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DO Term : amelogenesis imperfecta type 3C [DOID:0111722] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13.
  • synonyms:
  • 618386,
  • autosomal recessive amelogenesis imperfecta hypocalcification type,
  • OMIM:618386,
  • amelogenesis imperfecta type IIIC,
  • AI3C
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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