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DO Term : hyperprolinemia type 1 [DOID:0080542] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.

synonyms:
ORDO:419,
239500,
OMIM:239500,
hyperprolinemia type I

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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