| Metadata | |
|---|---|
| ID | DOID:0111724 |
| Name | geleophysic dysplasia |
| Definition | A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia, https://www.ncbi.nlm.nih.gov/pubmed/20301776, https://www.ncbi.nlm.nih.gov/pubmed/31516831 |
| Xrefs |
MEDDRA:10063361 SNOMEDCT_US_2023_03_01:28557005 |
| Subsets |
DO_rare_slim |
| Synonyms |
geleophysic dwarfism [EXACT] GPHYSD [EXACT] |
| Parent Relationships |