| Metadata | |
|---|---|
| ID | DOID:0080041 |
| Name | hypochondroplasia |
| Definition | An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. http://en.wikipedia.org/wiki/Hypochondroplasia, http://www.ncbi.nlm.nih.gov/books/NBK1477/, http://ghr.nlm.nih.gov/condition/hypochondroplasia |
| Xrefs |
SNOMEDCT_US_2023_03_01:205468002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |