TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3206):
Stüve-Wiedemann syndrome
Schwartz-Jampel syndrome type 2
STWS
Stüve-Wiedemann dysplasia
SWS
Stüve-Wiedemann syndrome type 1
SJS2
Neonatal Schwartz-Jampel syndrome

Associated phenotypes (HPO):
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000935
hpo_term: Thickened cortex of long bones
chpo_term: 长骨骨皮质增厚
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0010298
hpo_term: Smooth tongue
chpo_term: 光舌
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0006844
hpo_term: Absent patellar reflexes
chpo_term: 膝反射消失
id: HP:0008000
hpo_term: Decreased corneal reflex
chpo_term: 角膜反射减退
id: HP:0100028
hpo_term: Ectopic thyroid
chpo_term: 异位甲状腺
Disease (ORPHA:3207):
Curatolo-Cilio-Pessagno syndrome
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0012430
hpo_term: Cerebral white matter hypoplasia
chpo_term: 脑白质发育不良
Disease (ORPHA:40):
Acromesomelic dysplasia, Maroteaux type

Associated phenotypes (HPO):
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003086
hpo_term: Acromesomelia
chpo_term: 肢端发育不良
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:3201):
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Stoll-Kieny-Dott syndrome

Associated phenotypes (HPO):
id: HP:0000277
hpo_term: Abnormal mandible morphology
chpo_term: 下颌骨形态异常
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0010185
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the toes
chpo_term: 末节趾骨发育不良/发育不全
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:3202):
Hereditary xerocytosis
Dehydrated hereditary stomatocytosis

Associated phenotypes (HPO):
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001930
hpo_term: Nonspherocytic hemolytic anemia
chpo_term: 非球形红细胞性溶血性贫血
id: HP:0005502
hpo_term: Increased red cell osmotic fragility
chpo_term: 红细胞渗透脆性增加
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0001981
hpo_term: Schistocytosis
chpo_term: 裂(红)细胞症
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0011042
hpo_term: Abnormal blood potassium concentration
chpo_term: 钾离子稳态平衡异常
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0032231
hpo_term: Hypochromia
chpo_term: 低色素（红细胞）
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001046
hpo_term: Intermittent jaundice
chpo_term: 间歇性黄疸
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0004804
hpo_term: Congenital hemolytic anemia
chpo_term: 先天性溶血性贫血
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0012431
hpo_term: Episodic fatigue
chpo_term: 情景疲劳
id: HP:0001900
hpo_term: Increased hemoglobin
chpo_term: 血红蛋白增多
id: HP:0025548
hpo_term: Increased mean corpuscular hemoglobin concentration
chpo_term: 红细胞平均血红蛋白量增多
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0030242
hpo_term: Portal vein thrombosis
chpo_term: 门静脉血栓形成
id: HP:0030950
hpo_term: Pulmonary venous hypertension
chpo_term: 肺静脉高压
Disease (ORPHA:444002):
Monosomy 11q22.2q22.3
Del(11)(q22.2q22.3)
11q22.2q22.3 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000753
hpo_term: Autism with high cognitive abilities
chpo_term: 具有高认知能力的自闭症
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
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:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0011368
hpo_term: Epidermal thickening
chpo_term: 表皮增厚
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0030190
hpo_term: Oral motor hypotonia
chpo_term: 口腔运动肌张力减退
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
Disease (ORPHA:447997):
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ASCT1 deficiency
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003739
hpo_term: Myoclonic spasms
chpo_term: 肌阵挛性抽搐
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012167
hpo_term: Hair-pulling
chpo_term: 拔毛癖
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
Disease (ORPHA:3203):
Overhydrated hereditary stomatocytosis

Associated phenotypes (HPO):
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0004446
hpo_term: Stomatocytosis
chpo_term: 口形红细胞增多症
id: HP:0005502
hpo_term: Increased red cell osmotic fragility
chpo_term: 红细胞渗透脆性增加
id: HP:0025065
hpo_term: Abnormal mean corpuscular volume
chpo_term: 红细胞体积异常
id: HP:0025547
hpo_term: Decreased mean corpuscular hemoglobin concentration
chpo_term: 红细胞平均血红蛋白量减低
id: HP:0001046
hpo_term: Intermittent jaundice
chpo_term: 间歇性黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
Disease (ORPHA:3204):
Thrombocytopathy-asplenia-miosis syndrome
Stormorken-Sjaastad-Langslet syndrome
Stormorken syndrome

