Agent Commons Collaborative Research

Hereditary skin disorder

An instance of skin disease that is caused by a modification of the individual's genome.

Identifiers
MONDO:0100118
Part of
Hereditary diseaseSkin disorder
Also known as
disease, genetic skin · diseases, genetic skin · genetic skin disease · genetic skin diseases · genodermatosis

Subtypes

All diseases Rare only
Disease Subtypes
Ectodermal dysplasia syndrome 203
Hereditary palmoplantar keratoderma 80
Inherited ichthyosis 62
Inherited epidermolysis bullosa 58
Hereditary photodermatosis 48
Hereditary lipodystrophy 30
Syndromic oculocutaneous albinism 21
Oculocutaneous albinism 13
Chronic mucocutaneous candidiasis 12
Hereditary angioedema 12
Porokeratosis 12
Cowden disease 8
Alopecia, isolated 8
Lamellar ichthyosis 7
Reticulate pigment disorder 7
Keratosis pilaris atrophicans 6
Psoriasis 6
Seborrheic keratosis 6
Schwannomatosis 5
Aplasia cutis congenita 3
Dyschromatosis universalis hereditaria 3
Familial acne inversa 3
Familial primary localized cutaneous amyloidosis 3
Linear skin defects with multiple congenital anomalies 3
Monilethrix 3
Familial chilblain lupus 2
Hereditary mucosal leukokeratosis 2
Neonatal inflammatory skin and bowel disease 2
Becker nevus syndrome 1
Acne 1
Autosomal recessive cutis laxa type 2A 1
Epidermodysplasia verruciformis 1
Hyperpigmentation with or without hypopigmentation, familial progressive 1
Lichen sclerosus et atrophicus 1
Nevus, epidermal 1
Stiff skin syndrome 1
CHILD syndrome
CLOVES syndrome
Cobb syndrome
DK1-congenital disorder of glycosylation
Darier disease
H syndrome
Hailey-Hailey disease
Legius syndrome
MEDNIK syndrome
Maffucci syndrome
PENS syndrome
Sneddon syndrome
Tietz syndrome
VPS13A-related neurodegenerative disease
X-linked chondrodysplasia punctata 2
X-linked reticulate pigmentary disorder
Absence of fingerprints-congenital milia syndrome
Acrogeria
Acrokeratosis verruciformis
Albinism-hearing loss syndrome
Anhidrosis, familial generalized, with abnormal or absent sweat glands
Autosomal dominant vibratory urticaria
Blue rubber bleb nevus
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Combined immunodeficiency with skin granulomas
Deafness, congenital, with total albinism
Dermatitis herpetiformis, familial
Dermatosis papulosa nigra
Encephalocraniocutaneous lipomatosis
Familial acanthosis nigricans
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
Familial keratoacanthoma
Familial multiple discoid fibromas
Familial multiple fibrofolliculoma
Familial multiple nevi flammei
Familial pityriasis rubra pilaris
Generalized basaloid follicular hamartoma syndrome
Hereditary mucoepithelial dysplasia
Hereditary papulotranslucent acrokeratoderma
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Hydroa vacciniforme, familial
Hyperkeratosis-hyperpigmentation syndrome
Inflammatory poikiloderma with hair abnormalities and acral keratoses
Infundibulocystic basal cell carcinoma
Isolated anhidrosis with normal sweat glands
Isolated congenital adermatoglyphia
Isolated hyperchlorhidrosis
Juvenile hyaline fibromatosis
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Large congenital melanocytic nevus
Lentigo
Lichen planus, familial
Linear nevus sebaceous syndrome
Lipoid proteinosis
Neurocutaneous melanocytosis
Neutrophil actin dysfunction
Nevus comedonicus syndrome
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Phakomatosis pigmentokeratotica
Piebaldism
Pilomatrixoma
Poikiloderma with neutropenia
Progressive osseous heteroplasia
Scalp defects-postaxial polydactyly syndrome
Sebocystomatosis
Seborrhea-like dermatitis with psoriasiform elements
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Skin creases, congenital symmetric circumferential, 1
Skin creases, congenital symmetric circumferential, 2
Spinocerebellar ataxia type 34
Subcutaneous panniculitis-like T-cell lymphoma
Sweet syndrome
Urticaria, aquagenic
Urticaria, familial localized heat
Vasculitis, lymphocytic, nodular

Rare disease

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