BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

metaphyseal dysplasia

Synonyms

Pyle's disease

Definitions

An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.

ID

http://purl.obolibrary.org/obo/DOID_0080019

database_cross_reference

OMIM:215050

has exact synonym

Pyle's disease

Bakwin-Krida syndrome

Pyle-Cohn syndrome

id

DOID:0080019

label

metaphyseal dysplasia

notation

DOID:0080019

prefLabel

metaphyseal dysplasia

textual definition

An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.

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.bioontology.org/ontology/OMIM/MTHU007215 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q78.5 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.obolibrary.org/obo/DOID_0080019 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0080019 Human Disease Ontology / 人类疾病本体 SAME_URI
http://purl.obolibrary.org/obo/HP_0100255 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/ICD10/Q78.5 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM