TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614732):
INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
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:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:618108):
IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
Immunodeficiency 57

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0410297
hpo_term: Partial absence of specific antibody response to tetanus vaccine
chpo_term: 对破伤风疫苗的特异性抗体应答部分缺失
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0005263
hpo_term: Gastritis
chpo_term: 胃炎
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0009789
hpo_term: Perianal abscess
chpo_term: 肛周脓肿
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:619216):
Neuropathy, hereditary motor, with myopathic features
NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
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:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
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
Disease (OMIM:613075):
MACS SYNDROME
Macrocephaly, alopecia, cutis laxa, and scoliosis

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0040079
hpo_term: Irregular dentition
chpo_term: 牙列不规则
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0012472
hpo_term: Eclabion
chpo_term: 唇外翻
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0007204
hpo_term: Diffuse white matter abnormalities
chpo_term: 弥漫性脑白质异常
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0012520
hpo_term: Dilation of Virchow-Robin spaces
chpo_term: 血管周围间隙扩大
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008661
hpo_term: Urethral stenosis
chpo_term: 尿道狭窄
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
Disease (OMIM:618120):
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
Mitochondrial complex V (ATP synthase) deficiency nuclear type 5

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0011925
hpo_term: Decreased activity of mitochondrial ATP synthase complex
chpo_term: 线粒体ATP合成酶复合物活性降低
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0031962
hpo_term: Elevated serum anion gap
chpo_term: 血清阴离子间隙升高
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (OMIM:617213):
SEDOHEPTULOKINASE DEFICIENCY
Sedoheptulokinase deficiency

Associated phenotypes (HPO):
id: HP:0025157
hpo_term: Increased urinary sedoheptulose
chpo_term: 尿液景天庚酮糖浓度增高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:156000):
MENIERE DISEASE
Meniere disease

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601471):
Facial paresis, hereditary congenital, 1
FACIAL PARESIS, HEREDITARY CONGENITAL, 1

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0012507
hpo_term: Weakness of orbicularis oculi muscle
chpo_term: 眼轮匝肌无力
id: HP:0008000
hpo_term: Decreased corneal reflex
chpo_term: 角膜反射减退
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601317):
Deafness, autosomal dominant nonsyndromic sensorineural 11
DEAFNESS, AUTOSOMAL DOMINANT 11

Associated phenotypes (HPO):
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618646):
DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2
Diencephalic-mesencephalic junction dysplasia syndrome 2

Associated phenotypes (HPO):
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0012695
hpo_term: Decreased thalamic volume
chpo_term: 丘脑体积减少
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0040326
hpo_term: Hypoplasia of the olfactory bulb
chpo_term: 嗅球发育不全
Disease (OMIM:609993):
OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE
Osteosclerosis - ichthyosis - premature ovarian failure

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0031485
hpo_term: Subperiosteal bone formation
chpo_term: 骨膜下骨形成
id: HP:0005746
hpo_term: Osteosclerosis of the base of the skull
chpo_term: 颅底骨硬化
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
Disease (OMIM:617575):
Nephrotic syndrome, type 14
NEPHROTIC SYNDROME, TYPE 14

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0031266
hpo_term: Podocyte foot process effacement
chpo_term: 足细胞足突消失
id: HP:0012588
hpo_term: Steroid-resistant nephrotic syndrome
chpo_term: 激素耐受性肾病综合征
id: HP:0012574
hpo_term: Mesangial hypercellularity
chpo_term: 肾小球系膜增生
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001967
hpo_term: Diffuse mesangial sclerosis
chpo_term: 弥漫性肾小球系膜硬化
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:615362):
CEROID LIPOFUSCINOSIS, NEURONAL, 13
Ceroid lipofuscinosis, neuronal, 13

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:261600):
Phenylketonuria
PHENYLKETONURIA

Associated phenotypes (HPO):
id: HP:0002686
hpo_term: Prenatal maternal abnormality
chpo_term: 产前母体异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002286
hpo_term: Fair hair
chpo_term: 金发
id: HP:0034458
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:6000281
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0410066
hpo_term: Increased level of hippuric acid in urine
chpo_term: 尿液马尿酸水平增高
id: HP:0005982
hpo_term: Reduced phenylalanine hydroxylase level
chpo_term: 苯丙氨酸羟化酶活性降低
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0100610
hpo_term: Maternal hyperphenylalaninemia
chpo_term: 母体高苯丙氨酸血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0004923
hpo_term: Hyperphenylalaninemia
chpo_term: 高苯丙氨酸血症
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0004920
hpo_term: Phenylpyruvic acidemia
chpo_term: 苯丙酮酸血症
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
Disease (OMIM:613707):
LEOPARD SYNDROME 3
Leopard syndrome 3

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001054
hpo_term: Numerous nevi
chpo_term: 多发性色素痣
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0030939
hpo_term: Palpebral thickening
chpo_term: 眼睑增厚
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
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:0001646
hpo_term: Abnormal aortic valve morphology
chpo_term: 主动脉瓣形态异常
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0007429
hpo_term: Few cafe-au-lait spots
chpo_term: 散发型牛奶咖啡斑
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001003
hpo_term: Multiple lentigines
chpo_term: 多发性雀斑样痣
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
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:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
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:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
Disease (OMIM:615376):
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
Charcot-Marie-Tooth disease, recessive intermediate C

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
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:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
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:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
Disease (OMIM:618652):
Neurooculocardiogenitourinary syndrome
NEUROOCULOCARDIOGENITOURINARY SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0010490
hpo_term: Abnormality of the palmar creases
chpo_term: 掌纹异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000659
hpo_term: Peters anomaly
chpo_term: Peters 综合征
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