Medical Subject Headings

Last uploaded: January 31, 2024
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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

D001842/Q000002

D008141

D017880

D004392
Inverse of RB

0
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
MDA

20121105
MeSH Frequency

51
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/MEDDRA/10020967 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10020967 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/PG410 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205468002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A13 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/205468002 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/134934 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10020967 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/1849-1975 CRISP CUI
http://purl.bioontology.org/ontology/OMIM/146000 OMIM CUI
http://purl.obolibrary.org/obo/MONDO_0007793 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 MONDO LOOM
http://www.gamuts.net/entity#hypochondroplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41000 RCTV2 LOOM
http://purl.jp/bio/4/id/200906074978999972 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118697 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10020967 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/PG410 RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205468002 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_429 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562937 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#Hypochondroplasia BDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_14714 CLO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0410529 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C118697 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_146000 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080041 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080041 FNS-H LOOM
http://identifiers.org/omim/146000 REXO LOOM
http://identifiers.org/omim/146000 GEXO LOOM
http://identifiers.org/omim/146000 RETO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_161 HRDO LOOM
http://purl.bioontology.org/ontology/OMIM/146000 OMIM LOOM