| Metadata | |
|---|---|
| ID | DOID:0112158 |
| Name | De Sanctis-Cacchione syndrome |
| Definition | A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. https://pubmed.ncbi.nlm.nih.gov/10767341/, https://pubmed.ncbi.nlm.nih.gov/2168777/, https://pubmed.ncbi.nlm.nih.gov/28491977/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:254201008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
xeroderma pigmentosum with neurologic manifestation [EXACT] |
| Parent Relationships |