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General Information
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| Term |
autosomal recessive thrombophilia due to protein C deficiency |
ID (Ontology) |
DOID:0111904 (Human Disease) |
| 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. |
| Also Known As |
"autosomal recessive PROC deficiency" ; "autosomal recessive protein C deficiency" ; "THPH4" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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autosomal recessive thrombophilia due to protein C deficiency | 1 | for disease ribbon | autosomal recessive thrombophilia due to protein C deficiency | 1 | model of | autosomal recessive thrombophilia due to protein C deficiency | 1 |
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Relationships