Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Dubowitz syndrome
Synonyms

Dwarfism-eczema-peculiar facies syndrome
ID

http://purl.bioontology.org/ontology/MESH/C535718
altLabel

Dwarfism-eczema-peculiar facies syndrome
cui

C0175691
HM

D006130

D008831

D004485

D008607

D019066
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D004485

http://purl.bioontology.org/ontology/MESH/D008831

http://purl.bioontology.org/ontology/MESH/D019066

http://purl.bioontology.org/ontology/MESH/D008607

http://purl.bioontology.org/ontology/MESH/D006130
MDA

20100825
MeSH Frequency

20
MMR

20151110
notation

C535718
prefLabel

Dubowitz syndrome
SC

3
Scope Statement

A hereditary autosomal recessive disorder characterized by intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive facies. OMIM: 223370
TERMUI

T736984

T736982
TH

OMIM (2013)

ORD (2010)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/2593002 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10059589 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/PKy66 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10059589 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10059589 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/2593002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00204 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.19 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/223370 OMIM CUI
http://purl.obolibrary.org/obo/MONDO_0009124 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009124 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14796 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535718 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14796 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14796 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14796 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14796 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14796 FNS-H LOOM
http://purl.obolibrary.org/obo/MONDO_0009124 DOVES LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14833 DERMLEX LOOM
http://www.gamuts.net/entity#Dubowitz_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy6600 RCTV2 LOOM
http://purl.obolibrary.org/obo/NCIT_C125591 BERO LOOM
http://purl.bioontology.org/ontology/RCD/PKy66 RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10059589 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125591 NCIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14796 NATPRO LOOM
http://www.orpha.net/ORDO/Orphanet_235 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_472 HRDO LOOM
http://purl.bioontology.org/ontology/OMIM/223370 OMIM LOOM