TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:619977):
Macular dystrophy, retinal, 4
MACULAR DYSTROPHY, RETINAL, 4

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0030619
hpo_term: Reduced OCT-measured foveal thickness
chpo_term: OCT 测量法中心凹厚度减小
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:239850):
CANTU SYNDROME
Hypertrichotic osteochondrodysplasia

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0004540
hpo_term: Congenital, generalized hypertrichosis
chpo_term: 先天性全身多毛症
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0010068
hpo_term: Broad first metatarsal
chpo_term: 第一跖骨粗大
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0007665
hpo_term: Curly eyelashes
chpo_term: 睫毛卷翘
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0004634
hpo_term: Cuboid-shaped vertebral bodies
chpo_term: 立方体形椎体
id: HP:0004975
hpo_term: Erlenmeyer flask deformity of the femurs
chpo_term: 股骨锥形瓶状变形
id: HP:0005129
hpo_term: Congenital hypertrophy of left ventricle
chpo_term: 先天性左心室肥厚
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0005445
hpo_term: Enlarged posterior fossa
chpo_term: 后颅窝增宽
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
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:0002690
hpo_term: Large sella turcica
chpo_term: 大蝶鞍
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0008822
hpo_term: Hypoplastic ischiopubic rami
chpo_term: 坐骨支发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:276821):
Ulnar hypoplasia with mental retardation
ULNAR HYPOPLASIA WITH MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0005648
hpo_term: Bilateral ulnar hypoplasia
chpo_term: 双侧尺骨发育不全
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0010501
hpo_term: Limitation of knee mobility
chpo_term: 膝关节活动受限
Disease (OMIM:207000):
ANOSMIA FOR ISOBUTYRIC ACID
Anosmia for isobutyric acid

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010633
hpo_term: Partial anosmia
chpo_term: 部分嗅觉丧失
Disease (OMIM:613282):
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
Fatty liver disease, nonalcoholic, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
Disease (OMIM:139630):
HAIRY NOSE TIP
Hairy nose tip

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
Disease (OMIM:300009):
DENT DISEASE 1
Dent disease 1

Associated phenotypes (HPO):
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003013
hpo_term: Bulging epiphyses
chpo_term: 骨骺凸出
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0010502
hpo_term: Fibular bowing
chpo_term: 腓骨弯曲
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000117
hpo_term: Renal phosphate wasting
chpo_term: 肾源性磷酸盐流失
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000114
hpo_term: Proximal tubulopathy
chpo_term: 近端肾小管病
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0003029
hpo_term: Enlargement of the ankles
chpo_term: 脚踝膨大
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0002752
hpo_term: Sparse bone trabeculae
chpo_term: 骨小梁稀疏
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003020
hpo_term: Enlargement of the wrists
chpo_term: 手腕膨大
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0031415
hpo_term: High serum calcitriol
chpo_term: 血清骨化三醇增高
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
Disease (OMIM:610947):
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2
Coronary artery disease, autosomal dominant 2

Associated phenotypes (HPO):
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0005181
hpo_term: Premature coronary artery atherosclerosis
chpo_term: 早发性冠心病
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
Disease (OMIM:179200):
RADIAL HEADS, POSTERIOR DISLOCATION OF
Radial heads, posterior dislocation of

Associated phenotypes (HPO):
id: HP:0005798
hpo_term: Posterior radial head dislocation
chpo_term: 桡骨头后脱位
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:247430):
LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF
Lymphoblastic transformation, inhibition of

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:134300):
Facial spasm
FACIAL SPASM

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615181):
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
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:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0007260
hpo_term: Type II lissencephaly
chpo_term: Ⅱ型无脑回畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:130600):
ELLIPTOCYTOSIS 2
Elliptocytosis 2

Associated phenotypes (HPO):
id: HP:0004445
hpo_term: Elliptocytosis
chpo_term: 椭圆形红细胞增多症
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
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
Disease (OMIM:616488):
Neuropathy, hereditary sensory and autonomic, type VIII
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
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
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0000633
hpo_term: Decreased lacrimation
chpo_term: 泪液分泌减少
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:606843):
Immunodeficiency with hyper-igm, type 3
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3

Associated phenotypes (HPO):
id: HP:0005479
hpo_term: Decreased circulating IgE
chpo_term: 循环IgE水平降低
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0002849
hpo_term: Absence of lymph node germinal center
chpo_term: 淋巴结生发中心缺失
id: HP:0002959
hpo_term: Impaired Ig class switch recombination
chpo_term: 免疫球蛋白类别转换重组障碍
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002847
hpo_term: Impaired memory B cell generation
chpo_term: 记忆B细胞生成障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:307000):
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS
Hydrocephalus due to congenital stenosis of aqueduct of sylvius

Associated phenotypes (HPO):
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0009600
hpo_term: Flexion contracture of thumb
chpo_term: 拇指屈曲挛缩
id: HP:0007016
hpo_term: Corticospinal tract hypoplasia
chpo_term: 皮质脊髓束发育不全
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:617219):
Chromosome 19q13.11 deletion syndrome, proximal
CHROMOSOME 19q13.11 DELETION SYNDROME, PROXIMAL

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
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:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
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:535000):
LEBER OPTIC ATROPHY
Leber optic atrophy

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001112
hpo_term: Leber optic atrophy
chpo_term: Leber视神经萎缩
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000576
hpo_term: Centrocecal scotoma
chpo_term: 中央盲点
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0007768
hpo_term: Central retinal vessel vascular tortuosity
chpo_term: 视网膜中央血管迂曲
Disease (OMIM:619234):
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
Short stature, oligodontia, dysmorphic facies, and motor delay

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0008454
hpo_term: Lumbar kyphosis
chpo_term: 腰椎后凸
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
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:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0005617
hpo_term: Bilateral camptodactyly
chpo_term: 双侧指屈曲
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
Disease (OMIM:229100):
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Formiminotransferase deficiency

Associated phenotypes (HPO):
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0001889
hpo_term: Megaloblastic anemia
chpo_term: 巨幼细胞性贫血
id: HP:0034742
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003612
hpo_term: Positive ferric chloride test
chpo_term: 三氯化铁试验阳性
id: HP:0004821
hpo_term: Hypersegmentation of neutrophil nuclei
chpo_term: 中性粒细胞核分叶过度
Disease (OMIM:614076):
Hermansky-Pudlak syndrome 7
HERMANSKY-PUDLAK SYNDROME 7

Associated phenotypes (HPO):
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0003540
hpo_term: Impaired platelet aggregation
chpo_term: 血小板聚集障碍
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0011891
hpo_term: Post-partum hemorrhage
chpo_term: 产后出血
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: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: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:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001934
hpo_term: Persistent bleeding after trauma
chpo_term: 创伤后持续性出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
Disease (OMIM:615368):
Lethal congenital contracture syndrome 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5

Associated phenotypes (HPO):
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
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:0100309
hpo_term: Subdural hemorrhage
chpo_term: 硬膜下出血
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
Disease (OMIM:260500):
PAPILLOMA OF CHOROID PLEXUS
Papilloma of choroid plexus

Associated phenotypes (HPO):
id: HP:0025709
hpo_term: Intermediate young adult onset
chpo_term: 青年成人中期起病
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0200022
hpo_term: Choroid plexus papilloma
chpo_term: 脉络丛乳头状瘤
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609741):
Cataract 22, multiple types
CATARACT 22, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618880):
GLAUCOMA, PRIMARY CLOSED-ANGLE
Glaucoma, primary closed-angle

Associated phenotypes (HPO):
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0012109
hpo_term: Angle closure glaucoma
chpo_term: 闭角型青光眼
id: HP:0012796
hpo_term: Increased cup-to-disc ratio
chpo_term: 杯盘比增大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610204):
Pontocerebellar hypoplasia, type 5
PONTOCEREBELLAR HYPOPLASIA, TYPE 5

Associated phenotypes (HPO):
id: HP:0006955
hpo_term: Olivopontocerebellar hypoplasia
chpo_term: 橄榄桥脑小脑发育不全
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传