BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

achondrogenesis

Definitions

An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

ID

http://purl.obolibrary.org/obo/DOID_0080043

database_cross_reference

GARD:2882

OMIM:PS200600

id

DOID:0080043

label

achondrogenesis

notation

DOID:0080043

prefLabel

achondrogenesis

textual definition

An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

引自

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

有_obo_命名空间

disease_ontology

subClassOf

http://purl.obolibrary.org/obo/DOID_2256

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http://purl.obolibrary.org/obo/DOID_0080043 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0080043 Human Disease Ontology / 人类疾病本体 SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019648 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019648 Experimental Factor Ontology / 实验性因素本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84527 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_932 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C579878 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LD24.50 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM