Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	spondyloperipheral dysplasia
Synonyms	spondyloperipheral dysplasia-short ulna syndrome
Definitions	An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
ID	http://purl.obolibrary.org/obo/DOID_0112195
database_cross_reference	OMIM:271700 ORDO:1856
definition	An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
has exact synonym	spondyloperipheral dysplasia-short ulna syndrome
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0112195
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	spondyloperipheral dysplasia
notation	DOID:0112195
prefLabel	spondyloperipheral dysplasia
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_2256

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/271700	Online Mendelian Inheritance in Man	LOOM