Patrycja A. Krakowiak, et.al., Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency., Human molecular genetics, 2003, 12

http://rdf.ncbi.nlm.nih.gov/pubmed/12812989

Patrycja A. Krakowiak, et.al., Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency., Human molecular genetics, 2003, 12

pubmed

allele

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

• Sc5d<tm1Fdp>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2668464

表現型アノテーション

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

• abnormal brown adipose tissue morphology_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0002971I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• interparietal bone hypoplasia_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0004385I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• cleft palate_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0000111I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• decreased birth weight_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0009674I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• bowed ulna_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0004361I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• thin ribs_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0004674I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• fetal growth retardation_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0004201I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• perinatal lethality, complete penetrance_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0011089I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• skin edema_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0001786I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• lysosomal protein accumulation_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0005059I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• short limbs_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0000547I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• micrognathia_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0002639I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• decreased brain cholesterol level_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0010161I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• bowed tibia_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0004358I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• decreased cholesterol level_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0003983I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• increased liver weight_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0002981I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• abnormal autopod morphology_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0000572I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• polydactyly_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0000562I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• kinked tail_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0000585I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• decreased glycogen level_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0005439I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• abnormal cholesterol homeostasis_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0005278I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• abnormal phalanx morphology_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0005306I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• abnormal limb development_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0006279I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• abnormal nose morphology_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0002233I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• abnormal neurocranium morphology_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0000074I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• mandible hypoplasia_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0000460I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• bowed radius_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0004374I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• atelectasis_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0001177I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp
• abnormal pancreatic acinar cell zymogen granule morphology_Sc5d<tm1Fdp>/Sc5d<tm1Fdp>
  http://metadb.riken.jp/0009160I129S1Sv129X1SvJSc5dtm1FdpSc5dtm1FdpSc5dtm1Fdp

class

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

• Sc5d<tm1Fdp>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2668464

トランスクリプトームデータ

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

• CD28097
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD28097