TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:609952):
Deafness, autosomal recessive 55
DEAFNESS, AUTOSOMAL RECESSIVE 55

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
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:618687):
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES
Intellectual developmental disorder with short stature and behavioral abnormalities

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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: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:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
Disease (OMIM:106190):
Anhidrosis, isolated, with normal sweat glands
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007459
hpo_term: Generalized anhidrosis
chpo_term: 泛发性无汗症
Disease (OMIM:194380):
Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA

Associated phenotypes (HPO):
id: HP:0005535
hpo_term: Exercise-induced hemolysis
chpo_term: 运动诱发性性溶血
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0003641
hpo_term: Hemoglobinuria
chpo_term: 血红蛋白尿
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0032106
hpo_term: Conjunctival icterus
chpo_term: 结膜黄疸
id: HP:0025548
hpo_term: Increased mean corpuscular hemoglobin concentration
chpo_term: 红细胞平均血红蛋白量增多
id: HP:0008269
hpo_term: Increased red cell hemolysis by shear stress
chpo_term: 剪切应力相关的红细胞溶血增加
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:600962):
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
Palmoplantar keratoderma, nonepidermolytic

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007404
hpo_term: Nonepidermolytic palmoplantar hyperkeratosis
chpo_term: 非表皮松解性掌跖角化症
Disease (OMIM:176305):
PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
Preaxial deficiency, postaxial polydactyly, and hypospadias

Associated phenotypes (HPO):
id: HP:0000807
hpo_term: Glandular hypospadias
chpo_term: 阴茎头型尿道下裂
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0001885
hpo_term: Short 2nd toe
chpo_term: 第二趾短小
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
Disease (OMIM:162370):
NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
Neuropathy, congenital, with arthrogryposis multiplex

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0006903
hpo_term: Congenital peripheral neuropathy
chpo_term: 先天性周围神经病变
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001848
hpo_term: Calcaneovalgus deformity
chpo_term: 足外翻畸形
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
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:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
Disease (OMIM:190680):
Triphalangeal thumbs with brachyectrodactyly
TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY

Associated phenotypes (HPO):
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0005643
hpo_term: Short 3rd toe
chpo_term: 第三趾过短
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0009536
hpo_term: Short 2nd finger
chpo_term: 第二指短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:114580):
CANDIDIASIS, FAMILIAL, 1
Candidiasis, familial chronic mucocutaneous, autosomal dominant

Associated phenotypes (HPO):
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0002965
hpo_term: Cutaneous anergy
chpo_term: 皮肤失能
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:258040):
OEIS complex
OEIS COMPLEX

Associated phenotypes (HPO):
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0008707
hpo_term: Absent scrotum
chpo_term: 阴囊缺如
id: HP:0000061
hpo_term: Ambiguous genitalia, female
chpo_term: 女性外阴性别不明
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0010305
hpo_term: Absence of the sacrum
chpo_term: 骶骨缺如
id: HP:0008490
hpo_term: Sacral segmentation defect
chpo_term: 骶骨分节缺陷
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0002836
hpo_term: Bladder exstrophy
chpo_term: 膀胱外翻
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0000136
hpo_term: Bifid uterus
chpo_term: 双角子宫
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001586
hpo_term: Vesicovaginal fistula
chpo_term: 膀胱阴道瘘
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0005223
hpo_term: Duplicated colon
chpo_term: 重复结肠
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0010475
hpo_term: Cloacal exstrophy
chpo_term: 泄殖腔外翻
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:609946):
DEAFNESS, AUTOSOMAL RECESSIVE 47
Deafness, autosomal recessive 47

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
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:300559):
Muscle glycogenosis, X-linked
GLYCOGEN STORAGE DISEASE, TYPE IXd

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:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:6000198
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0030231
hpo_term: Glycogen accumulation in muscle fiber lysosomes
chpo_term: 肌肉纤维溶酶体糖原蓄积
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0009051
hpo_term: Increased muscle glycogen content
chpo_term: 肌糖原含量增加
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0008305
hpo_term: Exercise-induced myoglobinuria
chpo_term: 运动后肌红蛋白尿
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
id: HP:0008967
hpo_term: Exercise-induced muscle stiffness
chpo_term: 运动诱发的肌肉僵硬
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
Disease (OMIM:616866):
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
Spinal muscular atrophy with congenital bone fractures 1

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0003447
hpo_term: Axonal loss
chpo_term: 轴突缺失
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
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:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
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:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0005855
hpo_term: Multiple prenatal fractures
chpo_term: 多发性产前骨折
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:618863):
RETINAL DYSTROPHY WITH LEUKODYSTROPHY
Retinal dystrophy with leukodystrophy

