JSON

Dubowitz syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009124

A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. [ Orphanet:235 ]

Synonyms: Dubowitz syndrome Dubowitz's syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:223370 (Orphanet:235/e)
  • MedDRA:10059589 (Orphanet:235/e)
  • ICD9:742.8 (MONDO:relatedTo)
  • GARD:6290 (MONDO:GARD)
  • icd11.foundation:758537040 (MONDO:equivalentTo)
  • DOID:14796 (MONDO:equivalentTo)
  • NORD:1064 (MONDO:NORD)
  • UMLS:C0175691 (MONDO:equivalentTo)
  • Orphanet:235 (OMIM:223370)
  • SCTID:2593002 (MONDO:equivalentTo)
  • NCIT:C125591 (MONDO:equivalentTo)
  • MEDGEN:59797 (MONDO:equivalentTo)
  • MESH:C535718 (Orphanet:235/e)
Subsets

gard_rare, ordo_disorder, matrix_llm__is_cancer_other, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, rare, orphanet_rare, mondo_top_grouping_syndromic_disease, harrisons_view_integumentary_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, ordo_malformation_syndrome, harrisons_view_member, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

UK spelling synonym
intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behaviour problems, eczema, and unusual and distinctive faci

UK spelling synonym
intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behaviour problems, eczema, and unusual and distinctive faci

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 ]

closeMatch

http://identifiers.org/meddra/10059589

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

https://omim.org/entry/223370

http://identifiers.org/mesh/C535718

http://identifiers.org/medgen/59797

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/758537040

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

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

dwarfism-eczema-peculiar facies syndrome

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

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

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

term tracker item

https://github.com/monarch-initiative/mondo/issues/6744

https://github.com/monarch-initiative/mondo/issues/5588