TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:278730):
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
Xeroderma pigmentosum, complementation group D

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0003079
hpo_term: Defective DNA repair after ultraviolet radiation damage
chpo_term: 紫外线辐射后DNA损伤修复缺陷
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011496
hpo_term: Corneal neovascularization
chpo_term: 角膜新生血管
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
Disease (OMIM:614409):
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
Spastic paraplegia 46, autosomal recessive

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
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:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
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:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0011449
hpo_term: Knee clonus
chpo_term: 膝阵挛
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0008003
hpo_term: Jerky ocular pursuit movements
chpo_term: 急速眼追踪运动
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002406
hpo_term: Limb dysmetria
chpo_term: 肢体辨距不良
id: HP:0020036
hpo_term: Upper limb dysmetria
chpo_term: 上肢距辨不良
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
Disease (OMIM:607313):
Gaze palsy, familial horizontal, with progressive scoliosis, 1
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000484
hpo_term: Hyperopic astigmatism
chpo_term: 远视散光
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0007817
hpo_term: Horizontal supranuclear gaze palsy
chpo_term: 水平核上性凝视麻痹
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007650
hpo_term: Progressive ophthalmoplegia
chpo_term: 渐进性眼肌麻痹
id: HP:0000634
hpo_term: Impaired ocular abduction
chpo_term: 眼外展障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
Disease (OMIM:617100):
Familial adenomatous polyposis 4
FAMILIAL ADENOMATOUS POLYPOSIS 4

Associated phenotypes (HPO):
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0000131
hpo_term: Uterine leiomyoma
chpo_term: 子宫肌瘤
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0004783
hpo_term: Duodenal polyposis
chpo_term: 十二指肠息肉
id: HP:0033770
hpo_term: Gastric adenocarcinoma
chpo_term: 胃腺癌
id: HP:6000102
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
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:0000854
hpo_term: Thyroid adenoma
chpo_term: 甲状腺腺瘤
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
Disease (OMIM:184255):
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
Spondylometaphyseal dysplasia, corner Fracture type

Associated phenotypes (HPO):
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
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:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0003908
hpo_term: Corner fracture of metaphysis
chpo_term: 干骺端角骨折
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0004603
hpo_term: Hyperconvex vertebral body endplates
chpo_term: 椎体终板过度突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618233):
Mitochondrial complex I deficiency, nuclear type 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
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: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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0007110
hpo_term: Central hypoventilation
chpo_term: 中枢性低通气
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:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:611571):
Otosclerosis 4
OTOSCLEROSIS 4

Associated phenotypes (HPO):
id: HP:0000362
hpo_term: Otosclerosis
chpo_term: 耳硬化症
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:167870):
Panic disorder 1
PANIC DISORDER 1

Associated phenotypes (HPO):
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601004):
PORTAL VEIN, CAVERNOUS TRANSFORMATION OF
Portal vein, cavernous transformation of

Associated phenotypes (HPO):
id: HP:0004941
hpo_term: Extrahepatic portal hypertension
chpo_term: 肝外门脉高压
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617666):
FRASER SYNDROME 2
Fraser syndrome 2

Associated phenotypes (HPO):
id: HP:0025023
hpo_term: Rectal atresia
chpo_term: 直肠闭锁
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0000778
hpo_term: Hypoplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001126
hpo_term: Cryptophthalmos
chpo_term: 隐眼
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0005349
hpo_term: Hypoplasia of the epiglottis
chpo_term: 会厌发育不良
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0010958
hpo_term: Bilateral renal agenesis
chpo_term: 双肾缺如
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010477
hpo_term: Aplasia of the bladder
chpo_term: 膀胱发育不全
id: HP:0012300
hpo_term: Ureteral agenesis
chpo_term: 输尿管未发育
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:618555):
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I
Night blindness, congenital stationary, type 1I

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000552
hpo_term: Tritanomaly
chpo_term: 蓝色弱
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:607475):
BOTHNIA RETINAL DYSTROPHY
Bothnia retinal dystrophy

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
Disease (OMIM:615071):
ALAZAMI SYNDROME
Alazami syndrome

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0012646
hpo_term: Retractile testis
chpo_term: 睾丸回缩
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:142400):
Hernia, hiatus
HERNIA, HIATUS

