Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

Dubowitz syndrome

Synonyms

Dubowitz's syndrome

Definitions

A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. OMIM mapping confirmed by DO. [SN].

ID

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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:C535718

ICD10CM:Q87.19

MEDDRA:10059589

SNOMEDCT_US_2022_09_01:2593002

UMLS_CUI:C0175691

OMIM:223370

NCI:C125591

GARD:6290

definition

A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.

has exact synonym

Dubowitz's syndrome

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has symptom

http://purl.obolibrary.org/obo/SYMP_0000369

has_obo_namespace

disease_ontology

id

DOID:14796

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

Dubowitz syndrome

notation

DOID:14796

prefLabel

Dubowitz syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

http://purl.obolibrary.org/obo/DOID_0050737

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http://purl.bioontology.org/ontology/MESH/C535718 Medical Subject Headings LOOM
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