Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/C562937 http://purl.bioontology.org/ontology/MESH/C562937
Preferred Name	Hypochondroplasia
Synonyms	Hypochondrodysplasia
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Hypochondrodysplasia
prefLabel	Hypochondroplasia
TH	OMIM (2013) GHR (2014)
notation	C562937
MMR	20150818
MeSH Frequency	51
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
HM	D001842/Q000002 D008141 D017880 D004392
Inverse of RB	0
Scope Statement	A hereditary autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It resembles ACHONDROPLASIA, but is much milder and can be distinguished clinically and radiographically. Mutations in the FGFR3 gene have been identified. OMIM: 146000
MDA	20121105
SC	3
type	http://www.w3.org/2002/07/owl#Class
Mapped to	http://purl.bioontology.org/ontology/MESH/D008141 http://purl.bioontology.org/ontology/MESH/D004392 http://purl.bioontology.org/ontology/MESH/D017880 http://purl.bioontology.org/ontology/MESH/D001842
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000002
tui	T047
cui	C0410529
TERMUI	T841717 T801862

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