Medical Subject Headings

Last uploaded: November 5, 2019

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 D004485 D008607 D019066 D008831
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D019066 http://purl.bioontology.org/ontology/MESH/D008607 http://purl.bioontology.org/ontology/MESH/D004485 http://purl.bioontology.org/ontology/MESH/D008831 http://purl.bioontology.org/ontology/MESH/D006130
MDA	20100825
MeSH Frequency	13
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	T736982 T736984
TH	ORD (2010) OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_14796	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/OMIM/223370	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/223370	Online Mendelian Inheritance in Man	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125591	National Cancer Institute Thesaurus	LOOM