TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:215150):
Otospondylomegaepiphyseal dysplasia
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0006237
hpo_term: Prominent interphalangeal joints
chpo_term: 指（趾）间关节突出
id: HP:0004679
hpo_term: Large tarsal bones
chpo_term: 大跗骨
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005003
hpo_term: Aplasia/Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨头骨骺发育不良/发育不全
id: HP:0003088
hpo_term: Premature osteoarthritis
chpo_term: 早发性关节炎
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
Disease (OMIM:621002):
Premature ovarian failure 25

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031103
hpo_term: Decreased antimullerian hormone level
chpo_term: 抗苗勒氏管激素水平降低
Disease (OMIM:613926):
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP: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:0007341
hpo_term: Diffuse swelling of cerebral white matter
chpo_term: 脑白质弥漫性肿胀
id: HP:0007204
hpo_term: Diffuse white matter abnormalities
chpo_term: 弥漫性脑白质异常
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:614091):
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
Short-Rib thoracic dysplasia 7 with or without polydactyly

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000200
hpo_term: Short lingual frenulum
chpo_term: 舌系带过短
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
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:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0010812
hpo_term: Short uvula
chpo_term: 悬雍垂短小
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0006644
hpo_term: Thoracic dysplasia
chpo_term: 胸廓发育不良
id: HP:0011090
hpo_term: Fused teeth
chpo_term: 融合牙
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
Disease (OMIM:210000):
Behr syndrome
BEHR SYNDROME

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
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:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003089
hpo_term: Hamstring contractures
chpo_term: 腘绳肌挛缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0034311
hpo_term: Hypoplastic optic chiasm
chpo_term: 视交叉发育不全
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0006366
hpo_term: Adductor longus contractures
chpo_term: 内收长肌挛缩
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:617598):
Mosaic variegated aneuploidy syndrome 3
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0007429
hpo_term: Few cafe-au-lait spots
chpo_term: 散发型牛奶咖啡斑
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200024
hpo_term: Premature chromatid separation
chpo_term: 姐妹染色单体过早分离
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
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
Disease (OMIM:618873):
LISSENCEPHALY 10
Lissencephaly 10

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
id: HP:0032411
hpo_term: Posterior predominant subcortical band heterotopia
chpo_term: 后部为主的皮层下带异位症
id: HP:0031589
hpo_term: Suicidal ideation
chpo_term: 自杀意念
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
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:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0030222
hpo_term: Visual agnosia
chpo_term: 视觉失认症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:301119):
SPERMATOGENIC FAILURE, X-LINKED, 8
Spermatogenic failure, X-linked, 8, susceptibility to

Associated phenotypes (HPO):
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
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:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0012865
hpo_term: Abnormal sperm head morphology
chpo_term: 精子头部形态异常
Disease (OMIM:309545):
MENTAL RETARDATION, X-LINKED, SYNDROMIC 12
Mental retardation, X-linked, syndromic 12

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000321
hpo_term: Square face
chpo_term: 方脸
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:214500):
CHEDIAK-HIGASHI SYNDROME
Chediak-Higashi syndrome

Associated phenotypes (HPO):
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0005592
hpo_term: Giant melanosomes in melanocytes
chpo_term: 黑素细胞中巨大黑素小体
id: HP:0032499
hpo_term: Giant neutrophil granules
chpo_term: 巨嗜中性粒细胞颗粒
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0011993
hpo_term: Impaired neutrophil bactericidal activity
chpo_term: 中性粒细胞杀菌活性降低
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0002218
hpo_term: Silver-gray hair
chpo_term: 银灰色毛发
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001104
hpo_term: Macular hypoplasia
chpo_term: 黄斑发育不良
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0005429
hpo_term: Recurrent systemic pyogenic infections
chpo_term: 反复全身化脓性感染
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0012484
hpo_term: Abnormal dense granules
chpo_term: 致密颗粒异常
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0007133
hpo_term: Progressive peripheral neuropathy
chpo_term: 进行性周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:620452):
AMYOTROPHIC LATERAL SCLEROSIS 28
Amyotrophic lateral sclerosis 28

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
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:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0033685
hpo_term: Fiber type grouping
chpo_term: 纤维类型分组
id: HP:0010875
hpo_term: Chaddock reflex
chpo_term: Chaddock 反射
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
Disease (OMIM:605822):
SPONDYLOOCULAR SYNDROME
Spondyloocular syndrome

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0031846
hpo_term: Femur fracture
chpo_term: 股骨骨折
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0005176
hpo_term: Dysplastic aortic valve
chpo_term: 主动脉瓣发育不良
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000591
hpo_term: Abnormal sclera morphology
chpo_term: 巩膜异常
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0002588
hpo_term: Duodenal ulcer
chpo_term: 十二指肠溃疡
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
Disease (OMIM:254130):
MIYOSHI MUSCULAR DYSTROPHY 1
Miyoshi muscular dystrophy 1

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003791
hpo_term: Deposits immunoreactive to beta-amyloid protein
chpo_term: β-淀粉样蛋白免疫反应性沉积
id: HP:0009072
hpo_term: Decreased Achilles reflex
chpo_term: 跟腱反射减弱
id: HP:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200101
hpo_term: Decreased/absent ankle reflexes
chpo_term: 踝反射降低/缺如
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
Disease (OMIM:170980):
Peroneal nerve, accessory deep
PERONEAL NERVE, ACCESSORY DEEP

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:127600):
DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL
Dyskeratosis, hereditary benign intraepithelial

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620320):
Hematuria, benign familial, 2
HEMATURIA, BENIGN FAMILIAL, 2

Associated phenotypes (HPO):
id: HP:0033282
hpo_term: Abnormal glomerular basement membrane morphology
chpo_term: 肾小球基底膜形态异常
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:314500):
VAN DEN BOSCH SYNDROME
Van den bosch syndrome

Associated phenotypes (HPO):
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0200016
hpo_term: Acrokeratosis
chpo_term: 肢端角化症
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0001139
hpo_term: Choroideremia
chpo_term: 无脉络膜症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:121270):
COPPER DEFICIENCY, FAMILIAL BENIGN
Copper deficiency, familial benign

Associated phenotypes (HPO):
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002234
hpo_term: Early balding
chpo_term: 早期秃发
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011967
hpo_term: Decreased circulating copper concentration
chpo_term: 低铜血症
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传