Anne M. Slavotinek, et.al., Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1., Journal of medical genetics, 2011, 48

http://rdf.ncbi.nlm.nih.gov/pubmed/21507892

Anne M. Slavotinek, et.al., Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1., Journal of medical genetics, 2011, 48

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• ocular hypertelorism_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0001300C57BL6JFrem1batFrem1batFrem1batFrem1bat
• decreased cornea thickness_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0005543C57BL6JFrem1batFrem1batFrem1batFrem1bat
• asymmetric snout_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0008862C57BL6JFrem1batFrem1batFrem1batFrem1bat
• abnormal conjunctiva morphology_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0001310C57BL6JFrem1batFrem1batFrem1batFrem1bat
• abnormal craniofacial morphology_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0000428C57BL6JFrem1batFrem1batFrem1batFrem1bat
• abnormal corneal epithelium morphology_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0006000C57BL6JFrem1batFrem1batFrem1batFrem1bat
• coloboma_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0005262C57BL6JFrem1batFrem1batFrem1batFrem1bat
• rectal prolapse_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0000493C57BL6JFrem1batFrem1batFrem1batFrem1bat
• short snout_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0000445C57BL6JFrem1batFrem1batFrem1batFrem1bat
• cryptophthalmos_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0005242C57BL6JFrem1batFrem1batFrem1batFrem1bat
• abnormal cornea morphology_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0001312C57BL6JFrem1batFrem1batFrem1batFrem1bat