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About:
clgr:
Rothmund–Thomson_syndrome
Property
Value
rdf:
type
owl:
NamedIndividual
Rare disease
Skin condition
Syndrome affecting stature
Syndrome affecting the eye
Syndrome affecting the skin
Radiographic finding associated with cutaneous conditions
DNA replication and repair-deficiency disorder
Genodermatose
Autosomal recessive disorder
MeSH code (C16)
MeSH code (C18)
MeSH code (C17)
Progeroid syndrome
rdfs:
label
Rothmund–Thomson syndrome
owl:
sameAs
dbr:
Rothmund–Thomson_syndrome
prov:
wasDerivedFrom
http://en.wikipedia.org/wiki/Category:DNA_replication_and_repair-deficiency_disorders
http://en.wikipedia.org/wiki/Category:Genodermatoses
http://en.wikipedia.org/wiki/Category:Progeroid_syndromes
http://en.wikipedia.org/wiki/Category:Rare_diseases
http://en.wikipedia.org/wiki/List_of_diseases_(P)
http://en.wikipedia.org/wiki/List_of_diseases_(R)
http://en.wikipedia.org/wiki/List_of_skin_conditions
http://en.wikipedia.org/wiki/List_of_syndromes
http://en.wikipedia.org/wiki/List_of_radiographic_findings_associated_with_cutaneous_conditions
http://en.wikipedia.org/wiki/Category:Syndromes_affecting_stature
http://en.wikipedia.org/wiki/Category:Syndromes_affecting_the_eye
http://en.wikipedia.org/wiki/Category:Syndromes_affecting_the_skin
http://en.wikipedia.org/wiki/List_of_MeSH_codes_(C17)
http://en.wikipedia.org/wiki/Osteosarcoma
http://en.wikipedia.org/wiki/Cellular_senescence
http://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)
http://en.wikipedia.org/wiki/Category:Autosomal_recessive_disorders
http://en.wikipedia.org/wiki/Chromosome_8
http://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)
http://en.wikipedia.org/wiki/DNA_repair-deficiency_disorder
http://en.wikipedia.org/wiki/Progeroid_syndromes
http://en.wikipedia.org/wiki/Poikiloderma
skos:
prefLabel
Rothmund–Thomson syndrome
skos:
altLabel
Poikiloderma of Rothmund–Thomson
clgo:
diseasesDB
29891
clgo:
eMedicineSubject
derm
clgo:
eMedicineTopic
379
clgo:
geneReviewsId
NBK1237
clgo:
geneReviewsName
Rothmund-Thomson Syndrome
clgo:
icd10
Q82.8
(ILDSQ82.852)
clgo:
icd9
757.33
clgo:
meshId
D011038
clgo:
omim
268400
clgo:
orpha
2909