TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:619224):
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
Mitochondrial complex II deficiency, nuclear type 4

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012402
hpo_term: Increased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸浓度增高
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008314
hpo_term: Decreased activity of mitochondrial complex II
chpo_term: 线粒体复合物II活性降低
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:600775):
CRANIOSYNOSTOSIS 4
Craniosynostosis 4

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0004443
hpo_term: Lambdoidal craniosynostosis
chpo_term: 人字缝早闭
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011755
hpo_term: Ectopic posterior pituitary
chpo_term: 垂体后叶异位
id: HP:0011325
hpo_term: Pansynostosis
chpo_term: 泛颅缝早闭
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011318
hpo_term: Bicoronal synostosis
chpo_term: 双侧冠状缝闭合
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614700):
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
Immunodeficiency, common variable, 8, with autoimmunity

Associated phenotypes (HPO):
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0002582
hpo_term: Atrophic gastritis
chpo_term: 萎缩性胃炎
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0410252
hpo_term: Chronic neutropenia
chpo_term: 慢性中性粒细胞减少症
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0032140
hpo_term: Decreased specific antibody response to vaccination
chpo_term: 疫苗应答特异性抗体降低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0005523
hpo_term: Lymphoproliferative disorder
chpo_term: 淋巴增生性疾病
id: HP:0030388
hpo_term: Decreased proportion of class-switched memory B cells
chpo_term: 类别转换型记忆性 B 细胞比例减低
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0025526
hpo_term: Psoriasiform lesion
chpo_term: 银屑病样皮损
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:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0008940
hpo_term: Generalized lymphadenopathy
chpo_term: 全身性淋巴结肿大
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:145700):
Hypertrichosis universalis
HYPERTRICHOSIS LANUGINOSA CONGENITA

Associated phenotypes (HPO):
id: HP:0004540
hpo_term: Congenital, generalized hypertrichosis
chpo_term: 先天性全身多毛症
id: HP:0010730
hpo_term: Double eyebrow
chpo_term: 双眉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615378):
ATRIAL FIBRILLATION, FAMILIAL, 14
Atrial fibrillation, familial, 14

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0012251
hpo_term: ST segment elevation
chpo_term: ST段抬高
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0012248
hpo_term: Prolonged PR interval
chpo_term: PR间期延长
Disease (OMIM:188000):
Thrombocytopenia 2
THROMBOCYTOPENIA 2

Associated phenotypes (HPO):
id: HP:0034010
hpo_term: Increased megakaryocyte colony forming unit count
chpo_term: 巨核细胞集落形成单位数量增加
id: HP:0011876
hpo_term: Abnormal platelet volume
chpo_term: 血小板体积异常
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0012524
hpo_term: Abnormal platelet shape
chpo_term: 血小板形状异常
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:614066):
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
Spastic paraplegia 47, autosomal recessive

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0100962
hpo_term: Shyness
chpo_term: 害羞
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:619542):
KING-DENBOROUGH SYNDROME
King-Denborough syndrome

Associated phenotypes (HPO):
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
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:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003789
hpo_term: Minicore myopathy
chpo_term: 小核肌病
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:141200):
Hematuria, benign familial
HEMATURIA, BENIGN FAMILIAL

Associated phenotypes (HPO):
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0012577
hpo_term: Thin glomerular basement membrane
chpo_term: 肾小球基底膜变薄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618884):
Proteinuria, chronic benign
PROTEINURIA, CHRONIC BENIGN

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0012592
hpo_term: Albuminuria
chpo_term: 蛋白尿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
Disease (OMIM:300582):
SHORT STATURE, IDIOPATHIC, X-LINKED
Short stature, idiopathic familial

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:618648):
Immunodeficiency 65, susceptibility to viral infections
IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS

Associated phenotypes (HPO):
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0010280
hpo_term: Stomatitis
chpo_term: 口腔炎
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031123
hpo_term: Recurrent gastroenteritis
chpo_term: 复发性肠胃炎
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
Disease (OMIM:601319):
ODONTOMICRONYCHIAL DYSPLASIA
Odontomicronychial dysplasia

Associated phenotypes (HPO):
id: HP:0008383
hpo_term: Slow-growing nails
chpo_term: 甲生长缓慢
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006337
hpo_term: Premature eruption of permanent teeth
chpo_term: 恒牙过早萌出
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
Disease (OMIM:619556):
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002265
hpo_term: Large fleshy ears
chpo_term: 肥大耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:618890):
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025404
hpo_term: Abnormal visual fixation
chpo_term: 注视异常
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
Disease (OMIM:614072):
Hermansky-Pudlak syndrome 3
HERMANSKY-PUDLAK SYNDROME 3

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0006934
hpo_term: Congenital nystagmus
chpo_term: 先天性眼球震颤
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0003540
hpo_term: Impaired platelet aggregation
chpo_term: 血小板聚集障碍
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0012530
hpo_term: Abnormal number of dense granules
chpo_term: 致密颗粒数量异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
Disease (OMIM:220120):
D-GLYCERIC ACIDURIA
D-glyceric aciduria

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:6000371
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:6000372
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0100703
hpo_term: Tongue thrusting
chpo_term: 吐舌习惯
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0034706
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:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
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:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0008288
hpo_term: Nonketotic hyperglycinemia
chpo_term: 非酮症性高甘氨酸血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:614714):
Porokeratosis 7, multiple types
POROKERATOSIS 7, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:181030):
SALIVARY GLAND ADENOMA, PLEOMORPHIC
Salivary gland adenoma, pleomorphic

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0100684
hpo_term: Salivary gland neoplasm
chpo_term: 唾液腺肿瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传