OMIM → Related disease, drugs, ...
Query OMIM entry list
01
218340
-
CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION
-
Disease
:
Chemicals
:
Biological Phenomena
:
Anatomy
:
Organisms
Disease
→
Tree View
MeSH term
Japanese
Link
01
Porphyrias
ポルフィリン症
Coloboma
眼組織欠損症
Craniofacial Abnormalities
頭蓋顔面奇形
Intellectual Disability
精神発達遅滞
Abnormalities, Multiple
奇形-多発
Chemicals
→
Tree View
MeSH term
Japanese
Link
01
Porphobilinogen Synthase
アミノレブリン酸デヒドラターゼ
Aminolevulinic Acid
アミノレブリン酸
Biological Phenomena
→
Tree View
MeSH term
Japanese
Link
01
Gene Amplification
遺伝子増幅
Homozygote
ホモ接合体
Exons
エクソン
Genes, Recessive
劣性遺伝子
Genotype
遺伝子型
Base Sequence
塩基配列
Mutation
変異
Anatomy
→
Tree View
MeSH term
Japanese
Link
01
Connective Tissue
結合組織
Iris
虹彩
Corpus Callosum
脳梁
Organisms
→
Tree View
MeSH term
Japanese
Link
01
Humans
ヒト
Database Center for Life Science