Disease: Ectodermal Dysplasia 7, Hair/Nail Type

Name Ectodermal Dysplasia 7, Hair/Nail Type

Synonyms -

Classification developmental, genetic, skin

Phenotypes Alopecia; Autosomal recessive inheritance; Brittle hair; Dystrophic fingernails; Dystrophic toenail; Hair-nail ectodermal dysplasia; Hypotrichosis; Onycholysis; Sparse and thin eyebrow; Sparse eyelashes

Associated Genes KRT74 (Withdrawn symbols: K6IRS4, KRT5C, KRT6IRS4 )

Mouse Orthologs -

Source OMIM:614929 (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

No mouse models associated with OMIM:614929 by orthology to a human gene.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter