Zakia A. Abdelhamed, et.al., Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects., Human molecular genetics, 2013, 22

http://rdf.ncbi.nlm.nih.gov/pubmed/23283079

Zakia A. Abdelhamed, et.al., Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects., Human molecular genetics, 2013, 22

pubmed

表現型アノテーション

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

• mandible hypoplasia_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000460B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal tegmentum morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0006100B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal neural tube morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0002151B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• absent anterior commissure_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0008227B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal neural tube ventricular layer morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0009689B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal neural fold morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0011256B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• postnatal lethality_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0002082B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal roof plate morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000923B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal forebrain development_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0003232B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal dorsal-ventral axis patterning_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0001704B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal basal ganglion morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0006007B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• dilated fourth ventricle_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000829B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• holoprosencephaly_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0005157B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal hindbrain morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000841B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal nervous system morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0003632B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal brain ependyma motile cilium morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0011056B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• cerebellum vermis hypoplasia_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000866B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal cell morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000358B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• encephalomeningocele_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0012260B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• enlarged hippocampus_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0008282B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• exencephaly_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000914B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• absent embryonic cilia_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0004132B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• perinatal lethality_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0002081B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal hepatobiliary system development_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0003943B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• decreased forebrain size_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0012138B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• increased forebrain size_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0012139B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal midbrain development_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0003864B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal embryonic neuroepithelium morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0004261B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• incomplete rostral neuropore closure_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000928B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• microcephaly_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000433B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• kidney cysts_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0003675B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• meningomyelocele_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0009929B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• small cerebellum_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000852B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen
• abnormal corpus callosum morphology_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>
  http://metadb.riken.jp/0000780B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen