TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:122430):
Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation
CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0012155
hpo_term: Decreased corneal sensation
chpo_term: 角膜感觉减退
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0007980
hpo_term: Absent retinal pigment epithelium
chpo_term: 视网膜色素上皮缺如
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:612964):
Premature ovarian failure 7
PREMATURE OVARIAN FAILURE 7

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0001470
hpo_term: Sex-limited expression
chpo_term: 限性表达
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0002555
hpo_term: Absent pubic hair
chpo_term: 阴毛缺失
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:218700):
Hypothyroidism, congenital, nongoitrous, 2
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0025484
hpo_term: Increased circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平增高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0008191
hpo_term: Thyroid agenesis
chpo_term: 甲状腺缺如
id: HP:0100028
hpo_term: Ectopic thyroid
chpo_term: 异位甲状腺
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619831):
Spermatogenic failure 71
SPERMATOGENIC FAILURE 71

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0034299
hpo_term: Sertoli cell-only phenotype
chpo_term: 纯睾丸支持细胞表型
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
Disease (OMIM:255600):
Myosclerosis, autosomal recessive
MYOSCLEROSIS, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0005997
hpo_term: Neck joint contracture
chpo_term: 颈部关节挛缩
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
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:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
Disease (OMIM:620068):
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II
Charcot-Marie-Tooth disease, axonal, type 2II

Associated phenotypes (HPO):
id: HP:0006944
hpo_term: Abolished vibration sense
chpo_term: 振动觉消失
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0007149
hpo_term: Distal upper limb amyotrophy
chpo_term: 上肢远端肌萎缩
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003447
hpo_term: Axonal loss
chpo_term: 轴突缺失
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (OMIM:610140):
Heart-hand syndrome, Slovenian type
HEART-HAND SYNDROME, SLOVENIAN TYPE

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0010239
hpo_term: Aplasia of the middle phalanx of the hand
chpo_term: 中节指骨发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:616531):
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0010945
hpo_term: Fetal pyelectasis
chpo_term: 胎儿肾盂扩张
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0012650
hpo_term: Perisylvian polymicrogyria
chpo_term: 外侧裂周区多小脑回
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0010292
hpo_term: Absent uvula
chpo_term: 悬雍垂缺失
id: HP:0012454
hpo_term: Unilateral wrist flexion contracture
chpo_term: 单侧腕关节屈曲挛缩
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0008796
hpo_term: Femoral retroversion
chpo_term: 股骨后倾
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:619602):
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0007363
hpo_term: Aplasia/Hypoplasia of the pyramidal tract
chpo_term: 锥体束不发育/发育不全
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0002536
hpo_term: Abnormal cortical gyration
chpo_term: 脑皮质沟回异常
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:614326):
FEINGOLD SYNDROME 2
Feingold syndrome 2

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0009577
hpo_term: Short middle phalanx of the 2nd finger
chpo_term: 第二指中节短指骨
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0009779
hpo_term: 3-4 toe syndactyly
chpo_term: 第三、四脚趾并趾
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:615986):
BARDET-BIEDL SYNDROME 9
Bardet-Biedl syndrome 9

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
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:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:264350):
Pseudohypoaldosteronism, type I, autosomal recessive
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0008242
hpo_term: Pseudohypoaldosteronism
chpo_term: 假性醛固酮减少症
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0000841
hpo_term: Hyperactive renin-angiotensin system
chpo_term: 肾素-血管紧张素系统亢进
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:619164):
Immunodeficiency 76
IMMUNODEFICIENCY 76

Associated phenotypes (HPO):
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0100501
hpo_term: Recurrent bronchiolitis
chpo_term: 复发性毛细支气管炎
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:619170):
Mitochondrial complex I deficiency, nuclear type 36
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36

Associated phenotypes (HPO):
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:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
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:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
Disease (OMIM:615992):
BARDET-BIEDL SYNDROME 15
Bardet-Biedl syndrome 15

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:603896):
Leukoencephalopathy with vanishing white matter
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004485
hpo_term: Cessation of head growth
chpo_term: 头部生长停滞
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0008233
hpo_term: Decreased circulating progesterone
chpo_term: 血液孕酮水平降低
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
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:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:124900):
DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
Deafness, autosomal dominant 1

Associated phenotypes (HPO):
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011891
hpo_term: Post-partum hemorrhage
chpo_term: 产后出血
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003540
hpo_term: Impaired platelet aggregation
chpo_term: 血小板聚集障碍
id: HP:0040185
hpo_term: Macrothrombocytopenia
chpo_term: 巨血小板减少症
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
Disease (OMIM:153550):
Chromosome 5q deletion syndrome
CHROMOSOME 5q DELETION SYNDROME

Associated phenotypes (HPO):
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0004861
hpo_term: Refractory macrocytic anemia
chpo_term: 难治性大细胞性贫血
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0031385
hpo_term: Megakaryocyte nucleus hypolobulation
chpo_term: 巨核细胞核分叶过少
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
Disease (OMIM:604121):
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

Associated phenotypes (HPO):
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002494
hpo_term: Abnormal rapid eye movement sleep
chpo_term: 快速眼动期睡眠异常
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0025233
hpo_term: Sleep paralysis
chpo_term: 睡眠瘫痪
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002519
hpo_term: Hypnagogic hallucinations
chpo_term: 睡前幻觉
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002524
hpo_term: Cataplexy
chpo_term: 猝倒症
id: HP:0030050
hpo_term: Narcolepsy
chpo_term: 发作性睡病
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:610154):
DEAFNESS, AUTOSOMAL RECESSIVE 44
Deafness, autosomal recessive 44

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000399
hpo_term: Prelingual sensorineural hearing impairment
chpo_term: 学语前感音神经性听力损失