Disease (ORPHA:2556):
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
MCOPS7
MIDAS syndrome
Microphthalmia with linear skin defects syndrome

Associated phenotypes (HPO):
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000614
hpo_term: Abnormal nasolacrimal system morphology
chpo_term: 鼻泪管系统的异常
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0009939
hpo_term: Mandibular aplasia
chpo_term: 下颌骨发育不全
id: HP:0011531
hpo_term: Vitritis
chpo_term: 玻璃体炎
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000036
hpo_term: Abnormal penis morphology
chpo_term: 阴茎形态异常
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001704
hpo_term: Tricuspid valve prolapse
chpo_term: 三尖瓣脱垂
id: HP:0002034
hpo_term: Abnormal rectum morphology
chpo_term: 直肠形态结构异常
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0004378
hpo_term: Abnormality of the anus
chpo_term: 肛门异常
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0007731
hpo_term: Chorioretinal dysplasia
chpo_term: 脉络膜视网膜发育不良
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0011027
hpo_term: Abnormal fallopian tube morphology
chpo_term: 输卵管形态异常
id: HP:0011265
hpo_term: Cleft earlobe
chpo_term: 耳垂裂
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难