TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:607778):
ACROCAPITOFEMORAL DYSPLASIA
Acrocapitofemoral dysplasia

Associated phenotypes (HPO):
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
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:0003099
hpo_term: Fibular overgrowth
chpo_term: 腓骨过度生长
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0030033
hpo_term: Small finger
chpo_term: 小指
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0006059
hpo_term: Cone-shaped metacarpal epiphyses
chpo_term: 掌骨锥形骨骺
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0001821
hpo_term: Broad nail
chpo_term: 宽甲
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006216
hpo_term: Single interphalangeal crease of fifth finger
chpo_term: 第五指单个皮褶
id: HP:0006438
hpo_term: Enlargement of the distal femoral epiphysis
chpo_term: 股骨远端骨骺膨大
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:6000884
id: HP:0010575
hpo_term: Dysplasia of the femoral head
chpo_term: 股骨头发育不良
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0010017
hpo_term: Cone-shaped epiphysis of the 1st metacarpal
chpo_term: 第一掌骨锥形骨骺
id: HP:0010241
hpo_term: Short proximal phalanx of finger
chpo_term: 近节指骨短小
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000887
hpo_term: Cupped ribs
chpo_term: 杯状肋骨端
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0008789
hpo_term: Cone-shaped capital femoral epiphysis
chpo_term: 锥形股骨头骨骺
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0009638
hpo_term: Short proximal phalanx of thumb
chpo_term: 拇指近节指骨缩短
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
Disease (OMIM:618658):
Zimmermann-Laband syndrome 3
ZIMMERMANN-LABAND SYNDROME 3

Associated phenotypes (HPO):
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0005807
hpo_term: Absent distal phalanges
chpo_term: 远节指骨缺失
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0002219
hpo_term: Facial hypertrichosis
chpo_term: 面部多毛症（先天性）
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0100380
hpo_term: Aplasia of the distal phalanx of the 5th toe
chpo_term: 第五趾末节趾骨发育不全
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0010432
hpo_term: Absent distal phalanx of the 2nd toe
chpo_term: 第二趾末节趾骨缺如
id: HP:0032524
hpo_term: Long thumb
chpo_term: 长拇指
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:153600):
MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1
Macroglobulinemia, Waldenstrom, somatic

Associated phenotypes (HPO):
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0005508
hpo_term: Monoclonal immunoglobulin M proteinemia
chpo_term: 单克隆IgM血症
id: HP:0003459
hpo_term: Polyclonal elevation of IgM
chpo_term: IgM抗体多克隆性增高
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0003347
hpo_term: Impaired lymphocyte transformation with phytohemagglutinin
chpo_term: 植物血凝素淋巴细胞转化受损
Disease (OMIM:604271):
Growth hormone insensitivity, partial
GROWTH HORMONE INSENSITIVITY, PARTIAL

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:603278):
Focal segmental glomerulosclerosis 1
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0005565
hpo_term: Reduced renal corticomedullary differentiation
chpo_term: 肾皮髓质分界模糊
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
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:157300):
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
Migraine with or without aura, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002077
hpo_term: Migraine with aura
chpo_term: 有先兆偏头痛
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0002083
hpo_term: Migraine without aura
chpo_term: 无先兆偏头痛
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609033):
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
Ataxia, posterior column, with 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:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0030529
hpo_term: Ring scotoma
chpo_term: 环形暗点
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0040272
hpo_term: Hyperintensity of MRI T2 signal of the spinal cord
chpo_term: 脊髓MRI T2呈高信号
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:619220):
IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY
Immunodeficiency 78 with autoimmunity and developmental delay

Associated phenotypes (HPO):
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0000265
hpo_term: Mastoiditis
chpo_term: 乳突炎
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032247
hpo_term: Persistent CMV viremia
chpo_term: 迁延性巨细胞病毒血症
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0040167
hpo_term: Facial papilloma
chpo_term: 面部乳头状瘤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0006268
hpo_term: Fluctuating splenomegaly
chpo_term: 间歇性脾肿大
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0410028
hpo_term: Recurrent oral herpes
chpo_term: 复发性口腔疱疹
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
Disease (OMIM:616113):
POLYENDOCRINE-POLYNEUROPATHY SYNDROME
Polyendocrine-polyneuropathy syndrome

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0011787
hpo_term: Central hypothyroidism
chpo_term: 中枢性甲状腺功能减退症
id: HP:0031097
hpo_term: Abnormal thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平异常
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:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
Disease (OMIM:615432):
SPECIFIC LANGUAGE IMPAIRMENT 5
Specific language impairment 5

Associated phenotypes (HPO):
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617225):
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
Spastic paraplegia 78, autosomal recessive

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0020049
hpo_term: Exodeviation
chpo_term: 外斜视
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
Disease (OMIM:618116):
BONE MARROW FAILURE SYNDROME 4
Bone marrow failure syndrome 4

Associated phenotypes (HPO):
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:619208):
OLMSTED SYNDROME 2
Olmsted syndrome 2

Associated phenotypes (HPO):
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0033707
hpo_term: Perioral hyperkeratosis
chpo_term: 口周角化过度
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0030044
hpo_term: Flexion contracture of digit
chpo_term: 指/趾屈曲挛缩
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:601321):
NEUROFIBROMATOSIS-NOONAN SYNDROME
Neurofibromatosis-Noonan syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0005272
hpo_term: Prominent nasolabial fold
chpo_term: 鼻唇沟突出
id: HP:0000917
hpo_term: Superior pectus carinatum
chpo_term: 上段鸡胸
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000915
hpo_term: Pectus excavatum of inferior sternum
chpo_term: 下段漏斗胸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0000997
hpo_term: Axillary freckling
chpo_term: 腋窝雀斑
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
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:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
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:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0009732
hpo_term: Plexiform neurofibroma
chpo_term: 丛状神经纤维瘤
id: HP:0009734
hpo_term: Optic nerve glioma
chpo_term: 视神经胶质瘤
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
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:0009737
hpo_term: Lisch nodules
chpo_term: Lisch结节
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:225060):
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
Cleft lip/palate-ectodermal dysplasia syndrome

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000288
hpo_term: Abnormality of the philtrum
chpo_term: 人中异常
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0010709
hpo_term: 2-4 finger syndactyly
chpo_term: 第二-四指并指
id: HP:0010621
hpo_term: Cutaneous syndactyly of toes
chpo_term: 脚趾皮肤性并趾
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0002296
hpo_term: Progressive hypotrichosis
chpo_term: 进行性少毛症
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
Disease (OMIM:618670):
Spermatogenic failure 41
SPERMATOGENIC FAILURE 41

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0032562
hpo_term: Tapered sperm head
chpo_term: 锥形精子头
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
Disease (OMIM:228550):
MYOFIBROMATOSIS, INFANTILE, 1
Myofibromatosis, infantile, 1

Associated phenotypes (HPO):
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0020135
hpo_term: Myofibromatosis
chpo_term: 肌纤维瘤病
id: HP:0010614
hpo_term: Fibroma
chpo_term: 纤维瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613731):
Retinitis pigmentosa 4
RETINITIS PIGMENTOSA 4

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:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
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:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