Cell Culture Ontology

Last uploaded: July 23, 2014
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Id http://purl.obolibrary.org/obo/MONDO_0010002
http://purl.obolibrary.org/obo/MONDO_0010002
Preferred Name

Rothmund-Thomson syndrome
Definitions
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
Synonyms
poikiloderma congenitale
poikiloderma atrophicans and cataract
poikiloderma of Rothmund-Thomson
Rothmund-Thomson syndrome
congenital poikiloderma
RTS
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
preferred label
Rothmund-Thomson syndrome
label
Rothmund-Thomson syndrome
prefLabel
Rothmund-Thomson syndrome
database_cross_reference
ICD9:759.89
UMLS:C0032339
SCTID:69093006
MEDGEN:10819
MESH:D011038
OMIMPS:268400
icd11.foundation:652761118
NANDO:1200671
Orphanet:2909
DOID:2732
GARD:4392
NCIT:C3335
NORD:1678
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IAO_0000233
notation
MONDO:0010002
in_subset
has_related_synonym
poikiloderma congenitale
poikiloderma atrophicans and cataract
id
MONDO:0010002
skos_exactMatch
subClassOf
type
has_exact_synonym
poikiloderma of Rothmund-Thomson
Rothmund-Thomson syndrome
congenital poikiloderma
RTS
curated_content_resource
excluded_subClassOf
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