TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620519):
ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0025169
hpo_term: Left ventricular systolic dysfunction
chpo_term: 左心室收缩功能障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0030718
hpo_term: Right atrial enlargement
chpo_term: 右心房扩大
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0031318
hpo_term: Myofiber disarray
chpo_term: 肌纤维无序
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001685
hpo_term: Myocardial fibrosis
chpo_term: 心肌纤维化
id: HP:0034306
hpo_term: Ventricular bigeminy
chpo_term: 室性二联律
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0012413
hpo_term: Notched primary central incisor
chpo_term: 乳中切牙缺口
id: HP:0040149
hpo_term: Woolly scalp hair
chpo_term: 羊毛状发
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:253700):
Muscular dystrophy, limb-girdle, type 2C
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5

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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003555
hpo_term: Muscle fiber splitting
chpo_term: 肌纤维分裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
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:619398):
INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE
Inflammatory bowel disease (infantile ulcerative colitis) 31

Associated phenotypes (HPO):
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
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:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:257200):
NIEMANN-PICK DISEASE, TYPE A
Niemann-Pick disease, type A

Associated phenotypes (HPO):
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0003609
hpo_term: Foam cells with lamellar inclusion bodies
chpo_term: 层状包涵体泡沫细胞
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
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:0001982
hpo_term: Sea-blue histiocytosis
chpo_term: 海蓝色组织细胞增多症
id: HP:0004333
hpo_term: Bone-marrow foam cells
chpo_term: 骨髓泡沫细胞
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002207
hpo_term: Diffuse reticular or finely nodular infiltrations
chpo_term: 弥漫性网状或细结节状浸润
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:618910):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86
Epileptic encephalopathy, early infantile, 86

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
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:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
Disease (OMIM:252350):
Moyamoya disease 1
MOYAMOYA DISEASE 1

Associated phenotypes (HPO):
id: HP:0012474
hpo_term: Carotid artery occlusion
chpo_term: 颈动脉闭塞
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005291
hpo_term: Inflammatory arteriopathy
chpo_term: 炎症性动脉病
Disease (OMIM:156830):
Micromelic bone dysplasia with cloverleaf skull
MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL

Associated phenotypes (HPO):
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002676
hpo_term: Cloverleaf skull
chpo_term: 分叶状颅
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613845):
HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome

Associated phenotypes (HPO):
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0005977
hpo_term: Hypochloremic metabolic alkalosis
chpo_term: 低氯性代谢性碱中毒
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (OMIM:616083):
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
Intellectual developmental disorder, autosomal dominant 30

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
Disease (OMIM:617389):
Epileptic encephalopathy, early infantile, 53
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0032660
hpo_term: Convulsive status epilepticus
chpo_term: 惊厥性癫痫持续状态
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:145680):
HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC
Dystransthyretinemic euthyroidal hyperthyroxinemia

Associated phenotypes (HPO):
id: HP:0008247
hpo_term: Euthyroid hyperthyroxinemia
chpo_term: 甲状腺功能正常的高甲状腺素血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:165550):
Optic nerve hypoplasia
OPTIC NERVE HYPOPLASIA, BILATERAL

Associated phenotypes (HPO):
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0007968
hpo_term: Remnants of the hyaloid vascular system
chpo_term: 玻璃体血管系统残留
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0025514
hpo_term: Morning glory anomaly
chpo_term: 牵牛花样视盘发育异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0012521
hpo_term: Optic nerve aplasia
chpo_term: 视神经发育缺陷
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614858):
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 14 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:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
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:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:613689):
Mammary-Digital-Nail syndrome
MAMMARY-DIGITAL-NAIL SYNDROME

Associated phenotypes (HPO):
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0010313
hpo_term: Breast hypertrophy
chpo_term: 乳房肥大
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
Disease (OMIM:161050):
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1
Nail disorder, nonsyndromic congenital, 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0012542
hpo_term: Onychauxis
chpo_term: 甲肥厚
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0030804
hpo_term: Trachyonychia
chpo_term: 指甲粗糙脆裂
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:620243):
LEUKODYSTROPHY, HYPOMYELINATING, 25
Leukodystrophy, hypomyelinating, 25

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
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:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:600193):
Waardenburg syndrome, type IIB
WAARDENBURG SYNDROME, TYPE 2B

Associated phenotypes (HPO):
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607373):
AUTISM, SUSCEPTIBILITY TO, 8
Autism, susceptibility to, 8

Associated phenotypes (HPO):
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000728
hpo_term: Impaired ability to form peer relationships
chpo_term: 同伴关系建立能力障碍
id: HP:0000723
hpo_term: Restrictive behavior
chpo_term: 限制性行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000758
hpo_term: Abnormal nonverbal communicative behavior
chpo_term: 非言语交际行为异常
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000721
hpo_term: Lack of spontaneous play
chpo_term: 自发性游戏缺乏
id: HP:0000732
hpo_term: Inflexible adherence to routines or rituals
chpo_term: 恪守程序或习惯
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618253):
Mitochondrial complex I deficiency, nuclear type 33
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
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:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:146160):
Hypomelia with mullerian duct anomalies
HYPOMELIA WITH MULLERIAN DUCT ANOMALIES

Associated phenotypes (HPO):
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0008740
hpo_term: Longitudinal vaginal septum
chpo_term: 阴道纵膈
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612018):
Cataract, juvenile, with microcornea and glucosuria
CATARACT 47

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:278750):
XERODERMA PIGMENTOSUM, VARIANT TYPE
Xeroderma pigmentosum, variant type

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0034697
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
id: HP:0007603
hpo_term: Freckles in sun-exposed areas
chpo_term: 曝光部位雀斑
Disease (OMIM:114140):
Callosities, hereditary painful
CALLOSITIES, HEREDITARY PAINFUL

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常