OBO ID: DOID:2732
Term Name: Rothmund-Thomson syndrome Search Ontology:
Synonyms:
  • Congenital poikiloderma
  • RTS
Definition:
References:
  • GARD:4392
  • ICD10CM:Q82.8
  • MESH:D011038
  • MTHICD9_2006:757.33
  • NCI2004_11_17:C3335
  • NCI:C3335
  • OMIM:268400
  • SNOMEDCT_US_2018_03_01:69093006
  • UMLS_CUI:C0032339
Ontology: Human Disease   (DOID:2732)
Relationships
is a type of:
OTHER Rothmund-Thomson syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RECQL4 Rothmund-Thomson syndrome 268400
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None