TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:261550):
Persistent mullerian duct syndrome, types I and II
PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
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
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
Disease (OMIM:614338):
PANCREATIC LIPASE DEFICIENCY
Pancreatic lipase deficiency

Associated phenotypes (HPO):
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012236
hpo_term: Elevated sweat chloride
chpo_term: 汗液氯化物浓度升高
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:216900):
Achromatopsia 2
ACHROMATOPSIA 2

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0030465
hpo_term: Undetectable light-adapted electroretinogram
chpo_term: 无法检出明适应视网膜电图
id: HP:0011516
hpo_term: Achromatopsia
chpo_term: 色盲
id: HP:0030825
hpo_term: Absent foveal reflex
chpo_term: 黄斑中心凹反射缺失
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0500041
hpo_term: Myopic astigmatism
chpo_term: 近视散光
id: HP:0500087
hpo_term: Peripapillary atrophy
chpo_term: 视乳头周围萎缩
id: HP:0034362
hpo_term: Dull foveal reflex
chpo_term: 中央凹反射迟钝
id: HP:0012047
hpo_term: Hemeralopia
chpo_term: 昼盲
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:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
Disease (OMIM:115080):
Cardiac conduction defectsudden cardiac death, included
CARDIAC CONDUCTION DEFECT

Associated phenotypes (HPO):
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001699
hpo_term: Sudden death
chpo_term: 猝死
Disease (OMIM:301059):
Spermatogenic failure, X-linked, 3
SPERMATOGENIC FAILURE, X-LINKED, 3

Associated phenotypes (HPO):
id: HP:0033393
hpo_term: Irregularly shaped sperm tail
chpo_term: 精子尾部畸形（不规则形状的精子尾）
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0032558
hpo_term: Absent sperm flagella
chpo_term: 精子鞭毛缺失
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
Disease (OMIM:609180):
Congenital disorder of glycosylation, type IF
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000242
hpo_term: Parietal bossing
chpo_term: 顶骨隆起
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000803
hpo_term: Renal cortical cysts
chpo_term: 肾皮质囊肿
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:620512):
SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT
Spastic paraplegia 18A, autosomal dominant

Associated phenotypes (HPO):
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:275900):
Spastic paraplegia 20, autosomal recessive
SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0012371
hpo_term: Hyperplasia of midface
chpo_term: 中面部肥大
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0005639
hpo_term: Hyperextensible hand joints
chpo_term: 手关节背伸过度
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
Disease (OMIM:202550):
Aganglionosis, total intestinal
AGANGLIONOSIS, TOTAL INTESTINAL

Associated phenotypes (HPO):
id: HP:0005241
hpo_term: Total intestinal aganglionosis
chpo_term: 完全性肠神经节细胞缺乏
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:203100):
ALBINISM, OCULOCUTANEOUS, TYPE IA
Albinism, oculocutaneous, type IA

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:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
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:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
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:0200098
hpo_term: Absent skin pigmentation
chpo_term: 皮肤色素缺失
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
Disease (OMIM:251120):
Methylmalonyl-Coa epimerase deficiency
METHYLMALONYL-CoA EPIMERASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002160
hpo_term: Hyperhomocystinemia
chpo_term: 高同型半胱氨酸血症
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:0031544
hpo_term: Elevated circulating palmitoleylcarnitine concentration
chpo_term: 丙酰基肉碱水平增高
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
Disease (OMIM:604498):
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
Amegakaryocytic thrombocytopenia, congenital

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004859
hpo_term: Amegakaryocytic thrombocytopenia
chpo_term: 巨核细胞缺乏性血小板减少症
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0005548
hpo_term: Megakaryocytopenia
chpo_term: 巨核细胞减少症
Disease (OMIM:615595):
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
Combined oxidative phosphorylation deficiency 19

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0030774
hpo_term: Mitochondrial swelling
chpo_term: 线粒体肿胀
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001403
hpo_term: Macrovesicular hepatic steatosis
chpo_term: 大泡性肝脂肪变性
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
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:270850):
SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION
Spastic paresis, glaucoma, and mental retardation

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:616922):
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
Striatal degeneration, autosomal dominant 2

Associated phenotypes (HPO):
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0010994
hpo_term: Abnormal corpus striatum morphology
chpo_term: 纹状体形态异常
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
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:611095):
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9
Intellectual developmental disorder, autosomal recessive 9/26

Associated phenotypes (HPO):
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:311510):
Waisman syndrome
WAISMAN SYNDROME

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
Disease (OMIM:273395):
TETRAAMELIA SYNDROME 1
Tetraamelia, autosomal recessive

Associated phenotypes (HPO):
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0003057
hpo_term: Tetraamelia
chpo_term: 四肢缺如
id: HP:0000068
hpo_term: Urethral atresia
chpo_term: 尿道闭锁
id: HP:0000782
hpo_term: Abnormal scapula morphology
chpo_term: 肩胛骨形态异常
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0000042
hpo_term: Absent external genitalia
chpo_term: 外生殖器缺如
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0008697
hpo_term: Hypoplasia of the fallopian tube
chpo_term: 输卵管发育不良
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001543
hpo_term: Gastroschisis
chpo_term: 腹裂
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0011743
hpo_term: Adrenal gland agenesis
chpo_term: 肾上腺发育缺失
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:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0009932
hpo_term: Single naris
chpo_term: 单鼻孔
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0005316
hpo_term: Peripheral pulmonary vessel aplasia
chpo_term: 周围肺血管发育不全
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
Disease (OMIM:179600):
RAYNAUD DISEASE
Raynaud disease

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:303100):
Choroideremia
CHOROIDEREMIA

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0030505
hpo_term: Nummular pigmentation of the fundus
chpo_term: 眼底硬币样色素沉着
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007793
hpo_term: Granular macular appearance
chpo_term: 斑点状黄斑色素异常
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0200065
hpo_term: Chorioretinal degeneration
chpo_term: 脉络膜视网膜变性
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0001139
hpo_term: Choroideremia
chpo_term: 无脉络膜症
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:614847):
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
Epilepsy, idiopathic generalized, susceptibility to, 12

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:301071):
THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT
Thrombophilia 13, X-linked, due to factor VIII defect

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0030977
hpo_term: Increased factor VIII activity
chpo_term: 因子VIII活性增高
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
Disease (OMIM:130200):
ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON
Electroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon

Associated phenotypes (HPO):
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617396):
ANAUXETIC DYSPLASIA 2
Anauxetic dysplasia 2

Associated phenotypes (HPO):
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002680
hpo_term: J-shaped sella turcica
chpo_term: J形蝶鞍
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0010646
hpo_term: Cervical spine instability
chpo_term: 颈椎不稳
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0003423
hpo_term: Thoracolumbar kyphoscoliosis
chpo_term: 胸腰段脊柱后侧凸畸形
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0008444
hpo_term: Posterior wedging of vertebral bodies
chpo_term: 椎体后侧楔形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0008802
hpo_term: Hypoplasia of the femoral head
chpo_term: 股骨头发育低下
id: HP:0008824
hpo_term: Hypoplastic iliac body
chpo_term: 髂骨体发育不良
Disease (OMIM:204690):
Amelogenesis imperfecta, type IG (enamel-renal syndrome)
AMELOGENESIS IMPERFECTA, TYPE IG

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004727
hpo_term: Impaired renal concentrating ability
chpo_term: 肾浓缩功能障碍
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0006302
hpo_term: Dagger-shaped pulp calcifications
chpo_term: 匕首状牙髓钙化
id: HP:0000169
hpo_term: Gingival fibromatosis
chpo_term: 牙龈纤维瘤病
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生