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DO Term : nephronophthisis 1 [DOID:0111112] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.

synonyms:
juvenile nephronophthisis 1,
NPH1,
NPHP1,
256100,
OMIM:256100

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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