Disease: Ectodermal Dysplasia 4, Hair/Nail Type

Name Ectodermal Dysplasia 4, Hair/Nail Type

Synonyms ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE

Classification developmental, genetic, skin

Phenotypes Absent eyebrow; Absent eyelashes; Alopecia; Autosomal recessive inheritance; Brittle hair; Congenital onychodystrophy; Hair-nail ectodermal dysplasia; Nail dystrophy; Onycholysis; Pili torti; Sparse body hair; Temporal hypotrichosis

Associated Genes KRT85 (Withdrawn symbols: Hb-5, KRTHB5 )

Mouse Orthologs -

Source OMIM:602032 (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:602032 by orthology to a human gene.

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