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loading...| 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080041 |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:205468002 GARD:6724 NCI:C118697 OMIM:146000 MESH:C562937 ORDO:429 ICD10CM:Q77.4 UMLS_CUI:C0410529 |
| definition |
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080041 |
| in_subset | |
| label |
hypochondroplasia |
| notation |
DOID:0080041 |
| prefLabel |
hypochondroplasia |
| subClassOf |
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