Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Id	http://purl.obolibrary.org/obo/MONDO_0007793 http://purl.obolibrary.org/obo/MONDO_0007793
Preferred Name	hypochondroplasia
Definitions	Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
Synonyms	HCH hypochondroplasia
Type	http://www.w3.org/2002/07/owl#Class

definition	Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
altLabel	HCH hypochondroplasia
label	hypochondroplasia
prefLabel	hypochondroplasia
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4948
has_related_synonym	HCH
prefixIRI	MONDO:0007793
seeAlso	https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia
textual definition	Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019685 http://purl.obolibrary.org/obo/MONDO_0005516
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	hypochondroplasia

Delete	Subject	Author	Type	Created
No notes to display