| Metadata | |
|---|---|
| ID | DOID:2581 |
| Name | chondrodysplasia punctata |
| Definition | A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. https://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1, https://www.ncbi.nlm.nih.gov/pubmed/22229330 |
| Xrefs |
SNOMEDCT_US_2023_03_01:205486004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Chondrodysplasia punctata congenita [EXACT] |
| Parent Relationships |
is_a syndrome is_a monogenic disease |