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DO Term : hyperprolinemia type 2 [DOID:0080543] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.
  • synonyms:
  • hyperprolinemia type II,
  • OMIM:239510,
  • ORDO:79101,
  • 239510,
  • MESH:C538385
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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