TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:226600):
Epidermolysis bullosa dystrophica, autosomal recessive
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0033803
hpo_term: Sub-lamina densa cleavage
chpo_term: 致密下层裂隙
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0005203
hpo_term: Spontaneous esophageal perforation
chpo_term: 自发性食管穿孔
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
id: HP:0002031
hpo_term: Abnormal esophagus morphology
chpo_term: 食管形态结构异常
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (OMIM:271980):
Succinic semialdehyde dehydrogenase deficiency
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0410053
hpo_term: Elevated circulating gamma-aminobutyric acid concentration
chpo_term: 循环γ-氨基丁酸水平升高
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:6000991
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:0032530
hpo_term: Decreased succinic semialdehyde dehydrogenase level
chpo_term: 琥珀酸半醛脱氢酶水平降低
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0032531
hpo_term: Elevated CSF gamma-aminobutyric acid concentration
chpo_term: 脑脊液γ-氨基丁酸浓度升高
id: HP:0032532
hpo_term: Elevated CSF 4-hydroxybutyric acid concentration
chpo_term: 脑脊液4-羟基丁酸浓度升高
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0032528
hpo_term: Elevated urinary 4-hydroxybutyric acid
chpo_term: 尿4-羟基丁酸升高
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:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:6000608
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0500253
hpo_term: Increased level of gamma-aminobutyric acid in urine
chpo_term: 尿液γ-氨基丁酸水平升高
Disease (OMIM:614323):
NEVOID HYPERMELANOSIS, LINEAR AND WHORLED
Nevoid hypermelanosis, linear and whorled

Associated phenotypes (HPO):
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0007572
hpo_term: Hyperpigmented streaks
chpo_term: 线状色素沉着
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:191600):
URETER, CANCER OF
Ureter, cancer of

Associated phenotypes (HPO):
id: HP:0100516
hpo_term: Neoplasm of the ureter
chpo_term: 输尿管肿瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614337):
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
Colorectal cancer, hereditary nonpolyposis, type 4

Associated phenotypes (HPO):
id: HP:0006716
hpo_term: Hereditary nonpolyposis colorectal carcinoma
chpo_term: 遗传性非息肉性结直肠癌
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0012114
hpo_term: Endometrial carcinoma
chpo_term: 子宫内膜癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:158400):
Muscle cramps, familial
MUSCLE CRAMPS, FAMILIAL

Associated phenotypes (HPO):
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619613):
DELAYED PUBERTY, SELF-LIMITED
Delayed puberty, self-limited

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0030344
hpo_term: Decreased circulating luteinizing hormone level
chpo_term: 循环黄体生成素水平降低
id: HP:0030341
hpo_term: Decreased circulating follicle stimulating hormone concentration
chpo_term: 循环卵泡刺激素浓度降低
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619175):
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5
Proteasome-associated autoinflammatory syndrome 5

Associated phenotypes (HPO):
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0033331
hpo_term: Acute phase response
chpo_term: 急性期反应
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:617158):
Myopathy, distal, with rimmed vacuoles
MYOPATHY, DISTAL, WITH RIMMED VACUOLES

Associated phenotypes (HPO):
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:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0031237
hpo_term: Internally nucleated skeletal muscle fibers
chpo_term: 骨骼肌纤维中细胞核内聚
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0020203
hpo_term: Z-band streaming
chpo_term: Z带漂移
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:612020):
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
Spastic paraplegia 39, autosomal recessive

Associated phenotypes (HPO):
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:613869):
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:208700):
Ataxia with myoclonic epilepsy and presenile dementia
ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA

Associated phenotypes (HPO):
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:616911):
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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
id: HP:0002846
hpo_term: Abnormal B cell morphology
chpo_term: B细胞形态异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:203655):
ALOPECIA UNIVERSALIS CONGENITA
Alopecia universalis congenita

Associated phenotypes (HPO):
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002555
hpo_term: Absent pubic hair
chpo_term: 阴毛缺失
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:614860):
Dystonia 23
DYSTONIA 23

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002530
hpo_term: Axial dystonia
chpo_term: 轴向肌张力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:614874):
Ciliary dyskinesia, primary, 18
CILIARY DYSKINESIA, PRIMARY, 18

Associated phenotypes (HPO):
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
id: HP:0031565
hpo_term: Abdominal situs ambiguus
chpo_term: 内脏位置异常
id: HP:0012257
hpo_term: Absent inner dynein arms
chpo_term: 内在动力蛋白臂缺失
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0200073
hpo_term: Respiratory insufficiency due to defective ciliary clearance
chpo_term: 纤毛清除缺陷所致呼吸功能不全
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012256
hpo_term: Absent outer dynein arms
chpo_term: 外动力蛋白臂缺失
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0012263
hpo_term: Immotile cilia
chpo_term: 不动纤毛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:618096):
PREMATURE OVARIAN FAILURE 15
Premature ovarian failure 15

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
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:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031103
hpo_term: Decreased antimullerian hormone level
chpo_term: 抗苗勒氏管激素水平降低
Disease (OMIM:308700):
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 1 with or without anosmia

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
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:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001341
hpo_term: Olfactory lobe agenesis
chpo_term: 嗅叶不发育
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0030344
hpo_term: Decreased circulating luteinizing hormone level
chpo_term: 循环黄体生成素水平降低
id: HP:0003782
hpo_term: Eunuchoid habitus
chpo_term: 类无睾者习性
id: HP:0030341
hpo_term: Decreased circulating follicle stimulating hormone concentration
chpo_term: 循环卵泡刺激素浓度降低
id: HP:0003164
hpo_term: Hypothalamic gonadotropin-releasing hormone deficiency
chpo_term: 下丘脑促性腺激素释放激素缺乏症
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0002929
hpo_term: Leydig cell insensitivity to gonadotropin
chpo_term: 睾丸间质细胞(莱氏细胞）对促性腺激素不敏感
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:176500):
Cerebral amyloid angiopathy, itm2b-related, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0011970
hpo_term: Cerebral amyloid angiopathy
chpo_term: 脑淀粉样血管病
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
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:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:620247):
Cardiomyopathy, dilated, 1OO
CARDIOMYOPATHY, DILATED, 1OO

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0011706
hpo_term: Second degree atrioventricular block
chpo_term: 二度房室传导阻滞
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
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:309350):
MELNICK-NEEDLES SYNDROME
Melnick-Needles syndrome

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0011335
hpo_term: Frontal hirsutism
chpo_term: 前额多毛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0001704
hpo_term: Tricuspid valve prolapse
chpo_term: 三尖瓣脱垂
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0004611
hpo_term: Anterior concavity of thoracic vertebrae
chpo_term: 胸椎前凹
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000274
hpo_term: Small face
chpo_term: 小脸
id: HP:0000472
hpo_term: Long neck
chpo_term: 长颈
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0005446
hpo_term: Obtuse angle of mandible
chpo_term: 下颌钝角
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000071
hpo_term: Ureteral stenosis
chpo_term: 输尿管狭窄
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:613855):
EPISODIC ATAXIA, TYPE 5
Episodic ataxia, type 5

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0010850
hpo_term: EEG with spike-wave complexes
chpo_term: 脑电图，棘慢复合波
id: HP:0011147
hpo_term: Typical absence seizure
chpo_term: 典型的失神发作
id: HP:0012000
hpo_term: EEG with generalized spikes
chpo_term: 脑电图，广泛性棘波
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:173450):
Platelet factor 3 deficiency
PLATELET FACTOR 3 DEFICIENCY

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传