Link to this page
BioAssay Ontology
Last uploaded:
January 17, 2025
Jump to:
| Id | http://purl.obolibrary.org/obo/DOID_0080041
http://purl.obolibrary.org/obo/DOID_0080041
|
|---|---|
| Preferred Name | hypochondroplasia |
| Definitions |
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
hypochondroplasia
|
|---|---|
| prefLabel |
hypochondroplasia
|
| has cross-reference |
ICD10CM:Q77.4
SNOMEDCT_US_2020_03_01:205468002
OMIM:146000
UMLS_CUI:C0410529
MESH:C562937
NCI:C118697
GARD:6724
ORDO:429
See more
See less
|
| notation |
DOID:0080041
|
| id |
DOID:0080041
|
| has_obo_namespace |
disease_ontology
|
| textual definition |
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
|
| subClassOf | |
| imported from | |
| type |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |