TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:619135):
RITSCHER-SCHINZEL SYNDROME 3
Ritscher-Schinzel syndrome 3

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0010105
hpo_term: Short first metatarsal
chpo_term: 第一跖骨短
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006118
hpo_term: Shortening of all distal phalanges of the fingers
chpo_term: 手指的所有远端指骨缩短
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0032989
hpo_term: Delayed ability to roll over
chpo_term: 翻身能力延迟
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0100856
hpo_term: Poorly ossified vertebrae
chpo_term: 椎骨骨化不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
Disease (OMIM:278700):
Xeroderma pigmentosum, complementation group A
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Associated phenotypes (HPO):
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0003079
hpo_term: Defective DNA repair after ultraviolet radiation damage
chpo_term: 紫外线辐射后DNA损伤修复缺陷
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0034275
hpo_term: Verrucous epidermal nevus
chpo_term: 疣状表皮痣
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
Disease (OMIM:608776):
Congenital disorder of glycosylation, type Il
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0001929
hpo_term: Reduced factor XI activity
chpo_term: 凝血因子XI活性减低
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001976
hpo_term: Reduced antithrombin III activity
chpo_term: 抗凝血酶 III 活性减低
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0025672
hpo_term: Fetal skin edema
chpo_term: 胎儿皮肤水肿
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
Disease (OMIM:615041):
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0007260
hpo_term: Type II lissencephaly
chpo_term: Ⅱ型无脑回畸形
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0045005
hpo_term: Neural tube defect
chpo_term: 神经管缺损
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
Disease (OMIM:231300):
Glaucoma 3, primary congenital, A
GLAUCOMA 3, PRIMARY CONGENITAL, A

Associated phenotypes (HPO):
id: HP:0008041
hpo_term: Late onset congenital glaucoma
chpo_term: 迟发性先天性青光眼
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
Disease (OMIM:102000):
ACROLEUKOPATHY, SYMMETRIC
Acroleukopathy, symmetric

Associated phenotypes (HPO):
id: HP:0200015
hpo_term: Symmetric great toe depigmentation
chpo_term: 拇趾对称性色素脱失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613424):
Cardiomyopathy, dilated, 1R
CARDIOMYOPATHY, DILATED, 1R

Associated phenotypes (HPO):
id: HP:0031329
hpo_term: Interstitial cardiac fibrosis
chpo_term: 间质性心脏纤维化
id: HP:0031318
hpo_term: Myofiber disarray
chpo_term: 肌纤维无序
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0031319
hpo_term: Cardiomyocyte hypertrophy
chpo_term: 心肌细胞肥大
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0030682
hpo_term: Left ventricular noncompaction
chpo_term: 左心室心肌致密化不全
id: HP:0033755
hpo_term: Increased left ventricular end-diastolic volume
chpo_term: 左心室舒张末期容量增大
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:186300):
Syndactyly, type V
SYNDACTYLY, TYPE V

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0006185
hpo_term: Enlarged proximal interphalangeal joints
chpo_term: 近端指间关节增大
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001032
hpo_term: Absent distal interphalangeal creases
chpo_term: 远端指间关节皮肤皱褶缺如
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0009779
hpo_term: 3-4 toe syndactyly
chpo_term: 第三、四脚趾并趾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005867
hpo_term: 4-5 metacarpal synostosis
chpo_term: 第四、五掌骨骨性结合
Disease (OMIM:300863):
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

Associated phenotypes (HPO):
id: HP:0006208
hpo_term: Metaphyseal cupping of proximal phalanges
chpo_term: 近节指骨杯状干骺端
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0012789
hpo_term: Hypoplasia of the calcaneus
chpo_term: 跟骨发育低下
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0006402
hpo_term: Distal shortening of limbs
chpo_term: 四肢远端缩短
id: HP:0006028
hpo_term: Metaphyseal cupping of metacarpals
chpo_term: 掌骨杯状干骺端
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:608762):
Epilepsy, idiopathic generalized, susceptibility to, 3
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:617642):
Polydactyly, postaxial, type A7
POLYDACTYLY, POSTAXIAL, TYPE A7

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0005709
hpo_term: 2-3 toe cutaneous syndactyly
chpo_term: 第二、三脚趾皮肤性并趾
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004704
hpo_term: Short fifth metatarsal
chpo_term: 第五跖骨过短
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
Disease (OMIM:618571):
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0007068
hpo_term: Inferior cerebellar vermis hypoplasia
chpo_term: 下小脑蚓发育不全
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:106500):
Annular erythema
ANNULAR ERYTHEMA

