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http://www.w3.org/2002/07/owl#
ldp
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About:
Pallister-Killian syndrome
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An Entity of Type :
about:dsyn#this
, within Data Space :
semmed.demo.openlinksw.com
associated with source
document(s)
Type:
dsyn
New Facet based on Instances of this Class
Attributes
Values
label
pallister-killian syndrome
COEXISTS_WITH
Severe Mental Retardation
Congenital chromosomal disease
Isochromosomes
schema:identifier
c0265449
ISA
Congenital chromosomal disease
PROCESS_OF
C0030705
Child
Individual
Infant
AFFECTS
pleiotropism
is
LOCATION_OF
of
Buccal mucosa
Chromosome 12 Short Arm
is
COEXISTS_WITH
of
i(12p)
Macrocephaly
Micromelia
Congenital deformity of face
is
ASSOCIATED_WITH
of
Pregnancy
Phenotype
Chromosome 12 Short Arm
Functional RNA
Birth Weight
MEIS2
UQCRB
is
DIAGNOSES
of
Clinicians
Polymerase Chain Reaction
Fluorescent in Situ Hybridization
Amniocentesis
Chorionic Villi Sampling
Microarray Analysis
genetic analysis
G-Banding
buccal smear biopsy procedure
Cordocentesis
is
CAUSES
of
Tetrasomy
is
TREATS
of
Anesthetics
is
AFFECTS
of
COPS7A
ATN1 gene|ATN1
NECAP1
is
MANIFESTATION_OF
of
Mental Retardation
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