Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	spondyloepimetaphyseal dysplasia, Strudwick type
Definitions	A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_0080028
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	GARD:134 OMIM:184250 ORDO:93346
definition	A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
disease has location	http://purl.obolibrary.org/obo/UBERON_0001130
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has symptom	http://purl.obolibrary.org/obo/SYMP_0000568
has_obo_namespace	disease_ontology
id	DOID:0080028
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	spondyloepimetaphyseal dysplasia, Strudwick type
notation	DOID:0080028
prefLabel	spondyloepimetaphyseal dysplasia, Strudwick type
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0080027

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/184250	Online Mendelian Inheritance in Man	LOOM