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Rothmund-Thomson syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010002

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. [ Orphanet:2909 ]

Synonyms: RTS congenital poikiloderma Rothmund-Thomson syndrome poikiloderma of Rothmund-Thomson

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:268400 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • Orphanet:2909 (OMIM:268400)
  • SCTID:69093006 (MONDO:equivalentTo)
  • NORD:1678 (MONDO:NORD)
  • UMLS:C0032339 (Orphanet:2909/e)
  • DOID:2732 (MONDO:equivalentTo)
  • NCIT:C3335 (MONDO:equivalentTo)
  • MESH:D011038 (Orphanet:2909/e)
  • GARD:4392 (Orphanet:2909)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/1567

comment

Editor note: check whether properties apply to both 1 and 2, or just type 2

exactMatch

http://purl.obolibrary.org/obo/DOID_2732

http://linkedlifedata.com/resource/umls/id/C0032339

http://identifiers.org/snomedct/69093006

http://purl.obolibrary.org/obo/NCIT_C3335

http://identifiers.org/mesh/D011038

https://omim.org/phenotypicSeries/PS268400

http://www.orpha.net/ORDO/Orphanet_2909

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0015333

http://purl.obolibrary.org/obo/MONDO_0016382

has related synonym

poikiloderma congenitale

poikiloderma atrophicans and cataract

id

MONDO:0010002

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010002