hereditary skin disorder
MONDO:0100118Mondo
Findings
No curated finding names hereditary skin disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An instance of skin disease that is caused by a modification of the individual's genome.
Definition from the Mondo Disease Ontology (MONDO:0100118), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAPK8HGNC:6881
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (114)
- absence of fingerprints-congenital milia syndrome
- acrogeria
- acrokeratosis verruciformis
- albinism-hearing loss syndrome
- alopecia, isolated
- anhidrosis, familial generalized, with abnormal or absent sweat glands
- aplasia cutis congenita
- autosomal dominant vibratory urticaria
- blue rubber bleb nevus
- CHILD syndrome
- combined immunodeficiency with skin granulomas
- Darier disease
- deafness, congenital, with total albinism
- dermatitis herpetiformis, familial
- dermatosis papulosa nigra
- dyschromatosis universalis hereditaria
- epidermodysplasia verruciformis
- familial multiple discoid fibromas
- familial multiple nevi flammei
- familial pityriasis rubra pilaris
Other names
6 names
Resolves to: hereditary skin disorder
- Also called
- disease, genetic skindiseases, genetic skingenetic skin diseasegenetic skin diseasesgenodermatosisskin disease, genetic