| Metadata | |
|---|---|
| ID | DOID:0070682 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070682 Copy |
| Name | congenital hydrocephalus 1 |
| Definition | A congenital hydrocephalus that has_material_basis_in homozygous mutation in the CCDC88C gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/29225145/, https://pmc.ncbi.nlm.nih.gov/articles/PMC8183048/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:762295002 |
| SKOS |
exactMatch MIM:236600 exactMatch UMLS_CUI:C4546092 exactMatch ORDO:269510 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |