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Rule:
asEquivalent
b3s
b3sifp
facets
http://www.w3.org/2002/07/owl#
ldp
oplweb
skos-trans
virtrdf-eturtle-containers
virtrdf-hashtag
virtrdf-ifp
virtrdf-label
virtrdf-meta-entity-class
None
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About:
Autosomal recessive retinitis pigmentosa
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An Entity of Type :
about:cgab#this
, within Data Space :
semmed.demo.openlinksw.com
associated with source
document(s)
Type:
cgab
New Facet based on Instances of this Class
Attributes
Values
label
autosomal recessive retinitis pigmentosa
schema:identifier
c0339526
ISA
Disease
Degenerative disorder
Retinal Degeneration
PART_OF
C0030705
Family
Individual
sibling
Adolescent
Indian ethnic group
PROCESS_OF
Individual
AFFECTS
Mutation
C0030705
Family
Mutation, Missense
is
LOCATION_OF
of
C0030705
Family
Retina
Japanese Population
is
COEXISTS_WITH
of
Disease Progression
Retinal Degeneration
is
NEG_AFFECTS
of
Genes
is
CAUSES
of
Genes
Homologous Gene
MERTK gene|MERTK
phosphoric diester hydrolase
Codon, Nonsense
USH2A
SAMD11
EYS
RP1
USH2A gene|USH2A
TULP1 gene|TULP1
C2orf71
is
AFFECTS
of
EYS
TULP1 gene|TULP1
is
NEG_CAUSES
of
mdh1
Faceted Search & Find service v1.17_git42 as of Oct 29 2019
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