Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	spondyloepiphyseal dysplasia congenita
Synonyms	Late Spondyloepiphyseal Dysplasia
Definitions	A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_14789
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	OMIM:183900 GARD:4987 MESH:C535788
definition	A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
has exact synonym	Late Spondyloepiphyseal Dysplasia
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_alternative_id	DOID:0080025
has_obo_namespace	disease_ontology
id	DOID:14789
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	spondyloepiphyseal dysplasia congenita
notation	DOID:14789
prefLabel	spondyloepiphyseal dysplasia congenita
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0112280

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/183900	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C535788	Medical Subject Headings	LOOM