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DO Term : X-linked properdin deficiency [DOID:0111768] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.

synonyms:
GARD:9913,
SNOMEDCT_US_2023_03_01:81166004,
UMLS_CUI:C1839454,
complement factor properdin deficiency,
CFPD,
ORDO:2966,
OMIM:312060,
312060,
MESH:C537241,
UMLS_CUI:C0398762

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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