| Metadata | |
|---|---|
| ID | DOID:0111904 |
| Name | autosomal recessive thrombophilia due to protein C deficiency |
| Definition | A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. https://pubmed.ncbi.nlm.nih.gov/10942114/, https://pubmed.ncbi.nlm.nih.gov/6139528/ |
| Xrefs | |
| Synonyms |
autosomal recessive PROC deficiency [EXACT] autosomal recessive protein C deficiency [EXACT] THPH4 [EXACT] |
| Parent Relationships |
is_a protein C deficiency |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |