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260403
MMEDF
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
Disease
:
Chemicals
:
Biological Phenomena
:
Anatomy
:
Organisms
Disease
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MeSH term
Japanese
Link
M
M
E
D
F
Facies
顔貌
Craniofacial Abnormalities
頭蓋顔面奇形
Osteochondrodysplasias
骨軟骨形成異常症
Abnormalities, Multiple
奇形-多発
Syndrome
症候群
Chemicals
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MeSH term
Japanese
Link
M
M
E
D
F
Aggrecans
アグリカン
Lectins, C-Type
レクチン-C型
Proteoglycans
プロテオグリカン
Extracellular Matrix Proteins
細胞外マトリックス蛋白質
Biological Phenomena
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Tree View
MeSH term
Japanese
Link
M
M
E
D
F
Consanguinity
血族
Chromosomes, Human, Pair 12
ヒト第12染色体
Genes, Recessive
劣性遺伝子
Polymorphism, Single Nucleotide
一塩基多型
Anatomy
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Tree View
MeSH term
Japanese
Link
M
M
E
D
F
Chromosomes, Human, Pair 12
ヒト第12染色体
Organisms
→
Tree View
MeSH term
Japanese
Link
M
M
E
D
F
Humans
ヒト