| Metadata | |
|---|---|
| ID | DOID:0112120 |
| Name | SHOX-related short stature |
| Definition | A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. https://pubmed.ncbi.nlm.nih.gov/9140395/, https://pubmed.ncbi.nlm.nih.gov/9916840/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
idiopathic familial short stature [EXACT] |
| Parent Relationships |
is_a monogenic disease |