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About:
Saethre-Chotzen Syndrome
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An Entity of Type :
about:cgab#this
, within Data Space :
semmed.demo.openlinksw.com
associated with source
document(s)
Type:
dsyn
cgab
New Facet based on Instances of this Class
Attributes
Values
label
saethre-chotzen syndrome
ASSOCIATED_WITH
Amino Acid Substitution
schema:identifier
c0175699
ISA
Disease
Syndrome
Craniosynostosis
PROCESS_OF
C0030705
Family
Human
Individual
Mothers
General Population
Woman
Infant
Girls
sibling
Family member
father
Sister
Daughter
AFFECTS
Teams
PREDISPOSES
Malignant Neoplasms
MANIFESTATION_OF
Mutation
is
LOCATION_OF
of
7p22
7p21
5q34-q35
is
COEXISTS_WITH
of
Balanced translocations
Mental handicap
Limb deformity
is
ASSOCIATED_WITH
of
Female
TWIST1 gene|TWIST1
Genetic Heterogeneity
is
DIAGNOSES
of
Dermatoglyphics
is
CAUSES
of
Mutation
TRANSCRIPTION FACTOR
TWIST1 gene|TWIST1
Germ-Line Mutation
DELETION
FGFR2 gene|FGFR2
is
TREATS
of
Operative Surgical Procedures
Noninvasive procedure
is
AFFECTS
of
TWIST1 gene|TWIST1
Dominant-Negative Mutation
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