Associated phenotypes (HPO):
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
Disease (OMIM:609470):
LEFT VENTRICULAR NONCOMPACTION 2
Left ventricular noncompaction 2

Associated phenotypes (HPO):
id: HP:0011664
hpo_term: Left ventricular noncompaction cardiomyopathy
chpo_term: 左室致密化不全心肌病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600332):
RIPPLING MUSCLE DISEASE 1
Rippling muscle disease 1

Associated phenotypes (HPO):
id: HP:0003760
hpo_term: Percussion-induced rapid rolling muscle contractions
chpo_term: 扣击引起的快速滚动的肌肉收缩（PIRC）
id: HP:0003719
hpo_term: Muscle mounding
chpo_term: 肌球
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0003559
hpo_term: Muscle hyperirritability
chpo_term: 腱反射亢进
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0008967
hpo_term: Exercise-induced muscle stiffness
chpo_term: 运动诱发的肌肉僵硬
Disease (OMIM:130900):
AMELOGENESIS IMPERFECTA, TYPE IIIA
Amelogenesis imperfecta, type III

Associated phenotypes (HPO):
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613428):
Retinitis pigmentosa 54
RETINITIS PIGMENTOSA 54

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:0001099
hpo_term: Fundus atrophy
chpo_term: 眼底萎缩
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
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: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:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
Disease (OMIM:614347):
Mental retardation, autosomal recessive 28
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
Disease (OMIM:615059):
HYPOTRICHOSIS 11
Hypotrichosis 11

Associated phenotypes (HPO):
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0200102
hpo_term: Sparse or absent eyelashes
chpo_term: 睫毛稀疏/无睫毛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (OMIM:612736):
Cerebral creatine deficiency syndrome 2
CEREBRAL CREATINE DEFICIENCY SYNDROME 2

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0034321
hpo_term: Elevated circulating guanidinoacetic acid concentration
chpo_term: 胍基乙酸水平升高
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:6000484
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
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:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:6000722
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:6000748
id: HP:0025051
hpo_term: Reduced brain creatine level by MRS
chpo_term: MRS分析大脑肌酸水平偏低
id: HP:0012101
hpo_term: Decreased serum creatinine
chpo_term: 血清肌酐降低
id: HP:0007153
hpo_term: Progressive extrapyramidal movement disorder
chpo_term: 进行性锥体外系功能障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:143050):
HUMERORADIAL SYNOSTOSIS
Humeroradial synostosis

Associated phenotypes (HPO):
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601992):
FRIEDREICH ATAXIA 2
Friedreich ataxia 2

Associated phenotypes (HPO):
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0005157
hpo_term: Concentric hypertrophic cardiomyopathy
chpo_term: 向心性肥厚型心肌病
id: HP:0003232
hpo_term: Mitochondrial malic enzyme reduced
chpo_term: 线粒体苹果酸酶减少
id: HP:0003133
hpo_term: Abnormality of the spinocerebellar tracts
chpo_term: 脊髓小脑束异常
id: HP:0001691
hpo_term: Muscular subvalvular aortic stenosis
chpo_term: 肌性主动脉瓣下狭窄
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011441
hpo_term: Abnormal medulla oblongata morphology
chpo_term: 延髓形态异常
id: HP:0003209
hpo_term: Decreased pyruvate carboxylase activity
chpo_term: 丙酮酸羧化酶活性降低
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
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: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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0011397
hpo_term: Abnormality of the dorsal column of the spinal cord
chpo_term: 脊髓后索异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001953
hpo_term: Diabetic ketoacidosis
chpo_term: 糖尿病酮症酸中毒
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
Disease (OMIM:620784):
NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
Neurodevelopmental disorder plus optic atrophy

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0033454
hpo_term: Tube feeding
chpo_term: 管饲
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008278
hpo_term: Cerebellar cortical atrophy
chpo_term: 小脑皮质萎缩
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620790):
Neurodevelopmental disorder with hypotonia and seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES

Associated phenotypes (HPO):
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
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:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0032724
hpo_term: Focal impaired awareness tonic seizure
chpo_term: 伴意识受损的局灶性强直发作
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病