TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:125900):
Diastema, dental medial
DIASTEMA, DENTAL MEDIAL

Associated phenotypes (HPO):
id: HP:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
Disease (OMIM:168800):
PAROTIDOMEGALY, HEREDITARY BILATERAL
Parotidomegaly, hereditary bilateral

Associated phenotypes (HPO):
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600059):
Retinitis pigmentosa 13
RETINITIS PIGMENTOSA 13

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0030672
hpo_term: Asteroid hyalosis
chpo_term: 星状玻璃体变性
id: HP:0012426
hpo_term: Optic disc drusen
chpo_term: 视盘玻璃疣
id: HP:0030629
hpo_term: Perifoveal ring of hyperautofluorescence
chpo_term: 中央凹周边强自动荧光环
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
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:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000523
hpo_term: Subcapsular cataract
chpo_term: 囊膜下白内障
Disease (OMIM:617525):
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
Erythrokeratodermia variabilis et progressiva 3

Associated phenotypes (HPO):
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001820
hpo_term: Leukonychia
chpo_term: 白甲
Disease (OMIM:620389):
Nemaline myopathy 5C, autosomal dominant
NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
Disease (OMIM:607736):
Charcot-Marie-Tooth disease, type 2J
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J

Associated phenotypes (HPO):
id: HP:0003378
hpo_term: Axonal degeneration/regeneration
chpo_term: 轴索变性/再生
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0030211
hpo_term: Slow pupillary light response
chpo_term: 瞳孔对光反应缓慢
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0033362
hpo_term: Recurrent coughing spasms
chpo_term: 反复咳嗽痉挛
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601353):
Brachycephaly, deafness, cataract, microstomia, and mental retardation
BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000917
hpo_term: Superior pectus carinatum
chpo_term: 上段鸡胸
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000915
hpo_term: Pectus excavatum of inferior sternum
chpo_term: 下段漏斗胸
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
Disease (OMIM:233670):
Granulomatous disease with defect in neutrophil chemotaxis
MOVED TO 233700 AND 306400

Associated phenotypes (HPO):
id: HP:0003203
hpo_term: Impaired oxidative burst
chpo_term: 四氮唑蓝（NBT）还原试验阴性
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
Disease (OMIM:613757):
MACULAR DEGENERATION, AGE-RELATED, 6
Macular degeneration, age-related, 6

Associated phenotypes (HPO):
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
Disease (OMIM:614038):
LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
Lymphedema, primary, with myelodysplasia

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0033222
hpo_term: Decreased CD4:CD8 ratio
chpo_term: CD4:CD8 比值减低
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
Disease (OMIM:261650):
Phosphoenolpyruvate carboxykinase 2, mitochondrial
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000799
hpo_term: Renal steatosis
chpo_term: 肾脂肪变性
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0005959
hpo_term: Impaired gluconeogenesis
chpo_term: 糖异生功能障碍
Disease (DECIPHER:2):
Cri du Chat Syndrome (5p deletion)

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:615440):
Combined oxidative phosphorylation deficiency 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:228250):
FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY
Femur, unilateral bifid, with monodactylous ectrodactyly

Associated phenotypes (HPO):
id: HP:0004058
hpo_term: Hand monodactyly
chpo_term: 独指手
id: HP:0003982
hpo_term: Aplasia of the ulna
chpo_term: 尺骨缺如
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0010443
hpo_term: Bifid femur
chpo_term: 股骨骨裂
id: HP:0009556
hpo_term: Absent tibia
chpo_term: 胫骨缺如
id: HP:0200054
hpo_term: Foot monodactyly
chpo_term: 独趾畸形
Disease (OMIM:609069):
Pancreatic and cerebellar agenesis
PANCREATIC AND CEREBELLAR AGENESIS

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0012642
hpo_term: Cerebellar agenesis
chpo_term: 小脑发育不全
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0100801
hpo_term: Pancreatic aplasia
chpo_term: 胰腺发育不良
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
Disease (OMIM:602114):
Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease
NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0001969
hpo_term: Abnormal tubulointerstitial morphology
chpo_term: 肾小管间质形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
Disease (OMIM:615468):
IMMUNODEFICIENCY 12
Immunodeficiency 12

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000265
hpo_term: Mastoiditis
chpo_term: 乳突炎
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0410295
hpo_term: Complete or near-complete absence of specific antibody response to tetanus vaccine
chpo_term: 对破伤风疫苗完全或几乎全无特异性抗体应答
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0410293
hpo_term: Absent isohemagglutinin level
chpo_term: 同种红细胞凝集素缺乏
id: HP:0011421
hpo_term: Death in adolescence
chpo_term: 青春期死亡
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0040088
hpo_term: Abnormal lymphocyte count
chpo_term: 淋巴细胞计数异常
id: HP:0031382
hpo_term: Decreased lymphocyte proliferation in response to anti-CD3
chpo_term: 淋巴细胞抗CD3应答性增殖减弱
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
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:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:232220):
GLYCOGEN STORAGE DISEASE Ib
Glycogen storage disease Ib

Associated phenotypes (HPO):
id: HP:0000660
hpo_term: Lipemia retinalis
chpo_term: 视网膜脂血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:6000201
id: HP:0000295
hpo_term: Doll-like facies
chpo_term: 娃娃脸
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0100732
hpo_term: Pancreatic fibrosis
chpo_term: 胰腺纤维化
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:609041):
Spastic paraplegia 27, autosomal recessive
SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0005340
hpo_term: Spastic/hyperactive bladder
chpo_term: 膀胱痉挛/过度活跃
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
Disease (OMIM:609727):
Spastic paraplegia 29, autosomal dominant
SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
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:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000019
hpo_term: Urinary hesitancy
chpo_term: 排尿踌躇
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
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:0000017
hpo_term: Nocturia
chpo_term: 夜尿症
id: HP:0003743
hpo_term: Genetic anticipation
chpo_term: 遗传早现
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:617519):
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS

Associated phenotypes (HPO):
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0004463
hpo_term: Absent brainstem auditory responses
chpo_term: 脑干听觉反应消失
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0034677
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0007220
hpo_term: Demyelinating motor neuropathy
chpo_term: 脱髓鞘性运动神经病
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0011807
hpo_term: Type 1 muscle fiber atrophy
chpo_term: 1型肌纤维萎缩
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0004891
hpo_term: Recurrent infections due to aspiration
chpo_term: 误吸造成反复感染
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常