PedAM
Pediatric Disease Annotations & Medicines
| Disease | microphthalmia |
| Phenotype | C0086543|cataract |
| Sentences | 4 |
| PubMedID- 21738392 | This is a unilateral “whole eye” disruption: microphthalmia with anterior dysgenesis, cataract and dysplastic retina. |
| PubMedID- 26481254 | Single central maxillary incisor.np[7]4m23 yearabsence of anterior pituitary and ectopic pituitary posterior lobe.absence of right ica and carotid canal and a1 segment of the right anterior cerebral artery.congenital microphthalmia with cataract and coloboma of the right eye, encephalocele. |
| PubMedID- 23300808 | In this study, we have identified a dominant cataract mouse mutation with microphthalmia, caused by the gja8r205g point mutation. |
| PubMedID- 24498598 | This deletion encompassed 36 genes in addition to otx2, including the known disease genes six6 (mim# 606326 microphthalmia with cataract 2 – discussed below), six1 (mim# 601205 brachiootic syndrome 3 and deafness, autosomal dominant 23), and prkch (mim# 605437 susceptibility to cerebral infarction). |
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