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0009904
hpo_term: Prominent ear helix
chpo_term: 耳轮突出
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0030147
hpo_term: Truncal titubation
chpo_term: 躯干摇晃/躯干蹒跚
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0008167
hpo_term: Very long chain fatty acid accumulation
chpo_term: 极长链脂肪酸堆积
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
Disease (OMIM:178300):
Ptosis, hereditary congenital 1
PTOSIS, HEREDITARY CONGENITAL 1

Associated phenotypes (HPO):
id: HP:0007970
hpo_term: Congenital ptosis
chpo_term: 先天性上睑下垂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620442):
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 5
Breast-ovarian cancer, familial, susceptibility to, 5

Associated phenotypes (HPO):
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:167220):
PACMAN DYSPLASIA
Pacman dysplasia

Associated phenotypes (HPO):
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0005716
hpo_term: Lethal skeletal dysplasia
chpo_term: 致死性骨骼发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
Disease (OMIM:600792):
Deafness, neurosensory, autosomal recessive 5
DEAFNESS, AUTOSOMAL RECESSIVE 5

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:309555):
Mental retardation with optic atrophy, deafness, and seizures
MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0005193
hpo_term: Restricted large joint movement
chpo_term: 大关节运动受限
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:302400):
Central incisors, absence of
CENTRAL INCISORS, ABSENCE OF

Associated phenotypes (HPO):
id: HP:0006289
hpo_term: Agenesis of central incisor
chpo_term: 中切牙发育不全
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:259410):
OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS
Osteogenesis imperfecta congenita, microcephaly, and cataracts

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003023
hpo_term: Bowing of limbs due to multiple fractures
chpo_term: 多发骨折致肢体弯曲
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0005474
hpo_term: Decreased calvarial ossification
chpo_term: 颅骨骨化减少
id: HP:0002691
hpo_term: Platybasia
chpo_term: 颅底扁平症
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0005855
hpo_term: Multiple prenatal fractures
chpo_term: 多发性产前骨折
Disease (OMIM:206100):
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
Anemia, hypochromic microcytic, with iron overload 1

Associated phenotypes (HPO):
id: HP:0012132
hpo_term: Erythroid hyperplasia
chpo_term: 红系增生
id: HP:0025066
hpo_term: Decreased mean corpuscular volume
chpo_term: 红细胞平均体积减低
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0003452
hpo_term: Increased serum iron
chpo_term: 血清铁离子增高
id: HP:0032231
hpo_term: Hypochromia
chpo_term: 低色素（红细胞）
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:620456):
DYSTONIA 22, ADULT-ONSET
Dystonia 22, adult-onset

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
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:0007351
hpo_term: Upper limb postural tremor
chpo_term: 上肢姿势性震颤
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
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:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002544
hpo_term: Retrocollis
chpo_term: 颈后倾
Disease (OMIM:254120):
Muscular hypertonia, lethal
MUSCULAR HYPERTONIA, LETHAL

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
Disease (OMIM:309541):
Methylmalonic acidemia and homocysteinemia, Cblx type
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE

Associated phenotypes (HPO):
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002156
hpo_term: Homocystinuria
chpo_term: 高胱氨酸尿症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
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: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:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002160
hpo_term: Hyperhomocystinemia
chpo_term: 高同型半胱氨酸血症
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0002912
hpo_term: Methylmalonic acidemia
chpo_term: 甲基丙二酸血症
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:618877):
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
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:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100248
hpo_term: Hemiballismus
chpo_term: 偏侧投掷/偏侧投掷症
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
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
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:202400):
AFIBRINOGENEMIA, CONGENITAL
Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0030137
hpo_term: Prolonged bleeding following circumcision
chpo_term: 包皮环切术后出血时间延长
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0011421
hpo_term: Death in adolescence
chpo_term: 青春期死亡
id: HP:0100310
hpo_term: Epidural hemorrhage
chpo_term: 硬膜外出血
id: HP:0011884
hpo_term: Abnormal umbilical stump bleeding
chpo_term: 异常脐带根部出血
id: HP:0012223
hpo_term: Splenic rupture
chpo_term: 脾破裂
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0034287
hpo_term: Afibrinogenemia
chpo_term: 无纤维蛋白原血症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0006298
hpo_term: Prolonged bleeding after dental extraction
chpo_term: 拔牙后出血时间延长
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0100309
hpo_term: Subdural hemorrhage
chpo_term: 硬膜下出血
id: HP:0001934
hpo_term: Persistent bleeding after trauma
chpo_term: 创伤后持续性出血
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血