Associated phenotypes (HPO):
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:611555):
RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, MENTAL RETARDATION, AND DISTINCTIVE FACIES
Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies

Associated phenotypes (HPO):
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0005565
hpo_term: Reduced renal corticomedullary differentiation
chpo_term: 肾皮髓质分界模糊
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0012408
hpo_term: Medullary nephrocalcinosis
chpo_term: 肾髓质钙化症
id: HP:0025466
hpo_term: Beta 2-microglobulinuria
chpo_term: β2-微球蛋白尿症
id: HP:0011400
hpo_term: Abnormal CNS myelination
chpo_term: 中枢神经系统髓鞘异常
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0033132
hpo_term: Renal cortical hyperechogenicity
chpo_term: 肾皮质回声增强
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
Disease (OMIM:182600):
Spastic paraplegia 3, autosomal dominant
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0003587
hpo_term: Insidious onset
chpo_term: 隐袭发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0002314
hpo_term: Degeneration of the lateral corticospinal tracts
chpo_term: 皮质脊髓侧束变性
Disease (OMIM:613342):
MSELENI JOINT DISEASE
Brachydactylous dwarfism, Mseleni type

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
Disease (OMIM:175505):
MOVED TO 619182
Polyposis of gastric fundus without polyposis coli

Associated phenotypes (HPO):
id: HP:0004295
hpo_term: Abnormal gastric mucosa morphology
chpo_term: 胃黏膜形态异常
id: HP:0004394
hpo_term: Multiple gastric polyps
chpo_term: 多发性胃息肉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:116920):
Leukocyte adhesion deficiency, type I
LEUKOCYTE ADHESION DEFICIENCY, TYPE I

Associated phenotypes (HPO):
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0005224
hpo_term: Rectal abscess
chpo_term: 直肠脓肿
id: HP:0005420
hpo_term: Recurrent gram-negative bacterial infections
chpo_term: 反复革兰氏阴性菌感染
id: HP:0011899
hpo_term: Hyperfibrinogenemia
chpo_term: 高纤维蛋白原血症
id: HP:0032434
hpo_term: Delayed umbilical cord separation
chpo_term: 脐带延迟分离
id: HP:0032435
hpo_term: Neonatal omphalitis
chpo_term: 新生儿脐炎
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007499
hpo_term: Recurrent staphylococcal infections
chpo_term: 反复葡萄球菌感染
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
Disease (OMIM:109800):
BLADDER CANCER
Bladder cancer

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0006740
hpo_term: Transitional cell carcinoma of the bladder
chpo_term: 膀胱移行细胞癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009725
hpo_term: Bladder neoplasm
chpo_term: 膀胱肿瘤
Disease (OMIM:610878):
Vesicoureteral reflux 2
VESICOURETERAL REFLUX 2

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620763):
Lisch epithelial corneal dystrophy
CORNEAL DYSTROPHY, LISCH EPITHELIAL

Associated phenotypes (HPO):
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007709
hpo_term: Band-shaped corneal dystrophy
chpo_term: 带状角膜营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300650):
Albinism, ocular, with late-onset sensorineural deafness
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS

Associated phenotypes (HPO):
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007680
hpo_term: Depigmented fundus
chpo_term: 眼底脱色素
id: HP:0001361
hpo_term: Nystagmus-induced head nodding
chpo_term: 眼球震颤诱导点头运动
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0005592
hpo_term: Giant melanosomes in melanocytes
chpo_term: 黑素细胞中巨大黑素小体
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0008615
hpo_term: Adult onset sensorineural hearing impairment
chpo_term: 成人感觉神经性听力障碍
Disease (OMIM:137050):
GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF
Gamma-A-Globulin, defect in assembly of

Associated phenotypes (HPO):
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
Disease (OMIM:617871):
Retinitis pigmentosa 81
RETINITIS PIGMENTOSA 81

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
Disease (OMIM:300888):
HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
Hypothyroidism, central, and testicular enlargement

Associated phenotypes (HPO):
id: HP:0033075
hpo_term: Inappropriately normal thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平不适当正常
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0008202
hpo_term: Reduced circulating prolactin concentration
chpo_term: 泌乳素水平下降
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0033082
hpo_term: Reduced TSH response to thyrotrophin-releasing hormone stimulation test
chpo_term: 促甲状腺激素释放激素刺激试验引起的TSH降低