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DO Term : autosomal recessive thrombophilia due to protein S deficiency [DOID:0111905] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1.

synonyms:
ORDO:743,
614514,
severe hereditary thrombophilia due to congenital protein S deficiency,
THPH6,
UMLS_CUI:C3281092,
OMIM:614514,
autosomal recessive thrombophilia due to congenital protein S deficiency

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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