Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. [ Orphanet:235 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:14796 (MONDO:equivalentTo)
  • SCTID:2593002 (MONDO:equivalentTo)
  • ICD10:Q87.1 (Orphanet:235)
  • NCIT:C125591 (MONDO:equivalentTo)
  • ICD9:742.8 (i2s)
  • Orphanet:235 (OMIM:223370)
  • OMIM:223370 (Orphanet:235)
  • MedDRA:10059589 (Orphanet:235)
  • MESH:C535718 (Orphanet:235)
  • GARD:0006290 (MONDO:equivalentTo)
  • UMLS:C0175691 (Orphanet:235)
Subsets

gard_rare, ordo_malformation_syndrome

A synonym that is historic and discouraged
intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci [ GARD:0006290 ]

definition

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

exactMatch

http://identifiers.org/snomedct/2593002

http://www.orpha.net/ORDO/Orphanet_235

http://linkedlifedata.com/resource/umls/id/C0175691

http://purl.obolibrary.org/obo/NCIT_C125591

http://identifiers.org/mesh/C535718

http://identifiers.org/meddra/10059589

http://purl.obolibrary.org/obo/DOID_14796

http://identifiers.org/omim/223370

has exact synonym

Dubowitz syndrome

Dubowitz's syndrome

has related synonym

dwarfism-eczema-peculiar facies syndrome

intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci

intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci

id

MONDO:0009124

seeAlso

https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome