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DO Term : autosomal recessive Alport syndrome [DOID:0110033] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.

synonyms:
OMIM:203780,
GARD:625,
ORDO:88919,
203780

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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