Medical Subject Headings

Last uploaded: November 18, 2019
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

43

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