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DO Term : amelogenesis imperfecta type 2A6 [DOID:0080960] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32.

synonyms:
OMIM:617217,
Amelogenesis imperfecta, hypomaturation type, IIA6,
617217

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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