National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Dubowitz Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125591

code

C125591

DEFINITION

A rare, autosomal recessive inherited syndrome characterized by microcephaly, growth retardation, and a small, round, triangular shaped face with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.

label

Dubowitz Syndrome

Preferred_Name

Dubowitz Syndrome

prefixIRI

C125591

prefLabel

Dubowitz Syndrome

Semantic_Type

Disease or Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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http://purl.obolibrary.org/obo/DOID_14796 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C535718 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/223370 Online Mendelian Inheritance in Man LOOM