Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

Spondylometaphyseal dysplasia

ID

http://purl.bioontology.org/ontology/OMIM/MTHU002631

cui

C0700635

Manifestation of

http://purl.bioontology.org/ontology/OMIM/184253

http://purl.bioontology.org/ontology/OMIM/607944

http://purl.bioontology.org/ontology/OMIM/602271

http://purl.bioontology.org/ontology/OMIM/611702

http://purl.bioontology.org/ontology/OMIM/250220

notation

MTHU002631

prefLabel

Spondylometaphyseal dysplasia

tui

T047

subClassOf

http://purl.bioontology.org/ontology/OMIM/MTHU000029

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http://purl.obolibrary.org/obo/HP_0002657 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/MESH/C537501 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0112295 Human Disease Ontology 123 LOOM