Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

spondyloepimetaphyseal dysplasia

Definitions

An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.

ID

http://purl.obolibrary.org/obo/DOID_0080027

definition

An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.

disease has location

http://purl.obolibrary.org/obo/UBERON_0001437

http://purl.obolibrary.org/obo/UBERON_0001438

http://purl.obolibrary.org/obo/UBERON_0001130

has_obo_namespace

disease_ontology

id

DOID:0080027

label

spondyloepimetaphyseal dysplasia

notation

DOID:0080027

prefLabel

spondyloepimetaphyseal dysplasia

subClassOf

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

http://purl.obolibrary.org/obo/DOID_0060564

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http://purl.bioontology.org/ontology/OMIM/MTHU005067 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/DOID_0080027 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0080027 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.obolibrary.org/obo/HP_0002651 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0100510 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0100510 Experimental Factor Ontology / 实验性因素本体 LOOM