Genes Phenotypes

Disease: Amelogenesis Imperfecta, Type Ic

Name Amelogenesis Imperfecta, Type Ic

Synonyms AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH OR WITHOUT OPENBITE MALOCCLUSION, AUTOSOMAL RECESSIVE , AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, AUTOSOMAL RECESSIVE

Classification genetic, odontological

Phenotypes Amelogenesis imperfecta; Anterior open-bite malocclusion; Autosomal recessive inheritance; Heterogeneous; Hypomineralization of enamel; Yellow-brown discoloration of the teeth

Associated Genes ENAM (Withdrawn symbols: AIH2 )

Mouse Orthologs Enam (Withdrawn symbols: abte )

Source OMIM:204650 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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