Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023

Preferred Name	acrocephalosyndactylia
Synonyms	Apert syndrome
Definitions	A synostosis that results_in craniosynostosis and syndactyly. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_12960
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	UMLS_CUI:C1510455 OMIM:101200 NCI:C34348 SNOMEDCT_US_2022_09_01:63661009 ICD9CM:755.55 MESH:D000168
definition	A synostosis that results_in craniosynostosis and syndactyly.
has exact match	MESH:D000168
has exact synonym	Apert syndrome
has_alternative_id	DOID:0080004
has_obo_namespace	disease_ontology
id	DOID:12960
in_subset	http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	acrocephalosyndactylia
notation	DOID:12960
prefLabel	acrocephalosyndactylia
subClassOf	http://purl.obolibrary.org/obo/DOID_11971

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D000168	Medical Subject Headings / 医学主题词表	LOOM
http://purl.obolibrary.org/obo/DOID_12960	BioAssay Ontology / 生物活性分析本体	LOOM
http://purl.obolibrary.org/obo/DOID_12960	BioAssay Ontology / 生物活性分析本体	SAME_URI