Associated phenotypes (HPO):
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0001872
hpo_term: Abnormality of thrombocytes
chpo_term: 血小板异常
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
Disease (ORPHA:94147):
Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001098
hpo_term: Abnormal fundus morphology
chpo_term: 眼底形态异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012452
hpo_term: Restless legs
chpo_term: 不宁腿
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0012047
hpo_term: Hemeralopia
chpo_term: 昼盲
Disease (ORPHA:99832):
TRH resistance syndrome
Central hypothyroidism due to TRH receptor deficiency
Resistance to thyrotropin-releasing hormone syndrome

Associated phenotypes (HPO):
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0025483
hpo_term: Abnormal circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平异常
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0031219
hpo_term: Reduced radioactive iodine uptake
chpo_term: 放射性碘摄取减少
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0032210
hpo_term: Decreased circulating free T3
chpo_term: 循环游离T3浓度降低
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0011437
hpo_term: Maternal autoimmune disease
chpo_term: 母体自身免疫性疾病
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
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:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008202
hpo_term: Reduced circulating prolactin concentration
chpo_term: 泌乳素水平下降
Disease (ORPHA:56):
Hereditary ochronosis
Homogentisic acid oxidase deficiency
Alkaptonuria

Associated phenotypes (HPO):
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001717
hpo_term: Coronary artery calcification
chpo_term: 冠状动脉钙化
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0005645
hpo_term: Intervertebral disk calcification
chpo_term: 椎间盘钙化
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0030764
hpo_term: Ochronosis
chpo_term: 褐黄病
id: HP:0033704
hpo_term: Elevated urinary homogentisic acid
chpo_term: 尿黑酸升高
id: HP:0100593
hpo_term: Calcification of cartilage
chpo_term: 软骨钙化
id: HP:0000024
hpo_term: Prostatitis
chpo_term: 前列腺炎
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0004380
hpo_term: Aortic valve calcification
chpo_term: 主动脉瓣钙化
id: HP:0004382
hpo_term: Mitral valve calcification
chpo_term: 二尖瓣钙化
id: HP:0004690
hpo_term: Thickened Achilles tendon
chpo_term: 跟腱增厚
id: HP:0007832
hpo_term: Pigmentation of the sclera
chpo_term: 巩膜色素沉着
id: HP:0040319
hpo_term: Dark urine
chpo_term: 深色尿液
id: HP:0100550
hpo_term: Tendon rupture
chpo_term: 肌腱断裂
id: HP:0100773
hpo_term: Cartilage destruction
chpo_term: 软骨破坏
id: HP:6000027
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0011034
hpo_term: Amyloidosis
chpo_term: 淀粉样变
id: HP:0011982
hpo_term: Black pigment gallstones
chpo_term: 黑色素结石
id: HP:0012119
hpo_term: Methemoglobinemia
chpo_term: 高铁血红蛋白血症
id: HP:0025612
hpo_term: Corneal astigmatism
chpo_term: 角膜性散光
id: HP:0034882
id: HP:6000025
Disease (ORPHA:57):
GSD due to aldolase A deficiency
Glycogen storage disease due to aldolase A deficiency
Glycogenosis type 12
GSD type 12
Glycogenosis type XII
Glycogen storage disease type 12
Glycogenosis due to aldolase A deficiency
Glycogen storage disease type XII
GSD type XII

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0012545
hpo_term: Reduced aldolase level
chpo_term: 醛缩酶水平降低
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003558
hpo_term: Viral infection-induced rhabdomyolysis
chpo_term: 病毒感染诱导的横纹肌瘤
id: HP:0003756
hpo_term: Skeletal myopathy
chpo_term: 骨骼肌病
id: HP:0008331
hpo_term: Elevated creatine kinase after exercise
chpo_term: 运动后肌酸激酶升高
id: HP:0009045
hpo_term: Exercise-induced rhabdomyolysis
chpo_term: 运动诱发的横纹肌溶解
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常