BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

multiple epiphyseal dysplasia

Synonyms

polyepiphyseal dysplasia

Definitions

Xref MGI. An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.

ID

http://purl.obolibrary.org/obo/DOID_12721

comment

Xref MGI.

database_cross_reference

MESH:D010009

GARD:10756

ICD9CM:756.56

ORDO:251

SNOMEDCT_US_2020_03_01:59708000

UMLS_CUI:C0026760

has exact synonym

polyepiphyseal dysplasia

id

DOID:12721

in_subset

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

label

multiple epiphyseal dysplasia

notation

DOID:12721

prefLabel

multiple epiphyseal dysplasia

textual definition

An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.

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/MTHU037429 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/HP_0002654 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.obolibrary.org/obo/DOID_12721 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_12721 Human Disease Ontology / 人类疾病本体 SAME_URI
http://www.orpha.net/ORDO/Orphanet_251 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0016648 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0016648 Experimental Factor Ontology / 实验性因素本体 LOOM