Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Hypochondroplasia
Synonyms

Hypochondrodysplasia
ID

http://purl.bioontology.org/ontology/MESH/C562937
altLabel

Hypochondrodysplasia
cui

C0410529
Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000002
HM

D008141

D004392

D001842/Q000002

D017880
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D017880

http://purl.bioontology.org/ontology/MESH/D001842

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D008141
MDA

20121105
MeSH Frequency

36
MMR

20150818
notation

C562937
prefLabel

Hypochondroplasia
SC

3
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
TERMUI

T841717

T801862
TH

OMIM (2013)

GHR (2014)
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/134934 Online Mendelian Inheritance in Man CUI
http://purl.bmicc.cn/ontology/ICD11CN/LD24.01 International Classification of Diseases, 11th Edition, China LOOM
http://purl.obolibrary.org/obo/DOID_0080041 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118697 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/146000 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/146000 Online Mendelian Inheritance in Man LOOM