TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:607936):
Peeling skin syndrome 4
PEELING SKIN SYNDROME 4

Associated phenotypes (HPO):
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:613943):
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
Ichthyosis, congenital, autosomal recessive 8

Associated phenotypes (HPO):
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:172880):
Pierre Robin syndrome and oligodactyly
PIERRE ROBIN SYNDROME AND OLIGODACTYLY

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
Disease (OMIM:125700):
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
Diabetes insipidus, Neurohypophyseal type

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0031429
hpo_term: Decreased circulating osteocalcin level
chpo_term: 循环骨钙素水平降低
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:620379):
SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE
Spastic paraplegia 89, autosomal recessive

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
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:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
Disease (OMIM:614962):
LEPTIN DEFICIENCY OR DYSFUNCTION
Leptin deficiency or dysfunction

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0003292
hpo_term: Decreased serum leptin
chpo_term: 血清瘦素水平降低
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:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0410018
hpo_term: Recurrent ear infections
chpo_term: 反复耳部感染
Disease (OMIM:225790):
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0009004
hpo_term: Hypoplasia of the musculature
chpo_term: 肌肉组织发育不全
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0002324
hpo_term: Hydranencephaly
chpo_term: 积水型无脑畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
Disease (OMIM:618180):
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010763
hpo_term: Low insertion of columella
chpo_term: 鼻小柱低插入
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000300
hpo_term: Oval face
chpo_term: 卵形脸
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
Disease (OMIM:608393):
Microcephaly, primary autosomal recessive, 6
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002472
hpo_term: Small cerebral cortex
chpo_term: 小大脑皮层
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
Disease (OMIM:229800):
FRUCTOSURIA, ESSENTIAL
Fructosuria, essential

Associated phenotypes (HPO):
id: HP:0011033
hpo_term: Impairment of fructose metabolism
chpo_term: 果糖代谢障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:6000804
Disease (OMIM:618195):
Intellectual developmental disorder and retinitis pigmentosa
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA

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:0007928
hpo_term: Abnormal flash visual evoked potentials
chpo_term: 闪光视觉诱发电位异常
id: HP:0500087
hpo_term: Peripapillary atrophy
chpo_term: 视乳头周围萎缩
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
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:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:243400):
ACETYLATION, SLOW
Acetylation, slow

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:300539):
NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
Nephrogenic syndrome of inappropriate antidiuresis

Associated phenotypes (HPO):
id: HP:0003158
hpo_term: Hyposthenuria
chpo_term: 低渗尿
id: HP:0012101
hpo_term: Decreased serum creatinine
chpo_term: 血清肌酐降低
id: HP:0004421
hpo_term: Elevated systolic blood pressure
chpo_term: 收缩压升高
id: HP:0031969
hpo_term: Reduced blood urea nitrogen
chpo_term: 血液尿素氮降低
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0003351
hpo_term: Decreased circulating renin level
chpo_term: 血肾素水平降低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0012605
hpo_term: Hypernatriuria
chpo_term: 高钠尿症
id: HP:0040085
hpo_term: Abnormal circulating aldosterone
chpo_term: 循环醛固酮水平异常
Disease (OMIM:616806):
Wilms tumor 6
WILMS TUMOR 6

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:247100):
Urbach-Wiethe disease
LIPOID PROTEINOSIS OF URBACH AND WIETHE

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0005671
hpo_term: Bilateral intracerebral calcifications
chpo_term: 双侧颅内钙化
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:6000656
id: HP:0011999
hpo_term: Paranoia
chpo_term: 偏执狂
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:6000842
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0034293
hpo_term: Temporal lobe calcification
chpo_term: 颞叶钙化
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0034760
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
Disease (OMIM:174200):
Polydactyly, postaxial, types A1 and B
POLYDACTYLY, POSTAXIAL, TYPE A1

Associated phenotypes (HPO):
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010621
hpo_term: Cutaneous syndactyly of toes
chpo_term: 脚趾皮肤性并趾
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0006042
hpo_term: Y-shaped metacarpals
chpo_term: Y形掌骨
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:270960):
Spermatogenic failure 4
SPERMATOGENIC FAILURE 4

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0200067
hpo_term: Recurrent spontaneous abortion
chpo_term: 复发性自然流产
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:400004):
RETINITIS PIGMENTOSA, Y-LINKED

Associated phenotypes (HPO):
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:620378):
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A
Charcot-Marie-Tooth disease, dominant intermediate A

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003378
hpo_term: Axonal degeneration/regeneration
chpo_term: 轴索变性/再生
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:139300):
AROMATASE EXCESS SYNDROME
Aromatase excess syndrome

Associated phenotypes (HPO):
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616812):
Muscular dystrophy, limb-girdle, autosomal recessive 25
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0011706
hpo_term: Second degree atrioventricular block
chpo_term: 二度房室传导阻滞
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
Disease (OMIM:170700):
PERIPHERAL DYSOSTOSIS
Peripheral dysostosis

Associated phenotypes (HPO):
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
Disease (OMIM:614963):
Leptin receptor deficiency
LEPTIN RECEPTOR DEFICIENCY

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012286
hpo_term: Abnormal hypothalamus morphology
chpo_term: 下丘脑形态异常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
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:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002958
hpo_term: Immune dysregulation
chpo_term: 免疫失调
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0100738
hpo_term: Abnormal eating behavior
chpo_term: 进食行为异常
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:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:300263):
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
Siderius X-linked mental retardation syndrome

Associated phenotypes (HPO):
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:121201):
SEIZURES, BENIGN FAMILIAL NEONATAL, 2
Epilepsy, benign neonatal, 2

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
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
Disease (OMIM:227810):
FANCONI-BICKEL SYNDROME
Fanconi-Bickel syndrome

Associated phenotypes (HPO):
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0025466
hpo_term: Beta 2-microglobulinuria
chpo_term: β2-微球蛋白尿症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
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:0011998
hpo_term: Postprandial hyperglycemia
chpo_term: 餐后高血糖
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0012202
hpo_term: Increased serum bile acid concentration
chpo_term: 血清胆汁酸浓度增高
id: HP:0012468
hpo_term: Chronic acidosis
chpo_term: 慢性酸中毒
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0004915
hpo_term: Impairment of galactose metabolism
chpo_term: 半乳糖代谢障碍
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012024
hpo_term: Hypergalactosemia
chpo_term: 高半乳糖血症
id: HP:0002909
hpo_term: Generalized aminoaciduria
chpo_term: 全谱氨基酸尿
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
Disease (OMIM:300505):
MENTAL RETARDATION, X-LINKED 84
Mental retardation, X-linked 84

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:600080):
MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC
Myelocytic leukemia-like syndrome, familial, chronic

Associated phenotypes (HPO):
id: HP:0005506
hpo_term: Chronic myelogenous leukemia
chpo_term: 慢性粒细胞白血病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传