Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	microcephaly
Synonyms	microencephaly
Definitions	A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_10907
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	ICD9CM:742.1 MESH:D008831 GARD:3603 NCI:C85874 GARD:7038 UMLS_CUI:C0025958 ICD10CM:Q02 SNOMEDCT_US_2022_09_01:156893009
definition	A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
has exact match	MESH:D008831
has exact synonym	microencephaly Microcephalus
has_obo_namespace	disease_ontology
id	DOID:10907
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	microcephaly
notation	DOID:10907
prefLabel	microcephaly
subClassOf	http://purl.obolibrary.org/obo/DOID_2490

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D008831	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/ICD10/Q02	International Classification of Diseases, Version 10	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q02	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU036340	Online Mendelian Inheritance in Man	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA05.0	International Classification of Diseases, 11th Edition, China	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85874	National Cancer Institute Thesaurus	LOOM