TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616006):
Hennekam lymphangiectasia-lymphedema syndrome 2
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002593
hpo_term: Intestinal lymphangiectasia
chpo_term: 肠淋巴管扩张
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0005183
hpo_term: Pericardial lymphangiectasia
chpo_term: 心包淋巴管扩张
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0040079
hpo_term: Irregular dentition
chpo_term: 牙列不规则
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006521
hpo_term: Pulmonary lymphangiectasia
chpo_term: 肺淋巴管扩张
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0002778
hpo_term: Abnormal tracheal morphology
chpo_term: 气管形态异常
Disease (OMIM:614629):
KERATOCONUS 7
Keratoconus 7

Associated phenotypes (HPO):
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615537):
Reticulate acropigmentation of Kitamura
RETICULATE ACROPIGMENTATION OF KITAMURA

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
Disease (OMIM:114300):
Arthrogryposis, distal, type 3
ARTHROGRYPOSIS, DISTAL, TYPE 3

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0001193
hpo_term: Ulnar deviation of the hand or of fingers of the hand
chpo_term: 手或手指尺侧偏斜
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0003184
hpo_term: Decreased hip abduction
chpo_term: 髋关节外展减小
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0001836
hpo_term: Camptodactyly of toe
chpo_term: 脚趾屈曲畸形
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:605724):
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Fanconi anemia, complementation group D1

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0006727
hpo_term: T-cell acute lymphoblastic leukemias
chpo_term: T细胞急性淋巴细胞白血病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0003221
hpo_term: Chromosomal breakage induced by crosslinking agents
chpo_term: 交联剂诱发的染色体断裂
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
Disease (OMIM:267430):
Renal tubular dysgenesis
RENAL TUBULAR DYSGENESIS

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0008660
hpo_term: Renotubular dysgenesis
chpo_term: 肾小管发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004492
hpo_term: Widely patent fontanelles and sutures
chpo_term: 前囟及颅缝宽大
id: HP:0002009
hpo_term: Potter facies
chpo_term: 波特面容
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0100519
hpo_term: Anuria
chpo_term: 无尿症
Disease (OMIM:600884):
CARDIOMYOPATHY, DILATED, 1B
Cardiomyopathy, dilated, 1B

Associated phenotypes (HPO):
id: HP:0006670
hpo_term: Impaired myocardial contractility
chpo_term: 心肌收缩力受损
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
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:617320):
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12
Ichthyosis, congenital, autosomal recessive 12

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040190
hpo_term: White scaling skin
chpo_term: 白色鳞屑型皮肤
Disease (OMIM:618013):
DEAFNESS, AUTOSOMAL RECESSIVE 109
Deafness, autosomal recessive 109

Associated phenotypes (HPO):
id: HP:0011380
hpo_term: Morphological abnormality of the semicircular canal
chpo_term: 半规管形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008555
hpo_term: Absent vestibular function
chpo_term: 前庭功能缺失
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
Disease (OMIM:610329):
AICARDI-GOUTIERES SYNDROME 3
Aicardi-Goutieres syndrome 3

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0200149
hpo_term: CSF lymphocytic pleiocytosis
chpo_term: 脑脊液淋巴细胞增生症
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009710
hpo_term: Chilblains
chpo_term: 冻疮
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:618775):
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10
Mitochondrial complex III deficiency, nuclear type 10

Associated phenotypes (HPO):
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0004897
hpo_term: Stress/infection-induced lactic acidosis
chpo_term: 应激/感染诱发的乳酸酸中毒
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0005301
hpo_term: Persistent left superior vena cava
chpo_term: 左侧上腔静脉永存
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0011726
hpo_term: Persistent fetal circulation
chpo_term: 持续性胎儿循环
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:601224):
POTOCKI-SHAFFER SYNDROME
Potocki-Shaffer syndrome

Associated phenotypes (HPO):
id: HP:0002762
hpo_term: Multiple exostoses
chpo_term: 多发性外生骨疣
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0005650
hpo_term: 2-5 finger cutaneous syndactyly
chpo_term: 第二-五指皮肤性并指
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0004439
hpo_term: Craniofacial dysostosis
chpo_term: 颅面骨发育不全
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002697
hpo_term: Parietal foramina
chpo_term: 顶骨孔
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
Disease (OMIM:271520):
Spondylocostal dysostosis with anal atresia and urogenital anomalies
SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000068
hpo_term: Urethral atresia
chpo_term: 尿道闭锁
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
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:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0003250
hpo_term: Aplasia of the vagina
chpo_term: 阴道发育不全
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0002946
hpo_term: Supernumerary vertebrae
chpo_term: 额外椎骨
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0003305
hpo_term: Block vertebrae
chpo_term: 脊椎分节不全
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:604348):
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
Advanced sleep phase syndrome, familial, 1

Associated phenotypes (HPO):
id: HP:0006979
hpo_term: Sleep-wake cycle disturbance
chpo_term: 睡眠-觉醒周期紊乱
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0031873
hpo_term: Early chronotype
chpo_term: 早睡早起
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607641):
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
Neuronopathy, distal hereditary motor, type VIIB

Associated phenotypes (HPO):
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:223500):
DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE
Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:616994):
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2

Associated phenotypes (HPO):
id: HP:0100336
hpo_term: Bilateral cleft lip
chpo_term: 双侧唇裂
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:608572):
Burn-Mckeown syndrome
BURN-MCKEOWN SYNDROME

Associated phenotypes (HPO):
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0200138
hpo_term: Bilateral choanal atresia/stenosis
chpo_term: 双侧后鼻孔闭锁/狭窄
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000652
hpo_term: Lower eyelid coloboma
chpo_term: 下眼睑缺损
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:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0004502
hpo_term: Bilateral choanal atresia
chpo_term: 双侧后鼻孔闭锁
Disease (OMIM:254950):
MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA
Myopathy, granulovacuolar lobular, with electrical myotonia

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
Disease (OMIM:618761):
Catifa syndrome
CATIFA SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0011094
hpo_term: Increased overbite
chpo_term: 过咬合
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:601230):
DERMATITIS HERPETIFORMIS, FAMILIAL
Dermatitis herpetiformis, familial

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:182410):
Sneddon syndrome
SNEDDON SYNDROME

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
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:0033505
hpo_term: Livedo reticularis
chpo_term: 网状青斑
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0033832
hpo_term: Livedo
chpo_term: 青斑
id: HP:0033260
hpo_term: Livedo racemosa
chpo_term: 葡萄状青斑
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:619319):
Lymphatic malformation 9
LYMPHATIC MALFORMATION 9

Associated phenotypes (HPO):
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0033986
hpo_term: Tortuous lymphatic vessels
chpo_term: 淋巴管迂曲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613152):
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4

Associated phenotypes (HPO):
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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: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:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
Disease (OMIM:227000):
ERYTHEMA OF ACRAL REGIONS
Erythema of acral regions

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