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DO Term : amelogenesis imperfecta type 1K [DOID:0060945] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21.
  • synonyms:
  • OMIM:620104,
  • ORDO:88661,
  • GARD:5791,
  • 620104
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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