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Preferred Name

Spondyloepimetaphyseal dysplasia
ID

http://purl.bioontology.org/ontology/OMIM/MTHU005067
cui

C0432211
Manifestation of

http://purl.bioontology.org/ontology/OMIM/300232

http://purl.bioontology.org/ontology/OMIM/271650

http://purl.bioontology.org/ontology/OMIM/602111

http://purl.bioontology.org/ontology/OMIM/616007

http://purl.bioontology.org/ontology/OMIM/300106

http://purl.bioontology.org/ontology/OMIM/271665

http://purl.bioontology.org/ontology/OMIM/618395

http://purl.bioontology.org/ontology/OMIM/601668

http://purl.bioontology.org/ontology/OMIM/603546

http://purl.bioontology.org/ontology/OMIM/304950

http://purl.bioontology.org/ontology/OMIM/610442

http://purl.bioontology.org/ontology/OMIM/602557

http://purl.bioontology.org/ontology/OMIM/271640
notation

MTHU005067
prefLabel

Spondyloepimetaphyseal dysplasia
tui

T047
subClassOf

http://purl.bioontology.org/ontology/OMIM/MTHU000029
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Delete Mapping To Ontology Source
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 Human Disease Ontology / 人类疾病本体 LOOM
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