):
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002454
hpo_term: Eye of the tiger anomaly of globus pallidus
chpo_term: 苍白球虎眼征
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0005656
hpo_term: Positional foot deformity
chpo_term: 位置性足畸形
id: HP:0006879
hpo_term: Pontocerebellar atrophy
chpo_term: 脑桥小脑萎缩
id: HP:0010677
hpo_term: Enuresis nocturna
chpo_term: 遗尿症
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0100515
hpo_term: Pollakisuria
chpo_term: 尿频
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
Disease (ORPHA:978):
Acro-dermato-ungual-lacrimal-tooth syndrome
Pigment anomaly-ectrodactyly-hypodontia syndrome
ADULT syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001803
hpo_term: Nail pits
chpo_term: 甲凹点
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0002561
hpo_term: Absent nipple
chpo_term: 乳头缺失
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:977):
Adrenomyodystrophy

Associated phenotypes (HPO):
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
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:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
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
Disease (ORPHA:96179):
Maternal uniparental disomy of chromosome 2 syndrome
UPD(2)mat

Associated phenotypes (HPO):
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001560
hpo_term: Abnormality of the amniotic fluid
chpo_term: 羊水异常
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0004639
hpo_term: Elevated amniotic fluid alpha-fetoprotein
chpo_term: 羊水甲胎蛋白升高
id: HP:0005781
hpo_term: Contractures of the large joints
chpo_term: 大关节挛缩
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004880
hpo_term: Respiratory infections in early life
chpo_term: 童年呼吸道感染
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0008440
hpo_term: C1-C2 vertebral abnormality
chpo_term: C1-C2寰枢椎椎体异常
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
Disease (ORPHA:974):
AOS
Congenital scalp defects with distal limb reduction anomalies
Aplasia cutis congenita with terminal transverse limb defects
Aplasia cutis congenita with distal limb anomalies
Adams-Oliver syndrome
Congenital scalp defects with distal limb anomalies

Associated phenotypes (HPO):
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0004050
hpo_term: Absent hand
chpo_term: 手缺如
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010760
hpo_term: Absent toe
chpo_term: 脚趾缺失
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001641
hpo_term: Abnormal pulmonary valve morphology
chpo_term: 肺动脉瓣形态异常
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
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:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002612
hpo_term: Congenital hepatic fibrosis
chpo_term: 先天性肝纤维化
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0010624
hpo_term: Aplastic/hypoplastic toenail
chpo_term: 趾甲发育缺陷/不全
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
Disease (ORPHA:973):
Isolated absence/hypoplasia of fingers excluding thumb, unilateral
Isolated digits 2-5 hypodactyly, unilateral
Isolated digits 2-5 oligodactyly, unilateral
Isolated congenital adactyly of hand, unilateral

Associated phenotypes (HPO):
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0009988
hpo_term: Duplication of the distal phalanx of the 5th finger
chpo_term: 第五指末节指骨重复
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
Disease (ORPHA:976):
2,8-dihydroxyadenine urolithiasis
Adenine phosphoribosyltransferase deficiency
APRT deficiency

Associated phenotypes (HPO):
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
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:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000019
hpo_term: Urinary hesitancy
chpo_term: 排尿踌躇
id: HP:0000791
hpo_term: Uric acid nephrolithiasis
chpo_term: 肾尿酸结石
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0011848
hpo_term: Abdominal colic
chpo_term: 腹部绞痛
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
id: HP:0030157
hpo_term: Flank pain
chpo_term: 侧腹疼痛
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
Disease (ORPHA:75233):
Wolman disease

Associated phenotypes (HPO):
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004333
hpo_term: Bone-marrow foam cells
chpo_term: 骨髓泡沫细胞
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0010512
hpo_term: Adrenal calcification
chpo_term: 肾上腺钙化
Disease (ORPHA:96176):
Ring 13
Ring chromosome 13
Ring chromosome 13 syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
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:0000832
hpo_term: Primary hypothyroidism
chpo_term: 原发性甲状腺功能减退症
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005927
hpo_term: Aplasia/hypoplasia involving bones of the hand
chpo_term: 手部骨骼发育不良/发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000676
hpo_term: Abnormality of the incisor
chpo_term: 切牙异常
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
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:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0011301
hpo_term: Absent foot
chpo_term: 缺足
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
id: HP:0030032
hpo_term: Partial absence of foot
chpo_term: 足部分缺如
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0005233
hpo_term: Hypoplasia of the gallbladder
chpo_term: 胆囊发育不良
id: HP:0009919
hpo_term: Retinoblastoma
chpo_term: 视网膜母细胞瘤
Disease (ORPHA:494541):
Childhood-onset benign chorea with striatal involvement

Associated phenotypes (HPO):
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0010994
hpo_term: Abnormal corpus striatum morphology
chpo_term: 纹状体形态异常
id: HP:0031206
hpo_term: Striatal T2 hyperintensity
chpo_term: 纹状体T2高信号
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
Disease (ORPHA:158668):
Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0040181
hpo_term: Chapped lip
chpo_term: 嘴唇皲裂
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005218
hpo_term: Anoperineal fistula
chpo_term: 肛门会阴瘘
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0012227
hpo_term: Urethral stricture
chpo_term: 尿道狭窄
id: HP:0030809
hpo_term: Abnormal tongue morphology
chpo_term: 舌头形态异常
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
Disease (ORPHA:658549):
Idiopathic small fibers neuropathy
Idiopathic-SFN

Associated phenotypes (HPO):
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0007550
hpo_term: Hypohidrosis or hyperhidrosis
chpo_term: 少汗/多汗症
id: HP:0008652
hpo_term: Autonomic erectile dysfunction
chpo_term: 自主性勃起功能障碍
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0032147
hpo_term: Erythromelalgia
chpo_term: 红斑性肢痛症
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
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:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0012452
hpo_term: Restless legs
chpo_term: 不宁腿
id: HP:0012533
hpo_term: Allodynia
chpo_term: 痛觉过敏
id: HP:0012700
hpo_term: Abnormal large intestine physiology
chpo_term: 大肠生理功能异常
id: HP:0033850
hpo_term: Coldness
chpo_term: 寒冷
id: HP:0100502
hpo_term: Vitamin B12 deficiency
chpo_term: 维生素B12缺乏症
Disease (ORPHA:440727):
Combined hamartoma of the retina and retinal pigment epithelium
CHR-RPE
Combined hamartoma of the retina and RPE

Associated phenotypes (HPO):
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0012795
hpo_term: Abnormal optic disc morphology
chpo_term: 视盘形态异常
id: HP:0012841
hpo_term: Retinal vascular tortuosity
chpo_term: 视网膜血管迂曲