TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:79430):
Hermansky-Pudlak syndrome
HPS

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0007443
hpo_term: Partial albinism
chpo_term: 白点病；斑驳病；斑状白斑病；斑状白癜风；斑状白化病；
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0400008
hpo_term: Menometrorrhagia
chpo_term: 月经过多
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001872
hpo_term: Abnormality of thrombocytes
chpo_term: 血小板异常
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:101041):
Familial hypofibrinogenemia

Associated phenotypes (HPO):
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
Disease (ORPHA:79431):
OCA1A
Oculocutaneous albinism type 1A
Tyrosinase-negative oculocutaneous albinism

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
Disease (ORPHA:141145):
Hemifacial hyperplasia
Hemifacial hypertrophy

Associated phenotypes (HPO):
id: HP:0005323
hpo_term: Hemifacial hypertrophy
chpo_term: 半侧面部肥大
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0004411
hpo_term: Deviated nasal septum
chpo_term: 鼻中隔偏曲
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0100875
hpo_term: Hemimacroglossia
chpo_term: 舌偏侧肥大
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0006536
hpo_term: Airway obstruction
chpo_term: 气道阻塞
id: HP:0009900
hpo_term: Unilateral deafness
chpo_term: 单侧耳聋
id: HP:0010807
hpo_term: Open bite
chpo_term: 开牙合
id: HP:0025797
id: HP:0040264
hpo_term: Jaw pain
chpo_term: 下颌疼痛
Disease (ORPHA:79432):
Oculocutaneous albinism type 2
OCA2

Associated phenotypes (HPO):
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0007988
hpo_term: Macular hypopigmentation
chpo_term: 黄斑色素减退
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0012805
hpo_term: Iris transillumination defect
chpo_term: 虹膜透光缺陷
id: HP:0025551
hpo_term: Optic nerve misrouting
chpo_term: 视神经错路
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0030856
hpo_term: Posterior staphyloma
chpo_term: 后巩膜葡萄肿
id: HP:0200098
hpo_term: Absent skin pigmentation
chpo_term: 皮肤色素缺失
id: HP:0007481
hpo_term: Hyperpigmented nevi
chpo_term: 色素痣
Disease (ORPHA:79433):
Rufous oculocutaneous albinism
Red oculocutaneous albinism
OCA3
Xanthous oculocutaneous albinism
Oculocutaneous albinism type 3

Associated phenotypes (HPO):
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0002297
hpo_term: Red hair
chpo_term: 红发
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0011358
hpo_term: Generalized hypopigmentation of hair
chpo_term: 泛发性毛发色素减退
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0025551
hpo_term: Optic nerve misrouting
chpo_term: 视神经错路
id: HP:0100814
hpo_term: Blue nevus
chpo_term: 蓝痣
id: HP:0200098
hpo_term: Absent skin pigmentation
chpo_term: 皮肤色素缺失
Disease (ORPHA:79434):
Yellow oculocutaneous albinism
Oculocutaneous albinism, Amish type
Oculocutaneous albinism type 1B
Platinum oculocutaneous albinism
OCA1B

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
Disease (ORPHA:90695):
Non-acquired panhypopituitarism
Genetic panhypopituitarism

Associated phenotypes (HPO):
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
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:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0009888
hpo_term: Abnormality of secondary sexual hair
chpo_term: 第二性征毛发异常
id: HP:0010311
hpo_term: Aplasia/Hypoplasia of the breasts
chpo_term: 乳房发育不全/不良
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0040086
hpo_term: Abnormal prolactin level
chpo_term: 催乳素水平异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000839
hpo_term: Pituitary dwarfism
chpo_term: 垂体性侏儒症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0005625
hpo_term: Osteoporosis of vertebrae
chpo_term: 椎骨骨质疏松症
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0011755
hpo_term: Ectopic posterior pituitary
chpo_term: 垂体后叶异位
id: HP:0012731
hpo_term: Ectopic anterior pituitary gland
chpo_term: 异位垂体前叶腺
Disease (ORPHA:79435):
OCA4
Oculocutaneous albinism type 4

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0025551
hpo_term: Optic nerve misrouting
chpo_term: 视神经错路
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
Disease (ORPHA:73273):
Growth delay due to insulin-like growth factor I resistance
Resistance to IGF-1

Associated phenotypes (HPO):
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
Disease (ORPHA:97240):
Zebra body myopathy

Associated phenotypes (HPO):
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003555
hpo_term: Muscle fiber splitting
chpo_term: 肌纤维分裂
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003715
hpo_term: Myofibrillar myopathy
chpo_term: 肌原纤维肌病
id: HP:0003736
hpo_term: Autophagic vacuoles
chpo_term: 自噬空泡
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0012899
hpo_term: Handgrip myotonia
chpo_term: 抓握性肌强直
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
Disease (ORPHA:73272):
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay-deafness-intellectual disability syndrome
Growth delay-hearing loss-intellectual disability syndrome
IGF-1 deficiency
Primary insulin-like growth factor deficiency

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000399
hpo_term: Prelingual sensorineural hearing impairment
chpo_term: 学语前感音神经性听力损失
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000153
hpo_term: Abnormality of the mouth
chpo_term: 嘴部异常
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006266
hpo_term: Small placenta
chpo_term: 小胎盘
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0007911
hpo_term: Congenital bilateral ptosis
chpo_term: 先天性双侧上睑下垂
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:24):
Fumaric aciduria
Fumarase deficiency

Associated phenotypes (HPO):
id: HP:0003536
hpo_term: Decreased fumarate hydratase activity
chpo_term: 延胡索酸水解酶活性降低
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003191
hpo_term: Cleft ala nasi
chpo_term: 鼻翼裂
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0012402
hpo_term: Increased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸浓度增高
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0025646
hpo_term: Bilateral polymicrogyria
chpo_term: 双侧多小脑回
id: HP:0034648
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (ORPHA:312):
Bullous congenital ichthyosiform erythroderma
EHK
Bullous congenital ichthyosiform erythroderma of Brock
EI
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
BCIE
Autosomal dominant epidermolytic ichthyosis
Bullous ichthyosis

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0007475
hpo_term: Congenital bullous ichthyosiform erythroderma
chpo_term: 先天性大疱性鱼鳞病样红皮病
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0100780
hpo_term: Conjunctival hamartoma
chpo_term: 结膜错构瘤
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:25):
GA1
Glutaric acidemia type 1
Glutaryl-CoA dehydrogenase deficiency
Glutaryl-coenzyme A dehydrogenase deficiency
Glutaric aciduria type 1
GCDHD

Associated phenotypes (HPO):
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0003150
hpo_term: Glutaric aciduria
chpo_term: 戊二酸尿症
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002275
hpo_term: Poor motor coordination
chpo_term: 运动不协调
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002339
hpo_term: Abnormal caudate nucleus morphology
chpo_term: 尾状核形态异常
id: HP:0004481
hpo_term: Progressive macrocephaly
chpo_term: 渐进性大头畸形
id: HP:0007132
hpo_term: Pallidal degeneration
chpo_term: 苍白球变性
id: HP:0009716
hpo_term: Subependymal nodules
chpo_term: 室管膜下结节
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0012753
hpo_term: T2 hypointense basal ganglia
chpo_term: 基底节T2序列低信号
id: HP:0031982
hpo_term: Abnormal putamen morphology
chpo_term: 壳核形态异常
id: HP:0040194
hpo_term: Increased head circumference
chpo_term: 头围增加
id: HP:0100954
hpo_term: Open operculum
chpo_term: 岛盖张开
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0100309
hpo_term: Subdural hemorrhage
chpo_term: 硬膜下出血
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病