BioAssay Ontology / 生物活性分析本体

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

SNOMEDCT_US_2020_03_01:63661009

UMLS_CUI:C1510455

OMIM:101200

NCI:C34348

ICD9CM:755.55

MESH:D000168

has exact match

MESH:D000168

has exact synonym

Apert syndrome

has_alternative_id

DOID:0080004

id

DOID:12960

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

acrocephalosyndactylia

notation

DOID:12960

prefLabel

acrocephalosyndactylia

textual definition

A synostosis that results_in craniosynostosis and syndactyly.

引自

http://purl.obolibrary.org/obo/doid.owl

有_obo_命名空间

disease_ontology

subClassOf

http://purl.obolibrary.org/obo/DOID_11971

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http://purl.bioontology.org/ontology/MESH/D000168 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_12960 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_12960 Human Disease Ontology / 人类疾病本体 SAME_URI