| Metadata | |
|---|---|
| ID | DOID:0111672 |
| Name | primary hyperoxaluria type 3 |
| Definition | A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. https://www.ncbi.nlm.nih.gov/books/NBK316514/, https://www.ncbi.nlm.nih.gov/pubmed/26340091 |
| Xrefs |
SNOMEDCT_US_2023_03_01:734990008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
HP3 [EXACT] PH III [EXACT] primary hyperoxaluria type III [EXACT] |
| Parent Relationships |